Institute of Human Genetics (Cologne University)
General information
Institute of Human Genetics
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629
Personnel
- Christian Netzer, Lab Director
Phone: 004922147886811
Email: christian.netzer@uk-koeln.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 497
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 4 | Jan 3, 2022 |
ACTA1 | 1 | May 11, 2018 |
ACTA2 | 2 | Dec 17, 2021 |
ACTN4 | 1 | Jun 6, 2017 |
ADAR | 1 | Sep 23, 2019 |
ADNP | 1 | Nov 21, 2019 |
ADPRS | 1 | Oct 2, 2020 |
AEBP1 | 1 | Dec 17, 2021 |
AFF2 | 1 | Dec 15, 2021 |
AGPAT2 | 1 | Jul 16, 2019 |
AGTPBP1 | 2 | Oct 2, 2020 |
AGXT | 1 | Apr 26, 2022 |
ALG1 | 1 | Mar 5, 2021 |
ANLN | 1 | Sep 4, 2020 |
AQP2 | 1 | Jun 8, 2017 |
AQP5-AS1 | 1 | Jun 8, 2017 |
ARHGEF10 | 2 | Nov 28, 2018 |
ARHGEF9 | 1 | Dec 29, 2020 |
ARID1B | 5 | Sep 20, 2021 |
ARSA | 1 | Oct 2, 2020 |
ARX | 1 | Dec 17, 2021 |
ASXL3 | 1 | Sep 15, 2023 |
ATAD3A | 1 | Dec 5, 2023 |
ATOH7 | 1 | May 22, 2023 |
ATP7A | 1 | May 11, 2018 |
AUTS2 | 1 | Jan 10, 2024 |
AVPR2 | 1 | Oct 24, 2016 |
B4GAT1 | 1 | Dec 5, 2023 |
BBS10 | 1 | Aug 19, 2019 |
BCL11A | 1 | Mar 30, 2020 |
BCOR | 1 | Dec 17, 2021 |
BICD2 | 1 | May 11, 2018 |
BMPR2 | 2 | Dec 17, 2021 |
C1GALT1C1 | 1 | Apr 1, 2022 |
C3 | 1 | Mar 5, 2021 |
CACNA1H | 1 | Sep 20, 2021 |
CAPN3 | 1 | Oct 18, 2017 |
CASR | 5 | Dec 17, 2021 |
CDK5RAP2 | 1 | Jan 30, 2023 |
CFH | 4 | Jan 10, 2024 |
CFTR | 2 | Oct 23, 2020 |
CFTR-AS1 | 1 | Aug 30, 2018 |
CHD1L | 1 | Apr 11, 2019 |
CHD4 | 1 | Sep 4, 2020 |
CHD7 | 5 | Dec 17, 2021 |
CHD8 | 1 | Dec 17, 2021 |
CHKB | 1 | Dec 17, 2021 |
CHKB-CPT1B | 1 | Dec 17, 2021 |
CHRNG | 1 | Jan 19, 2018 |
CHST3 | 1 | Oct 5, 2023 |
CLCN1 | 1 | May 11, 2018 |
COL11A2 | 1 | Sep 28, 2020 |
COL12A1 | 2 | May 11, 2018 |
COL1A1 | 12 | Apr 18, 2023 |
COL1A2 | 9 | Jan 10, 2024 |
COL2A1 | 3 | Sep 15, 2023 |
COL3A1 | 2 | Sep 28, 2017 |
COL4A3 | 5 | Apr 25, 2022 |
COL4A4 | 9 | Aug 8, 2022 |
COL4A5 | 15 | Jan 10, 2024 |
COL5A1 | 2 | Aug 8, 2022 |
COL5A2 | 1 | Apr 2, 2020 |
COL6A1 | 1 | May 11, 2018 |
COL6A2 | 1 | May 11, 2018 |
COL6A3 | 1 | May 11, 2018 |
COL9A3 | 1 | Apr 6, 2021 |
CRTAP | 1 | Aug 2, 2017 |
CTNS | 3 | Mar 24, 2020 |
CTNS-AS1 | 1 | Mar 7, 2018 |
CYP24A1 | 1 | Nov 14, 2019 |
DHDDS | 1 | Dec 5, 2023 |
DHTKD1 | 2 | May 11, 2018 |
DLG4 | 1 | Dec 17, 2021 |
DNAAF3 | 1 | Dec 5, 2023 |
DNAAF3-AS1 | 1 | Dec 5, 2023 |
DNAI2 | 1 | Apr 18, 2023 |
DNAJB11 | 2 | May 19, 2021 |
DNM1L | 1 | Oct 2, 2020 |
DNMT3A | 1 | May 22, 2019 |
DOK7 | 1 | Dec 17, 2021 |
DSG1 | 2 | Apr 25, 2022 |
DSG1-AS1 | 2 | Apr 25, 2022 |
DYRK1A | 1 | Jan 30, 2023 |
EBP | 1 | Apr 18, 2023 |
ECEL1 | 2 | Dec 4, 2018 |
ECHS1 | 1 | Oct 2, 2020 |
EEF2KMT | 1 | Mar 5, 2021 |
EFTUD2 | 2 | Apr 25, 2022 |
EGR2 | 1 | Oct 2, 2020 |
ENO3 | 1 | Jan 10, 2024 |
ERCC6 | 1 | Dec 11, 2018 |
ETFDH | 1 | May 11, 2018 |
EXOSC3 | 1 | Oct 2, 2020 |
EXT2 | 1 | Aug 8, 2022 |
EYA1 | 1 | Feb 14, 2020 |
EZH2 | 1 | Jul 16, 2019 |
FANCA | 3 | Jul 3, 2023 |
FARS2 | 1 | Dec 17, 2021 |
FAT1 | 1 | Sep 26, 2019 |
FBLN5 | 1 | May 11, 2018 |
FBN1 | 14 | Jan 10, 2024 |
FBXO11 | 1 | Dec 17, 2021 |
FBXO38 | 1 | May 11, 2018 |
FDXR | 1 | Oct 2, 2020 |
FH | 1 | Mar 9, 2020 |
FKBP10 | 1 | May 21, 2019 |
FKRP | 1 | Dec 29, 2017 |
FLCN | 2 | Feb 26, 2024 |
FUS | 2 | May 11, 2018 |
FXN | 1 | May 11, 2018 |
GAN | 1 | May 11, 2018 |
GARS1 | 3 | Dec 17, 2021 |
GBF1 | 4 | Aug 11, 2020 |
GDAP1 | 3 | May 11, 2018 |
GLS | 1 | Feb 26, 2024 |
GNA11 | 1 | Dec 5, 2019 |
GNAS | 1 | Mar 13, 2024 |
GNPTAB | 1 | Dec 6, 2018 |
GPR143 | 1 | Feb 26, 2024 |
GREB1L | 1 | Dec 17, 2021 |
GRHPR | 1 | Dec 19, 2018 |
