U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 539

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh38:
Chr8:12721809-30183737
TNFRSF10A, TNFRSF10A-DT, TNFRSF10D, TRIM35, TRMT9B, NUGGC, PBK, NUDT18, TUSC3, VPS37A, TNFRSF10B, TNFRSF10C, NPM2, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, PIWIL2-DT, PNMA2, PNOC, POLR3D, PPP2R2A, PPP3CC, PSD3, PTK2B, R3HCC1, REEP4, RHOBTB2, SARAF, SCARA3, SCARA5, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SNORD3F, SORBS3, STC1, STMN4, XPO7, ZDHHC2, ZNF395, ADAM28, ADAM7, ADAM7-AS1, ADAM7-AS2, ADAMDEC1, ADRA1A, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BIN3-IT1, BMP1, BNIP3L, C8orf48, C8orf58, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, CNOT7, CSGALNACT1, DCTN6, DLC1, DMTN, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EGR3, ELP3, ENTPD4, ENTPD4-DT, EPHX2, ESCO2, EXTL3, EXTL3-AS1, FBXO16, FGF17, FGF20, FGL1, FHIP2B, FZD3, GFRA2, GNRH1, HMBOX1, HR, HRURF, INTS10, INTS9, KCTD9, KIF13B, LEPROTL1, LGI3, LINC00589, LINC00681, LINC02099, LINC02153, LINC02209, LINC02948, LINC03019, LINC03023, LINC03093, LOC100128993, LOC101929237, LOC101929258, LOC101929470, LOC102725080, LOC105379292, LOC105379301, LOC105379311, LOC105379314, LOC105379327, LOC105379331, LOC105379342, LOC107986876, LOC108254664, LOC110120768, LOC110120769, LOC110120770, LOC110121062, LOC110121196, LOC111255642, LOC111255645, LOC111465018, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC114827823, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121331295, LOC121331296, LOC121331297, LOC121740711, LOC121740712, LOC121740713, LOC121740714, LOC124049166, LOC124110275, LOC124110276, LOC124110277, LOC124153111, LOC124153112, LOC124153113, LOC124153114, LOC124153115, LOC124153116, LOC124153117, LOC124153118, LOC124153119, LOC124153120, LOC124153121, LOC124153122, LOC124153123, LOC124153124, LOC124153125, LOC124153126, LOC124153127, LOC124153128, LOC124153129, LOC124153130, LOC124153131, LOC124153132, LOC124153133, LOC124153134, LOC124153135, LOC124153136, LOC124153137, LOC124901868, LOC126860305, LOC126860306, LOC126860307, LOC126860308, LOC126860309, LOC126860310, LOC126860311, LOC126860312, LOC126860313, LOC126860314, LOC126860315, LOC126860316, LOC126860317, LOC126860318, LOC126860319, LOC126860320, LOC126860321, LOC126860322, LOC126860323, LOC126860324, LOC126860325, LOC126860326, LOC126860327, LOC126860328, LOC126860329, LOC126860330, LOC126860331, LOC126860332, LOC126860333, LOC126860334, LOC126860335, LOC126860336, LOC126860337, LOC126860338, LOC126860339, LOC126860340, LOC128772327, LOC128772328, LOC254896, LONRF1, LOXL2, LOXL2-AS1, LPL, LZTS1, LZTS1-AS1, MBOAT4, MICU3, MIR3148, MIR320A, MIR3622A, MIR3622B, MIR383, MIR3926-1, MIR3926-2, MIR4287, MIR4288, MIR548H4, MIR548V, MIR6841, MIR6842, MIR6843, MIR6876, MSR1, MTMR7, MTUS1, MTUS1-DT, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1
MicrocephalyPathogenic
(Aug 24, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr1:225273324
GRCh38:
Chr1:225085622
DNAH14K1136QSeizure, Intellectual disability, severe, Hypotonia,
Delayed speech and language development, Microcephaly		Uncertain significance
(May 17, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr1:225341492
GRCh38:
Chr1:225153790
DNAH14L1746SSeizure, Intellectual disability, severe, Hypotonia,
Delayed speech and language development, Microcephaly		Uncertain significance
