Genetic Services Laboratory - Submitter

Genetic Services Laboratory (University of Chicago)

General information

Genetic Services Laboratory
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238

Personnel

Nathaniel Phillips, Informatics staff
Phone: 773-834-0555
Email: nphilips78@bsd.uchicago.edu
Sanjukta Tawde, Genetic Counselor
Phone: 773-834-5812
Email: stawde@bsd.uchicago.edu
Malia Triebold, Genetic Counselor
Phone: 773-834-2795
Email: mtriebold@bsd.uchicago.edu

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 24524

Gene

Enter text to narrow down the list

Gene	Submissions	Last Updated
A2ML1	1	Jul 5, 2017
AAAS	5	Jan 24, 2022
AARS2	2	Jan 24, 2022
ABCA1	1	Jan 25, 2022
ABCA13	1	Sep 15, 2015
ABCB11	2	Jul 5, 2017
ABCB7	1	Jan 23, 2022
ABCC6	2	Jul 5, 2017
ABCC8	203	Mar 9, 2023
ABCC9	1	Jul 5, 2017
ABCD1	2	Jul 5, 2017
ABCD4	1	Jan 24, 2022
ABCG5	14	Mar 9, 2023
ABCG8	13	Mar 9, 2023
ABHD12	3	Jun 27, 2014
ABHD14A-ACY1	1	Jan 24, 2022
ACADS	1	Jan 24, 2022
ACADVL	1	Jul 5, 2017
ACD	32	Mar 9, 2023
ACO2	2	Jun 27, 2014
ACOX1	1	Jan 24, 2022
ACSF3	1	Jan 24, 2022
ACSL4	12	Jan 25, 2022
ACTA1	10	Jan 25, 2022
ACTB	9	Jan 25, 2022
ACTC1	1	Jan 24, 2022
ACTG1	33	Jan 25, 2022
ACTL6B	2	Jan 24, 2022
ACTN1	6	Jan 25, 2022
ACTN4	4	Mar 9, 2023
ACVRL1	3	Jan 25, 2022
ACY1	1	Jan 24, 2022
ADA	8	Mar 9, 2023
ADA2	9	Mar 9, 2023
ADAMTS13	12	Feb 18, 2022
ADAR	1	Jan 24, 2022
ADAT3	15	Jan 25, 2022
ADCY10	1	Jan 25, 2022
ADCY3	3	Jan 25, 2022
ADGRG1	50	Jan 25, 2022
ADGRV1	91	Jul 5, 2017
ADNP	15	Jan 25, 2022
ADRA2A	3	Jan 25, 2022
ADSL	8	Mar 9, 2023
AFF2	29	Jan 25, 2022
AFF4	8	Jan 25, 2022
AFG2A	9	Jan 25, 2022
AFG3L2	3	Sep 15, 2015
AGMO	8	Jan 25, 2022
AGO1	1	Jan 24, 2022
AGPAT2	11	Jan 25, 2022
AGPS	4	Sep 11, 2014
AGRN	52	Jan 25, 2022
AGTR2	1	Apr 30, 2014
AHDC1	6	Jan 25, 2022
AHI1	21	Mar 9, 2023
AIP	2	Mar 9, 2023
AIRE	28	Jan 25, 2022
AKR1C2	3	Jan 25, 2022
AKT1	1	Jul 5, 2017
AKT2	14	Jan 25, 2022
AKT3	1	Jan 25, 2022
ALAS2	21	Mar 9, 2023
ALDH5A1	16	Jan 25, 2022
ALDH7A1	10	Mar 6, 2020
ALDOB	1	Jan 24, 2022
ALG12	1	Jan 24, 2022
ALG13	5	Jan 25, 2022
ALG14	3	Jan 25, 2022
ALG6	22	Jan 25, 2022
ALG8	2	Mar 9, 2023
ALG9	5	Mar 9, 2023
ALK	16	Mar 9, 2023
ALMS1	72	Mar 9, 2023
ALPL	5	Jan 25, 2022
ALX1	2	Jul 5, 2017
ALX3	1	Sep 15, 2015
ALX4	2	Mar 9, 2023
AMACR	6	Sep 15, 2015
AMH	7	Jan 25, 2022
AMHR2	6	Jan 25, 2022
AMPD2	3	Jul 5, 2017
ANGPT2	9	Jul 5, 2017
ANK3	146	Jan 25, 2022
ANKLE2	1	Mar 9, 2023
ANKRD11	30	Mar 9, 2023
ANKRD26	107	Mar 9, 2023
ANKS6	2	Mar 9, 2023
ANLN	2	Mar 9, 2023
ANO10	11	Dec 5, 2022
ANO5	10	Jan 25, 2022
ANOS1	1	Jul 5, 2017
AOPEP	33	Mar 9, 2023
AP1S2	4	Jul 5, 2017
AP2S1	2	Jan 25, 2022
AP3B1	19	Jan 25, 2022
AP3D1	3	Jan 25, 2022
AP4B1	37	Jan 25, 2022
AP4B1-AS1	27	Jan 25, 2022
AP4E1	42	Jan 25, 2022
AP4M1	27	Jan 25, 2022
AP4S1	11	Jan 25, 2022
AP5Z1	9	Sep 15, 2015
APBA2	1	Jul 5, 2017
APC	66	Mar 9, 2023
APOA1	5	Mar 9, 2023
APOA1-AS	4	Mar 9, 2023
APOA2	4	Mar 9, 2023
APOA5	1	Jan 25, 2022
APOB	20	Jan 25, 2022
APOE	1	Jan 25, 2022
APOL1	1	Jan 25, 2022
APPL1	9	Mar 9, 2023
APTX	2	Jul 5, 2017
AR	35	Mar 9, 2023
ARFGEF1	2	Jul 5, 2017
ARFGEF1-DT	4	Jan 23, 2022
ARFGEF2	91	Jan 25, 2022
ARHGAP6	1	Apr 30, 2014
ARHGEF15	3	Jul 5, 2017
ARHGEF6	16	Jan 25, 2022
ARHGEF9	10	Jan 25, 2022
ARID1A	87	Mar 9, 2023
ARID1B	148	Jan 25, 2022
ARL13B	6	Mar 9, 2023
ARL14EP-DT	1	Jan 25, 2022
ARSA	4	Jan 24, 2022
ARSL	13	Jan 23, 2022
ARV1	1	Jan 25, 2022
ARX	67	Jan 25, 2022
ASB14	2	Jan 25, 2022
ASIC4-AS1	2	Jan 25, 2022
ASL	4	Jan 24, 2022
ASNS	7	Jan 25, 2022
ASPA	1	Jan 24, 2022
ASPM	265	Mar 9, 2023
ASS1	3	Jul 5, 2017
ASTN2	5	Mar 9, 2023
ASXL2	3	Jan 25, 2022
ASXL3	41	Mar 9, 2023
ATAD3A	1	Jan 23, 2022
ATCAY	2	Jan 25, 2022
ATG2B	24	Mar 9, 2023
ATL1	2	Jun 27, 2014
ATM	227	Mar 9, 2023
ATN1	8	Mar 6, 2020
ATP13A2	21	Jan 25, 2022
ATP1A2	12	Jan 24, 2022
ATP1A3	14	Jan 24, 2022
ATP2B3	1	Jan 23, 2022
ATP6AP2	4	Jun 27, 2014
ATP6V0A2	8	Jan 25, 2022
ATP6V0A4	1	Mar 9, 2023
ATP7A	105	Jul 5, 2017
ATP7B	74	Dec 5, 2022
ATP8A2	4	Sep 15, 2015
ATR	84	Jan 25, 2022
ATRX	56	Mar 9, 2023
ATXN1	15	Sep 15, 2015
ATXN2	5	Sep 15, 2015
ATXN3	9	Sep 15, 2015
ATXN7	4	Jun 27, 2014
AUH	1	Jun 27, 2014
AXDND1	1	Mar 9, 2023
AXIN1	3	Mar 9, 2023
AXIN2	12	Mar 9, 2023
B3GALNT2	6	Jan 25, 2022
B3GLCT	5	Jan 25, 2022
B4GALNT1	1	Jan 25, 2022
B4GAT1	3	Jan 25, 2022
B9D1	2	Jul 5, 2017
B9D2	1	Jul 5, 2017
BAP1	31	Mar 9, 2023
BARD1	25	Jan 25, 2022
BBS1	24	Jan 25, 2022
BBS10	17	Mar 9, 2023
BBS12	16	Mar 9, 2023
BBS2	5	Jan 25, 2022
BBS4	6	Jan 25, 2022
BBS5	9	Jan 25, 2022
BBS7	9	Mar 9, 2023
BBS9	23	Mar 9, 2023
BCKDHA	6	Jan 24, 2022
BCKDHB	2	Jan 24, 2022
BCKDK	6	Jul 5, 2017
BCOR	33	Jan 25, 2022
BICD2	4	Jan 25, 2022
BIN1	20	Sep 15, 2015
BIVM-ERCC5	7	Jan 24, 2022
BLK	21	Mar 9, 2023
BLM	88	Mar 9, 2023
BLOC1S3	7	Jan 25, 2022
BLOC1S6	1	Jul 5, 2017
BLTP1	1	Jan 25, 2022
BMP4	2	Jan 25, 2022
BMPR1A	12	Jan 25, 2022
BRAF	2	Jan 25, 2022
BRAT1	9	Jan 25, 2022
BRCA1	176	Mar 9, 2023
BRCA2	265	Mar 9, 2023
BRD4	1	Mar 9, 2023
BRIP1	66	Mar 9, 2023
BRPF1	1	Jan 24, 2022
BRWD3	18	Jan 25, 2022
BSCL2	9	Jan 25, 2022
BSND	1	Mar 9, 2023
BTD	8	Mar 9, 2023
BTK	3	Mar 9, 2023
BUB1B	3	Jan 25, 2022
C10orf105	1	Jan 24, 2022
C11orf65	83	Mar 9, 2023
C12orf43	1	Mar 6, 2020
C12orf57	11	Jan 25, 2022
C17orf107	7	Jan 25, 2022
C19orf12	7	Jul 5, 2017
C1QTNF3-AMACR	6	Sep 15, 2015
C2	3	Jan 25, 2022
C3	22	Mar 9, 2023
CA8	8	Jan 25, 2022
CACNA1A	49	Mar 9, 2023
CACNA1D	32	Mar 9, 2023
CACNA1G	1	Jul 5, 2017
CACNA2D2	3	Jan 25, 2022
CACNB4	6	Mar 6, 2020
CACNG2	2	Jul 5, 2017
CAMTA1	6	Jul 5, 2017
CAPN1	2	Jan 25, 2022
CAPN3	20	Jan 25, 2022
CARD11	25	Mar 9, 2023
CARD11-AS1	2	Jan 25, 2022
CASD1	1	Jul 5, 2017
CASK	48	Mar 9, 2023
CASP10	6	Mar 9, 2023
CASR	15	Mar 9, 2023
CAST	11	Jan 25, 2022
CAV1	2	Jun 27, 2014
CAV3	5	Jun 27, 2014
CAVIN1	4	Jul 5, 2017
CBL	50	Jan 25, 2022
CBR4	1	Sep 15, 2015
CC2D1A	56	Jan 25, 2022
CC2D2A	42	Mar 9, 2023
CCDC22	21	Dec 5, 2022
CCDC40	1	Apr 30, 2014
CCDC78	8	Oct 4, 2017
CCDC8	1	Jan 25, 2022
CCDC88A	1	Mar 9, 2023
CCDC88C	39	Jan 25, 2022
CCND2	1	Jan 25, 2022
CCNF	1	Mar 6, 2020
CD27	4	Mar 9, 2023
CD27-AS1	4	Mar 9, 2023
CD40LG	1	Mar 9, 2023
CD46	4	Mar 9, 2023
CD70	1	Jan 25, 2022
CDC6	11	Jul 5, 2017
CDC73	5	Jan 25, 2022
CDH1	38	Mar 9, 2023
CDH15	52	Jan 25, 2022
CDH23	2	Jan 24, 2022
CDK4	6	Jan 25, 2022
CDK5	2	Jul 5, 2017
CDK5RAP2	94	Mar 9, 2023
CDK6	6	Mar 9, 2023
CDKL5	64	Jan 25, 2022
CDKN1B	4	Jan 25, 2022
CDKN1C	17	Mar 9, 2023
CDKN2A	8	Mar 9, 2023
CDT1	50	Jan 25, 2022
CEBPA	31	Mar 9, 2023
CEL	27	Mar 9, 2023
CENPE	24	Jan 25, 2022
CENPF	37	Jan 25, 2022
CENPJ	68	Jan 25, 2022
CEP104	1	Jul 5, 2017
CEP120	7	Mar 9, 2023
CEP135	42	Jan 25, 2022
CEP152	98	Jan 25, 2022
CEP164	2	Mar 9, 2023
CEP290	76	Mar 9, 2023
CEP41	3	Mar 9, 2023
CEP63	30	Dec 5, 2022
CEP83	1	Jan 25, 2022
CFB	4	Jan 25, 2022
CFH	4	Jan 25, 2022
CFHR1	4	Jan 25, 2022
CFHR3	2	Jan 25, 2022
CFHR4	11	Jan 25, 2022
CFHR5	9	Jan 25, 2022
CFI	8	Jan 25, 2022
CFL2	2	Sep 15, 2015
CFTR	8	Oct 4, 2017
CFTR-AS1	2	Jul 5, 2017
CHAMP1	1	Jul 5, 2017
CHAT	17	Jul 5, 2017
CHD2	9	Jan 25, 2022
CHD4	4	Mar 9, 2023
CHD7	125	Mar 9, 2023
CHD8	2	Jan 25, 2022
CHEK2	58	Mar 9, 2023
CHKB	4	Jan 25, 2022
CHKB-CPT1B	4	Jan 25, 2022
CHMP1A	5	Jul 5, 2017
CHMP2B	1	Jan 23, 2022
CHRNA1	4	Jan 25, 2022
CHRNA2	7	Jun 27, 2014
CHRNA4	13	Jun 27, 2014
CHRNB1	4	Jun 27, 2014
CHRNB2	4	Oct 4, 2017
CHRND	11	Jan 25, 2022
CHRNE	14	Jan 25, 2022
CHST14	3	Jul 5, 2017
CIC	3	Jan 25, 2022
CIDEC	10	Jan 25, 2022
CIT	21	Jan 25, 2022
CITED2	1	Jan 23, 2022
CKAP2L	1	Mar 9, 2023
CLASP1	2	Jan 25, 2022
CLCC1	4	Jan 25, 2022
CLCN1	1	Jan 23, 2022
CLCN4	8	Jan 25, 2022
CLIC2	1	Jul 5, 2017
CLIP1	26	Jan 25, 2022
CLN3	6	Jul 5, 2017
CLN5	13	Jan 23, 2022
CLN6	8	Jul 5, 2017
CLN8	6	Jul 5, 2017
CLPB	1	Jan 24, 2022
CLRN1	1	Sep 15, 2015
CNKSR2	2	Jan 25, 2022
CNNM4	1	Jul 5, 2017
CNOT1	1	Jan 25, 2022
CNTN1	14	Jul 5, 2017
CNTNAP2	78	Dec 5, 2022
COA7	1	Jan 24, 2022
COASY	1	Jan 24, 2022
COG4	3	Jun 27, 2014
COG8	1	Jan 24, 2022
COL11A2	1	Jul 5, 2017
COL12A1	2	Jan 25, 2022
COL13A1	2	Jan 25, 2022
COL18A1	20	Jan 25, 2022
COL3A1	3	Jan 25, 2022
COL4A1	3	Jan 24, 2022
COL4A2	1	Jan 24, 2022
COL4A3	5	Mar 9, 2023
COL4A4	2	Mar 9, 2023
COL5A1	1	Jul 5, 2017
COL6A1	37	Jan 25, 2022
COL6A2	32	Mar 9, 2023
COL6A3	65	Jan 25, 2022
COLQ	5	Jul 5, 2017
COQ2	4	Mar 9, 2023
COQ4	1	Jun 27, 2014
COQ6	4	Jul 5, 2017
COQ8A	16	Jan 24, 2022
COQ8B	6	Mar 9, 2023
COX15	1	Jun 27, 2014
CP	22	Jan 25, 2022
CPA6	6	Jan 23, 2022
CPLANE1	69	Mar 9, 2023
CPS1	6	Sep 15, 2015
CRADD	3	Jan 25, 2022
CRB2	15	Mar 9, 2023
CRBN	20	Jan 25, 2022
CREBBP	142	Mar 9, 2023
CRIPT	1	Jan 25, 2022
CRPPA	11	Mar 6, 2020
CRPPA-AS1	3	Sep 15, 2015
CRYAB	1	Jul 5, 2017
CSF3R	54	Mar 9, 2023
CSPP1	12	Mar 9, 2023
CST3	3	Mar 9, 2023
CSTB	2	Sep 15, 2015
CTBP1	1	Jan 23, 2022
CTBP1-AS	1	Jan 23, 2022
CTC1	70	Mar 9, 2023
CTCF	13	Jan 25, 2022
CTDP1	2	Oct 4, 2017
CTLA4	3	Mar 9, 2023
CTNNA1	4	Mar 9, 2023
CTNNB1	19	Mar 9, 2023
CTPS1	7	Mar 9, 2023
CTSA	1	Sep 15, 2015
CTSD	8	Jun 27, 2014
CTSF	2	Jul 5, 2017
CUL4B	11	Jan 25, 2022
CUL7	2	Jan 25, 2022
CWF19L1	4	Jun 27, 2014
CXCR4	11	Mar 9, 2023
CYB561D2	1	Jan 25, 2022
CYB5A	2	Jan 25, 2022
CYBA	1	Jan 24, 2022
CYP11A1	6	Jan 25, 2022
CYP11B1	5	Jan 25, 2022
CYP17A1	4	Jan 25, 2022
CYP21A2	1	Jul 5, 2017
CYP24A1	2	Jan 25, 2022
CYP27A1	2	Jul 5, 2017
CYP7B1	2	Jan 24, 2022
CZ1P-ASNS	7	Jan 25, 2022
D2HGDH	54	Dec 5, 2022
DAG1	9	Jan 25, 2022
DARS2	3	Jul 5, 2017
DBT	5	Jan 24, 2022
DCAF17	10	Mar 9, 2023
DCDC2	3	Jan 25, 2022
DCLRE1B	2	Sep 11, 2014