GRIN2A | 1 | Apr 18, 2023 |
HINT1 | 1 | May 11, 2018 |
HIVEP2 | 1 | Aug 8, 2022 |
HNF1B | 2 | Jul 15, 2019 |
HNF4A | 1 | Sep 4, 2017 |
HNRNPK | 1 | May 12, 2021 |
HPRT1 | 1 | Aug 8, 2022 |
HSPB1 | 1 | May 11, 2018 |
HSPD1 | 1 | May 22, 2019 |
IFIH1 | 1 | Sep 23, 2019 |
IFT140 | 1 | Dec 17, 2021 |
IGHMBP2 | 4 | May 11, 2018 |
INPPL1 | 1 | Nov 28, 2018 |
IPO8 | 1 | Dec 5, 2023 |
JAG1 | 2 | Jan 30, 2023 |
KCNH1 | 1 | Sep 4, 2019 |
KCNT2 | 1 | Jul 12, 2021 |
KIF1B | 1 | May 11, 2018 |
KIF26A | 1 | Jan 10, 2024 |
KIF5C | 2 | Jul 30, 2019 |
KMT2D | 3 | May 11, 2018 |
KMT2E | 18 | May 11, 2021 |
LAMA1 | 1 | Dec 17, 2021 |
LAMB2 | 1 | Jun 30, 2017 |
LDLR | 1 | Dec 17, 2021 |
LGI4 | 2 | May 11, 2018 |
LIFR | 2 | Feb 1, 2021 |
LMX1B | 4 | Dec 5, 2019 |
LOC100507346 | 1 | Dec 17, 2021 |
LOC101927521 | 1 | Dec 17, 2021 |
LOC107032760 | 1 | Aug 8, 2022 |
LOC107303340 | 1 | Mar 5, 2021 |
LOC107982234 | 1 | Jun 8, 2017 |
LOC126807255 | 1 | Sep 26, 2019 |
LOC126862124 | 1 | Sep 24, 2019 |
LOC126862260 | 1 | Dec 17, 2021 |
LOC126862586 | 1 | Dec 5, 2019 |
LOC126863239 | 1 | Dec 17, 2021 |
LOC129929047 | 1 | Aug 8, 2022 |
LOC129930352 | 1 | Jul 4, 2019 |
LOC129935184 | 1 | Oct 2, 2020 |
LOC130059837 | 1 | Jul 3, 2023 |
LOC132090497 | 1 | Nov 5, 2019 |
LRP2 | 2 | Apr 17, 2019 |
LRP5 | 1 | Mar 21, 2019 |
LZTR1 | 1 | Aug 9, 2018 |
MACF1 | 6 | Oct 2, 2020 |
MAGEL2 | 1 | Jan 11, 2019 |
MAP2K1 | 1 | Mar 30, 2020 |
MARS1 | 1 | May 11, 2018 |
MBD5 | 1 | Aug 28, 2020 |
MEF2C | 1 | May 22, 2023 |
MEN1 | 1 | Jun 3, 2020 |
MET | 1 | Jan 17, 2018 |
MFF-DT | 5 | Apr 25, 2022 |
MFN2 | 4 | May 11, 2018 |
MME | 1 | May 11, 2018 |
MMP21 | 2 | Jul 3, 2023 |
MORC2 | 1 | May 11, 2018 |
MPV17 | 1 | Oct 2, 2020 |
MPZ | 3 | Dec 17, 2021 |
MTMR2 | 1 | May 11, 2018 |
MTRFR | 1 | Oct 2, 2020 |
MYH3 | 1 | Jan 25, 2022 |
MYH7 | 1 | Feb 26, 2024 |
MYLK | 1 | Apr 5, 2017 |
NBAS | 1 | Dec 17, 2021 |
NDUFS6 | 1 | Oct 2, 2020 |
NEXMIF | 1 | Nov 2, 2020 |
NF1 | 3 | Jan 10, 2024 |
NFIX | 1 | Apr 18, 2023 |
NFKB1 | 2 | Dec 17, 2021 |
NIPBL | 1 | Jul 16, 2019 |
NLGN3 | 1 | Dec 15, 2021 |
NOTCH2 | 1 | Dec 19, 2018 |
NOTCH3 | 1 | Apr 18, 2023 |
NPHP3 | 1 | Jul 14, 2017 |
NPHP3-ACAD11 | 1 | Jul 14, 2017 |
NPR2 | 2 | May 22, 2023 |
NR3C2 | 1 | Apr 25, 2022 |
NUP93 | 1 | Sep 15, 2023 |
OCA2 | 1 | Nov 6, 2020 |
OSGEP | 1 | Jan 3, 2022 |
P3H1 | 2 | Nov 2, 2022 |
P4HB | 1 | Jan 30, 2023 |
PACS2 | 1 | Dec 17, 2021 |
PAX6 | 1 | Dec 17, 2021 |
PAX8 | 1 | Dec 17, 2021 |
PAX8-AS1 | 1 | Dec 17, 2021 |
PCDH15 | 1 | Dec 3, 2021 |
PDXK | 1 | Oct 2, 2020 |
PEX26 | 1 | May 22, 2023 |
PGAP2 | 2 | Apr 25, 2022 |
PHEX | 2 | Feb 26, 2024 |
PIEZO2 | 3 | Sep 15, 2023 |
PIGN | 1 | Nov 5, 2019 |
PKD1 | 20 | Apr 18, 2023 |
PKD1-AS1 | 1 | Dec 17, 2021 |
PKD2 | 7 | Feb 26, 2024 |
PKHD1 | 3 | Apr 25, 2022 |
PLCE1 | 1 | Apr 25, 2022 |
PLEKHG5 | 3 | May 11, 2018 |
PLOD2 | 1 | Jun 11, 2018 |
PLS3 | 1 | Aug 7, 2017 |
PNPLA8 | 2 | Dec 17, 2021 |
POGZ | 1 | Dec 17, 2021 |
POLG | 2 | Mar 20, 2024 |
POLGARF | 2 | Mar 20, 2024 |
PPARG | 1 | Jan 30, 2023 |
PRX | 2 | Dec 16, 2021 |
PTCH1 | 1 | Dec 17, 2021 |
PTCHD1-AS | 2 | Feb 26, 2024 |
PUF60 | 1 | May 22, 2023 |
RAF1 | 1 | Apr 25, 2023 |
RARB | 1 | Dec 17, 2021 |
ROBO4 | 1 | Dec 17, 2021 |
RORB | 1 | May 22, 2023 |
RUNX2 | 1 | Dec 16, 2021 |
SACS | 1 | May 11, 2018 |
SALL1 | 1 | Aug 8, 2022 |
SCN1A | 1 | Aug 8, 2022 |
SCN2A | 1 | Dec 5, 2023 |
SCN8A | 2 | Oct 17, 2023 |
SDHD | 1 | Nov 21, 2019 |
SEC24D | 2 | Dec 5, 2023 |
SEPSECS | 2 | Oct 2, 2020 |
SERPINF1 | 1 | Mar 21, 2019 |
SETD1A | 1 | Apr 25, 2022 |
SETX | 4 | Oct 2, 2020 |
SH3TC2 | 1 | Jul 24, 2019 |
SIN3A | 1 | May 22, 2023 |