(May 17, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr11:66190192-66190198
GRCh38:
Chr11:66422721-66422727
NPAS4S161fsMicrocephalyUncertain significance
(Mar 23, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr4:144457636-144457641
GRCh38:
Chr4:143536483-143536488
SMARCA5Pubertal developmental failure in females, Failure to thrive, Microcephaly,
Short stature		Pathogenic
(Jan 28, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr11:47442253
GRCh38:
Chr11:47420702
PSMC3R304WMicroretrognathia, Failure to thrive, Hip dysplasia,
Patent ductus arteriosus, Secundum atrial septal defect, Abnormality of the pulmonary veins,
Global developmental delay, Patent foramen ovale, Microcephaly,
High anterior hairline, PolymicrogyriaCerebellar vermis hypoplasia,
...see more		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr21:35288034
GRCh38:
Chr21:33915730
ATP5POQ12*Microcephaly, Seizure, Dysphagia,
Severe global developmental delay		Pathogenic
(Dec 22, 2021)		criteria provided, single submitter
8.
GRCh37:
Chr21:35279777
GRCh38:
Chr21:33907473
ATP5POMicrocephaly, Seizure, Dysphagia,
Severe global developmental delay		Pathogenic
(Dec 22, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr7:99697355
GRCh38:
Chr7:100099732
MCM7Q45*Astigmatism, Anisometropia, Trichiasis,
Microphthalmia, Deeply set eye, Progeroid facial appearance,
Hypermetropia, Microcephaly, Psychomotor retardation
Pathogenic
(Jun 23, 2021)		criteria provided, single submitter
10.
Familial Mediterranean feverPathogenic
(Dec 8, 2022)		criteria provided, single submitter
11.
GRCh37:
ChrX:153095738-153095744
GRCh38:
ChrX:153830283-153830289
PDZD4N4fsAbnormality of movement, Microcephaly, Hyperactivity,
Coarse facial features, Intellectual disability		Uncertain significance
(Oct 9, 2022)		no assertion criteria provided
12.
GRCh37:
Chr7:155389460-157960969
RBM33, DNAJB6, LMBR1, MNX1, NOM1, PTPRN2, RNF32, SHH, UBE3CMicrocephalyPathogenicno assertion criteria provided
13.
GRCh37:
Chr18:67671430
GRCh38:
Chr18:70004194
RTTNL1301S, L2213SMicrocephalyLikely pathogenic
(Aug 3, 2022)		no assertion criteria provided
14.
GRCh37:
Chr12:49333443
GRCh38:
Chr12:48939660
ARF3K127ESeizure, Heart, malformation of, Hypotonia,
Intellectual disability, Scoliosis, Atrophy/Degeneration affecting the central nervous system,
Microcephaly		Pathogeniccriteria provided, single submitter
15.
GRCh37:
Chr12:49333545
GRCh38:
Chr12:48939762
ARF3D93NMotor delay, Autism, Long neck,
Self-injurious behavior, Delayed social development, Abnormality of the dentition,
Delayed speech and language development, Clinodactyly, Neurodevelopmental delay,
Global developmental delay, Long earBifid uvula,
Pectus excavatum, Hypotonia, Intellectual disability,
Atrophy/Degeneration affecting the central nervous system, Microcephaly, ...see more		Pathogenic/Likely pathogenic
(Mar 21, 2023)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:49333839
GRCh38:
Chr12:48940056
ARF3D67VDystonic disorder, Intellectual disability, Scoliosis,
Atrophy/Degeneration affecting the central nervous system, Microcephaly		Pathogeniccriteria provided, single submitter
17.
GRCh37:
Chr12:49334845
GRCh38:
Chr12:48941062
ARF3L12VDystonic disorder, Intellectual disability, Scoliosis,
Atrophy/Degeneration affecting the central nervous system, Microcephaly		Likely pathogeniccriteria provided, single submitter
18.