DCPS	1	Jan 25, 2022
DCX	112	Jan 25, 2022
DDHD2	21	Jan 25, 2022
DDX11	3	Mar 9, 2023
DDX3X	2	Jan 25, 2022
DDX41	82	Mar 9, 2023
DEAF1	19	Jan 25, 2022
DEPDC5	5	Jan 24, 2022
DES	14	Jul 5, 2017
DGKE	5	Jan 25, 2022
DHCR24	5	Jan 25, 2022
DHCR7	19	Jan 25, 2022
DHFR	4	Mar 9, 2023
DHH	3	Jan 25, 2022
DHODH	2	Jun 27, 2014
DHX37	3	Mar 9, 2023
DIAPH1	4	Jan 25, 2022
DICER1	16	Mar 9, 2023
DIPK1A	15	Mar 9, 2023
DIS3	11	Mar 9, 2023
DIS3L2	9	Mar 9, 2023
DKC1	20	Jan 25, 2022
DLAT	4	Jul 5, 2017
DLG3	15	Jan 25, 2022
DLG3-AS1	5	Oct 4, 2017
DM1-AS	2	Mar 9, 2023
DMAC2L	5	Jan 25, 2022
DMD	7	Jan 25, 2022
DMP1	1	Jul 5, 2017
DMPK	4	Jun 27, 2014
DMRTA2	5	Jan 25, 2022
DNA2	4	Jan 25, 2022
DNAI1	1	Jan 25, 2022
DNAJB1	2	Jul 5, 2017
DNAJB11	1	Mar 9, 2023
DNAJC21	27	Mar 9, 2023
DNAJC3	2	Jan 25, 2022
DNM1	3	Jan 25, 2022
DNM2	29	Oct 4, 2017
DNMT1	2	Jan 23, 2022
DNMT3A	12	Jan 25, 2022
DNMT3B	2	Jan 25, 2022
DOCK6	1	Jan 24, 2022
DOCK7	3	Jan 25, 2022
DOCK8	46	Mar 9, 2023
DOK7	20	Jan 25, 2022
DOLK	2	Jan 24, 2022
DOP1A	1	Mar 9, 2023
DPAGT1	1	Apr 30, 2014
DPM2	4	Jun 27, 2014
DPYD	4	Jan 24, 2022
DPYD-AS1	1	Jan 24, 2022
DSE	2	Mar 9, 2023
DSP	1	Jan 24, 2022
DTNBP1	11	Jan 25, 2022
DUOX2	4	Jan 25, 2022
DUT	1	Jan 25, 2022
DUT-AS1	1	Jan 25, 2022
DVL1	1	Jan 24, 2022
DYNC1H1	136	Jan 25, 2022
DYNC2H1	31	Mar 9, 2023
DYNC2I1	1	Jul 5, 2017
DYNC2LI1	11	Jan 25, 2022
DYRK1A	28	Jan 25, 2022
DYRK1B	10	Jan 25, 2022
DYSF	38	Jan 25, 2022
DZIP1L	2	Mar 9, 2023
EBF3	3	Jan 24, 2022
EBP	35	Jan 25, 2022
ECEL1	19	Mar 6, 2020
EEF1A2	2	Jan 25, 2022
EEF2	3	Jul 5, 2017
EFCAB13-DT	1	Jan 25, 2022
EFHC1	20	Jan 25, 2022
EFL1	5	Mar 9, 2023
EFNB1	6	Jan 25, 2022
EFTUD2	12	Jan 25, 2022
EGFR	13	Mar 9, 2023
EGLN1	1	Jul 5, 2017
EHMT1	66	Jan 25, 2022
EIF2AK3	24	Jan 25, 2022
EIF2AK3-DT	1	Jan 25, 2022
EIF2B1	1	Mar 9, 2023
EIF2B3	2	Sep 15, 2015
EIF2B4	2	Jun 27, 2014
EIF2B5	2	Jan 24, 2022
EIF2S3	7	Jan 25, 2022
ELAC2	1	Jan 23, 2022
ELANE	25	Mar 9, 2023
ELOVL4	2	Jan 24, 2022
ELOVL5	1	Sep 15, 2015
EMD	1	Jul 5, 2017
EML1	1	Jan 25, 2022
ENG	13	Mar 9, 2023
ENPP1	3	Jan 25, 2022
ENTPD5	4	Jul 5, 2017
EOMES	1	Sep 15, 2015
EP300	49	Mar 9, 2023
EPAS1	1	Jul 5, 2017
EPB41L1	30	Jan 25, 2022
EPCAM	11	Mar 9, 2023
EPG5	1	Sep 15, 2015
EPHA2	1	Jul 5, 2017
EPM2A	5	Oct 4, 2017
EPM2A-DT	2	Oct 4, 2017
ERCC2	1	Jul 5, 2017
ERCC3	1	Jan 24, 2022
ERCC4	53	Mar 9, 2023
ERCC5	7	Jan 24, 2022
ERCC6	19	Mar 9, 2023
ERCC6L2	31	Mar 9, 2023
ERCC8	1	Jun 27, 2014
ERF	2	Jul 5, 2017
ERLIN2	11	Jan 25, 2022
ERMARD	10	Jan 25, 2022
ESCO2	13	Jan 25, 2022
ESR1	4	Jul 5, 2017
ESR2	5	Mar 6, 2020
ETHE1	2	Jul 5, 2017
ETV6	43	Mar 9, 2023
EVC	4	Jan 25, 2022
EVC2	4	Jan 25, 2022
EXO1	1	Jul 5, 2017
EXOSC3	11	Jan 25, 2022
EYA1	3	Mar 9, 2023
EZH2	15	Jan 25, 2022
EZR	21	Jan 25, 2022
FA2H	11	Jan 25, 2022
FAM111A	4	Jan 25, 2022
FAM20A	1	Mar 9, 2023
FAM20C	1	Jan 25, 2022
FANCA	166	Mar 9, 2023
FANCB	27	Jan 25, 2022
FANCC	52	Mar 9, 2023
FANCD2	69	Mar 9, 2023
FANCD2OS	15	Mar 9, 2023
FANCE	26	Mar 9, 2023
FANCF	30	Jan 25, 2022
FANCG	26	Jan 25, 2022
FANCI	75	Mar 9, 2023
FANCL	28	Mar 9, 2023
FANCM	57	Mar 9, 2023
FARS2	1	Jan 24, 2022
FAS	6	Jan 25, 2022
FASLG	1	Jan 25, 2022
FAT2	2	Jan 23, 2022
FAT4	25	Mar 9, 2023
FBN1	6	Mar 9, 2023
FBN2	37	Jan 25, 2022
FBXL3	9	Jan 23, 2022
FBXL4	1	Jan 24, 2022
FBXO11	1	Jan 25, 2022
FBXO31	9	Jan 25, 2022
FEZF1	4	Jan 25, 2022
FEZF1-AS1	1	Jan 25, 2022
FGA	7	Mar 9, 2023
FGF12	2	Jan 25, 2022
FGF17	1	Jan 25, 2022
FGF8	2	Jul 5, 2017
FGFR1	10	Mar 9, 2023
FGFR2	9	Mar 9, 2023
FGFR3	10	Jan 25, 2022
FH	15	Mar 9, 2023
FHL1	1	Jul 5, 2017
FIG4	4	Mar 9, 2023
FIGLA	1	Jan 25, 2022
FKRP	29	Jan 25, 2022
FKTN	15	Jan 25, 2022
FLCN	3	Mar 9, 2023
FLI1	4	Jan 25, 2022
FLNA	109	Mar 9, 2023
FLNC	33	Jan 25, 2022
FLNC-AS1	12	Jan 25, 2022
FLVCR1	2	Jun 27, 2014
FLVCR2	1	Mar 9, 2023
FMN2	32	Jan 25, 2022
FMR1	11	Jan 25, 2022
FOLR1	5	Jan 25, 2022
FOXA2	7	Jan 25, 2022
FOXE1	1	Jul 5, 2017
FOXG1	44	Jan 25, 2022
FOXL2	2	Mar 9, 2023
FOXP1	27	Jan 25, 2022
FOXP2	2	Jan 25, 2022
FOXP3	15	Jan 25, 2022
FOXRED1	1	Oct 4, 2017
FRAS1	28	Mar 9, 2023
FREM2	16	Jan 25, 2022
FRMPD4	27	Jan 25, 2022
FSHB	1	Jan 25, 2022
FTCD	6	Jun 27, 2014
FTL	3	Jan 23, 2022
FTSJ1	6	Jan 25, 2022
FXN	3	Jan 24, 2022
FXYD2	1	Jan 25, 2022
FXYD6-FXYD2	1	Jan 25, 2022
FYB1	4	Mar 9, 2023
G6PC3	11	Feb 18, 2022
GAA	34	Dec 5, 2022
GABRA1	6	Jul 5, 2017
GABRB3	2	Jan 23, 2022
GABRG2	5	Jun 27, 2014
GALC	3	Jan 24, 2022
GALNT12	2	Jan 25, 2022
GAMT	7	Jan 25, 2022
GAN	1	Jun 27, 2014
GANAB	1	Mar 9, 2023
GAREM2	3	Jan 25, 2022
GATA1	10	Jan 25, 2022
GATA2	70	Mar 9, 2023
GATA2-AS1	8	Jan 25, 2022
GATA3	2	Jan 25, 2022
GATA4	13	Jan 25, 2022
GATA6	12	Jan 25, 2022
GATAD1	1	Jan 25, 2022
GATAD2B	16	Jan 25, 2022
GATM	2	Jun 27, 2014
GBA1	1	Sep 15, 2015
GBA2	2	Jan 23, 2022
GBE1	3	Mar 6, 2020
GCDH	3	Jan 24, 2022
GCK	102	Mar 9, 2023
GCM2	5	Mar 9, 2023
GDI1	14	Jan 25, 2022
GEN1	1	Jul 5, 2017
GFAP	1	Jan 23, 2022
GFI1	27	Mar 9, 2023
GFI1B	8	Jan 25, 2022
GFPT1	7	Jul 5, 2017
GH-LCR	23	Oct 4, 2017
GJA1	6	Jan 25, 2022
GJB2	36	Oct 4, 2017
GJC2	1	Jul 5, 2017
GJD2-DT	1	Jan 24, 2022
GLB1	4	Jan 24, 2022
GLI2	5	Jan 25, 2022
GLI3	21	Jan 25, 2022
GLIS2	3	Mar 9, 2023
GLIS3	22	Mar 9, 2023
GLIS3-AS1	2	Mar 9, 2023
GLUD1	19	Dec 5, 2022
GMPPB	4	Jan 24, 2022
GNA11	5	Jan 25, 2022
GNAO1	3	Jan 25, 2022
GNAS	15	Jan 25, 2022
GNPAT	2	Sep 15, 2015
GNRHR	4	Mar 9, 2023
GOSR2	2	Sep 15, 2015
GP1BA	18	Jan 25, 2022
GP1BB	5	Jan 25, 2022
GP9	2	Jan 25, 2022
GPAA1	2	Jan 24, 2022
GPC3	3	Jan 25, 2022
GPC4	1	Jan 25, 2022
GPD1	1	Jan 25, 2022
GPLD1	1	Jul 5, 2017
GPR143	8	Mar 9, 2023
GPR82	1	Sep 11, 2014
GPSM2	7	Jan 25, 2022
GREM1	1	Jan 25, 2022
GRIA3	7	Mar 6, 2020
GRIK2	32	Jan 25, 2022
GRIK3	1	Jul 5, 2017
GRIN1	21	Jan 25, 2022
GRIN2A	44	Mar 9, 2023
GRIN2B	42	Jan 25, 2022
GRIP1	3	Jan 25, 2022
GRM1	5	Jun 27, 2014
GRN	2	Jan 23, 2022
GSEC	1	Jan 25, 2022
GSKIP	1	Mar 9, 2023
GSN	14	Mar 9, 2023
GTF3C2-AS2	2	Jun 27, 2014
GYS1	1	Sep 11, 2014
HADH	9	Jan 25, 2022
HADHA	4	Jan 25, 2022
HAX1	16	Feb 18, 2022
HBB	2	Dec 5, 2022
HCCS	5	Jan 25, 2022
HCFC1	49	Jan 25, 2022
HCN1	2	Jan 25, 2022
HDAC8	14	Mar 9, 2023
HEPACAM	4	Jan 25, 2022
HERC1	10	Jan 25, 2022
HEXA	6	Mar 9, 2023
HEXB	6	Oct 4, 2017
HFE	3	Apr 26, 2018
HFE-AS1	1	Apr 26, 2018
HFM1	2	Jul 5, 2017
HIBCH	1	Jan 24, 2022
HIVEP2	8	Jan 25, 2022
HLCS	1	Jun 27, 2014
HMBS	1	Apr 30, 2014
HNF1A	81	Mar 9, 2023
HNF1B	18	Mar 9, 2023
HNF4A	62	Mar 9, 2023
HNRNPU	2	Jan 25, 2022
HNRNPUL2-BSCL2	9	Jan 25, 2022
HOGA1	1	Mar 9, 2023
HOXA1	1	Jan 25, 2022
HOXA11	3	Mar 9, 2023
HOXA13	3	Jan 25, 2022
HOXB13	3	Mar 9, 2023
HPRT1	3	Jan 25, 2022
HPS1	23	Jan 25, 2022
HPS3	7	Jan 25, 2022
HPS4	11	Jan 25, 2022
HPS5	14	Jan 25, 2022
HPS6	14	Jan 25, 2022
HRAS	2	Mar 9, 2023
HSD11B1	1	Jul 5, 2017
HSD11B1-AS1	1	Jul 5, 2017
HSD17B10	6	Jan 25, 2022
HSD17B3	8	Jan 25, 2022
HSD17B3-AS1	5	Jan 25, 2022
HSD17B4	1	Jan 24, 2022
HSD3B2	4	Mar 9, 2023
HSPD1	3	Jun 27, 2014
HUWE1	57	Jan 25, 2022
IDH2	20	Dec 5, 2022
IDH2-DT	1	Jan 25, 2022
IER3IP1	3	Jan 25, 2022
IFIH1	1	Jul 5, 2017
IFT122	9	Jan 25, 2022
IFT140	11	Jan 25, 2022
IFT172	24	Mar 9, 2023
IFT74	8	Mar 9, 2023
IGBP1	5	Jan 25, 2022
IGF1R	1	Jan 25, 2022
IKZF1	17	Feb 18, 2022
IL11RA	3	Jan 25, 2022
IL17RD	5	Mar 9, 2023
IL1RAPL1	6	Jan 25, 2022
IL2RA	3	Jan 25, 2022
IL4I1	5	Sep 15, 2015
INF2	6	Mar 9, 2023
INPP5E	25	Mar 9, 2023
INS	45	Mar 9, 2023
INS-IGF2	32	Mar 9, 2023
INSL6	18	Mar 9, 2023
INSR	74	Mar 9, 2023
INVS	4	Mar 9, 2023
IQCB1	3	Jan 25, 2022
IQCG	2	Jul 5, 2017
IQSEC2	30	Jan 25, 2022
IRF2BPL	1	Jan 24, 2022
IRF6	1	Jul 5, 2017
ITCH	2	Jan 25, 2022
ITGA2B	13	Jan 25, 2022
ITGA7	19	Jul 5, 2017
ITGB3	17	Jan 25, 2022
ITK	9	Mar 9, 2023
ITPA	1	Jan 25, 2022
ITPR1	13	Jan 24, 2022
IYD	2	Jul 5, 2017
JAG1	6	Mar 9, 2023
JAK2	18	Mar 9, 2023
JMJD8	5	Mar 9, 2023
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KANK1	1	Jan 23, 2022
KAT6A	3	Jan 25, 2022
KAT6B	1	Sep 15, 2015
KATNB1	16	Jan 25, 2022
KATNIP	6	Mar 9, 2023
KBTBD13	11	Jan 25, 2022
KCNA1	4	Jul 5, 2017
KCNA2	1	Jan 24, 2022
KCNC3	5	Jan 24, 2022
KCND3	3	Jul 5, 2017
KCNH5	4	Jan 25, 2022
KCNJ10	17	Jan 25, 2022
KCNJ11	75	Jan 25, 2022
KCNMA1	15	Jan 25, 2022
KCNMA1-AS1	7	Jan 25, 2022
KCNN2	1	Jan 23, 2022
KCNQ1	1	Sep 15, 2015
KCNQ2	27	Jan 25, 2022
KCNQ3	10	Oct 4, 2017
KCNT1	30	Jan 25, 2022
KCTD7	4	Sep 15, 2015
KDM1A	6	Mar 9, 2023
KDM5C	21	Jan 25, 2022
KDM6A	22	Jan 25, 2022
KIAA0586	10	Mar 9, 2023
KIDINS220	5	Jan 25, 2022
KIF11	28	Jan 25, 2022
KIF14	10	Mar 9, 2023
KIF1A	92	Jan 25, 2022
KIF1B	4	Jul 5, 2017
KIF1C	1	Jul 5, 2017
KIF2A	3	Jan 25, 2022
KIF4A	2	Jul 5, 2017
KIF5A	1	Jan 23, 2022
KIF5C	2	Jan 25, 2022
KIF7	32	Mar 9, 2023
KIFBP	16	Jan 25, 2022
KIRREL3	30	Jan 25, 2022
KIRREL3-AS1	3	Mar 6, 2020
KISS1R	2	Mar 9, 2023
KIT	12	Mar 9, 2023
KLF11	16	Mar 9, 2023
KLF8	2	Oct 4, 2017
KLHDC8B	3	Mar 9, 2023
KLHL40	2	Jan 25, 2022
KLHL41	1	Jan 25, 2022
KLLN	26	Jan 25, 2022
KMT2A	27	Jan 25, 2022
KMT2B	1	Jan 23, 2022
KMT2D	245	Mar 9, 2023
KNL1	71	Mar 9, 2023
KPTN	14	Jan 25, 2022
KRT5	1	Jul 5, 2017
KRTCAP3	1	Jan 25, 2022
KSR2	3	Jan 25, 2022
L1CAM	35	Dec 5, 2022
L2HGDH	30	Jan 25, 2022
LAMA1	3	Jul 5, 2017
LAMA2	71	Jan 25, 2022
LAMB1	24	Jan 25, 2022
LAMB2	2	Jan 25, 2022
LAMC3	77	Jan 25, 2022
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LARP7	5	Jan 25, 2022
LARS2	1	Jan 24, 2022
LARS2-AS1	1	Jan 24, 2022
LDB3	2	Jul 5, 2017
LDLR	3	Jan 25, 2022
LDLRAP1	1	Jan 25, 2022
LEP	2	Jan 25, 2022
LEPR	13	Mar 9, 2023
LGI1	1	Apr 30, 2014
LHCGR	8	Mar 9, 2023
LHX3	1	Mar 9, 2023
LIG4	24	Mar 9, 2023