SLC12A3 | 2 | Sep 6, 2017 |
SLC12A6 | 1 | May 11, 2018 |
SLC16A2 | 1 | Dec 15, 2021 |
SLC2A2 | 1 | May 31, 2017 |
SLC34A3 | 1 | Apr 25, 2022 |
SLC3A1 | 1 | Aug 10, 2017 |
SLC4A4 | 1 | Jun 11, 2018 |
SLC52A2 | 2 | May 11, 2018 |
SLC5A7 | 1 | May 11, 2018 |
SLC7A9 | 2 | Oct 17, 2023 |
SMAD3 | 4 | Dec 5, 2023 |
SMARCA2 | 1 | Oct 24, 2016 |
SMARCAL1 | 2 | Jan 7, 2019 |
SMN1 | 1 | Apr 2, 2020 |
SOD1 | 2 | May 11, 2018 |
SON | 1 | May 22, 2019 |
SPG11 | 1 | Oct 2, 2020 |
SPG7 | 2 | May 11, 2018 |
SRCAP | 1 | Jan 30, 2019 |
SRPK2 | 3 | May 11, 2021 |
STAT3 | 1 | Dec 17, 2021 |
SUCLA2 | 1 | Dec 17, 2021 |
SYNE1 | 1 | May 11, 2018 |
TAF8 | 1 | Oct 17, 2023 |
TAPBPL | 1 | May 11, 2018 |
TAPT1 | 1 | May 2, 2023 |
TCF20 | 1 | Sep 15, 2023 |
TGFB2 | 2 | Aug 8, 2022 |
TGFBR1 | 1 | Dec 5, 2019 |
TGM5 | 1 | Dec 5, 2023 |
TIGD1 | 1 | Jan 19, 2018 |
TLK2 | 1 | Apr 6, 2021 |
TNNI3 | 1 | May 4, 2018 |
TRIO | 1 | May 22, 2023 |
TRPV4 | 2 | Nov 28, 2018 |
TSC2 | 4 | Jun 3, 2020 |
TSFM | 1 | Oct 17, 2023 |
TTN | 7 | Feb 26, 2024 |
TTN-AS1 | 7 | Feb 26, 2024 |
TUBA1A | 1 | Nov 30, 2018 |
TUBB3 | 1 | Jan 30, 2019 |
UBE3B | 1 | Jan 30, 2023 |
UMOD | 4 | Mar 5, 2021 |
UNC45B | 1 | Jan 10, 2024 |
USH1C | 2 | Sep 15, 2023 |
USH1G | 1 | Jan 30, 2023 |
VAMP1 | 1 | May 11, 2018 |
VCP | 1 | May 11, 2018 |
VHL | 2 | Mar 5, 2021 |
VPS13D | 2 | Oct 2, 2020 |
WAC | 1 | Jan 30, 2023 |
WDR19 | 2 | May 22, 2023 |
WNK4 | 1 | Feb 14, 2018 |
WT1 | 1 | Jun 8, 2017 |
ZFYVE26 | 2 | May 11, 2018 |
ZNF469 | 1 | May 29, 2018 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
11p partial monosomy syndrome | 1 test |
AIP-Related Familial Isolated Pituitary Adenomas | 1 test |
AKT2-related familial partial lipodystrophy | 1 test |
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | 1 test |
Achondroplasia | 1 test |
Acquired partial lipodystrophy | 1 test |
Actin accumulation myopathy | 1 test |
Adams-Oliver syndrome | 1 test |
Aicardi Goutieres syndrome | 1 test |
Aldosterone-producing adrenal cortex adenoma | 1 test |
Alport syndrome | 2 tests |
Aminoglycoside-induced deafness | 1 test |
Amyloid Cardiomyopathy, Transthyretin-related | 1 test |
Amyotrophic lateral sclerosis | 2 tests |
Amyotrophic lateral sclerosis type 1 | 1 test |
Amyotrophic lateral sclerosis type 10 | 1 test |
Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
Amyotrophic lateral sclerosis type 6 | 1 test |
Amyotrophic lateral sclerosis type 8 | 1 test |
Aneurysm-osteoarthritis syndrome | 1 test |
Aniridia 1 | 1 test |
Antenatal Bartter syndrome | 1 test |
Arthrogryposis, distal, type 1A | 1 test |
Arthrogryposis, distal, type 1B | 1 test |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 test |
Atypical Rett syndrome | 1 test |
Atypical hemolytic-uremic syndrome | 2 tests |
Atypical hemolytic-uremic syndrome with B factor anomaly | 1 test |
Atypical hemolytic-uremic syndrome with C3 anomaly | 1 test |
Atypical hemolytic-uremic syndrome with I factor anomaly | 1 test |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 test |
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 test |
Autosomal dominant Alport syndrome | 1 test |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
Autosomal dominant hypocalcemia | 1 test |
Autosomal dominant hypocalcemia 1 | 1 test |
Autosomal dominant hypocalcemia 2 | 1 test |
Autosomal dominant keratitis | 1 test |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 test |
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | 2 tests |
Autosomal dominant nocturnal frontal lobe epilepsy | 1 test |
Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