GRCh38:
Chr18:69541066-80373285
CNDP2, LOC125371438, LOC125371439, LOC125371440, LOC126862827, LOC126862828, NFATC1, PARD6G, PARD6G-AS1, PTGR3, RBFA, MBP, MIR548AV, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC284240, LOC339298, NETO1, LOC126862796, LOC126862797, LOC125371443, LOC126862784, LOC126862785, LOC126862786, NETO1-DT, LOC125371441, LOC125371442, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, CYB5A, GTSCR1, HSBP1L1, KCNG2, LINC00683, LOC126862793, LOC126862794, LOC126862795, CTDP1, CTDP1-DT, LINC00908, LINC01029, LINC01541, LINC01879, DIPK1C, DOK6, FBXO15, GALR1, ADNP2, ATP9B, C18orf63, CBLN2, CD226, CNDP1, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT
Gray matter heterotopia, Failure to thrive, Microcephaly,
Parietal foramina, Intellectual disability, severe, Pulmonary valve stenosis,
Intellectual disability, Scoliosis, Proportionate short stature,
Nystagmus, Short stature ...see more		Pathogenic
(Apr 14, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr11:76910838
GRCh38:
Chr11:77199793
MYO7AMicrocephaly, Short stature, Global developmental delay,
Sensorineural hearing impairment		Uncertain significance
(Jun 1, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr16:75674214
GRCh38:
Chr16:75640316
KARS1Q114*, Q86*Microcephaly, Seizure, Global developmental delay,
Nystagmus		Likely pathogenic
(Aug 1, 2021)		criteria provided, single submitter
21.
GRCh37:
Chr12:27842080
GRCh38:
Chr12:27689147
PPFIBP1R730*, R852*, R877*, R883*Seizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr12:27825397
GRCh38:
Chr12:27672464
PPFIBP1Q298*, Q420*, Q434*, Q451*Seizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr12:27829363-27829373
GRCh38:
Chr12:27676430-27676440
PPFIBP1A337fs, A459fs, A473fs, A490fsSeizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr12:27800707
GRCh38:
Chr12:27647774
PPFIBP1R135*Seizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr12:27829418
GRCh38:
Chr12:27676485
PPFIBP1Q354*, Q476*, Q490*, Q507*Seizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr12:27841273
GRCh38:
Chr12:27688340
PPFIBP1R658*, R780*, R805*, R811*Seizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr12:27826745-27826746
GRCh38:
Chr12:27673812-27673813
PPFIBP1E320fs, E442fs, E456fs, E473fsSeizure, Cerebral calcification, Intellectual disability, severe,
Microcephaly		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr12:27842105
GRCh38:
Chr12:27689172
PPFIBP1Y738fs, Y860fs, Y885fs, Y891fsSeizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Pathogenic
(Apr 14, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr12:27820254
GRCh38:
Chr12:27667321
PPFIBP1Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, Seizure, Microcephaly,
Intellectual disability, severe, Cerebral calcification		Pathogenic
(May 10, 2023)		criteria provided, single submitter
30.
GRCh37:
Chr12:27835566
GRCh38:
Chr12:27682633
PPFIBP1G579V, G701V, G726V, G732VSeizure, Microcephaly, Intellectual disability, severe,
Cerebral calcification		Uncertain significance
(Apr 14, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr18:67742707-67742708
GRCh38:
Chr18:70075471-70075472
RTTNY1482fs, Y570fsnot providedPathogenic
(Jun 4, 2022)		criteria provided, single submitter
32.
GRCh37:
ChrX:110971437
GRCh38:
ChrX:111728209
ALG13V596F, V654F, V680F, V758FMicrocephalyLikely pathogenic
(Mar 18, 2021)		no assertion criteria provided
33.