LINS1	21	Jan 25, 2022
LIPC	1	Jan 25, 2022
LIPE	16	Mar 9, 2023
LIPE-AS1	16	Mar 9, 2023
LIX1L-AS1	4	Feb 18, 2022
LMBRD1	1	Jan 24, 2022
LMNA	65	Dec 5, 2022
LMNB1	2	Jan 25, 2022
LMNB2	9	Jan 25, 2022
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LRRC56	2	Mar 9, 2023
LRSAM1	1	Jan 24, 2022
LURAP1L-AS1	12	Jan 25, 2022
LYST	29	Jan 25, 2022
LYZ	3	Jan 25, 2022
LZTR1	1	Mar 9, 2023
MAF	7	Jan 25, 2022
MAFA	4	Mar 9, 2023
MAG	1	Jan 25, 2022
MAGEL2	36	Jan 25, 2022
MAGI2	23	Jan 25, 2022
MAGI2-AS3	1	Apr 30, 2014
MAGT1	6	Mar 9, 2023
MAK16	2	Jan 25, 2022
MAMLD1	6	Jan 25, 2022
MAN1B1	47	Jan 25, 2022
MAN2B1	6	Jan 24, 2022
MAOA	12	Jan 25, 2022
MAP2K2	1	Jan 25, 2022
MAP3K1	17	Mar 9, 2023
MAPK10	4	Sep 15, 2015
MAPK10-AS1	1	Sep 15, 2015
MAPKBP1	8	Mar 9, 2023
MAX	3	Jan 25, 2022
MBD4	13	Jan 25, 2022
MBD5	31	Jan 25, 2022
MC4R	14	Jan 25, 2022
MCM7	1	Sep 15, 2015
MCM9	2	Mar 9, 2023
MCOLN1	1	Jan 24, 2022
MCPH1	99	Mar 9, 2023
MCPH1-AS1	26	Oct 4, 2017
MEA1	2	Jan 25, 2022
MECOM	31	Mar 9, 2023
MECP2	122	Jan 25, 2022
MED12	37	Jan 25, 2022
MED13L	1	Jan 25, 2022
MED17	24	Jan 25, 2022
MED23	20	Jan 25, 2022
MED25	5	Jan 25, 2022
MEF2C	15	Jan 25, 2022
MEF2C-AS2	2	Sep 15, 2015
MEGF10	2	Jan 25, 2022
MEGF8	5	Jan 25, 2022
MEN1	14	Jan 25, 2022
MET	9	Mar 9, 2023
METTL23	7	Jan 25, 2022
METTL5	3	Mar 9, 2023
MFF-DT	5	Mar 9, 2023
MFSD2A	6	Jan 25, 2022
MFSD8	5	Oct 4, 2017
MHRT	6	Jan 24, 2022
MID1	19	Jan 25, 2022
MID2	6	Jan 25, 2022
MIF4GD-DT	5	Jul 5, 2017
MIR302CHG	4	Jan 25, 2022
MITF	6	Mar 9, 2023
MKKS	11	Jan 25, 2022
MKS1	27	Mar 9, 2023
MLC1	10	Jan 24, 2022
MLH1	53	Mar 9, 2023
MLPH	10	Jan 25, 2022
MMAA	1	Jan 24, 2022
MMAB	1	Jun 27, 2014
MMACHC	1	Jul 5, 2017
MMADHC	1	Jan 24, 2022
MME	2	Mar 9, 2023
MMUT	2	Jul 5, 2017
MNX1	10	Jan 25, 2022
MNX1-AS2	4	Jan 25, 2022
MPDZ	26	Jan 25, 2022
MPI	8	Mar 9, 2023
MPL	42	Mar 9, 2023
MPZ	1	Jun 27, 2014
MR1	2	Jun 27, 2014
MRE11	3	Jan 25, 2022
MRPL36	1	Sep 15, 2015
MRTFA	19	Mar 9, 2023
MSH2	74	Mar 9, 2023
MSH3	15	Mar 9, 2023
MSH6	88	Mar 9, 2023
MSTO1	4	Mar 9, 2023
MSX2	2	Jan 25, 2022
MTFMT	2	Jan 24, 2022
MTM1	160	Jan 25, 2022
MTOR	5	Jan 25, 2022
MTPAP	1	Jun 27, 2014
MTRFR	1	Jun 27, 2014
MTTP	7	Jul 5, 2017
MUSK	13	Jul 5, 2017
MUTYH	28	Mar 9, 2023
MVK	5	Jul 5, 2017
MVP-DT	6	Oct 4, 2017
MYBPC1	14	Jul 5, 2017
MYEF2	3	Jan 25, 2022
MYF6	1	Jul 5, 2017
MYH11	7	Sep 15, 2015
MYH2	3	Jan 25, 2022
MYH3	36	Dec 5, 2022
MYH7	26	Jan 25, 2022
MYH8	28	Jan 25, 2022
MYH9	17	Jan 25, 2022
MYHAS	31	Jan 25, 2022
MYO15A	2	Jan 24, 2022
MYO1E	3	Mar 9, 2023
MYO5A	11	Oct 4, 2017
MYO5B	1	Jan 25, 2022
MYO7A	1	Jan 24, 2022
MYOT	3	Jun 27, 2014
MYRF	2	Jan 25, 2022
MYT1L	3	Jan 25, 2022
NAA10	2	Jul 5, 2017
NAF1	18	Mar 9, 2023
NAGA	1	Jul 5, 2017
NALCN	3	Jan 25, 2022
NBEAL2	32	Jan 25, 2022
NBN	52	Mar 9, 2023
NDE1	27	Oct 4, 2017
NDST1	31	Jan 25, 2022
NDUFA10	2	Jun 27, 2014
NDUFA9	1	Jun 27, 2014
NDUFAF1	4	Mar 6, 2020
NDUFAF2	1	Jun 27, 2014
NDUFAF4	2	Jun 27, 2014
NDUFAF5	2	Sep 15, 2015
NDUFAF6	1	Sep 15, 2015
NDUFB3	2	Jan 24, 2022
NDUFS1	2	Jun 27, 2014
NDUFS2	2	Jun 27, 2014
NDUFS4	3	Jun 27, 2014
NDUFS6	1	Sep 15, 2015
NDUFS7	3	Jun 27, 2014
NDUFV2	2	Jun 27, 2014
NEB	101	Jan 25, 2022
NEDD4L	1	Jan 25, 2022
NEK1	8	Jan 25, 2022
NEK8	1	Mar 9, 2023
NEU1	2	Jul 5, 2017
NEUROD1	3	Jan 25, 2022
NEUROG3	3	Jul 5, 2017
NEXMIF	24	Mar 6, 2020
NF1	96	Mar 9, 2023
NF2	6	Mar 9, 2023
NFIA	4	Jul 5, 2017
NFIX	5	Jan 25, 2022
NHEJ1	4	Jul 5, 2017
NHLRC1	4	Jan 24, 2022
NHP2	16	Mar 9, 2023
NHS	35	Jan 25, 2022
NIN	62	Jan 25, 2022
NIPA1	2	Sep 15, 2015
NIPBL	350	Dec 5, 2022
NKIRAS1	8	Mar 9, 2023
NKX2-1	2	Mar 6, 2020
NKX2-2	4	Jan 25, 2022
NKX2-5	14	Oct 4, 2017
NLGN3	15	Jan 25, 2022
NLGN4X	14	Jan 25, 2022
NLRC4	1	Jan 25, 2022
NONO	1	Jan 25, 2022
NOP10	4	Jan 25, 2022
NOP56	5	Jun 27, 2014
NOTCH2	9	Mar 9, 2023
NOTCH3	1	Jul 5, 2017
NPAT	48	Mar 9, 2023
NPC1	14	Jan 25, 2022
NPHP1	12	Mar 9, 2023
NPHP3	8	Mar 9, 2023
NPHP3-ACAD11	9	Mar 9, 2023
NPHP3-AS1	1	Jul 5, 2017
NPHP4	12	Mar 9, 2023
NPHS1	2	Mar 9, 2023
NPHS2	3	Mar 9, 2023
NPM1	3	Mar 9, 2023
NR0B1	3	Jan 25, 2022
NR0B2	3	Jan 25, 2022
NR2F1	1	Jan 25, 2022
NR2F2	1	Mar 9, 2023
NR3C2	2	Mar 9, 2023
NR5A1	14	Mar 9, 2023
NRAS	1	Sep 15, 2015
NRXN1	66	Dec 5, 2022
NRXN2	53	Jan 25, 2022
NSD1	269	Mar 9, 2023
NSD2	1	Jul 5, 2017
NSDHL	21	Jan 25, 2022
NSMF	4	Mar 9, 2023
NSUN2	40	Jan 25, 2022
NT5DC4	1	Mar 9, 2023
NTHL1	4	Mar 9, 2023
NTRK2	12	Jan 25, 2022
NUDC	3	Jan 25, 2022
NUP62	5	Sep 15, 2015
OBSL1	2	Jan 25, 2022
OCA2	45	Mar 9, 2023
OCLN	12	Jan 25, 2022
OCRL	16	Mar 9, 2023
OFD1	34	Mar 9, 2023
OPA1	1	Jul 5, 2017
OPA3	1	Jun 27, 2014
OPHN1	22	Jan 25, 2022
ORC1	34	Jan 25, 2022
ORC4	15	Jan 25, 2022
ORC6	8	Jul 5, 2017
OTC	2	Jan 25, 2022
OTUD4	1	Sep 15, 2015
OXTR	3	Jun 27, 2014
PACS1	35	Jan 25, 2022
PAFAH1B1	111	Dec 5, 2022
PAH	2	Jan 24, 2022
PAK3	7	Jan 25, 2022
PALB2	76	Mar 9, 2023
PALLD	1	Sep 15, 2015
PANK2	2	Mar 9, 2023
PARN	40	Mar 9, 2023
PAX4	19	Mar 9, 2023
PAX5	30	Mar 9, 2023
PAX8	2	Jul 5, 2017
PAX8-AS1	2	Jul 5, 2017
PC	2	Jul 5, 2017
PCDH19	44	Dec 5, 2022
PCLO	5	Jan 25, 2022
PCNT	413	Mar 9, 2023
PCSK1	11	Jan 25, 2022
PCSK9	2	Jan 25, 2022
PDE4D	2	Jan 25, 2022
PDGFRA	10	Mar 9, 2023
PDGFRB	1	Jan 23, 2022
PDHA1	5	Jan 25, 2022
PDHB	1	Jun 27, 2014
PDSS1	2	Mar 9, 2023
PDX1	14	Mar 9, 2023
PDYN	5	Jan 23, 2022
PDYN-AS1	5	Jan 23, 2022
PDZD7	1	Jan 24, 2022
PEX1	5	Mar 9, 2023
PEX10	3	Jul 5, 2017
PEX12	1	Jan 24, 2022
PEX16	1	Jan 24, 2022
PEX2	1	Sep 15, 2015
PEX6	1	Jul 5, 2017
PEX7	6	Jul 5, 2017
PFAS	3	Feb 18, 2022
PFN1	1	Jan 23, 2022
PGAP1	15	Jan 25, 2022
PGBD3	2	Jan 25, 2022
PGM1	8	Jan 25, 2022
PGM3	5	Mar 9, 2023
PHC1	15	Jan 25, 2022
PHF6	4	Sep 15, 2015
PHF8	11	Jan 25, 2022
PHGDH	2	Jan 25, 2022
PHIP	3	Jan 25, 2022
PHOX2B	5	Mar 9, 2023
PHOX2B-AS1	1	Mar 9, 2023
PHYH	4	Jan 24, 2022
PI4KA	4	Jan 25, 2022
PIBF1	2	Jan 25, 2022
PIEZO2	7	Jan 25, 2022
PIGA	1	Sep 15, 2015
PIGG	1	Mar 9, 2023
PIGL	19	Sep 11, 2014
PIK3CA	2	Jan 25, 2022
PIK3CD	18	Mar 9, 2023
PIK3R1	17	Dec 5, 2022
PIK3R2	6	Jan 25, 2022
PIK3R5	7	Mar 6, 2020
PKD1	22	Mar 9, 2023
PKD1-AS1	1	Mar 9, 2023
PKD2	9	Mar 9, 2023
PKD2L2-DT	3	Jun 27, 2014
PKHD1	14	Mar 9, 2023
PLA2G6	72	Jan 25, 2022
PLCB1	26	Mar 6, 2020
PLEC	118	Mar 9, 2023
PLEKHG4	3	Jun 27, 2014
PLIN1	16	Mar 9, 2023
PLK4	10	Jan 25, 2022
PLP1	6	Jan 25, 2022
PLUT	3	Jan 25, 2022
PMM2	21	Mar 9, 2023
PMP22	1	Sep 15, 2015
PMS1	10	Jan 25, 2022
PMS2	84	Mar 9, 2023
PNKP	63	Jan 25, 2022
PNP	1	Mar 9, 2023
PNPLA6	4	Jan 24, 2022
PNPO	6	Jan 25, 2022
POC1A	6	Sep 15, 2015
POGZ	1	Jul 5, 2017
POLD1	56	Jan 25, 2022
POLE	74	Mar 9, 2023
POLG	37	Mar 9, 2023
POLGARF	37	Mar 9, 2023
POLR1C	6	Jan 24, 2022
POLR3A	9	Jan 24, 2022
POLR3B	6	Sep 15, 2015
POMC	11	Mar 9, 2023
POMGNT1	19	Jan 25, 2022
POMGNT2	19	Dec 5, 2022
POMK	7	Jan 25, 2022
POMT1	36	Jan 25, 2022
POMT2	21	Jan 25, 2022
POR	10	Mar 9, 2023
POT1	43	Mar 9, 2023
PPARG	28	Jan 25, 2022
PPP1R15B	8	Mar 9, 2023
PPP1R3A	1	Jul 5, 2017
PPP2R5D	2	Jan 25, 2022
PPT1	7	Jan 24, 2022
PQBP1	6	Jan 25, 2022
PRADX	2	Jun 27, 2014
PRDM9	3	Jul 5, 2017
PREPL	5	Jan 25, 2022
PRF1	16	Mar 9, 2023
PRICKLE1	10	Sep 15, 2015
PRICKLE2	7	Sep 15, 2015
PRICKLE2-AS3	1	Jun 27, 2014
PRKACG	3	Jan 25, 2022
PRKAR1A	5	Mar 9, 2023
PRKCG	8	Jan 24, 2022
PRKCSH	4	Mar 9, 2023
PRKN	2	Jan 24, 2022
PRMT7	6	Mar 9, 2023
PRNP	2	Jan 24, 2022
PROK2	2	Jan 25, 2022
PROKR2	4	Mar 9, 2023
PROP1	1	Jul 5, 2017
PRPH2	1	Jan 24, 2022
PRPS1	2	Jan 25, 2022
PRRT2	6	Oct 4, 2017
PRSS12	39	Jan 25, 2022
PRSS37	1	Jul 5, 2017
PRX	6	Jun 27, 2014
PSAT1	1	Jan 24, 2022
PSMB8	3	Jan 25, 2022
PSMD12	1	Jan 25, 2022
PTCH1	24	Mar 9, 2023
PTCHD1	17	Jan 25, 2022
PTEN	59	Mar 9, 2023
PTF1A	5	Jan 25, 2022
PTH	1	Jan 25, 2022
PTH1R	2	Mar 9, 2023
PTPN11	20	Jan 25, 2022
PTPRJ	4	Mar 9, 2023
PTS	1	Jul 5, 2017
PURA	6	Jan 25, 2022
PYCR2	8	Jan 25, 2022
PYGM	1	Jan 25, 2022
QARS1	3	Mar 9, 2023
QDPR	2	Jan 24, 2022
R3HDML-AS1	13	Jan 25, 2022
RAB18	6	Jan 25, 2022
RAB23	2	Jul 5, 2017
RAB27A	2	Jul 5, 2017
RAB39B	5	Jul 5, 2017
RAB3GAP1	31	Jan 25, 2022
RAB3GAP2	34	Jan 25, 2022
RAB9B	6	Jan 25, 2022
RAC1	1	Jan 24, 2022
RAD21	14	Jan 23, 2022
RAD50	16	Jan 25, 2022
RAD51	13	Jan 25, 2022
RAD51C	20	Mar 9, 2023
RAD51D	14	Mar 9, 2023
RAD51L3-RFFL	14	Mar 9, 2023
RAI1	83	Mar 9, 2023
RAPSN	7	Jan 25, 2022
RARS2	17	Jan 24, 2022
RASGRP1	5	Mar 9, 2023
RB1	4	Mar 9, 2023
RBBP6	25	Mar 9, 2023
RBBP8	30	Mar 9, 2023
RBM10	1	Jul 5, 2017
RBM8A	8	Feb 18, 2022
RECQL4	68	Mar 9, 2023
REEP1	1	Jun 27, 2014
RELN	121	Jan 25, 2022
REN	1	Jan 25, 2022
RERE	1	Mar 9, 2023
RET	44	Mar 9, 2023
RFT1	1	Jan 24, 2022
RFX6	22	Mar 9, 2023
RIF1	22	Jan 24, 2022
RIN2	17	Jan 25, 2022
RIPK4	6	Jan 25, 2022
RIT1	1	Jan 25, 2022
RLIG1	1	Jun 27, 2014
RLIM	1	Jul 5, 2017
RMND5B	4	Jan 25, 2022
RNASEH1	1	Jan 23, 2022
RNASET2	1	Jul 5, 2017
RNF125	1	Jul 5, 2017
RNF135	4	Jan 25, 2022
RNF17	9	Sep 15, 2015
RNF170	1	Apr 30, 2014
RNF216	2	Sep 15, 2015
RNF43	4	Jan 25, 2022
RNU4ATAC	2	Jan 25, 2022
ROGDI	1	Jun 27, 2014
ROR2	21	Jan 25, 2022
RP1L1	1	Jan 24, 2022
RPGRIP1L	25	Mar 9, 2023
RPL10	2	Jun 27, 2014
RPL11	3	Jan 25, 2022
RPL15	8	Mar 9, 2023
RPL23	2	Jan 25, 2022
RPL26	2	Mar 9, 2023
RPL27	2	Mar 9, 2023
RPL31	1	Jan 25, 2022
RPL35	1	Mar 9, 2023
RPL35A	2	Jul 5, 2017
RPL5	17	Mar 9, 2023
RPS10	6	Jan 25, 2022
RPS10-NUDT3	6	Jan 25, 2022
RPS17	1	Mar 9, 2023
RPS19	12	Mar 9, 2023
RPS24	9	Jan 25, 2022
RPS26	7	Jan 25, 2022
RPS27	1	Jan 25, 2022
RPS6KA3	14	Jan 25, 2022
RPS7	5	Jan 25, 2022
RRM2B	1	Jan 24, 2022
RS1	10	Jan 25, 2022
RSPO1	1	Jan 25, 2022
RTEL1	76	Mar 9, 2023
RTEL1-TNFRSF6B	76	Mar 9, 2023