Autosomal dominant polycystic kidney disease | 2 tests |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
Autosomal recessive Alport syndrome | 1 test |
Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
Autosomal recessive limb-girdle muscular dystrophy | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 test |
Autosomal recessive multiple pterygium syndrome | 2 tests |
Autosomal recessive nonsyndromic hearing loss 1A | 2 tests |
Autosomal recessive polycystic kidney disease | 2 tests |
Autosomal recessive primary microcephaly | 2 tests |
Autosomal recessive proximal renal tubular acidosis | 1 test |
Autosomal recessive pseudohypoaldosteronism type 1 | 1 test |
Bardet-Biedl syndrome | 1 test |
Bardet-Biedl syndrome 10 | 1 test |
Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic | 1 test |
Bartter disease type 1 | 1 test |
Bartter disease type 2 | 1 test |
Bartter disease type 3 | 1 test |
Bartter disease type 4A | 1 test |
Bartter disease type 4B | 1 test |
Bartter disease type 5 | 1 test |
Bartter syndrome | 2 tests |
Bartter syndrome with hypocalcemia | 1 test |
Bartter syndrome, type 3, with hypocalciuria | 1 test |
Becker muscular dystrophy | 1 test |
Benign familial hematuria | 1 test |
Benign familial neonatal-infantile seizures 1 | 1 test |
Berardinelli-Seip congenital lipodystrophy | 1 test |
Bethlem myopathy 1A | 2 tests |
Birt-Hogg-Dube syndrome | 2 tests |
Bone mineral density quantitative trait locus 18 | 1 test |
Brittle cornea syndrome 1 | 1 test |
Bruck syndrome | 2 tests |
Bruck syndrome 1 | 1 test |
Bruck syndrome 2 | 1 test |
CHRNA1-Related Congenital Myasthenic Syndrome | 1 test |
CIDEC-related familial partial lipodystrophy | 1 test |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
Cardiac valvular dysplasia, X-linked | 1 test |
Cardiomyopathy | 1 test |
Charcot-Marie-Tooth disease | 1 test |
Ciliary dyskinesia | 1 test |
Classic homocystinuria | 1 test |
Cobalamin C disease | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 2 tests |
Coenzyme Q10 deficiency, primary, 3 | 2 tests |
Coffin Siris/Intellectual Disability | 1 test |
Coffin-Siris syndrome | 2 tests |
Coffin-Siris syndrome 1 | 1 test |
Coffin-Siris syndrome 5 | 1 test |
Coffin-Siris syndrome 7 | 1 test |
Cole-Carpenter syndrome | 1 test |
Cole-Carpenter syndrome 1 | 1 test |
Cole-Carpenter syndrome 2 | 1 test |
Collagen 6-related myopathy | 1 test |
Collagen IV-related nephropathies | 1 test |
Coloboma of optic nerve | 1 test |
Combined molybdoflavoprotein enzyme deficiency | 1 test |
Combined oxidative phosphorylation defect type 11 | 1 test |
Complex cortical dysplasia with other brain malformations | 1 test |
Congenital absence of salivary gland | 1 test |
Congenital anomaly of kidney and urinary tract | 1 test |
Congenital disorder of glycosylation | 1 test |
Congenital fibrosis of extraocular muscles | 1 test |
Congenital generalized lipodystrophy type 2 | 1 test |
Congenital generalized lipodystrophy type 4 | 1 test |
Congenital intestinal transport defect | 1 test |
Congenital muscular dystrophy | 2 tests |
Congenital muscular dystrophy due to LMNA mutation | 1 test |
Congenital myasthenic syndrome | 2 tests |
Congenital myasthenic syndrome 4C | 1 test |
Congenital myasthenic syndrome 5 | 1 test |
Congenital myopathy | 1 test |
Congenital myopathy 10b, mild variant | 1 test |
Congenital myopathy with fiber type disproportion | 1 test |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
Cornelia de Lange syndrome 1 | 1 test |
Craniolenticulosutural dysplasia | 1 test |
Craniosynostosis and dental anomalies | 1 test |
Cystic fibrosis | 2 tests |