GRCh37:
Chr1:145324298-146018577
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP
Microcephaly, Moderate global developmental delay, Pes valgus,
Failure to thrive, Pes cavus, Proportionate short stature,
Concomitant strabismus		Uncertain significance
(Nov 13, 2020)		criteria provided, single submitter
34.
GRCh37:
ChrX:6624655-7894210
PNPLA4, PUDP, STS, VCXAtonic seizure, Status epilepticus, Microcephaly
Uncertain significance
(Nov 26, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr3:142729607-157921084
AADAC, AADACL2, AGTR1, ANKUB1, ARHGEF26, C3orf33, CCNL1, CHST2, CLRN1, COMMD2, CP, CPA3, CPB1, DHX36, DIPK2A, EIF2A, ERICH6, GMPS, GPR149, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, KCNAB1, LEKR1, LINC02877, MBNL1, MED12L, MINDY4B, MME, P2RY1, P2RY12, P2RY13, P2RY14, PFN2, PLCH1, PLOD2, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PTX3, RAP2B, RNF13, RSRC1, SELENOT, SERP1, SHOX2, SIAH2, SLC33A1, SLC9A9, SSR3, SUCNR1, TIPARP, TM4SF1, TM4SF18, TM4SF4, TSC22D2, U2SURP, VEPH1, WWTR1, ZIC1, ZIC4
Microcephaly, Attention deficit hyperactivity disorder, Brachycephaly
Pathogenic
(Jun 30, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr1:220366699
GRCh38:
Chr1:220193357
RAB3GAP2R385CMicrophthalmia, Developmental cataract, Persistent pupillary membrane,
Microcephaly		Uncertain significance
(Dec 13, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr11:67888643
GRCh38:
Chr11:68121176
CHKAM1TSeizure, Microcephaly, Intellectual disability, severe
Uncertain significance
(Oct 15, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr11:67833357
GRCh38:
Chr11:68065890
CHKAF201L, F219L, F303L, F323L, F341L, F351LSeizure, Microcephaly, Intellectual disability, severe
Likely pathogenic
(Oct 15, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr11:67888630-67888631
GRCh38:
Chr11:68121163-68121164
CHKAC6fsSeizure, Microcephaly, Intellectual disability, severe
Likely pathogenic
(Oct 15, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr11:67842234
GRCh38:
Chr11:68074767
CHKAP176S, P194S, P204S, P54S, P72SSeizure, Microcephaly, Intellectual disability, severe
Likely pathogenic
(Oct 15, 2021)		criteria provided, single submitter
41.
GRCh37:
Chr11:67864527
GRCh38:
Chr11:68097060
CHKAR141W, R19WSeizure, Microcephaly, Intellectual disability, severe
Likely pathogenic
(Oct 15, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr9:95021199
GRCh38:
Chr9:92258917
IARS1D610E, D623E, D651E, D658E, D672EGlobal developmental delay, MicrocephalyUncertain significanceno assertion criteria provided
43.
GRCh37:
Chr9:95048023
GRCh38:
Chr9:92285741
IARS1E152fs, E193fs, E214fsGlobal developmental delay, MicrocephalyLikely pathogenicno assertion criteria provided
44.
GRCh37:
Chr20:10286825
GRCh38:
Chr20:10306177
SNAP25K201*Optic atrophy, Stereotypic movement disorder, Seizure,
Global developmental delay, Microcephaly, Early infantile epileptic encephalopathy with suppression bursts
Conflicting interpretations of pathogenicity
(Mar 22, 2021)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr15:45694840
Chr15:45702607
GRCh38:
Chr15:45402642
Chr15:45410409
AFG2B, AFG2BF71L, L438PHearing impairment, Visual impairment, Seizure,
Microcephaly, Spastic tetraparesis, Dystonic disorder,
Global developmental delay		Likely pathogenic
(Jul 27, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr7:99695858
GRCh38:
Chr7:100098235
MCM7G259A, G83AAstigmatism, Microcephaly, Psychomotor retardation,
Progeroid facial appearance, Anisometropia, Trichiasis,
Hypermetropia, Microphthalmia, Deeply set eye,
Meier-Gorlin syndrome		Pathogenic
(Jun 23, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:99459265-99459266
GRCh38:
Chr15:98916036-98916037
IGF1RP637fsGrowth delay due to insulin-like growth factor I resistance, MicrocephalyLikely pathogenic
(Jan 11, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr9:131745626-131745627
GRCh38:
Chr9:128983347-128983348
NUP188C617fsSandestig-stefanova syndrome, MicrocephalyLikely pathogenic
(Dec 14, 2020)		criteria provided, single submitter
49.