RTN2	1	Jun 27, 2014
RTN4IP1	1	Jan 23, 2022
RTTN	71	Jan 25, 2022
RUBCN	4	Jun 27, 2014
RUNX1	44	Jan 25, 2022
RUNX1-AS1	5	Jan 25, 2022
RUNX2	4	Jan 25, 2022
RUVBL1	1	Mar 9, 2023
RXYLT1	3	Jul 5, 2017
RYR1	174	Jan 25, 2022
RYR2	1	Jan 24, 2022
SACS	24	Jan 25, 2022
SALL1	5	Jan 25, 2022
SALL4	1	Jan 23, 2022
SAMD9	103	Mar 9, 2023
SAMD9L	75	Mar 9, 2023
SASS6	7	Jan 25, 2022
SATB2	3	Jan 25, 2022
SBDS	11	Mar 9, 2023
SBF2	35	Jan 25, 2022
SBF2-AS1	10	Jan 25, 2022
SCAMP4	15	Jan 25, 2022
SCARB2	1	Jan 25, 2022
SCARF2	5	Jan 25, 2022
SCN11A	1	Jul 5, 2017
SCN1A	39	Jan 25, 2022
SCN1A-AS1	27	Jul 5, 2017
SCN1B	7	Jul 5, 2017
SCN2A	72	Jan 25, 2022
SCN4A	31	Jan 25, 2022
SCN5A	1	Jan 23, 2022
SCN8A	26	Jan 25, 2022
SCN9A	30	Jul 5, 2017
SCNN1B	2	Mar 9, 2023
SCO2	2	Jun 27, 2014
SDCCAG8	17	Jan 25, 2022
SDHA	40	Mar 9, 2023
SDHAF2	5	Jan 25, 2022
SDHB	9	Jan 25, 2022
SDHC	4	Jan 25, 2022
SDHD	10	Mar 9, 2023
SEC23B	1	Jan 25, 2022
SEC61A1	1	Mar 9, 2023
SEC63	1	Mar 9, 2023
SELENON	12	Oct 4, 2017
SEMA3A	3	Jan 25, 2022
SEPSECS	8	Mar 6, 2020
SEPT5-GP1BB	5	Jan 25, 2022
SERPING1	1	Mar 9, 2023
SETBP1	30	Mar 9, 2023
SETD2	24	Jan 25, 2022
SETD5	21	Jan 25, 2022
SETX	12	Jan 23, 2022
SF3B4	10	Jan 25, 2022
SFTA3	2	Mar 6, 2020
SFXN4	1	Jul 5, 2017
SGCA	5	Jul 5, 2017
SGCB	2	Jan 25, 2022
SGCD	3	Jun 27, 2014
SGCE	1	Jul 5, 2017
SGCG	6	Jan 25, 2022
SGPL1	2	Mar 9, 2023
SH2B1	2	Jan 25, 2022
SH2B3	13	Mar 9, 2023
SH2D1A	3	Jan 25, 2022
SH3TC2	7	Jan 24, 2022
SHANK2	44	Jan 25, 2022
SHANK3	18	Jan 25, 2022
SHH	1	Jul 5, 2017
SHLD2	1	Jan 25, 2022
SHOC2	1	Sep 15, 2015
SHROOM4	30	Dec 5, 2022
SIL1	2	Jan 25, 2022
SIM1	9	Jan 25, 2022
SIM1-AS1	2	Jan 25, 2022
SIN3A	4	Jan 25, 2022
SIX5	6	Mar 9, 2023
SKI	3	Jan 25, 2022
SLA	1	Jul 5, 2017
SLC12A1	1	Mar 9, 2023
SLC12A6	19	Jul 5, 2017
SLC13A5	3	Jan 25, 2022
SLC16A1	17	Mar 9, 2023
SLC16A2	28	Jan 25, 2022
SLC17A5	2	Jan 24, 2022
SLC19A1	9	Jan 25, 2022
SLC19A2	5	Mar 9, 2023
SLC19A3	10	Jan 24, 2022
SLC1A1	1	Sep 15, 2015
SLC1A2	1	Jan 25, 2022
SLC1A3	2	Jul 5, 2017
SLC1A4	6	Mar 9, 2023
SLC20A2	3	Jan 23, 2022
SLC24A5	4	Jan 25, 2022
SLC25A1	9	Jan 25, 2022
SLC25A19	14	Jan 25, 2022
SLC25A22	20	Jul 5, 2017
SLC26A2	1	Jul 5, 2017
SLC26A4	3	Jan 25, 2022
SLC26A5-AS1	19	Jan 25, 2022
SLC29A3	16	Sep 15, 2015
SLC2A1	46	Jan 25, 2022
SLC2A2	7	Jan 25, 2022
SLC30A6	1	Jan 25, 2022
SLC33A1	1	Jan 23, 2022
SLC34A1	1	Mar 9, 2023
SLC34A3	3	Jul 5, 2017
SLC35A1	1	Jun 27, 2014
SLC35D2-HSD17B3	8	Jan 25, 2022
SLC36A1	2	Jan 23, 2022
SLC3A1	3	Mar 9, 2023
SLC45A2	16	Jan 25, 2022
SLC4A1	1	Mar 9, 2023
SLC4A4	1	Mar 9, 2023
SLC52A2	1	Sep 15, 2015
SLC6A1	1	Jan 24, 2022
SLC6A17	14	Jan 25, 2022
SLC6A17-AS1	1	Jan 25, 2022
SLC6A19	5	Jul 5, 2017
SLC6A8	24	Jan 25, 2022
SLC9A6	25	Jan 25, 2022
SLFN14	6	Jan 25, 2022
SLX4	146	Mar 9, 2023
SMAD4	14	Mar 9, 2023
SMAD6	1	Jul 5, 2017
SMARCA2	41	Jan 25, 2022
SMARCA4	83	Mar 9, 2023
SMARCB1	10	Jan 25, 2022
SMARCC2	1	Jan 25, 2022
SMARCE1	4	Jan 25, 2022
SMC1A	44	Jan 25, 2022
SMC3	36	Jan 25, 2022
SMC5	1	Mar 9, 2023
SMPD1	1	Sep 15, 2015
SMPD4	2	Mar 9, 2023
SMS	3	Sep 15, 2015
SNAP29	10	Jan 25, 2022
SNHG14	79	Mar 9, 2023
SNHG8	1	Oct 4, 2017
SOBP	34	Jan 25, 2022
SOD1	1	Jul 5, 2017
SON	4	Jan 25, 2022
SOS1	5	Jan 25, 2022
SOX11	7	Jan 25, 2022
SOX2	1	Jan 25, 2022
SOX2-OT	1	Jan 25, 2022
SOX3	2	Jan 25, 2022
SOX9	3	Mar 9, 2023
SPART	1	Jun 27, 2014
SPAST	4	Jan 24, 2022
SPATA22	1	Jan 24, 2022
SPATA6L	1	Sep 15, 2015
SPECC1L	10	Mar 9, 2023
SPECC1L-ADORA2A	10	Mar 9, 2023
SPEG	5	Mar 9, 2023
SPG11	13	Jan 24, 2022
SPG7	19	Mar 9, 2023
SPR	1	Mar 9, 2023
SPRED1	1	Jan 25, 2022
SPTAN1	77	Jan 25, 2022
SPTBN2	12	Jan 25, 2022
SQSTM1	1	Jan 24, 2022
SRC	6	Jan 25, 2022
SRCAP	14	Mar 9, 2023
SRD5A2	11	Mar 9, 2023
SRD5A3	4	Jul 5, 2017
SRD5A3-AS1	1	Sep 15, 2015
SRP54	3	Jan 25, 2022
SRP72	49	Mar 9, 2023
SRPX2	16	Jan 25, 2022
SRY	3	Jan 25, 2022
SSUH2	2	Jun 27, 2014
ST3GAL3	25	Jan 25, 2022
ST3GAL4	23	Mar 6, 2020
ST3GAL5	4	Jul 5, 2017
STAC3	1	Jan 25, 2022
STAMBP	17	Jan 25, 2022
STAR	2	Jan 25, 2022
STAT1	3	Jan 25, 2022
STAT3	6	Mar 9, 2023
STIL	39	Jan 25, 2022
STK11	18	Mar 9, 2023
STON1-GTF2A1L	8	Mar 9, 2023
STRADA	3	Jan 25, 2022
STUB1	7	Mar 9, 2023
STX16	2	Jan 25, 2022
STX16-NPEPL1	2	Jan 25, 2022
STXBP1	30	Dec 5, 2022
STXBP2	14	Mar 9, 2023
SUCLA2	1	Mar 9, 2023
SUCLG1	1	Sep 15, 2015
SUFU	6	Mar 9, 2023
SUOX	2	Jan 25, 2022
SURF1	1	Jul 5, 2017
SUZ12	1	Mar 9, 2023
SVIL	1	Mar 9, 2023
SYN1	22	Jan 25, 2022
SYNE1	117	Mar 9, 2023
SYNE1-AS1	1	Jul 5, 2017
SYNE2	77	Jan 25, 2022
SYNGAP1	46	Jan 25, 2022
SYNGAP1-AS1	35	Jan 25, 2022
SYP	4	Jan 25, 2022
SYP-AS1	1	Sep 15, 2015
SYT14	2	Sep 15, 2015
SZT2	21	Jan 25, 2022
TACR3	6	Mar 9, 2023
TACR3-AS1	4	Jan 25, 2022
TAF2	9	Jan 25, 2022
TBC1D20	5	Jan 25, 2022
TBC1D23	3	Jan 25, 2022
TBC1D24	22	Jan 25, 2022
TBC1D4	32	Jan 25, 2022
TBC1D7	3	Jan 25, 2022
TBC1D7-LOC100130357	3	Jan 25, 2022
TBCD	1	Jan 23, 2022
TBCE	4	Jan 25, 2022
TBL1XR1	1	Jan 25, 2022
TBP	5	Sep 15, 2015
TBX1	2	Jan 25, 2022
TBX15	2	Mar 9, 2023
TCAP	4	Oct 4, 2017
TCF12	3	Jul 5, 2017
TCF20	5	Jan 25, 2022
TCF4	53	Jan 25, 2022
TCF4-AS1	3	Jan 25, 2022
TCOF1	21	Jan 25, 2022
TCTN1	11	Mar 9, 2023
TCTN2	24	Mar 9, 2023
TCTN3	10	Mar 9, 2023
TECR	15	Mar 6, 2020
TELO2	3	Jan 23, 2022
TERC	23	Mar 9, 2023
TERF2IP	1	Mar 9, 2023
TERT	152	Mar 9, 2023
TET2	29	Mar 9, 2023
TET2-AS1	29	Mar 9, 2023
TFG	3	Mar 9, 2023
TG	11	Jan 25, 2022
TGFBR1	1	Jan 25, 2022
TGFBR2	1	Jul 5, 2017
TGM1	1	Jan 25, 2022
TGM6	6	Jan 25, 2022
TH2LCRR	1	Jan 25, 2022
THAP1	1	Jan 24, 2022
THBD	4	Jan 25, 2022
THG1L	1	Jan 24, 2022
THRA	2	Jan 25, 2022
THRB	4	Jan 25, 2022
TIA1	1	Mar 9, 2023
TIMM50	1	Jan 23, 2022
TIMMDC1	1	Jan 23, 2022
TINF2	26	Mar 9, 2023
TMEM127	5	Jan 25, 2022
TMEM138	2	Jul 5, 2017
TMEM186	6	Jan 25, 2022
TMEM216	3	Jan 24, 2022
TMEM231	11	Mar 9, 2023
TMEM237	4	Sep 15, 2015
TMEM240	2	Jul 5, 2017
TMEM43	6	Jan 25, 2022
TMEM67	24	Jan 25, 2022
TMEM70	4	Jun 27, 2014
TMEM94	2	Jan 25, 2022
TMPPE	2	Jun 27, 2014
TMPRSS3	1	Jul 5, 2017
TNFRSF13B	5	Jan 25, 2022
TNFRSF9	2	Jan 25, 2022
TNNI2	7	Jul 5, 2017
TNNI3	2	Jun 27, 2014
TNNT1	4	Jul 5, 2017
TNNT3	7	Jul 5, 2017
TNXB	3	Jan 25, 2022
TOE1	8	Jan 25, 2022
TP53	46	Mar 9, 2023
TP53BP1	4	Dec 5, 2022
TPM2	3	Jul 5, 2017
TPM3	2	Sep 15, 2015
TPO	4	Jan 25, 2022
TPP1	12	Mar 6, 2020
TPRKB	1	Jan 23, 2022
TRAF3IP1	1	Mar 9, 2023
TRAIP	2	Jan 25, 2022
TRAPPC11	1	Jul 5, 2017
TRAPPC9	122	Dec 5, 2022
TRIM32	5	Mar 9, 2023
TRIM37	3	Jan 25, 2022
TRIO	11	Jan 25, 2022
TRMT10A	11	Jan 25, 2022
TRNT1	3	Mar 6, 2020
TSC1	20	Mar 9, 2023
TSC2	71	Mar 9, 2023
TSEN2	35	Jan 25, 2022
TSEN34	12	Jan 25, 2022
TSEN54	46	Dec 5, 2022
TSHB	1	Dec 5, 2022
TSHR	4	Jan 25, 2022
TSPAN1	16	Jan 25, 2022
TSPAN31	3	Jan 25, 2022
TSPAN7	8	Jan 25, 2022
TSPYL1	2	Mar 9, 2023
TSTD3	12	Mar 9, 2023
TTBK2	3	Jan 24, 2022
TTC19	3	Jan 24, 2022
TTC21B	26	Mar 9, 2023
TTC21B-AS1	4	Oct 4, 2017
TTC36-AS1	1	Sep 15, 2015
TTC8	7	Jan 25, 2022
TTI2	15	Jan 25, 2022
TTN	455	Mar 9, 2023
TTN-AS1	234	Mar 9, 2023
TTPA	2	Mar 9, 2023
TTR	4	Jan 25, 2022
TUBA1A	52	Jan 25, 2022
TUBA8	11	Oct 4, 2017
TUBB	2	Jan 25, 2022
TUBB1	11	Mar 9, 2023
TUBB2A	6	Jan 25, 2022
TUBB2B	21	Jan 25, 2022
TUBB3	28	Jan 25, 2022
TUBB4A	3	Jan 25, 2022
TUBG1	7	Jan 25, 2022
TUBGCP2	2	Mar 9, 2023
TUBGCP4	17	Dec 5, 2022
TUBGCP6	57	Mar 9, 2023
TUSC3	12	Jan 25, 2022
TWIST1	2	Jan 25, 2022
TYMP	3	Jul 5, 2017
TYR	47	Jan 25, 2022
TYRP1	17	Jan 25, 2022
UACA	1	Jul 5, 2017
UBA5	1	Jan 24, 2022
UBE2A	1	Jul 5, 2017
UBE2T	3	Jan 25, 2022
UBE3A	79	Mar 9, 2023
UBR1	8	Jan 25, 2022
UCP2	21	Mar 9, 2023
UCP3	10	Mar 9, 2023
UGT1A	36	Jan 25, 2022
UGT1A1	36	Jan 25, 2022
UGT1A10	36	Jan 25, 2022
UGT1A3	36	Jan 25, 2022
UGT1A4	36	Jan 25, 2022
UGT1A5	36	Jan 25, 2022
UGT1A6	36	Jan 25, 2022
UGT1A7	36	Jan 25, 2022
UGT1A8	36	Jan 25, 2022
UGT1A9	36	Jan 25, 2022
UIMC1	1	Jul 5, 2017
UMOD	3	Mar 9, 2023
UNC13D	26	Mar 9, 2023
UPF3B	6	Jul 5, 2017
UROC1	3	Sep 15, 2015
USB1	14	Mar 9, 2023
USH1G	1	Jan 24, 2022
USP45	12	Mar 9, 2023
USP9X	2	Jan 25, 2022
UTP23	1	Sep 11, 2014
VARS1	2	Jan 23, 2022
VCP	3	Jan 25, 2022
VDR	3	Jan 25, 2022
VHL	15	Jan 25, 2022
VLDLR	57	Jan 25, 2022
VLDLR-AS1	8	Jan 25, 2022
VPS13B	146	Mar 9, 2023
VPS13D	2	Jan 25, 2022
VPS33B	1	Jul 5, 2017
VPS45	22	Mar 9, 2023
VPS53	3	Jan 25, 2022
VRK1	6	Jul 5, 2017
VRK2	11	Mar 9, 2023
VWF	30	Mar 9, 2023
WARS2	2	Jan 24, 2022
WAS	22	Mar 9, 2023
WASHC4	21	Jan 25, 2022
WASHC5	4	Jan 23, 2022
WDPCP	7	Mar 9, 2023
WDR11	2	Jan 25, 2022
WDR19	8	Mar 9, 2023
WDR26	1	Jan 23, 2022
WDR35	7	Jul 5, 2017
WDR45	10	Jan 25, 2022
WDR62	133	Jan 25, 2022
WDR81	16	Jan 25, 2022
WFS1	54	Mar 9, 2023
WNK4	1	Mar 9, 2023
WNT4	1	Jan 25, 2022
WNT5A	7	Oct 4, 2017
WRAP53	30	Mar 9, 2023
WRN	30	Mar 9, 2023
WT1	12	Jan 25, 2022
WWOX	24	Mar 9, 2023
XDH	1	Mar 9, 2023
XPNPEP3	1	Mar 9, 2023
XRCC2	9	Mar 9, 2023
XRCC3	3	Jan 25, 2022
ZBTB20	5	Jan 25, 2022
ZBTB20-AS1	1	Jan 25, 2022
ZC3H14	25	Jan 25, 2022
ZDHHC15	9	Jan 25, 2022
ZDHHC24	16	Jan 25, 2022
ZDHHC9	2	Jan 25, 2022
ZEB1	1	Jul 5, 2017
ZEB2	66	Jan 25, 2022
ZFP57	16	Mar 9, 2023
ZFPM2	12	Jan 25, 2022
ZFPM2-AS1	11	Jan 25, 2022
ZFYVE26	11	Jan 24, 2022
ZFYVE27	4	Sep 15, 2015
ZIC2	3	Jan 25, 2022
ZIC4	1	Jun 27, 2014
ZMPSTE24	4	Jan 25, 2022
ZMYND11	5	Jan 25, 2022
ZNF276	19	Mar 9, 2023
ZNF335	58	Jan 25, 2022
ZNF407	82	Jan 25, 2022
ZNF41	2	Jun 27, 2014
ZNF423	3	Mar 9, 2023
ZNF431	3	Jan 25, 2022
ZNF469	5	Jan 23, 2022
ZNF526	25	Jan 25, 2022
ZNF592	3	Sep 15, 2015
ZNF674	6	Jun 27, 2014
ZNF711	10	Jan 25, 2022
ZNF81	18	Jan 25, 2022
ZRANB3	6	Mar 6, 2020
ZSWIM6	2	Jan 25, 2022