Cystinosis | 1 test |
Cystinosis, atypical nephropathic | 1 test |
Cystinuria | 1 test |
Cystinuria type A | 1 test |
Cystinuria type B | 1 test |
Cystinuria, type a/b | 1 test |
DNA ligase IV deficiency | 1 test |
De Lange syndrome | 3 tests |
Dent disease type 1 | 1 test |
Dentinogenesis imperfecta | 1 test |
Diabetes insipidus, neurohypophyseal, X-linked | 1 test |
Distal arthrogryposis | 2 tests |
Distal arthrogryposis type 2B1 | 1 test |
Distal myopathy | 1 test |
Distal myopathy with anterior tibial onset | 1 test |
Distal myopathy, Tateyama type | 1 test |
Distal renal tubular acidosis | 1 test |
Duane anomaly | 1 test |
Duane-radial ray syndrome | 1 test |
Duchenne muscular dystrophy | 1 test |
EAST syndrome | 1 test |
Early infantile epileptic encephalopathy with suppression bursts | 2 tests |
Ehlers-Danlos syndrome | 2 tests |
Ehlers-Danlos syndrome, classic type | 1 test |
Ehlers-Danlos syndrome, type 3 | 1 test |
Ehlers-Danlos syndrome, type 4 | 2 tests |
Ehlers-Danlos syndrome, type 4 variant | 1 test |
Eichsfeld type congenital muscular dystrophy | 1 test |
Epilepsy, familial focal, with variable foci 1 | 1 test |
Epilepsy, familial temporal lobe, 1 | 1 test |
Facial nerve disorder | 1 test |
Familial amyloid neuropathy | 1 test |
Familial aplasia of the vermis | 1 test |
Familial hyperaldosteronism | 2 tests |
Familial hyperaldosteronism type II | 1 test |
Familial hyperaldosteronism type III | 1 test |
Familial hypocalciuric hypercalcemia | 1 test |
Familial hypocalciuric hypercalcemia 1 | 1 test |
Familial hypocalciuric hypercalcemia 2 | 1 test |
Familial hypocalciuric hypercalcemia 3 | 1 test |
Familial hypokalemia-hypomagnesemia | 2 tests |
Familial idiopathic steroid-resistant nephrotic syndrome | 2 tests |
Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
Familial juvenile hyperuricemic nephropathy type 2 | 1 test |
Familial medullary thyroid carcinoma | 1 test |
Familial partial epilepsy | 1 test |
Familial partial lipodystrophy | 1 test |
Familial partial lipodystrophy, Dunnigan type | 2 tests |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | 1 test |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 2 tests |
Familial thoracic aortic aneurysm and aortic dissection | 2 tests |
Fanconi anemia | 1 test |
Fetal akinesia deformation sequence 1 | 2 tests |
Finnish congenital nephrotic syndrome | 1 test |
Focal segmental glomerulosclerosis | 2 tests |
Focal segmental glomerulosclerosis 1 | 1 test |
Focal segmental glomerulosclerosis 2 | 1 test |
Focal segmental glomerulosclerosis 4, susceptibility to | 1 test |
Focal segmental glomerulosclerosis 5 | 1 test |
Focal segmental glomerulosclerosis 6 | 1 test |
Focal segmental glomerulosclerosis 9 | 1 test |
Foveal hypoplasia 1 | 1 test |
Freeman-Sheldon syndrome | 1 test |
Fumarase deficiency | 1 test |
Galloway-Mowat syndrome | 2 tests |
Galloway-Mowat syndrome 1 | 1 test |
Galloway-Mowat syndrome 3 | 1 test |
Generalized epilepsy with febrile seizures plus | 1 test |
Generalized myoclonic-atonic seizure | 1 test |
Genetic glomerular disease | 1 test |
Genetic hypertension | 1 test |
Genetic interstitial lung disease | 1 test |
Genetic neuromuscular disease | 1 test |
Glucocorticoid-remediable aldosteronism | 1 test |
Gnathodiaphyseal dysplasia | 1 test |
Gordon syndrome | 1 test |
Hecht syndrome | 1 test |
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 test |
Hemolytic uremic syndrome, atypical, susceptibility to, 7 | 1 test |
Hereditary Nephrotic Syndromes, Autosomal Recessive | 1 test |
Hereditary Paraganglioma-Pheochromacytoma Syndrome | 1 test |