GRCh37:
Chr9:131760903
GRCh38:
Chr9:128998624
NUP188Sandestig-stefanova syndrome, MicrocephalyLikely pathogenic
(Dec 14, 2020)		criteria provided, single submitter
50.
GRCh37:
Chr14:99641223-99641235
GRCh38:
Chr14:99174886-99174898
BCL11BA575fs, A576fs, A646fs, A647fsMicrocephalyLikely pathogeniccriteria provided, single submitter
51.
GRCh37:
Chr1:197112655
GRCh38:
Chr1:197143525
ASPMR243*MicrocephalyPathogeniccriteria provided, single submitter
52.
GRCh37:
Chr10:115910972
GRCh38:
Chr10:114151213
CCDC186S256*Developmental stagnation, Microcephaly, Failure to thrive,
Seizure, Growth delay, EEG with spike-wave complexes,
Pulmonary valve stenosis, Severe global developmental delay, Relative macrocephaly,
Hypothyroidism		Pathogenic
(Mar 23, 2021)		criteria provided, single submitter
53.
GRCh37:
Chr10:122664156-122664159
GRCh38:
Chr10:120904644-120904647
WDR11Microcephaly, not providedPathogenic
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr10:122630821
GRCh38:
Chr10:120871309
WDR11N480fsMicrocephalyPathogeniccriteria provided, single submitter
55.
GRCh37:
Chr10:122662745
GRCh38:
Chr10:120903233
WDR11MicrocephalyPathogeniccriteria provided, single submitter
56.
GRCh37:
Chr10:122626642
GRCh38:
Chr10:120867130
WDR11Q419*MicrocephalyPathogenic
(May 11, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr3:112727085
GRCh38:
Chr3:113008238
NEPROA187T, A223T, A254T, A279T, A293T, A320T, A390TMicrocephaly, Abnormal cerebral white matter morphologyUncertain significance
(May 12, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr3:112724558
GRCh38:
Chr3:113005711
NEPROG307V, G343V, G374V, G399V, G413V, G440V, G510VMicrocephaly, Abnormal cerebral white matter morphologyUncertain significance
(May 12, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr10:94409743
GRCh38:
Chr10:92649986
KIF11MicrocephalyPathogenic
(Nov 25, 2020)		criteria provided, single submitter
60.
GRCh37:
Chr17:28445129
GRCh38:
Chr17:30118111
NSRP1Q18*not providedUncertain significance
(Jul 21, 2019)		criteria provided, single submitter
61.
GRCh37:
Chr17:28512285-28512286
GRCh38:
Chr17:30185267-30185268
NSRP1K371fs, K425fsNeurodevelopmental disorder with spasticity, seizures, and brain abnormalities, Seizure, Severe global developmental delay,
Microcephaly, Spasticity		Pathogenic
(Aug 18, 2022)		no assertion criteria provided
62.
GRCh37:
Chr17:28512372-28512375
GRCh38:
Chr17:30185354-30185357
NSRP1E401fs, E455fsNeurodevelopmental disorder with spasticity, seizures, and brain abnormalities, Seizure, Severe global developmental delay,
Microcephaly, Spasticity		Pathogenic
(Aug 18, 2022)		no assertion criteria provided
63.
GRCh37:
Chr12:3619010-5221363
TIGAR, AKAP3, C12orf4, CCND2, CRACR2A, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, PARP11, PRMT8, RAD51AP1
Global developmental delay, MicrocephalyPathogenic
(Mar 15, 2021)		criteria provided, single submitter
64.