Condition

Enter text to narrow down the list

Name	Submissions	Last Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	3	Mar 6, 2020
46,XX sex reversal 1	1	Jul 5, 2017
46,XY sex reversal 1	1	Jul 5, 2017
46,XY sex reversal 3	3	Jul 5, 2017
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	1	Jul 5, 2017
ALG6-congenital disorder of glycosylation 1C	1	Sep 15, 2015
Abetalipoproteinaemia	1	Jul 5, 2017
Abnormal cardiovascular system morphology	4	Sep 15, 2015
Abnormal cortical gyration	10	Sep 15, 2015
Acrodysostosis 2 with or without hormone resistance	1	Jul 5, 2017
Acute lymphoid leukemia	1	Jul 5, 2017
Acute myeloid leukemia	4	Dec 5, 2022
Adenylosuccinate lyase deficiency	3	Jul 5, 2017
Agenesis of the corpus callosum with peripheral neuropathy	4	Jul 5, 2017
Allan-Herndon-Dudley syndrome	14	Jul 5, 2017
Alpha-N-acetylgalactosaminidase deficiency	1	Jul 5, 2017
Alpha-thalassemia/intellectual disability syndrome	1	Oct 4, 2017
Alstrom syndrome	5	Jul 5, 2017
Alternating hemiplegia of childhood 2	7	Jul 5, 2017
Amyotrophic lateral sclerosis type 1	1	Jul 5, 2017
Androgen resistance syndrome	2	Jul 5, 2017
Angelman syndrome	45	Mar 6, 2020
Aortic aneurysm, familial thoracic 4	2	Sep 15, 2015
Argininosuccinate lyase deficiency	2	Sep 15, 2015
Arthrogryposis, renal dysfunction, and cholestasis 1	1	Jul 5, 2017
Arthyrgryposis, distal, type 2B	2	Sep 15, 2015
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	2	Jul 5, 2017
Ataxia-telangiectasia syndrome	4	Jul 5, 2017
Autism, susceptibility to, X-linked 4	1	Jul 5, 2017
Autosomal dominant Robinow syndrome 1	6	Oct 4, 2017
Autosomal dominant nocturnal frontal lobe epilepsy 3	1	Sep 11, 2014
Autosomal dominant nocturnal frontal lobe epilepsy 5	1	Apr 30, 2014
Autosomal dominant sensory ataxia 1	1	Apr 30, 2014
Autosomal recessive Robinow syndrome	4	Sep 11, 2014
Autosomal recessive ataxia due to ubiquinone deficiency	9	Jul 5, 2017
Autosomal recessive ataxia, Beauce type	9	Jul 5, 2017
Autosomal recessive inherited pseudoxanthoma elasticum	2	Jul 5, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2A	5	Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2B	1	Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2D	2	Jul 5, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2L	1	Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2N	2	Apr 30, 2014
Autosomal recessive nonsyndromic hearing loss 1A	4	Oct 4, 2017
Autosomal recessive nonsyndromic hearing loss 3	1	Jul 5, 2017
Autosomal recessive nonsyndromic hearing loss 8	1	Jul 5, 2017
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	1	Jul 5, 2017
Autosomal recessive spinocerebellar ataxia 10	5	Dec 5, 2022
Autosomal recessive spinocerebellar ataxia 16	3	Jul 5, 2017
BAP1-related tumor predisposition syndrome	1	Jul 5, 2017
Baraitser-Winter syndrome 1	4	Jul 5, 2017
Baraitser-winter syndrome 2	5	Jul 5, 2017
Bardet-Biedl syndrome 1	2	Jul 5, 2017
Bardet-Biedl syndrome 10	3	Jul 5, 2017
Bardet-Biedl syndrome 12	2	Jul 5, 2017
Bardet-Biedl syndrome 14	1	Jul 5, 2017
Bardet-Biedl syndrome 5	1	Jul 5, 2017
Beckwith-Wiedemann syndrome	1	Sep 15, 2015
Bernard-Soulier syndrome, type A1	1	Jul 5, 2017
Bernard-Soulier syndrome, type B	1	Sep 11, 2014
Bilateral frontoparietal polymicrogyria	23	Sep 15, 2015
Biotinidase deficiency	4	Jul 5, 2017
Bleeding disorder, platelet-type, 21	1	Jul 5, 2017
Brachydactyly, type B1Robinow syndrome, autosomal recessive	2	Sep 11, 2014
Brain small vessel disease 1 with or without ocular anomalies	1	Jul 5, 2017
Brain-lung-thyroid syndrome	1	Jul 5, 2017
Branched-chain keto acid dehydrogenase kinase deficiency	1	Jul 5, 2017
Breast cancer, early-onset	5	Dec 5, 2022
Breast cancer, susceptibility to	7	Dec 5, 2022
Breast-ovarian cancer, familial, susceptibility to, 1	10	Dec 5, 2022
Breast-ovarian cancer, familial, susceptibility to, 2	5	Jul 5, 2017
Breast-ovarian cancer, familial, susceptibility to, 3	1	Jul 5, 2017
Brown-Vialetto-van Laere syndrome 2	1	Sep 15, 2015
Brugada syndrome 9	1	Jul 5, 2017
CHARGE association	46	Dec 5, 2022
CHIME syndrome	19	Sep 11, 2014
Centronuclear myopathy	13	Sep 11, 2014
Cerebellar ataxia	1	Sep 15, 2015
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	2	Sep 15, 2015
Cerebral folate transport deficiency	1	Jul 5, 2017
Ceroid lipofuscinosis, neuronal, 6A	1	Sep 15, 2015
Charcot-Marie-Tooth disease type 4K	1	Jul 5, 2017
Charlevoix-Saguenay spastic ataxia	3	Sep 15, 2015
Child syndrome	7	Sep 15, 2015
Cholestanol storage disease	1	Jul 5, 2017
Chondrodysplasia punctata 2 X-linked dominant	32	Sep 15, 2015
Christianson syndrome	6	Jul 5, 2017
Chromosome 1p32-p31 deletion syndrome	1	Jul 5, 2017
Chromosome 2q32-q33 deletion syndrome	1	Jul 5, 2017
Chédiak-Higashi syndrome	1	Jul 5, 2017
Citrullinemia type I	2	Jul 5, 2017
Coats plus syndrome	2	Mar 6, 2020
Cobalamin C disease	1	Jul 5, 2017
Cockayne syndrome type 2	6	Jul 5, 2017
Coffin Siris/Intellectual Disability	6	Feb 24, 2014
Coffin-Siris syndrome 1	17	Jul 5, 2017
Cohen syndrome	6	Jul 5, 2017
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas	1	Jul 5, 2017
Colorectal cancer, hereditary nonpolyposis, type 2	1	Sep 15, 2015
Combined oxidative phosphorylation defect type 15	1	Jul 5, 2017
Complex cortical dysplasia with other brain malformations 1	8	Jul 5, 2017
Complex cortical dysplasia with other brain malformations 3	1	Jul 5, 2017
Complex cortical dysplasia with other brain malformations 5	2	Jul 5, 2017
Complex cortical dysplasia with other brain malformations 7	10	Jul 5, 2017
Congenital amegakaryocytic thrombocytopenia	4	Jul 5, 2017
Congenital generalized lipodystrophy type 1	2	Sep 15, 2015
Congenital generalized lipodystrophy type 2	3	Jul 5, 2017
Congenital malabsorptive diarrhea 4	1	Jul 5, 2017
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	3	Jul 5, 2017
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	2	Jul 5, 2017
Congenital muscular dystrophy due to integrin alpha-7 deficiency	1	Apr 30, 2014
Congenital muscular dystrophy due to partial LAMA2 deficiency	1	Jul 5, 2017
Congenital muscular hypertrophy-cerebral syndrome	27	Sep 15, 2015
Congenital myasthenic syndrome	1	Jul 5, 2017
Congenital myasthenic syndrome 10	4	Jul 5, 2017
Congenital myasthenic syndrome 4C	2	Sep 15, 2015
Congenital myopathy 23	1	Jul 5, 2017
Congenital myopathy with fiber type disproportion	2	Jul 5, 2017
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	1	Jul 5, 2017
Corneal dystrophy	1	Jul 5, 2017
Cornelia de Lange syndrome 1	262	Dec 5, 2022
Cornelia de Lange syndrome 3	23	Oct 4, 2017
Cornelia de Lange syndrome 4	6	Jul 5, 2017
Cornelia de Lange syndrome 5	8	Sep 15, 2015
Cowden syndrome 1	2	Jul 5, 2017
Craniofrontonasal syndrome	4	Jul 5, 2017
Craniosynostosis syndrome	3	Sep 15, 2015
Creatine transporter deficiency	1	Jul 5, 2017
Crigler-Najjar syndrome	4	Jul 5, 2017
Currarino triad	1	Jul 5, 2017
Cystic fibrosis	1	Jul 5, 2017
Cystic leukoencephalopathy without megalencephaly	1	Jul 5, 2017
D-2-hydroxyglutaric aciduria	2	Sep 15, 2015
D-2-hydroxyglutaric aciduria 1	3	Dec 5, 2022
D-2-hydroxyglutaric aciduria 2	1	Dec 5, 2022
DDX41-related hematologic malignancy predisposition syndrome	5	Dec 5, 2022
DYRK1A-related intellectual disability syndrome	7	Jul 5, 2017
Deficiency of ferroxidase	1	Jul 5, 2017
Deficiency of steroid 17-alpha-monooxygenase	2	Jul 5, 2017
Desmin-related myofibrillar myopathy	1	Jul 5, 2017
Desmosterolosis	1	Jul 5, 2017
Developmental and epileptic encephalopathy, 11	4	Oct 4, 2017
Developmental and epileptic encephalopathy, 13	4	Jul 5, 2017
Developmental and epileptic encephalopathy, 17	2	Jul 5, 2017
Developmental and epileptic encephalopathy, 18	1	Jul 5, 2017
Developmental and epileptic encephalopathy, 2	31	Jul 5, 2017
Developmental and epileptic encephalopathy, 27	1	Jul 5, 2017
Developmental and epileptic encephalopathy, 33	1	Sep 15, 2015
Developmental and epileptic encephalopathy, 4	8	Dec 5, 2022
Developmental and epileptic encephalopathy, 5	23	Jul 5, 2017
Developmental and epileptic encephalopathy, 7	3	Oct 4, 2017
Developmental and epileptic encephalopathy, 9	13	Dec 5, 2022
Diabetes mellitus	8	Sep 11, 2014
Diabetes mellitus type 1	2	Dec 5, 2022
Diabetes mellitus, transient neonatal, 2	2	Dec 5, 2022
Diamond-Blackfan anemia 1	1	Dec 5, 2022
Diamond-Blackfan anemia 10	1	Sep 15, 2015
Dilated cardiomyopathy 1A	6	Jul 5, 2017
Distal arthrogryposis type 2B1	3	Jul 5, 2017
Distal arthrogryposis type 5D	6	Jul 5, 2017
Donnai-Barrow syndrome	1	Sep 15, 2015
Duchenne muscular dystrophy	1	Sep 15, 2015
Dyskeratosis congenita	6	Dec 5, 2022
Dyskeratosis congenita, X-linked	1	Jul 5, 2017
Dyskeratosis congenita, autosomal dominant 1	2	Jul 5, 2017
Dyskeratosis congenita, autosomal dominant 2	1	Oct 4, 2017
Dyskeratosis congenita, autosomal dominant 3	1	Sep 15, 2015
Dyskeratosis congenita, autosomal recessive 6	2	Jul 5, 2017
EAST syndrome	1	Sep 15, 2015
Early myoclonic encephalopathy	8	Jul 5, 2017
Ectopic tissue	90	Sep 11, 2014
Ehlers-Danlos syndrome, musculocontractural type	1	Jul 5, 2017
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	1	Dec 5, 2022
Encephalopathy due to GLUT1 deficiency	13	Sep 15, 2015
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome	3	Sep 11, 2014
Epidermolysis bullosa simplex 1C, localized	1	Jul 5, 2017
Epilepsy	1	Jul 5, 2017
Epilepsy, childhood absence, susceptibility to, 5	1	Jul 5, 2017
Episodic ataxia type 2	4	Jul 5, 2017
Ethylmalonic encephalopathy	2	Jul 5, 2017
Familial hypocalciuric hypercalcemia 3	1	Jul 5, 2017
Familial infantile myasthenia	2	Jul 5, 2017
Familial infantile myoclonic epilepsy	2	Jul 5, 2017
Familial meningioma	2	Sep 15, 2015
Familial partial lipodystrophy, Dunnigan type	9	Dec 5, 2022
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	1	Jul 5, 2017
Fanconi anemia complementation group A	9	Oct 4, 2017
Fanconi anemia complementation group D2	1	Jul 5, 2017
Fanconi anemia complementation group I	1	Jul 5, 2017
Fanconi anemia complementation group L	1	Jul 5, 2017
Fanconi anemia complementation group N	1	Sep 15, 2015
Febrile seizures, familial, 4	8	Sep 11, 2014
Floating-Harbor syndrome	2	Sep 11, 2014
Fluorouracil response	2	Jul 5, 2017
Fraser syndrome 1	2	Jul 5, 2017
Freeman-Sheldon syndrome	1	Dec 5, 2022
GLUT1 deficiency syndrome	2	Jul 5, 2017
Galactosylceramide beta-galactosidase deficiency	1	Sep 15, 2015
Gaucher disease type I	1	Sep 15, 2015
Generalized epilepsy with febrile seizures plus, type 1	2	Jul 5, 2017
Generalized epilepsy with febrile seizures plus, type 2	2	Apr 30, 2014
Gestational diabetes	5	Dec 5, 2022
Gilbert syndrome	1	Oct 4, 2017
Glucocorticoid deficiency with achalasia	1	Jul 5, 2017
Glycogen storage disease, type II	2	Dec 5, 2022
Glycogen storage disease, type IV	1	Jul 5, 2017
Goldberg-Shprintzen syndrome	2	Sep 11, 2014
Gray platelet syndrome	2	Jul 5, 2017
Greig cephalopolysyndactyly syndrome	1	Jul 5, 2017
Griscelli syndrome type 2	2	Jul 5, 2017
H syndrome	4	Sep 15, 2015
Hb SS disease	1	Dec 5, 2022
Hearing impairment	25	Sep 11, 2014
Hemochromatosis type 1	2	Apr 26, 2018
Hereditary spastic paraplegia 18	1	Jul 5, 2017
Hereditary spastic paraplegia 47	5	Jul 5, 2017
Hereditary spastic paraplegia 50	1	Sep 15, 2015
Hereditary spastic paraplegia 7	8	Dec 5, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	1	Jul 5, 2017
Hermansky-Pudlak syndrome 1	2	Jul 5, 2017
Hermansky-Pudlak syndrome 5	1	Jul 5, 2017
Hermansky-Pudlak syndrome 6	2	Jul 5, 2017
Hermansky-Pudlak syndrome 7	1	Jul 5, 2017
Holoprosencephaly 5	1	Jul 5, 2017
Hutchinson-Gilford syndrome	2	Jul 5, 2017
Hydranencephaly with abnormal genitalia	1	Jul 5, 2017
Hydrocephalus due to aqueductal stenosis	6	Dec 5, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 2	1	Sep 15, 2015
Hyperbilirubinemia	16	Sep 15, 2015
Hyperimmunoglobulin D with periodic fever	1	Jul 5, 2017
Hyperinsulinemia	2	Dec 5, 2022
Hyperinsulinemic hypoglycemia, familial, 1	28	Dec 5, 2022
Hyperinsulinemic hypoglycemia, familial, 2	8	Jul 5, 2017
Hyperinsulinism due to HNF4A deficiency	2	Jul 5, 2017
Hyperinsulinism due to INSR deficiency	1	Sep 15, 2015
Hyperinsulinism due to glucokinase deficiency	2	Jul 5, 2017
Hyperinsulinism-hyperammonemia syndrome	4	Dec 5, 2022
Hypobetalipoproteinemia	4	Jul 5, 2017
Hypogonadotropic hypogonadism 1 with or without anosmia	1	Jul 5, 2017
Hypogonadotropic hypogonadism 2 with or without anosmia	2	Jul 5, 2017
Hypogonadotropic hypogonadism 4 with or without anosmia	1	Jul 5, 2017
Hypogonadotropic hypogonadism 6 with or without anosmia	1	Jul 5, 2017
Hypomyelinating leukodystrophy 10	1	Jul 5, 2017
Hypomyelinating leukodystrophy 2	1	Jul 5, 2017
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	2	Sep 15, 2015
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	1	Apr 30, 2014
Hypothyroidism due to TSH receptor mutations	2	Jul 5, 2017
Hypothyroidism, congenital, nongoitrous, 2	1	Jul 5, 2017
Immunodeficiency, common variable, 2	1	Jul 5, 2017
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	1	Apr 30, 2014
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	3	Jul 5, 2017
Intellectual disability, X-linked 1	2	Jul 5, 2017
Intellectual disability, X-linked 19	1	Sep 15, 2015
Intellectual disability, X-linked 72	1	Jul 5, 2017
Intellectual disability, autosomal dominant 13	3	Jul 5, 2017
Intellectual disability, autosomal dominant 14	5	Jul 5, 2017
Intellectual disability, autosomal dominant 15	1	Sep 15, 2015
Intellectual disability, autosomal dominant 16	3	Oct 4, 2017
Intellectual disability, autosomal dominant 20	5	Sep 15, 2015
Intellectual disability, autosomal dominant 5	9	Jul 5, 2017
Intellectual disability, autosomal dominant 8	1	Jul 5, 2017
Intellectual disability, autosomal dominant 9	4	Oct 4, 2017
Intellectual disability, autosomal recessive 13	3	Jul 5, 2017
Intellectual disability, autosomal recessive 27	1	Jul 5, 2017
Intellectual disability, autosomal recessive 42	2	Jul 5, 2017
Intellectual disability, autosomal recessive 44	1	Jul 5, 2017
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	1	Jul 5, 2017
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	1	Jul 5, 2017
Intellectual disability-severe speech delay-mild dysmorphism syndrome	3	Oct 4, 2017
Iodotyrosyl coupling defect	1	Jul 5, 2017
Iron accumulation in brain	53	Sep 11, 2014
Jalili syndrome	1	Jul 5, 2017
Joubert syndrome 13	2	Sep 15, 2015
Joubert syndrome 17	9	Jul 5, 2017
Joubert syndrome 21	3	Jul 5, 2017
Joubert syndrome 23	1	Jul 5, 2017
Joubert syndrome 25	1	Jul 5, 2017
Joubert syndrome 3	2	Sep 15, 2015
Joubert syndrome 6	2	Sep 15, 2015
Joubert syndrome 7	1	Sep 15, 2015
Joubert syndrome 9	3	Jul 5, 2017
KBG syndrome	2	Jul 5, 2017
Kabuki syndrome 1	83	May 9, 2021
Kabuki syndrome 2	4	Sep 15, 2015
Kleefstra syndrome 1	1	Jul 5, 2017
Knobloch syndrome	1	Sep 15, 2015
L-2-hydroxyglutaric aciduria	5	Jul 5, 2017
LIPE-related familial partial lipodystrophy	1	Jul 5, 2017
Leigh syndrome due to mitochondrial complex IV deficiency	1	Jul 5, 2017
Leprechaunism syndrome	1	Sep 15, 2015
Leukemia, acute myeloid, susceptibility to	5	Jul 5, 2017
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	3	Jul 5, 2017
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	1	Jul 5, 2017
Li-Fraumeni syndrome	4	Jul 5, 2017
Li-Fraumeni syndrome 1	1	Apr 26, 2018
Lipodystrophy	1	Sep 11, 2014
Lissencephaly 4	7	Jul 5, 2017
Lissencephaly due to LIS1 mutation	95	Dec 5, 2022
Lissencephaly due to TUBA1A mutation	28	Oct 4, 2017
Lissencephaly type 1 due to doublecortin gene mutation	2	Jul 5, 2017
Long QT syndrome 1	1	Sep 15, 2015
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	1	Jul 5, 2017
Lynch syndrome 4	1	Jul 5, 2017
Lynch syndrome 5	2	Jul 5, 2017
METHYLMALONIC ACIDURIA, mut(0) TYPE	2	Jul 5, 2017
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	1	Jul 5, 2017
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	1	Sep 15, 2015
Macrocephaly-autism syndrome	1	Sep 15, 2015
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	1	Jul 5, 2017
Malformation of the heart and great vessels	2	Sep 11, 2014
Mandibulofacial dysostosis-microcephaly syndrome	4	Jul 5, 2017
Maple syrup urine disease type 1A	1	Jul 5, 2017
Maple syrup urine disease type 1B	1	Sep 15, 2015
Maple syrup urine disease type 2	1	Sep 15, 2015
Marshall-Smith syndrome	3	Jul 5, 2017
Maturity-onset diabetes of the young type 1	2	Jul 5, 2017
Maturity-onset diabetes of the young type 2	16	Dec 5, 2022
Maturity-onset diabetes of the young type 3	5	Jul 5, 2017
Maturity-onset diabetes of the young type 4	3	Jul 5, 2017
Meckel syndrome, type 1	2	Jul 5, 2017
Meckel syndrome, type 11	2	Jul 5, 2017
Meckel syndrome, type 4	3	Jul 5, 2017
Meckel syndrome, type 6	2	Jul 5, 2017
Meckel syndrome, type 8	2	Sep 15, 2015
Meckel syndrome, type 9	1	Jul 5, 2017
Meckel-Gruber syndrome	12	Dec 5, 2022
Meier-Gorlin syndrome 2	3	Sep 15, 2015
Meier-Gorlin syndrome 3	3	Jul 5, 2017
Meier-Gorlin syndrome 4	1	Apr 30, 2014
Menkes kinky-hair syndrome	85	Sep 15, 2015
Metachromatic leukodystrophy	3	Jul 5, 2017
Microcephalic osteodysplastic primordial dwarfism type II	66	Jul 5, 2017
Microcephalic primordial dwarfism due to ZNF335 deficiency	1	Sep 15, 2015
Microcephalic primordial dwarfism, Alazami type	1	Sep 15, 2015
Microcephaly 1, primary, autosomal recessive	33	Mar 6, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	38	Jul 5, 2017
Microcephaly 3, primary, autosomal recessive	31	Dec 5, 2022
Microcephaly 4, primary, autosomal recessive	2	Jul 5, 2017
Microcephaly 5, primary, autosomal recessive	132	Jul 5, 2017
Microcephaly 6, primary, autosomal recessive	19	Sep 11, 2014
Microcephaly 7, primary, autosomal recessive	14	Sep 11, 2014
Microcephaly 9, primary, autosomal recessive	41	Jul 5, 2017
Microcephaly and chorioretinopathy 3	2	Dec 5, 2022
Microcephaly and chorioretinopathy with or without intellectual disability	2	Sep 15, 2015
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	8	Oct 4, 2017
Microcephaly, normal intelligence and immunodeficiency	3	Jul 5, 2017
Microcephaly, seizures, and developmental delay	24	Jul 5, 2017
Microcephaly-capillary malformation syndrome	7	Jul 5, 2017
Mitochondrial DNA depletion syndrome 1	1	Jul 5, 2017
Mitochondrial DNA depletion syndrome 9	1	Sep 15, 2015
Mitochondrial complex I deficiency	1	Jul 5, 2017
Mitochondrial complex III deficiency nuclear type 2	1	Jul 5, 2017
Mosaic variegated aneuploidy syndrome 1	1	Jul 5, 2017
Mowat-Wilson syndrome	24	Sep 7, 2018
Multiple endocrine neoplasia, type 1	1	Jul 5, 2017
Muscular dystrophy	20	Jul 5, 2017
Muscular dystrophy-dystroglycanopathy	6	Jul 5, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	1	Sep 15, 2015
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	1	Jul 5, 2017
Myoclonic dystonia 11	1	Jul 5, 2017
Myoclonic epilepsy, juvenile, susceptibility to, 1	1	Sep 15, 2015
Myopathy	16	Sep 15, 2015
Myopathy, centronuclear, 2	5	Sep 11, 2014
Nager syndrome	4	Sep 15, 2015
Nemaline myopathy 2	8	Jul 5, 2017
Nemaline myopathy 3, autosomal dominant or recessive	3	Jul 5, 2017
Neonatal insulin-dependent diabetes mellitus	6	Sep 11, 2014
Neonatal-onset encephalopathy with rigidity and seizures	2	Jul 5, 2017
Nephronophthisis 1	2	Jul 5, 2017
Neurodegeneration with brain iron accumulation 2B	4	Jul 5, 2017
Neurodegeneration with brain iron accumulation 4	5	Jul 5, 2017
Neurodegeneration with brain iron accumulation 5	5	Sep 15, 2015
Neuroferritinopathy	1	Sep 11, 2014
Neurofibromatosis, type 1	1	Jul 5, 2017
Neuronal ceroid lipofuscinosis	1	Jul 5, 2017
Neuronal ceroid lipofuscinosis 1	1	Jul 5, 2017
Neuronal ceroid lipofuscinosis 13	2	Jul 5, 2017
Neuronal ceroid lipofuscinosis 2	2	Jul 5, 2017
Neuronal ceroid lipofuscinosis 5	3	Jul 5, 2017
Neuronal ceroid lipofuscinosis 8	1	Sep 15, 2015
Neutral 1 amino acid transport defect	1	Jul 5, 2017
Nicolaides-Baraitser syndrome	5	Mar 6, 2020
Niemann-Pick disease, type A	1	Sep 15, 2015
Niemann-Pick disease, type C1	5	Jul 5, 2017
Nijmegen breakage syndrome-like disorder	1	Jul 5, 2017
Noonan syndrome	1	Jul 5, 2017
Noonan syndrome-like disorder with loose anagen hair 1	1	Sep 15, 2015
Norman-Roberts syndrome	5	Sep 15, 2015
Obesity due to pro-opiomelanocortin deficiency	1	Jul 5, 2017
Obesity, autosomal dominant	4	Jul 5, 2017
Oculocutaneous albinism type 3	2	Jul 5, 2017
Oculocutaneous albinism type 4	4	Jul 5, 2017
Oculocutaneous albinism type 6	1	Jul 5, 2017
Oculodentodigital dysplasia	4	Jul 5, 2017
Olivopontocerebellar hypoplasia	9	Sep 11, 2014
Orofaciodigital syndrome I	2	Sep 11, 2014
PMM2-congenital disorder of glycosylation	1	Dec 5, 2022
PPARG-related familial partial lipodystrophy	7	Jul 5, 2017
Pancreatic agenesis 1	3	Jul 5, 2017
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	Sep 15, 2015
Paragangliomas 4	1	Jul 5, 2017
Peripheral neuropathy	1	Sep 11, 2014
Periventricular heterotopia with microcephaly, autosomal recessive	1	Jul 5, 2017
Permanent neonatal diabetes mellitus	7	Jul 5, 2017
Peroxisome biogenesis disorder	1	Jul 5, 2017
Persistent truncus arteriosus	1	Apr 30, 2014
Pettigrew syndrome	3	Jul 5, 2017
Pfeiffer syndrome	1	Jul 5, 2017
Phelan-McDermid syndrome	1	Jul 5, 2017
Phenylketonuria	1	Jul 5, 2017
Pheochromocytoma	1	Sep 15, 2015
Pitt-Hopkins syndrome	23	Jul 5, 2017
Pituitary hypothyroidism	1	Dec 5, 2022
Polymicrogyria with optic nerve hypoplasia	1	Sep 11, 2014
Pontocerebellar hypoplasia type 1B	4	Jul 5, 2017
Pontocerebellar hypoplasia type 2A	3	Sep 15, 2015
Pontocerebellar hypoplasia type 2B	8	Sep 15, 2015
Pontocerebellar hypoplasia type 2C	1	Sep 11, 2014
Pontocerebellar hypoplasia type 6	2	Jul 5, 2017
Pontocerebellar hypoplasia type 8	1	Sep 15, 2015
Progressive myoclonic epilepsy type 6	1	Sep 15, 2015
Pseudo-TORCH syndrome 1	6	Jul 5, 2017
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	2	Jul 5, 2017
Pulmonary hypertension, primary, 3	1	Apr 30, 2014
Pyruvate carboxylase deficiency	1	Jul 5, 2017
Pyruvate dehydrogenase E2 deficiency	1	Jul 5, 2017
Rafiq syndrome	1	Sep 15, 2015
Rett syndrome	50	Oct 4, 2017
Rett syndrome, congenital variant	21	Mar 6, 2020
Rhabdoid tumor predisposition syndrome 2	3	Sep 15, 2015
Rhizomelic chondrodysplasia punctata type 1	6	Jul 5, 2017
Roberts-SC phocomelia syndrome	8	Sep 15, 2015
Rothmund-Thomson syndrome	1	Jul 5, 2017
Rubinstein-Taybi syndrome due to CREBBP mutations	81	Oct 4, 2017
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	8	Sep 15, 2015
SHORT syndrome	2	Dec 5, 2022
Sandhoff disease	2	Jul 5, 2017
Schinzel-Giedion syndrome	13	Sep 15, 2015
Schizophrenia	1	Sep 15, 2015
Schuurs-Hoeijmakers syndrome	1	Jul 5, 2017
Seckel syndrome 1	15	Jul 5, 2017
Seckel syndrome 2	1	Apr 30, 2014
Seckel syndrome 4	9	Sep 15, 2015
Seckel syndrome 6	1	Sep 15, 2015
Seckel syndrome 7	1	Sep 15, 2015
Seizure	11	Jul 5, 2017
Seizures, benign familial infantile, 3	3	Apr 30, 2014
Senior-Loken syndrome 7	3	Sep 15, 2015
Severe X-linked myotubular myopathy	138	Jul 5, 2017
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	1	Sep 15, 2015
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	3	Jul 5, 2017
Severe intellectual disability-progressive spastic diplegia syndrome	1	Jul 5, 2017
Short-rib thoracic dysplasia 8 with or without polydactyly	1	Jul 5, 2017
Shprintzen-Goldberg syndrome	1	Jul 5, 2017
Shwachman-Diamond syndrome 1	2	Dec 5, 2022
Sialidosis	1	Jul 5, 2017
Simpson-Golabi-Behmel syndrome type 1	1	Sep 15, 2015
Smith-Lemli-Opitz syndrome	1	Mar 6, 2020
Sotos syndrome	198	Jul 5, 2017
Spinal muscular atrophy, lower extremity-predominant, 2, AD	1	Sep 15, 2015
Spinocerebellar ataxia type 13	1	Jul 5, 2017
Spinocerebellar ataxia type 14	2	Jul 5, 2017
Spinocerebellar ataxia type 19/22	1	Sep 15, 2015
Spinocerebellar ataxia type 21	1	Jul 5, 2017
Spinocerebellar ataxia type 34	1	Jul 5, 2017
Spinocerebellar ataxia type 42	1	Jul 5, 2017
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2	Sep 15, 2015
Subcortical laminar heterotopia, X-linked	2	Jul 5, 2017
Succinate-semialdehyde dehydrogenase deficiency	1	Jul 5, 2017
Syndromic X-linked intellectual disability Claes-Jensen type	2	Sep 15, 2015
Syndromic X-linked intellectual disability Najm type	22	Jul 5, 2017
Syndromic X-linked intellectual disability Nascimento type	1	Jul 5, 2017
TARP syndrome	1	Jul 5, 2017
TCF12-related craniosynostosis	1	Jul 5, 2017
Tay-Sachs disease	1	Sep 15, 2015
Telangiectasia, hereditary hemorrhagic, type 1	1	Jul 5, 2017
Testosterone 17-beta-dehydrogenase deficiency	2	Jul 5, 2017
Thrombocytopenia 2	1	Jul 5, 2017
Thrombocytopenia 5	1	Jul 5, 2017
Thyroid hormone resistance syndrome	2	Jul 5, 2017
Tibial muscular dystrophy	4	Apr 30, 2014
Treacher Collins syndrome 1	3	Jul 5, 2017
Type 1 diabetes mellitus 2	1	Apr 30, 2014
Tyrosinase-negative oculocutaneous albinism	37	Jul 5, 2017
Tyrosinase-positive oculocutaneous albinism	20	Mar 6, 2020
Unverricht-Lundborg syndrome	1	Sep 15, 2015
Upshaw-Schulman syndrome	1	Jul 5, 2017
Usher syndrome type 3	1	Sep 15, 2015
Very long chain acyl-CoA dehydrogenase deficiency	1	Jul 5, 2017
Vici syndrome	1	Sep 15, 2015
Von Hippel-Lindau syndrome	1	Jul 5, 2017
Warburg micro syndrome 1	2	Jul 5, 2017
Warburg micro syndrome 2	1	Jul 5, 2017
Weaver syndrome	5	Sep 15, 2015
Wiedemann-Steiner syndrome	10	Jul 5, 2017
Wilson disease	25	Dec 5, 2022
Wolcott-Rallison dysplasia	2	Jul 5, 2017
Wolfram syndrome	7	Jul 5, 2017
Woodhouse-Sakati syndrome	1	Sep 15, 2015
X-linked chondrodysplasia punctata 1	2	Sep 11, 2014
X-linked intellectual disability, Cantagrel type	2	Jul 5, 2017
X-linked intellectual disability-cerebellar hypoplasia syndrome	3	Sep 11, 2014
X-linked lissencephaly with abnormal genitalia	22	Jul 5, 2017
Xeroderma pigmentosum, type F/Cockayne syndrome	1	Jul 5, 2017
beta Thalassemia	1	Jul 5, 2017
epileptic encephalopathy, early infanitle, 1	10	Sep 11, 2014
not provided	1434	Mar 9, 2023
not specified	19713	Mar 9, 2023