Hereditary amyloidosis | 1 test |
Hereditary lipodystrophy | 1 test |
Hereditary pancreatitis | 1 test |
Hereditary pheochromocytoma-paraganglioma | 2 tests |
Hereditary spastic paraplegia | 1 test |
High bone mass osteogenesis imperfecta | 1 test |
Homocystinuria, cblD type, variant 1 | 1 test |
Horizontal gaze palsy with progressive scoliosis | 1 test |
Hypercalcemia, infantile, 1 | 1 test |
Hypercalcemia, infantile, 2 | 1 test |
Hypertensive disorder | 1 test |
Hypertrophic cardiomyopathy 1 | 1 test |
Hypocalcemia, autosomal dominant, with bartter syndrome | 1 test |
Hypochondroplasia | 1 test |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
Hypophosphatasia | 1 test |
Hypophosphatemic rickets | 1 test |
Idiopathic juvenile osteoporosis | 2 tests |
Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 test |
Infantile nephronophthisis | 1 test |
Infantile-onset X-linked spinal muscular atrophy | 1 test |
Infantile-onset ascending hereditary spastic paralysis | 1 test |
Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
Inherited renal tubular disease | 1 test |
Intellectual disability | 1 test |
Intellectual disability, autosomal dominant 14 | 1 test |
Intellectual disability, autosomal dominant 15 | 1 test |
Intellectual disability, autosomal dominant 16 | 1 test |
Isolated optic nerve hypoplasia | 1 test |
Jeune thoracic dystrophy | 1 test |
Juvenile amyotrophic lateral sclerosis | 1 test |
Juvenile nephropathic cystinosis | 1 test |
Juvenile primary lateral sclerosis | 1 test |
Kabuki syndrome | 1 test |
Kabuki syndrome 1 | 1 test |
Kabuki syndrome 2 | 1 test |
Karyomegalic interstitial nephritis | 1 test |
Keppen-Lubinsky syndrome | 1 test |
LAMB2-related infantile-onset nephrotic syndrome | 1 test |
LIPE-related familial partial lipodystrophy | 1 test |
Lambdoidal craniosynostosis | 1 test |
Leiomyoma of vulva and esophagus | 1 test |
Lesch-Nyhan syndrome | 1 test |
Lethal multiple pterygium syndrome | 1 test |
Levy-Hollister syndrome | 1 test |
Liddle syndrome 1 | 1 test |
Limb-girdle muscular dystrophy | 3 tests |
Limb-girdle muscular dystrophy due to POMK deficiency | 1 test |
Loeys-Dietz syndrome | 2 tests |
Loeys-Dietz syndrome 1 | 1 test |
Loeys-Dietz syndrome 2 | 1 test |
Loeys-Dietz syndrome 4 | 1 test |
MEGF10-related myopathy | 1 test |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 1 test |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | 1 test |
MYH9-related disorder | 1 test |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
Malignant migrating partial seizures of infancy | 1 test |
Mandibular hypoplasia-deafness-progeroid syndrome | 1 test |
Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
Marfan syndrome | 2 tests |
Maturity onset diabetes mellitus in young | 1 test |
Maturity-onset diabetes of the young type 1 | 1 test |
Maturity-onset diabetes of the young type 2 | 1 test |
Maturity-onset diabetes of the young type 3 | 1 test |
Meacham syndrome | 1 test |
Meckel-Gruber syndrome | 1 test |
Methylmalonic acidemia with homocystinuria cblC | 2 tests |
Methylmalonic aciduria and homocystinuria type cblD | 1 test |
Microangiopathic hemolytic anemia | 1 test |
Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
Microcephaly 3, primary, autosomal recessive | 1 test |
Microcephaly, normal intelligence and immunodeficiency | 1 test |
Mitochondrial DNA depletion syndrome 4b | 1 test |
Mitochondrial non-syndromic sensorineural hearing loss | 1 test |
Miyoshi muscular dystrophy 1 | 1 test |
Miyoshi muscular dystrophy 3 | 1 test |
Monogenic Non-Syndromic Obesity, Autosomal Recessive | 1 test |