GRCh37:
ChrX:41553564-41696352
CASK, GPR34, GPR82Neurodevelopmental delay, MicrocephalyPathogenic
(Mar 15, 2021)		criteria provided, single submitter
65.
GRCh37:
ChrX:41342834-43901936
CASK, GPR34, GPR82, MAOA, MAOB, NDPGlobal developmental delay, MicrocephalyPathogenic
(Mar 15, 2021)		criteria provided, single submitter
66.
GRCh37:
Chr1:240554955-247342593
AHCTF1, AKT3, CATSPERE, CEP170, CNST, COX20, CHML, DESI2, EFCAB2, EXO1, KMO, LINC02897, MAP1LC3C, OPN3, PLD5, RGS7, SCCPDH, ADSS2, FH, FMN2, GREM2, HNRNPU, KIF26B, SDCCAG8, SMYD3, SPMIP3, TFB2M, WDR64, ZBTB18, ZNF124, ZNF669, ZNF670, ZNF695
Cerebellar vermis hypoplasia, Seizure, Corpus callosum, agenesis of,
Global developmental delay, Microcephaly, Developmental regression
Pathogenic
(Mar 15, 2021)		criteria provided, single submitter
67.
GRCh37:
Chr7:116297277-126370694
POT1, PTPRZ1, RNF133, RNF148, RNU2-1, SLC13A1, SPAM1, ST7, TSPAN12, WASL, WNT16, WNT2, ST7-OT3, ST7-OT4, TAS2R16, TMEM229A, AASS, ANKRD7, ASB15, ASZ1, CADPS2, CAPZA2, CFTR, CPED1, CTTNBP2, FAM3C, FEZF1, GPR37, GRM8, HYAL4, ING3, IQUB, KCND2, LMOD2, LSM8, MET, NDUFA5
Short stature, Global developmental delay, Microcephaly
Pathogenic
(Mar 15, 2021)		criteria provided, single submitter
68.
GRCh37:
Chr5:136409875-137739167
BRD8, CDC23, CDC25C, FAM13B, FAM53C, GFRA3, HNRNPA0, KDM3B, KIF20A, KLHL3, MYOT, NME5, PKD2L2, SPOCK1, WNT8A
Neurodevelopmental delay, MicrocephalyPathogenic
(Mar 15, 2021)		criteria provided, single submitter
69.
GRCh37:
ChrX:61091-787353
Generalized hypotonia, Lissencephaly, Microcephaly,
Corpus callosum, agenesis of		Pathogenic
(Oct 1, 2020)		criteria provided, single submitter
70.
GRCh37:
Chr4:1957823
GRCh38:
Chr4:1956096
NSD2W930*MicrocephalyUncertain significance
(Feb 9, 2021)		criteria provided, single submitter
71.
GRCh37:
Chr11:14496127
GRCh38:
Chr11:14474581
COPB1F551VBaralle-Macken syndrome, Microcephaly, Cataract,
Immunodeficiency, Intellectual disability, severe		Pathogenic/Likely pathogenic
(Apr 9, 2021)		no assertion criteria provided
72.
GRCh37:
Chr11:14504577
GRCh38:
Chr11:14483031
COPB1Baralle-Macken syndrome, Microcephaly, Cataract,
Intellectual disability, severe		Pathogenic/Likely pathogenic
(Apr 6, 2021)		no assertion criteria provided
73.
GRCh37:
Chr17:65908927
GRCh38:
Chr17:67912811
BPTFS1643R, S1769RMicrocephaly, Global developmental delayUncertain significance
(Jul 17, 2019)		criteria provided, single submitter
74.
GRCh37:
Chr3:183963598
GRCh38:
Chr3:184245810
ALG3T19P, T67PSeizure, Microcephaly, Intellectual disability
Uncertain significance
(Jun 11, 2019)		criteria provided, single submitter
75.