Testing in GTR

Enter text to narrow down the list

Disease name	Number of tests
3 beta-Hydroxysteroid dehydrogenase deficiency	1 test
3-M syndrome	1 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	1 test
3-methylglutaconic aciduria type 1	2 tests
3-methylglutaconic aciduria, type VIIB	1 test
46,XX sex reversal 1	1 test
46,XX sex reversal 4	1 test
46,XY disorder of sex development	2 tests
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis	1 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	1 test
46,XY sex reversal 1	2 tests
46,XY sex reversal 2	1 test
46,XY sex reversal 6	2 tests
46,XY sex reversal 7	2 tests
46,XY sex reversal 9	2 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	2 tests
ADan amyloidosis	1 test
Abdominal obesity-metabolic syndrome 3	2 tests
Acampomelic campomelic dysplasia with autosomal sex reversal	1 test
Acquired hemoglobin H disease	1 test
Acquired partial lipodystrophy	3 tests
Acrocallosal syndrome	1 test
Acrodysostosis 1 with or without hormone resistance	2 tests
Acrodysostosis 2 with or without hormone resistance	2 tests
Acromelic frontonasal dysostosis	1 test
Actin accumulation myopathy	3 tests
Action myoclonus-renal failure syndrome	1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	1 test
Acute myeloid leukemia	5 tests
Adenylosuccinate lyase deficiency	2 tests
Adrenal hypoplasia, congenital, with precocious puberty	1 test
Adrenoleukodystrophy	2 tests
Agenesis of the corpus callosum with peripheral neuropathy	1 test
Aicardi Goutieres syndrome	1 test
Aicardi-Goutieres syndrome 7	1 test
Alagille syndrome due to a JAG1 point mutation	1 test
Alagille syndrome due to a NOTCH2 point mutation	1 test
Albinism	1 test
Albright hereditary osteodystrophy	1 test
Aldosterone-producing adenoma with seizures and neurological abnormalities	1 test
Alexander disease	1 test
Allan-Herndon-Dudley syndrome	4 tests
Alpha mannosidosis type II	1 test
Alpha thalassemia-X-linked intellectual disability syndrome	4 tests
Alpha-methylacyl-CoA racemase deficiency	1 test
Alpha-thalassemia/intellectual disability syndrome	1 test
Alstrom syndrome	1 test
Alternating hemiplegia of childhood	2 tests
Alzheimer disease 3	1 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia	1 test
Amelocerebrohypohidrotic syndrome	1 test
Aminoacylase 1 deficiency	1 test
Amish lethal microcephaly	1 test
Amyotrophic lateral sclerosis type 1	1 test
Androgen resistance syndrome	2 tests
Angelman syndrome	7 tests
Aniridia 1	2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	1 test
Aplastic anemia	1 test
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus	1 test
Argininosuccinate lyase deficiency	1 test
Aromatase deficiency	2 tests
Aromatase excess syndrome	1 test
Arthrogryposis, distal, type 1A	1 test
Arthrogryposis, distal, type 1B	1 test
Arthrogryposis, distal, with impaired proprioception and touch	1 test
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome	1 test
Asphyxiating thoracic dystrophy 3	2 tests
Asphyxiating thoracic dystrophy 5	1 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	1 test
Ataxia - oculomotor apraxia type 4	2 tests
Ataxia with oculomotor apraxia type 3	1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	1 test
Ataxia-pancytopenia syndrome	5 tests
Ataxia-telangiectasia syndrome	2 tests
Ataxia-telangiectasia-like disorder	1 test
Atypical hemolytic-uremic syndrome	1 test
Autoimmune disease	1 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	1 test
Autoimmune lymphoproliferative syndrome type 2A	1 test
Autoimmune lymphoproliferative syndrome, type 1a	1 test
Autoimmune lymphoproliferative syndrome, type 1b	1 test
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia	1 test
Autosomal dominant Kenny-Caffey syndrome	1 test
Autosomal dominant Opitz G/BBB syndrome	1 test
Autosomal dominant aplasia and myelodysplasia	1 test
Autosomal dominant centronuclear myopathy	3 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy	1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G	2 tests
Autosomal dominant nonsyndromic hearing loss 1	1 test
Autosomal dominant polycystic kidney disease	2 tests
Autosomal dominant polycystic liver disease	1 test
Autosomal recessive DOPA responsive dystonia	2 tests
Autosomal recessive Dejerine-Sottas syndrome	1 test
Autosomal recessive Kenny-Caffey syndrome	1 test
Autosomal recessive Robinow syndrome	3 tests
Autosomal recessive ataxia due to ubiquinone deficiency	1 test
Autosomal recessive ataxia, Beauce type	1 test
Autosomal recessive infantile hypercalcemia	1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J	3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T	2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U	2 tests
Autosomal recessive limb-girdle muscular dystrophy type R18	2 tests
Autosomal recessive nonsyndromic hearing loss 66	1 test
Autosomal recessive polycystic kidney disease	2 tests
Autosomal recessive primary microcephaly	1 test
Autosomal recessive spastic paraplegia type 76	1 test
Autosomal recessive spastic paraplegia type 78	1 test
Autosomal recessive spinocerebellar ataxia 10	1 test
Autosomal recessive spinocerebellar ataxia 11	1 test
Autosomal recessive spinocerebellar ataxia 12	1 test
Autosomal recessive spinocerebellar ataxia 13	1 test
Autosomal recessive spinocerebellar ataxia 15	1 test
Autosomal recessive spinocerebellar ataxia 16	1 test
Autosomal recessive spinocerebellar ataxia 17	1 test
Autosomal recessive spinocerebellar ataxia 18	1 test
Autosomal recessive spinocerebellar ataxia 2	1 test
Autosomal recessive spinocerebellar ataxia 20	1 test
Azorean disease	1 test
Bailey-Bloch congenital myopathy	2 tests
Baller-Gerold syndrome	1 test
Bamforth-Lazarus syndrome	1 test
Band heterotopia of brain	1 test
Baraitser-winter syndrome 2	1 test
Bardet-Biedl syndrome	4 tests
Bardet-Biedl syndrome 11	2 tests
Bardet-Biedl syndrome 13	1 test
Bardet-Biedl syndrome 6	1 test
Bartsocas-Papas syndrome 1	1 test
Basal ganglia calcification, idiopathic, 6	1 test
Beckwith-Wiedemann syndrome	2 tests
Benign hereditary chorea	1 test
Bernard Soulier syndrome	1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency	1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome	2 tests
Bethlem myopathy 1A	2 tests
Bethlem myopathy 2	2 tests
Bilateral frontoparietal polymicrogyria	2 tests
Biotin-responsive basal ganglia disease	2 tests
Biotinidase deficiency	1 test
Bloom syndrome	2 tests
Bone marrow failure syndrome 3	2 tests
Bone marrow failure syndrome 5	1 test
Borjeson-Forssman-Lehmann syndrome	2 tests
Brain small vessel disease 1 with or without ocular anomalies	1 test
Brain-lung-thyroid syndrome	1 test
Branchiootorenal Spectrum Disorders	1 test
Breast and/or ovarian cancer	3 tests
Breast cancer, susceptibility to	3 tests
Breast neoplasm	5 tests
Breast-ovarian cancer, familial, susceptibility to, 2	1 test
Breast-ovarian cancer, familial, susceptibility to, 4	1 test
C syndrome	1 test
C3 deficiency	1 test
CADDS	1 test
CARASIL syndrome	1 test
CEDNIK syndrome	1 test
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED	1 test
CHARGE association	4 tests
CHIME syndrome	1 test
Campomelic dysplasia with autosomal sex reversal	1 test
Carcinoma of colon	1 test
Carcinoma of pancreas	1 test
Cardiac valvular dysplasia, X-linked	1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	1 test
Carney complex	1 test
Carney-Stratakis syndrome	1 test
Carpenter syndrome	1 test
Cayman type cerebellar ataxia	1 test
Central core myopathy	3 tests
Central hypothyroidism	1 test
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	1 test
Cerebellar ataxia and hypergonadotropic hypogonadism	1 test
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	2 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	1 test
Cerebellar ataxia-hypogonadism syndrome	1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities	1 test
Cerebral creatine deficiency syndrome	2 tests
Cerebral folate transport deficiency	2 tests
Cernunnos-XLF deficiency	1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	1 test
Ceroid lipofuscinosis, neuronal, 6A	1 test
Charcot-Marie-Tooth disease	1 test
Charcot-Marie-Tooth disease type 2B1	1 test
Charlevoix-Saguenay spastic ataxia	2 tests
Child syndrome	1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	2 tests
Childhood onset GLUT1 deficiency syndrome 2	2 tests
Cholestanol storage disease	2 tests
Chorea-acanthocytosis	1 test
Christianson syndrome	3 tests
Chronic mucocutaneous candidiasis	1 test
Chédiak-Higashi syndrome	1 test
Citrullinemia type I	1 test
Classic Hodgkin lymphoma	1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	1 test
Cleidocranial dysostosis	1 test
Coats plus syndrome	2 tests
Cobblestone lissencephaly without muscular or ocular involvement	1 test
Cockayne syndrome	1 test
Coenzyme Q10 deficiency	1 test
Coenzyme Q10 deficiency, primary, 1	1 test
Coffin-Siris syndrome	1 test
Coffin-Siris syndrome 1	2 tests
Coffin-Siris syndrome 5	1 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	2 tests
Cognitive impairment with or without cerebellar ataxia	1 test
Cohen syndrome	1 test
Cohen-Gibson syndrome	1 test
Cole-Carpenter syndrome 2	1 test
Collagen IV-related nephropathies	1 test
Colorectal cancer	4 tests
Colorectal cancer, hereditary nonpolyposis, type 6	1 test
Colorectal cancer, susceptibility to, 12	1 test
Combined immunodeficiency	1 test
Combined immunodeficiency due to LRBA deficiency	2 tests
Combined oxidative phosphorylation defect type 14	1 test
Combined oxidative phosphorylation deficiency	1 test
Combined pituitary hormone deficiencies, genetic form	1 test
Common variable immunodeficiency	1 test
Complete trisomy 21 syndrome	2 tests
Complex cortical dysplasia with other brain malformations	1 test
Complex cortical dysplasia with other brain malformations 1	1 test
Complex cortical dysplasia with other brain malformations 2	1 test
Complex cortical dysplasia with other brain malformations 4	1 test
Complex cortical dysplasia with other brain malformations 6	2 tests
Compton-North congenital myopathy	3 tests
Congenital adrenal hyperplasia	2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	1 test
Congenital adrenal hypoplasia, X-linked	1 test
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	2 tests
Congenital amegakaryocytic thrombocytopenia	3 tests
Congenital bile acid synthesis defect 3	1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome	1 test
Congenital cerebellar hypoplasia	1 test
Congenital contractural arachnodactyly	1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay	2 tests
Congenital defect of folate absorption	1 test
Congenital disorder of glycosylation	5 tests
Congenital disorder of glycosylation type 1E	2 tests
Congenital dyserythropoietic anemia, type II	1 test
Congenital generalized lipodystrophy type 1	3 tests
Congenital generalized lipodystrophy type 2	4 tests
Congenital generalized lipodystrophy type 3	4 tests
Congenital generalized lipodystrophy type 4	2 tests
Congenital hyperammonemia, type I	1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	1 test
Congenital multicore myopathy with external ophthalmoplegia	3 tests
Congenital muscular dystrophy due to LMNA mutation	2 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency	2 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy	2 tests
Congenital myasthenic syndrome	3 tests
Congenital myasthenic syndrome 10	2 tests
Congenital myasthenic syndrome 12	3 tests
Congenital myasthenic syndrome 13	3 tests
Congenital myasthenic syndrome 14	3 tests
Congenital myasthenic syndrome 15	1 test
Congenital myasthenic syndrome 16	3 tests
Congenital myasthenic syndrome 18	1 test
Congenital myasthenic syndrome 19	2 tests
Congenital myasthenic syndrome 4A	2 tests
Congenital myasthenic syndrome 4C	3 tests
Congenital myasthenic syndrome 5	3 tests
Congenital myasthenic syndrome 7	2 tests
Congenital myasthenic syndrome 8	2 tests
Congenital myopathy	3 tests
Congenital myopathy 23	3 tests
Congenital myopathy 4B, autosomal recessive	1 test
Congenital myopathy with fiber type disproportion	2 tests
Congenital myopathy with internal nuclei and atypical cores	3 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	1 test
Cortical dysplasia-focal epilepsy syndrome	1 test
Cowden syndrome	5 tests
Cranioectodermal dysplasia	1 test
Cranioectodermal dysplasia 4	1 test
Craniofrontonasal syndrome	3 tests
Craniosynostosis 6	2 tests
Craniosynostosis and dental anomalies	1 test
Craniosynostosis syndrome	1 test
Crigler-Najjar syndrome	1 test
Cryptophthalmos syndrome	1 test
Currarino triad	1 test
Curry-Hall syndrome	1 test
Cutis laxa	1 test
Cyclical neutropenia	1 test
Cystic leukoencephalopathy without megalencephaly	1 test
Cytochrome c oxidase I deficiency	1 test
D-2-hydroxyglutaric aciduria	1 test
D-2-hydroxyglutaric aciduria 2	1 test
DDX41-related hematologic malignancy predisposition syndrome	1 test
DICER1-related tumor predisposition	1 test
DNA ligase IV deficiency	3 tests
DOORS syndrome	2 tests
DPM3-congenital disorder of glycosylation	2 tests
DYRK1A-related intellectual disability syndrome	4 tests
Dandy-Walker syndrome	1 test
Danon disease	2 tests
De Lange syndrome	2 tests
Deafness dystonia syndrome	1 test
Deficiency of aromatic-L-amino-acid decarboxylase	1 test
Deficiency of ferroxidase	1 test
Deficiency of steroid 11-beta-monooxygenase	1 test
Deficiency of steroid 17-alpha-monooxygenase	2 tests
Dentatorubral-pallidoluysian atrophy	1 test
Desmin-related myofibrillar myopathy	2 tests
Desmosterolosis	1 test
Developmental and epileptic encephalopathy 94	3 tests
Developmental and epileptic encephalopathy, 1	1 test
Developmental and epileptic encephalopathy, 11	2 tests
Developmental and epileptic encephalopathy, 12	2 tests
Developmental and epileptic encephalopathy, 13	2 tests
Developmental and epileptic encephalopathy, 14	2 tests
Developmental and epileptic encephalopathy, 15	2 tests
Developmental and epileptic encephalopathy, 16	3 tests
Developmental and epileptic encephalopathy, 17	1 test
Developmental and epileptic encephalopathy, 18	2 tests
Developmental and epileptic encephalopathy, 19	2 tests
Developmental and epileptic encephalopathy, 2	3 tests
Developmental and epileptic encephalopathy, 21	2 tests
Developmental and epileptic encephalopathy, 24	2 tests
Developmental and epileptic encephalopathy, 25	2 tests
Developmental and epileptic encephalopathy, 26	2 tests
Developmental and epileptic encephalopathy, 27	2 tests
Developmental and epileptic encephalopathy, 28	3 tests
Developmental and epileptic encephalopathy, 29	1 test
Developmental and epileptic encephalopathy, 31	2 tests
Developmental and epileptic encephalopathy, 32	2 tests
Developmental and epileptic encephalopathy, 4	2 tests
Developmental and epileptic encephalopathy, 44	1 test
Developmental and epileptic encephalopathy, 5	2 tests
Developmental and epileptic encephalopathy, 51	1 test
Developmental and epileptic encephalopathy, 7	2 tests
Developmental and epileptic encephalopathy, 8	2 tests
Developmental and epileptic encephalopathy, 9	3 tests
Developmental delay with autism spectrum disorder and gait instability	2 tests
Developmental delay with short stature, dysmorphic facial features, and sparse hair	1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities	1 test
DiGeorge syndrome	1 test
Diabetes mellitus	2 tests
Diabetes mellitus, transient neonatal, 1	1 test
Diamond-Blackfan anemia	3 tests
Diamond-Blackfan anemia 1	1 test
Diamond-Blackfan anemia 10	1 test
Diamond-Blackfan anemia 11	2 tests
Diamond-Blackfan anemia 12	2 tests
Diamond-Blackfan anemia 3	1 test
Diamond-Blackfan anemia 5	1 test
Diamond-Blackfan anemia 6	1 test
Diamond-Blackfan anemia 7	1 test
Diamond-Blackfan anemia 8	2 tests
Diamond-Blackfan anemia 9	1 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	1 test
Dihydropteridine reductase deficiency	1 test
Dilated cardiomyopathy 1A	2 tests
Dilated cardiomyopathy 1G	1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	1 test
Distal arthrogryposis	1 test
Distal arthrogryposis type 2B1	1 test
Distal arthrogryposis type 5D	1 test
Donnai-Barrow syndrome	1 test
Dopa-responsive dystonia	1 test
Drash syndrome	3 tests
Dyskeratosis congenita	5 tests
Dyskeratosis congenita, autosomal dominant 6	3 tests
Dyskeratosis congenita, autosomal recessive 1	1 test
Dyskeratosis congenita, autosomal recessive 5	2 tests
Dyskinesia with orofacial involvement, autosomal dominant	1 test
Dyssynergia	1 test
Dystonia 16	1 test
Dystonia 24	1 test
Dystonia 25	1 test
Dystonia 28, childhood-onset	1 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	2 tests
Dystonic disorder	3 tests
EAST syndrome	1 test
Early infantile epileptic encephalopathy with suppression bursts	4 tests
Early myoclonic encephalopathy	2 tests
Early-onset Lafora body disease	1 test
Early-onset myopathy with fatal cardiomyopathy	1 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	1 test