Mosaic variegated aneuploidy syndrome | 1 test |
Mosaic variegated aneuploidy syndrome 1 | 1 test |
Mosaic variegated aneuploidy syndrome 3 | 1 test |
Motor neuron disease | 1 test |
Mucopolysaccharidosis | 1 test |
Muenke syndrome | 1 test |
Multiple cutaneous leiomyomas | 1 test |
Multiple endocrine neoplasia | 1 test |
Multiple endocrine neoplasia type 4 | 1 test |
Multiple endocrine neoplasia, type 1 | 1 test |
Multiple endocrine neoplasia, type 2 | 1 test |
Muscular dystrophy | 2 tests |
Muscular dystrophy, limb-girdle, autosomal dominant | 1 test |
Muscular dystrophy-dystroglycanopathy | 2 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 | 1 test |
Myopathy, myosin storage, autosomal recessive | 1 test |
Myosin storage myopathy | 1 test |
Myotonic syndrome | 1 test |
Nail-patella syndrome | 1 test |
Neonatal Marfan syndrome | 1 test |
Nephroblastoma | 1 test |
Nephrocalcinosis | 1 test |
Nephrogenic diabetes insipidus | 2 tests |
Nephrolithiasis | 1 test |
Nephronophthisis | 2 tests |
Nephronophthisis 1 | 1 test |
Nephronophthisis 3 | 1 test |
Nephropathic cystinosis | 1 test |
Nephrotic syndrome | 1 test |
Nephrotic syndrome, type 2 | 1 test |
Nephrotic syndrome, type 3 | 1 test |
Nephrotic syndrome, type 6 | 1 test |
Nephrotic syndrome, type 8 | 1 test |
Nephrotic syndrome, type 9 | 2 tests |
Nestor-Guillermo progeria syndrome | 1 test |
Neurohypophyseal diabetes insipidus | 1 test |
Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 test |
Nicolaides-Baraitser syndrome | 2 tests |
Nijmegen breakage syndrome-like disorder | 1 test |
Nonpapillary renal cell carcinoma | 1 test |
Noonan syndrome | 2 tests |
Obesity due to pro-opiomelanocortin deficiency | 2 tests |
Ocular cystinosis | 1 test |
Oromandibular-limb hypogenesis spectrum | 1 test |
Osteodysplastic primordial dwarfism, type 1 | 1 test |
Osteogenesis imperfecta | 3 tests |
Osteogenesis imperfecta type 10 | 1 test |
Osteogenesis imperfecta type 11 | 1 test |
Osteogenesis imperfecta type 12 | 1 test |
Osteogenesis imperfecta type 13 | 1 test |
Osteogenesis imperfecta type 14 | 1 test |
Osteogenesis imperfecta type 15 | 1 test |
Osteogenesis imperfecta type 17 | 1 test |
Osteogenesis imperfecta type 5 | 2 tests |
Osteogenesis imperfecta type 6 | 1 test |
Osteogenesis imperfecta type 7 | 1 test |
Osteogenesis imperfecta type 8 | 1 test |
Osteogenesis imperfecta type 9 | 1 test |
Osteogenesis imperfecta type I | 1 test |
Osteogenesis imperfecta type III | 1 test |
Osteogenesis imperfecta with normal sclerae, dominant form | 1 test |
Osteogenesis imperfecta, perinatal lethal | 1 test |
Osteoporosis with pseudoglioma | 2 tests |
PLIN1-related familial partial lipodystrophy | 1 test |
POLG-related disorder | 1 test |
PPARG-related familial partial lipodystrophy | 2 tests |
Papillary renal cell carcinoma type 1 | 1 test |
Paraganglioma | 1 test |
Paragangliomas 1 | 1 test |
Paragangliomas 2 | 1 test |
Paragangliomas 3 | 1 test |
Paragangliomas 4 | 1 test |
Paragangliomas 5 | 1 test |
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 1 test |
Pendred syndrome | 1 test |
Perlman syndrome | 1 test |
Peroxisome biogenesis disorder | 1 test |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
Pfeiffer syndrome | 2 tests |
Pheochromocytoma | 2 tests |
Pierson syndrome | 2 tests |
Pleuropulmonary blastoma | 1 test |
Polycystic kidney disease 2 | 1 test |
Polycystic kidney disease 3 with or without polycystic liver disease | 1 test |
Polycystic kidney disease 5 | 1 test |
Polycystic kidney disease 6 with or without polycystic liver disease | 1 test |
Polycystic kidney disease, adult type | 1 test |