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	1 test
Ehlers-Danlos syndrome	3 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	2 tests
Ehlers-Danlos syndrome, musculocontractural type	3 tests
Eichsfeld type congenital muscular dystrophy	2 tests
Emery-Dreifuss muscular dystrophy	2 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive	2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant	2 tests
Encephalopathy due to GLUT1 deficiency	3 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	1 test
Encephalopathy, progressive, with amyotrophy and optic atrophy	1 test
Endocrine-cerebro-osteodysplasia syndrome	1 test
Epilepsy	2 tests
Epilepsy, childhood absence, susceptibility to, 5	2 tests
Epilepsy, progressive myoclonic, 2b	1 test
Ethylmalonic encephalopathy	3 tests
Exercise-induced hyperinsulinism	1 test
Exudative vitreoretinopathy 7	1 test
FG syndrome 1	3 tests
FG syndrome 2	1 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	1 test
Familial adenomatous polyposis 1	2 tests
Familial adenomatous polyposis 2	3 tests
Familial aplasia of the vermis	5 tests
Familial cancer of breast	5 tests
Familial hemiplegic migraine	1 test
Familial hemophagocytic lymphohistiocytosis	1 test
Familial hemophagocytic lymphohistiocytosis 5	1 test
Familial hyperinsulinism	2 tests
Familial hypocalciuric hypercalcemia 1	1 test
Familial hypocalciuric hypercalcemia 2	1 test
Familial hypoparathyroidism	1 test
Familial infantile myasthenia	1 test
Familial infantile myoclonic epilepsy	3 tests
Familial isolated deficiency of vitamin E	1 test
Familial juvenile hyperuricemic nephropathy type 1	1 test
Familial melanoma	2 tests
Familial multiple polyposis syndrome	3 tests
Familial partial lipodystrophy	3 tests
Familial partial lipodystrophy, Dunnigan type	3 tests
Familial partial lipodystrophy, Kobberling type	3 tests
Familial thoracic aortic aneurysm and aortic dissection	1 test
Fanconi anemia	3 tests
Fanconi anemia complementation group A	1 test
Fanconi anemia complementation group B	1 test
Fanconi anemia complementation group C	1 test
Fanconi anemia complementation group D1	1 test
Fanconi anemia complementation group D2	1 test
Fanconi anemia complementation group E	1 test
Fanconi anemia complementation group F	1 test
Fanconi anemia complementation group G	1 test
Fanconi anemia complementation group I	1 test
Fanconi anemia complementation group J	2 tests
Fanconi anemia complementation group L	1 test
Fanconi anemia complementation group N	4 tests
Fanconi anemia complementation group O	3 tests
Fanconi anemia complementation group P	1 test
Fanconi anemia complementation group Q	1 test
Fanconi anemia complementation group R	2 tests
Fanconi anemia complementation group T	2 tests
Fanconi anemia complementation group U	1 test
Fanconi anemia, complementation group S	1 test
Feingold syndrome	1 test
Floating-Harbor syndrome	1 test
Focal segmental glomerulosclerosis	1 test
Fragile X-associated tremor/ataxia syndrome	2 tests
Freeman-Sheldon syndrome	1 test
Friedreich ataxia	2 tests
Friedreich ataxia 1	1 test
Friedreich ataxia 2	1 test
Frontometaphyseal dysplasia	1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	1 test
Frontonasal dysplasia with alopecia and genital anomaly	1 test
Frontorhiny	2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	2 tests
Fucosidosis	1 test
Fumarase deficiency	1 test
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	3 tests
GM1 gangliosidosis	1 test
GM1 gangliosidosis type 3	1 test
GM2-gangliosidosis, B, B1, AB variant	1 test
GM3 synthase deficiency	2 tests
GNE myopathy	2 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	1 test
Galactosialidosis, adult	1 test
Galactosylceramide beta-galactosidase deficiency	1 test
Galloway-Mowat syndrome 1	1 test
Gamma-glutamylcysteine synthetase deficiency	1 test
Gastrointestinal stromal tumor	1 test
Gaucher disease due to saposin C deficiency	1 test
Generalized epilepsy with febrile seizures plus, type 2	3 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome	1 test
Generalized juvenile polyposis/juvenile polyposis coli	3 tests
Giant axonal neuropathy 1	1 test
Gilbert syndrome	1 test
Glanzmann thrombasthenia	1 test
Glioma susceptibility 9	5 tests
Glucocorticoid deficiency with achalasia	1 test
Glutaric aciduria, type 1	1 test
Glutathione synthetase deficiency without 5-oxoprolinuria	1 test
Glycogen storage disease	2 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	1 test
Glycogen storage disease, type II	2 tests
Glycogen storage disease, type IV	1 test
Glycogen storage disease, type V	2 tests
Goldberg-Shprintzen syndrome	2 tests
Gray platelet syndrome	1 test
Greig cephalopolysyndactyly syndrome	2 tests
Griscelli syndrome type 1	1 test
Griscelli syndrome type 2	1 test
Griscelli syndrome type 3	1 test
Hand-foot-genital syndrome	1 test
Hecht syndrome	1 test
Hemolytic anemia	1 test
Hemolytic anemia due to glucophosphate isomerase deficiency	1 test
Hemolytic-uremic syndrome	1 test
Hereditary acrodermatitis enteropathica	1 test
Hereditary amyloidosis	1 test
Hereditary breast ovarian cancer syndrome	9 tests
Hereditary diffuse gastric adenocarcinoma	3 tests
Hereditary diffuse leukoencephalopathy with spheroids	1 test
Hereditary episodic ataxia	1 test
Hereditary hemorrhagic telangiectasia	1 test
Hereditary hyperferritinemia with congenital cataracts	1 test
Hereditary nonpolyposis colon cancer	7 tests
Hereditary pheochromocytoma-paraganglioma	2 tests
Hereditary sideroblastic anemia	2 tests
Hereditary spastic paraplegia	1 test
Hereditary spastic paraplegia 17	1 test
Hereditary spastic paraplegia 26	1 test
Hereditary spastic paraplegia 35	1 test
Hereditary spastic paraplegia 56	1 test
Hereditary spastic paraplegia 57	1 test
Hereditary spastic paraplegia 62	1 test
Hereditary spastic paraplegia 75	1 test
Hereditary spastic paraplegia 77	1 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	1 test
Hermansky-Pudlak syndrome	1 test
Heterotopia, periventricular, X-linked dominant	1 test
Hogue-Janssens syndrome 1	1 test
Holocarboxylase synthetase deficiency	1 test
Holoprosencephaly sequence	1 test
Homocystinuria	1 test
Hoyeraal-Hreidarsson syndrome	1 test
Hydrocephalus	1 test
Hydrolethalus syndrome 2	1 test
Hyper-IgE recurrent infection syndrome 3, autosomal recessive	1 test
Hyperinsulinemic hypoglycemia, familial, 1	1 test
Hyperinsulinemic hypoglycemia, familial, 2	1 test
Hyperinsulinemic hypoglycemia, familial, 4	1 test
Hyperinsulinism due to INSR deficiency	1 test
Hyperinsulinism due to glucokinase deficiency	2 tests
Hyperinsulinism-hyperammonemia syndrome	1 test
Hyperkalemic periodic paralysis	1 test
Hypermanganesemia with dystonia 2	1 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis	1 test
Hyperparathyroidism	1 test
Hyperphenylalaninemia due to DNAJC12 deficiency	1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	2 tests
Hypertensive disorder	1 test
Hypertrichosis cubiti-short stature syndrome	1 test
Hypertrophic cardiomyopathy	2 tests
Hypertrophic cardiomyopathy 9	1 test
Hypobetalipoproteinemia	1 test
Hypocalcemia	1 test
Hypocalcemia, autosomal dominant, with bartter syndrome	1 test
Hypoceruloplasminemia	2 tests
Hypogonadotropic hypogonadism 1 with or without anosmia	2 tests
Hypogonadotropic hypogonadism 10 with or without anosmia	1 test
Hypogonadotropic hypogonadism 11 with or without anosmia	1 test
Hypogonadotropic hypogonadism 12 with or without anosmia	1 test
Hypogonadotropic hypogonadism 14 with or without anosmia	1 test
Hypogonadotropic hypogonadism 16 with or without anosmia	2 tests
Hypogonadotropic hypogonadism 18 with or without anosmia	2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia	1 test
Hypogonadotropic hypogonadism 20 with or without anosmia	1 test
Hypogonadotropic hypogonadism 22 with or without anosmia	2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia	2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia	2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia	2 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy	3 tests
Hypoparathyroidism	1 test
Hypoparathyroidism-retardation-dysmorphism syndrome	1 test
Hypophosphatemic rickets	2 tests
Hypospadias 2, X-linked	1 test
Hypothyroidism, congenital, nongoitrous, 2	1 test
Hypotonia	1 test
Hypotonia, ataxia, and delayed development syndrome	1 test
IMAGe syndrome	2 tests
Idiopathic basal ganglia calcification 1	1 test
Immunodeficiency 11b with atopic dermatitis	1 test
Immunodeficiency 14	1 test
Immunodeficiency 23	1 test
Immunodeficiency, common variable, 2	1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	2 tests
Infantile bilateral striatal necrosis	2 tests
Infantile cerebellar-retinal degeneration	1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	1 test
Infantile convulsions and choreoathetosis	1 test
Infantile neuroaxonal dystrophy	2 tests
Infantile onset spinocerebellar ataxia	1 test
Infantile-onset ascending hereditary spastic paralysis	2 tests
Inherited bone marrow failure syndrome	1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans	1 test
Intellectual developmental disorder with autism and macrocephaly	1 test
Intellectual disability	1 test
Intellectual disability, CASK-related, X-linked	2 tests
Intellectual disability, X-linked, syndromic, 35	2 tests
Intellectual disability, X-linked, syndromic, Bain type	1 test
Intellectual disability, X-linked, with or without seizures, arx-related	1 test
Intellectual disability, autosomal dominant 1	2 tests
Intellectual disability, autosomal dominant 13	2 tests
Intellectual disability, autosomal dominant 20	1 test
Intellectual disability, autosomal dominant 27	1 test
Intellectual disability, autosomal dominant 40	1 test
Intellectual disability, autosomal dominant 42	1 test
Intellectual disability, autosomal dominant 43	1 test
Intellectual disability, autosomal dominant 5	2 tests
Intellectual disability, autosomal recessive 13	2 tests
Intellectual disability, autosomal recessive 34	1 test
Intellectual disability, autosomal recessive 43	2 tests
Intellectual disability, autosomal recessive 46	1 test
Intellectual disability, autosomal recessive 53	1 test
Intellectual disability, profound	4 tests
Interstitial lung disease 2	2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	1 test
Irinotecan response	1 test
Johanson-Blizzard syndrome	2 tests
Joubert syndrome 1	1 test
Joubert syndrome 10	2 tests
Joubert syndrome 13	1 test
Joubert syndrome 14	1 test
Joubert syndrome 15	2 tests
Joubert syndrome 16	1 test
Joubert syndrome 17	1 test
Joubert syndrome 18	3 tests
Joubert syndrome 2	1 test
Joubert syndrome 20	1 test
Joubert syndrome 21	2 tests
Joubert syndrome 22	1 test
Joubert syndrome 23	1 test
Joubert syndrome 3	1 test
Joubert syndrome 5	1 test
Joubert syndrome 6	1 test
Joubert syndrome 7	1 test
Joubert syndrome 8	1 test
Joubert syndrome 9	1 test
Joubert syndrome with renal defect	1 test
Juberg-Marsidi syndrome	1 test
Juvenile (Subacute) Hexosaminidase A Deficiency	1 test
Juvenile myelomonocytic leukemia	1 test
Juvenile myoclonic epilepsy	2 tests
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	2 tests
KBG syndrome	2 tests
Kabuki syndrome	2 tests
Kabuki syndrome 1	1 test
Keppen-Lubinsky syndrome	3 tests
Kleefstra syndrome 1	1 test
Knobloch syndrome	1 test
Kufor-Rakeb syndrome	3 tests
L-2-hydroxyglutaric aciduria	3 tests
LEOPARD syndrome 1	1 test
LIPE-related familial partial lipodystrophy	2 tests
Landau-Kleffner syndrome	2 tests
Leigh syndrome	2 tests
Lesch-Nyhan syndrome	1 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	2 tests
Lethal osteosclerotic bone dysplasia	1 test
Leukemia, acute lymphoblastic, susceptibility to	1 test
Leukemia, acute lymphoblastic, susceptibility to, 3	1 test
Leukodystrophy	2 tests
Leukoencephalopathy	1 test
Leukoencephalopathy with mild cerebellar ataxia and white matter edema	1 test
Leukoencephalopathy, progressive, with ovarian failure	2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	1 test
Leydig cell agenesis	2 tests
Leydig cell hypoplasia, type II	1 test
Li-Fraumeni syndrome	8 tests
Li-Fraumeni syndrome 2	1 test
Li-fraumeni-like syndrome	1 test
Lichtenstein-Knorr syndrome	1 test
Limb-girdle muscular dystrophy	3 tests
Limb-girdle muscular dystrophy due to POMK deficiency	2 tests
Linear skin defects with multiple congenital anomalies 1	3 tests
Lipoyl transferase 1 deficiency	1 test
Lissencephaly	2 tests
Lissencephaly 4	2 tests
Lissencephaly 6 with microcephaly	2 tests
Lissencephaly 7 with cerebellar hypoplasia	1 test
Lissencephaly 8	1 test
Loeys-Dietz syndrome 2	1 test
Luscan-Lumish syndrome	1 test
Lymphoma	1 test
Lymphoma, non-Hodgkin, familial	1 test
Lymphoproliferative syndrome 1	1 test
Lymphoproliferative syndrome 2	1 test
MEGF10-related myopathy	2 tests
MEHMO syndrome	1 test
MERRF syndrome	1 test
MIRAGE syndrome	4 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	1 test
MYH7-related skeletal myopathy	2 tests
Macrocephaly	1 test
Macrocephaly and epileptic encephalopathy	1 test
Macrocephaly, dysmorphic facies, and psychomotor retardation	1 test
Macrocephaly, macrosomia, facial dysmorphism syndrome	1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	1 test
Macrothrombocytopenia, isolated, 1, autosomal dominant	1 test
Malan overgrowth syndrome	1 test
Malignant hyperthermia of anesthesia	1 test
Malignant hyperthermia, susceptibility to, 1	2 tests
Malignant tumor of esophagus	1 test
Malignant tumor of thyroid gland	1 test
Mandibular hypoplasia-deafness-progeroid syndrome	3 tests
Mandibuloacral dysplasia with type B lipodystrophy	3 tests
Mandibulofacial dysostosis-microcephaly syndrome	2 tests
Maple syrup urine disease	1 test
Marinesco-Sjögren syndrome	3 tests
Marshall-Smith syndrome	1 test
Mast syndrome	2 tests
Maturity onset diabetes mellitus in young	2 tests
Maturity-onset diabetes of the young type 1	1 test
Maturity-onset diabetes of the young type 10	1 test
Maturity-onset diabetes of the young type 11	1 test
Maturity-onset diabetes of the young type 2	2 tests
Maturity-onset diabetes of the young type 3	1 test
Maturity-onset diabetes of the young type 4	1 test
Maturity-onset diabetes of the young type 6	1 test
Maturity-onset diabetes of the young type 7	1 test
Maturity-onset diabetes of the young type 8	1 test
Maturity-onset diabetes of the young type 9	1 test
McKusick-Kaufman syndrome	1 test
McLeod neuroacanthocytosis syndrome	1 test
Meckel syndrome, type 1	2 tests
Meckel syndrome, type 10	2 tests
Meckel syndrome, type 11	1 test
Meckel syndrome, type 2	1 test
Meckel syndrome, type 3	1 test
Meckel syndrome, type 4	2 tests
Meckel syndrome, type 5	2 tests
Meckel syndrome, type 6	2 tests
Meckel syndrome, type 8	2 tests
Meckel syndrome, type 9	2 tests
Meckel-Gruber syndrome	4 tests
Megaconial type congenital muscular dystrophy	3 tests
Megalencephalic leukoencephalopathy with subcortical cysts	3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	1 test
Meier-Gorlin syndrome	2 tests
Meier-Gorlin syndrome 2	1 test
Meier-Gorlin syndrome 3	1 test
Meier-Gorlin syndrome 4	1 test
Meier-Gorlin syndrome 5	1 test
Meier-Gorlin syndrome 7	1 test
Melanoma	2 tests
Melnick-Needles syndrome	1 test
Menkes kinky-hair syndrome	1 test
Merosin deficient congenital muscular dystrophy	3 tests
Metachromatic leukodystrophy	2 tests
Metaphyseal chondrodysplasia, Jansen type	1 test
Methemoglobinemia type 4	2 tests
Methylmalonic acidemia	1 test
Mevalonic aciduria	1 test
Microcephalic osteodysplastic primordial dwarfism type II	2 tests
Microcephalic primordial dwarfism due to RTTN deficiency	1 test
Microcephalic primordial dwarfism due to ZNF335 deficiency	1 test
Microcephalic primordial dwarfism, Alazami type	1 test
Microcephaly 1, primary, autosomal recessive	1 test
Microcephaly 13, primary, autosomal recessive	1 test
Microcephaly 14, primary, autosomal recessive	1 test
Microcephaly 15, primary, autosomal recessive	1 test
Microcephaly 17, primary, autosomal recessive	2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2 tests
Microcephaly 3, primary, autosomal recessive	1 test
Microcephaly 4, primary, autosomal recessive	1 test
Microcephaly 5, primary, autosomal recessive	2 tests
Microcephaly 6, primary, autosomal recessive	1 test
Microcephaly 7, primary, autosomal recessive	2 tests
Microcephaly 8, primary, autosomal recessive	1 test
Microcephaly 9, primary, autosomal recessive	1 test
Microcephaly and chorioretinopathy 1	1 test
Microcephaly and chorioretinopathy 2	2 tests
Microcephaly and chorioretinopathy 3	1 test
Microcephaly with Polymicrogyria	1 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	1 test
Microcephaly, epilepsy, and diabetes syndrome	1 test
Microcephaly, normal intelligence and immunodeficiency	1 test
Microcephaly, seizures, and developmental delay	4 tests
Microcephaly, short stature, and impaired glucose metabolism 1	3 tests
Microcephaly, short stature, and impaired glucose metabolism 2	2 tests
Microcephaly-capillary malformation syndrome	1 test
Microphthalmia with brain and digit anomalies	1 test
Miller syndrome	1 test
Mismatch repair cancer syndrome 1	4 tests
Mitochondrial DNA depletion syndrome 1	1 test
Mitochondrial DNA depletion syndrome 13	1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	1 test
Mitochondrial DNA depletion syndrome 8B (MNGIE type)	1 test
Mitochondrial DNA depletion syndrome 9	1 test
Mitochondrial complex I deficiency	1 test
Mitochondrial complex II deficiency, nuclear type 1	1 test
Mitochondrial complex III deficiency	1 test
Mitochondrial disease	2 tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	1 test
Mitochondrial trifunctional protein deficiency	1 test
Monogenic Non-Syndromic Obesity, Autosomal Recessive	1 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect	1 test
Mowat-Wilson syndrome	4 tests
Muir-Torré syndrome	4 tests
Mullerian aplasia and hyperandrogenism	2 tests
Multiminicore myopathy	2 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 2	1 test
Multiple endocrine neoplasia type 4	1 test
Multiple endocrine neoplasia, type 1	3 tests
Multiple endocrine neoplasia, type 2	3 tests
Multiple self-healing squamous epithelioma	1 test
Multiple sulfatase deficiency	1 test
Muscular dystrophy-dystroglycanopathy	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	1 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	2 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14	3 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	2 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	2 tests
Muscular dystrophy-dystroglycanopathy type B5	2 tests
Muscular dystrophy-dystroglycanopathy type B6	2 tests
Myasthenia, limb-girdle, autoimmune	1 test
Myasthenic syndrome, congenital, 1B, fast-channel	1 test
Myasthenic syndrome, slow-channel congenital	1 test
Myelodysplasia	2 tests
Myelodysplastic syndrome	4 tests
Myoclonic dystonia 26	1 test
Myoclonic-astatic epilepsy	1 test
Myoclonus, familial, 1	1 test
Myofibrillar myopathy	2 tests
Myofibrillar myopathy 2	2 tests
Myofibrillar myopathy 3	2 tests
Myofibrillar myopathy 4	2 tests
Myofibrillar myopathy 5	2 tests
Myofibrillar myopathy 6	2 tests
Myofibrillar myopathy 7	1 test
Myopathy, centronuclear, 2	1 test
Myopathy, centronuclear, 5	2 tests
Myopathy, congenital, with excess of muscle spindles	3 tests
Myopathy, congenital, with fiber-type disproportion, X-linked	1 test
Myopathy, myofibrillar, 9, with early respiratory failure	3 tests
Myopathy, proximal, and ophthalmoplegia	2 tests
Myopathy, tubular aggregate, 2	2 tests
Myosin storage myopathy	1 test
N-acetylaspartate deficiency	1 test
NPHP3-related Meckel-like syndrome	1 test
Nager syndrome	1 test
Nemaline myopathy	2 tests
Nemaline myopathy 10	3 tests
Nemaline myopathy 2	3 tests
Nemaline myopathy 5	1 test
Nemaline myopathy 6	3 tests
Nemaline myopathy 7	3 tests
Nemaline myopathy 8	1 test
Nemaline myopathy 9	1 test
Neonatal diabetes mellitus	3 tests
Neonatal diabetes mellitus with congenital hypothyroidism	1 test
Neonatal-onset encephalopathy with rigidity and seizures	1 test
Nephronophthisis	4 tests
Nephronophthisis 12	1 test
Nephronophthisis 14	1 test
Nephronophthisis 15	1 test
Nephronophthisis 16	1 test
Nephronophthisis 18	1 test
Nephronophthisis 19	1 test
Nephrotic syndrome	2 tests
Neu-Laxova syndrome 1	1 test
Neuroblastoma	1 test
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	1 test
Neurodegeneration with brain iron accumulation	3 tests
Neurodegeneration with brain iron accumulation 4	1 test
Neurodegeneration with brain iron accumulation 5	2 tests
Neuroferritinopathy	1 test
Neurofibromatosis, type 1	1 test
Neurofibromatosis, type 2	1 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	1 test
Neuromuscular disease, congenital, with uniform type 1 fiber	1 test
Neuronal ceroid lipofuscinosis	2 tests
Neuronal ceroid lipofuscinosis 1	1 test
Neuronal ceroid lipofuscinosis 10	1 test
Neuronal ceroid lipofuscinosis 11	1 test
Neuronal ceroid lipofuscinosis 13	1 test
Neuronal ceroid lipofuscinosis 2	1 test
Neuronal ceroid lipofuscinosis 3	1 test
Neuronal ceroid lipofuscinosis 5	1 test
Neuronal ceroid lipofuscinosis 7	1 test
Neuronal ceroid lipofuscinosis 8	1 test
Neuropathy, congenital hypomyelinating, autosomal dominant	1 test
Neuropathy, hereditary motor and sensory, type 6B	1 test
Neutral 1 amino acid transport defect	1 test
Nicolaides-Baraitser syndrome	2 tests
Non-syndromic X-linked intellectual disability	1 test
Nonimmune chronic idiopathic neutropenia of adults	1 test
Noonan syndrome	1 test
Noonan syndrome 1	1 test
Noonan syndrome-like disorder with loose anagen hair 2	1 test
Norman-Roberts syndrome	1 test
Obesity	2 tests
Obesity due to congenital leptin deficiency	1 test
Obesity due to leptin receptor gene deficiency	1 test
Obesity due to pro-opiomelanocortin deficiency	1 test
Obesity, hyperphagia, and developmental delay	1 test
Ocular albinism, type I	1 test
Oculocutaneous albinism	1 test
Oculocutaneous albinism type 7	2 tests
Oculodentodigital dysplasia	2 tests
Oculofaciocardiodental syndrome	1 test
Optic atrophy	1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	1 test
Optic atrophy 11	1 test
Ornithine carbamoyltransferase deficiency	1 test
Orofacial-digital syndrome IV	1 test
Orofaciodigital syndrome I	2 tests
Osteocraniostenosis	1 test
Osteodysplastic primordial dwarfism, type 1	1 test
Oto-palato-digital syndrome, type I	1 test
Oto-palato-digital syndrome, type II	1 test
Ovarian cancer	3 tests
Ovarian dysgenesis 1	2 tests
Ovarian dysgenesis 2	2 tests
Ovarian dysgenesis 3	3 tests
PCWH syndrome	1 test
PHARC syndrome	1 test
PPARG-related familial partial lipodystrophy	3 tests
PTEN hamartoma tumor syndrome	4 tests
Palmoplantar hyperkeratosis and true hermaphroditism	1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	2 tests
Pancreatic agenesis 1	1 test
Pancytopenia due to IKZF1 mutations	4 tests
Paragangliomas 1	2 tests
Paragangliomas 2	2 tests
Paragangliomas 3	2 tests
Paragangliomas 4	2 tests
Paragangliomas 5	1 test
Paris-Trousseau thrombocytopenia	1 test
Parkinson disease	1 test
Parkinsonism-dystonia, infantile	1 test
Paroxysmal nonkinesigenic dyskinesia	2 tests
Partial adenosine deaminase deficiency	1 test
Partial androgen insensitivity syndrome	2 tests
Paternal uniparental disomy of chromosome 14	1 test
Pelizaeus-Merzbacher disease	2 tests
Pelviscapular dysplasia	1 test
Pendred syndrome	1 test
Periventricular heterotopia with microcephaly, autosomal recessive	3 tests
Peroxisome biogenesis disorder	1 test
Perrault syndrome 1	1 test
Perrault syndrome 3	1 test
Persistent Mullerian duct syndrome	1 test
Peters plus syndrome	3 tests
Pettigrew syndrome	1 test
Peutz-Jeghers syndrome	5 tests
Pheochromocytoma	2 tests
Phosphoribosylpyrophosphate synthetase superactivity	1 test
Pitt-Hopkins syndrome	4 tests
Pitt-Hopkins-like syndrome 2	1 test
Platelet-type bleeding disorder 15	1 test
Platelet-type bleeding disorder 16	1 test
Platelet-type bleeding disorder 17	1 test
Platelet-type bleeding disorder 19	1 test
Platelet-type bleeding disorder 20	1 test
Poikiloderma with neutropenia	2 tests
Polycystic kidney disease 2	1 test
Polycystic kidney disease 3 with or without polycystic liver disease	1 test
Polycystic kidney disease, adult type	1 test
Polyendocrine-polyneuropathy syndrome	1 test
Polyposis syndrome, hereditary mixed, 1	1 test
Pontocerebellar hypoplasia type 2	1 test
Pontoneocerebellar hypoplasia	1 test
Popliteal pterygium syndrome	1 test
Posterior column ataxia-retinitis pigmentosa syndrome	1 test
Prader-Willi syndrome	4 tests
Premature ovarian failure	2 tests
Premature ovarian failure 3	2 tests
Premature ovarian failure 5	2 tests
Premature ovarian failure 6	2 tests
Premature ovarian failure 7	2 tests
Premature ovarian failure 9	2 tests
Primary Familial Brain Calcification 5	1 test
Primrose syndrome	2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome	3 tests
Progressive external ophthalmoplegia	3 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	1 test
Progressive myoclonic epilepsy	1 test
Progressive myoclonic epilepsy type 3	1 test
Progressive myoclonic epilepsy type 5	1 test
Progressive myoclonic epilepsy type 6	1 test
Progressive myoclonic epilepsy type 7	1 test
Progressive myoclonic epilepsy type 9	1 test
Proximal myopathy with extrapyramidal signs	1 test
Pseudohypoparathyroidism	2 tests
Pseudohypoparathyroidism type 1B	1 test
Pseudohypoparathyroidism type 1C	1 test
Pseudopseudohypoparathyroidism	2 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	2 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related	1 test
Pure gonadal dysgenesis 46,XY	1 test
Purine-nucleoside phosphorylase deficiency	1 test
Pyridoxine-dependent epilepsy	2 tests
Pyruvate dehydrogenase complex deficiency	2 tests
Qualitative or quantitative defects of dystrophin	2 tests
RASopathy	1 test
RIDDLE syndrome	1 test
RIN2 syndrome	1 test
Radial aplasia-thrombocytopenia syndrome	2 tests
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	1 test
Refsum disease, adult, 1	1 test
Renal dysplasia and retinal aplasia	1 test
Renal tubular dysgenesis	1 test
Renpenning syndrome	1 test
Retinitis pigmentosa 71	1 test
Rett syndrome	5 tests
Rett syndrome, congenital variant	3 tests
Rhabdoid tumor predisposition syndrome 2	1 test
Rhizomelic chondrodysplasia punctata type 1	1 test
Rhizomelic chondrodysplasia punctata type 2	1 test
Rhizomelic chondrodysplasia punctata type 3	1 test
Riboflavin transporter deficiency	1 test
Rippling muscle disease 2	2 tests
Roberts-SC phocomelia syndrome	3 tests
Robinow syndrome	1 test
Rubinstein-Taybi syndrome	2 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	1 test
SHORT syndrome	4 tests
SRD5A3-congenital disorder of glycosylation	1 test
STAT3-related early-onset multisystem autoimmune disease	2 tests
Saldino-Mainzer syndrome	1 test
Salla disease	1 test
Sandhoff disease	1 test
Sarcotubular myopathy	2 tests
Schaaf-Yang syndrome	2 tests
Schinzel phocomelia syndrome	1 test
Schinzel-Giedion syndrome	2 tests
Sclerosteosis 2	1 test
Seckel syndrome	2 tests
Seckel syndrome 2	1 test
Seckel syndrome 4	2 tests
Seckel syndrome 5	2 tests
Seckel syndrome 6	1 test
Seckel syndrome 7	1 test
Seckel syndrome 8	1 test
Seizures, benign familial infantile, 3	1 test
Seizures, benign familial infantile, 5	1 test
Seizures, benign familial neonatal, 3	1 test
Senior-Loken syndrome 8	1 test
Sensorineural deafness with mild renal dysfunction	1 test
Severe X-linked myotubular myopathy	3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	1 test
Severe congenital neutropenia	3 tests
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	1 test
Severe intellectual disability-progressive spastic diplegia syndrome	1 test
Severe myoclonic epilepsy in infancy	1 test
Severe neurodegenerative syndrome with lipodystrophy	1 test
Shashi-Pena syndrome	1 test
Short stature with microcephaly and distinctive facies	2 tests
Short stature, microcephaly, and endocrine dysfunction	1 test
Short stature-brachydactyly-obesity-global developmental delay syndrome	1 test
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	1 test
Short-rib thoracic dysplasia 10 with or without polydactyly	1 test
Short-rib thoracic dysplasia 14 with polydactyly	1 test
Short-rib thoracic dysplasia 6 with or without polydactyly	1 test
Short-rib thoracic dysplasia 8 with or without polydactyly	1 test
Shprintzen-Goldberg syndrome	1 test
Shwachman syndrome	2 tests
Sialidosis type 1	1 test
Sifrim-Hitz-Weiss syndrome	1 test
Silver-Russell syndrome 1	1 test
Simpson-Golabi-Behmel syndrome type 1	1 test
Simpson-Golabi-Behmel syndrome type 2	1 test
Sitosterolemia	1 test
Smith-Lemli-Opitz syndrome	2 tests
Sotos syndrome	2 tests
Spastic ataxia	2 tests
Spastic ataxia 5	1 test
Spastic paraplegia	2 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity	3 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome	2 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	3 tests
Sphingomyelin/cholesterol lipidosis	2 tests
Spinocerebellar ataxia 43	1 test
Spinocerebellar ataxia 7	1 test
Spinocerebellar ataxia type 1	2 tests
Spinocerebellar ataxia type 10	1 test
Spinocerebellar ataxia type 11	1 test
Spinocerebellar ataxia type 12	1 test
Spinocerebellar ataxia type 13	1 test
Spinocerebellar ataxia type 14	1 test
Spinocerebellar ataxia type 15/16	1 test
Spinocerebellar ataxia type 17	1 test
Spinocerebellar ataxia type 19/22	1 test
Spinocerebellar ataxia type 2	1 test
Spinocerebellar ataxia type 21	1 test
Spinocerebellar ataxia type 23	1 test
Spinocerebellar ataxia type 26	1 test
Spinocerebellar ataxia type 27	1 test
Spinocerebellar ataxia type 28	1 test
Spinocerebellar ataxia type 31	1 test
Spinocerebellar ataxia type 35	1 test
Spinocerebellar ataxia type 38	1 test
Spinocerebellar ataxia type 40	1 test
Spinocerebellar ataxia type 41	1 test
Spinocerebellar ataxia type 42	1 test
Spinocerebellar ataxia type 5	1 test
Spinocerebellar ataxia type 6	1 test
Spinocerebellar ataxia type 8	1 test
Spinocerebellar ataxia, autosomal recessive 22	1 test
Spinocerebellar ataxia, autosomal recessive 23	1 test
Spinocerebellar ataxia, autosomal recessive 24	1 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy	1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	3 tests
Statin-induced myopathy	2 tests
Sterol carrier protein 2 deficiency	1 test
Striatonigral degeneration, childhood-onset	1 test
Stromme syndrome	1 test
Subcortical laminar heterotopia, X-linked	1 test
Succinate-semialdehyde dehydrogenase deficiency	1 test
Sudden infant death-dysgenesis of the testes syndrome	1 test
Sulfite oxidase deficiency	2 tests
Syndactyly-telecanthus-anogenital and renal malformations syndrome	1 test
Syndromic X-linked intellectual disability 34	1 test
Syndromic X-linked intellectual disability Claes-Jensen type	1 test
Syndromic X-linked intellectual disability Najm type	4 tests
TELO2-related intellectual disability-neurodevelopmental disorder	1 test
Tatton-Brown-Rahman overgrowth syndrome	1 test
Tay-Sachs disease	1 test
Tenorio syndrome	1 test
Terminal osseous dysplasia-pigmentary defects syndrome	1 test
Testicular anomalies with or without congenital heart disease	2 tests
Testosterone 17-beta-dehydrogenase deficiency	2 tests
Thrombocytopenia	2 tests
Thrombocytopenia 1	1 test
Thrombocytopenia 2	3 tests
Thrombocytopenia 4	1 test
Thrombocytopenia 5	2 tests
Thyroid dyshormonogenesis	1 test
Thyroid gland carcinoma	1 test
Thyroid hormone resistance syndrome	1 test
Tibial muscular dystrophy	1 test
Torsion dystonia 2	1 test
Torsion dystonia 4	1 test
Torsion dystonia 6	1 test
Townes-Brocks syndrome 1	1 test
Transcobalamin II deficiency	1 test
Transitory neonatal diabetes mellitus	1 test
Treacher Collins syndrome	1 test
Troyer syndrome	2 tests
Tuberous sclerosis syndrome	2 tests
Tubulointerstitial kidney disease, autosomal dominant, 2	1 test
Tumor predisposition syndrome 3	3 tests
Type 2 diabetes mellitus	2 tests
Typical absence seizure	2 tests
Ullrich congenital muscular dystrophy 1A	2 tests
Upshaw-Schulman syndrome	1 test
Urocanate hydratase deficiency	1 test
Usher syndrome type 3B	1 test
Van Maldergem syndrome 2	1 test
Van den Ende-Gupta syndrome	1 test
Vanishing white matter disease	1 test
Vasculitis due to ADA2 deficiency	1 test
Vitamin B12-responsive methylmalonic acidemia, type cblDv2	1 test
Von Hippel-Lindau syndrome	3 tests
Von Willebrand disease type 2B	1 test
Waardenburg syndrome type 2A	1 test
Walker-Warburg congenital muscular dystrophy	1 test
Warburg micro syndrome	1 test
Warburg micro syndrome 1	1 test
Warburg micro syndrome 4	1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis	3 tests
Weaver syndrome	2 tests
Werner syndrome	2 tests
West syndrome	2 tests
Wilson disease	3 tests
Wiskott-Aldrich syndrome	1 test
Wolcott-Rallison dysplasia	1 test
Wolfram syndrome	2 tests
Wolfram syndrome 2	1 test
Woodhouse-Sakati syndrome	1 test
X-linked Emery-Dreifuss muscular dystrophy	2 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	2 tests
X-linked erythropoietic protoporphyria	1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	1 test
X-linked intellectual disability	1 test
X-linked intellectual disability Cabezas type	2 tests
X-linked intellectual disability, Cantagrel type	2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome	3 tests
X-linked lissencephaly with abnormal genitalia	2 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency	1 test
X-linked progressive cerebellar ataxia	1 test
X-linked severe congenital neutropenia	1 test
X-linked sideroblastic anemia with ataxia	1 test
Xeroderma pigmentosum	2 tests
Yunis-Varon syndrome	1 test

ClinVar

Relating variation to medicine

Genetic Services Laboratory (University of Chicago)

General information

Personnel

Assertion criteria

Summary of submissions to ClinVar

Gene

Condition

Testing in GTR