Polycystic liver disease 4 with or without kidney cysts | 1 test |
Pontocerebellar hypoplasia type 2A | 1 test |
Pontocerebellar hypoplasia type 2B | 1 test |
Pontocerebellar hypoplasia type 2C | 1 test |
Pontocerebellar hypoplasia type 2D | 1 test |
Pontocerebellar hypoplasia type 4 | 1 test |
Pontocerebellar hypoplasia type 5 | 1 test |
Pontocerebellar hypoplasia type 6 | 1 test |
Pontoneocerebellar hypoplasia | 1 test |
Porphobilinogen synthase deficiency | 1 test |
Postmenopausal osteoporosis | 1 test |
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders | 1 test |
Primary familial hypertrophic cardiomyopathy | 1 test |
Primary hyperoxaluria | 4 tests |
Primary hyperoxaluria type 3 | 1 test |
Primary hyperoxaluria, type I | 1 test |
Primary hyperoxaluria, type II | 1 test |
Progeroid features-hepatocellular carcinoma predisposition syndrome | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 test |
Progressive sclerosing poliodystrophy | 1 test |
Proteasome-associated autoinflammatory syndrome 1 | 1 test |
Pseudohypoaldosteronism | 1 test |
Pseudohypoaldosteronism type 1 | 1 test |
Pseudohypoaldosteronism type 2A | 1 test |
Pseudohypoaldosteronism type 2B | 1 test |
Pseudohypoaldosteronism type 2C | 1 test |
Pseudohypoaldosteronism type 2D | 1 test |
Pseudohypoaldosteronism type 2E | 1 test |
Pulmonary hypertension, primary, 1 | 1 test |
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | 1 test |
Rare genetic epilepsy | 1 test |
Rare genetic renal disease | 1 test |
Renal coloboma syndrome | 4 tests |
Renal cysts and diabetes syndrome | 5 tests |
Renal hypodysplasia/aplasia 1 | 1 test |
Renal hypomagnesemia 5 with ocular involvement | 1 test |
Renal neoplasm | 1 test |
Renotubular dysgenesis | 2 tests |
Rett syndrome | 1 test |
Rippling muscle disease 2 | 1 test |
SHORT syndrome | 1 test |
Saethre-Chotzen syndrome | 2 tests |
Schaaf-Yang syndrome | 1 test |
Schimke immuno-osseous dysplasia | 2 tests |
Seckel syndrome | 2 tests |
Seckel syndrome 1 | 1 test |
Seckel syndrome 2 | 1 test |
Seckel syndrome 4 | 1 test |
Seckel syndrome 5 | 1 test |
Seckel syndrome 7 | 1 test |
Seckel syndrome 8 | 1 test |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 test |
Severe myoclonic epilepsy in infancy | 1 test |
Severe short stature | 1 test |
Short rib-polydactyly syndrome | 1 test |
Short stature, microcephaly, and endocrine dysfunction | 1 test |
Spinal muscular atrophy | 2 tests |
Sulfite oxidase deficiency | 1 test |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 test |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 test |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 test |
Syndromic X-linked intellectual disability Najm type | 1 test |
TARDBP-related frontotemporal dementia | 1 test |
TWIST1-related craniosynostosis | 1 test |
Thanatophoric dysplasia type 1 | 1 test |
Thrombotic thrombocytopenic purpura | 1 test |
Tuberous sclerosis 1 | 1 test |
Tuberous sclerosis 2 | 1 test |
Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 test |
Ullrich congenital muscular dystrophy | 1 test |
Ullrich congenital muscular dystrophy 1A | 2 tests |
Undetermined early-onset epileptic encephalopathy | 1 test |
Upshaw-Schulman syndrome | 1 test |
Van Maldergem syndrome | 1 test |
Ventriculomegaly-cystic kidney disease | 1 test |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | 1 test |
Von Hippel-Lindau syndrome | 3 tests |
WT1-Related Disorders | 1 test |
Werdnig-Hoffmann disease | 1 test |
Wilms tumor 1 | 1 test |
X-linked Alport syndrome | 1 test |
X-linked diffuse leiomyomatosis-Alport syndrome | 1 test |