GRCh37:
Chr1:245809434
GRCh38:
Chr1:245646132
KIF26BR704CMicrocephalyUncertain significance
(Jun 11, 2019)		criteria provided, single submitter
76.
GRCh37:
Chr1:163306574
GRCh38:
Chr1:163336784
NUF2I124SShort stature, MicrocephalyPathogenic
(Dec 22, 2020)		criteria provided, single submitter
77.
GRCh37:
Chr9:133755890
GRCh38:
Chr9:130880503
ABL1V506A, V525ACongenital heart defects and skeletal malformations syndrome, MicrocephalyPathogenic/Likely pathogenic
(Jan 1, 2020)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr13:110825067
GRCh38:
Chr13:110172720
COL4A1G1186SBrain small vessel disease 1 with or without ocular anomalies, MicrocephalyLikely pathogenic
(May 20, 2020)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr6:87966803-87966806
GRCh38:
Chr6:87257085-87257088
ZNF292V1014fs, V1154fsShort stature, Microcephaly, Intellectual disability, mild
Likely pathogenic
(Nov 16, 2020)		criteria provided, single submitter
80.
GRCh37:
Chr1:229623339
GRCh38:
Chr1:229487592
NUP133Q406*Seizure, Microcephaly, Intellectual disability
Uncertain significance
(Dec 13, 2019)		no assertion criteria provided
81.
GRCh37:
Chr19:15376303-15376304
GRCh38:
Chr19:15265492-15265493
BRD4P237fsMicrocephaly, Intellectual disabilityLikely pathogenic
(Dec 13, 2019)		no assertion criteria provided
82.
GRCh37:
Chr21:46641999
GRCh38:
Chr21:45222084
ADARB1A665S, A705SMicrocephaly, Encephalopathy, Abnormal CNS myelination
Benigncriteria provided, single submitter
83.
GRCh37:
Chr12:12278317-12278318
GRCh38:
Chr12:12125383-12125384
LRP6S1455fsMicrocephaly, Short stature, Sparse scalp hair,
Generalized hypopigmentation, High myopia		Uncertain significance
(Dec 13, 2021)		criteria provided, single submitter
84.
GRCh37:
Chr7:95911538-97301820
DLX5, DLX6, SDHAF3, SEM1, SLC25A13Microcephaly, Intellectual disabilityLikely pathogenic
(Apr 8, 2020)		no assertion criteria provided
85.
GRCh37:
Chr6:101287058-117013245
NR2E1, NT5DC1, OSTM1, PRDM1, PREP, QRSL1, REV3L, RSPH4A, CCN6, CD164, CDC40, CDK19, AMD1, ARMC2, RTN4IP1, RWDD1, RFPL4B, RPF2, PDSS2, POPDC3, PPIL6, AFG1L, AK9, ASCC3, ATG5, BEND3, BVES, CALHM4, CALHM5, CALHM6, CEP57L1, COL10A1, CRYBG1, DDO, DSE, FAM229B, FIG4, FOXO3, FRK, FYN, GPR6, GRIK2, GTF3C6, HACE1, HDAC2, HS3ST5, KPNA5, LAMA4, LIN28B, MARCKS, METTL24, MFSD4B, MICAL1, MTRES1, SCML4, SEC63, SESN1, SLC16A10, SLC22A16, SMPD2, SNX3, SOBP, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TUBE1, WASF1, ZBTB24, ZUP1
Microcephaly, Intellectual disabilityPathogenic
(Apr 8, 2020)		no assertion criteria provided
86.
GRCh37:
Chr6:96015038-97262669
MANEA, UFL1, FHL5, FUT9, GPR63Microcephaly, Intellectual disabilityLikely pathogenic
(Apr 8, 2020)		no assertion criteria provided
87.
GRCh37:
Chr17:36243028-36593198
ARHGAP23, GPR179, MRPL45, SOCS7, TBC1D3, TBC1D3FMicrocephaly, Short statureUncertain significance
(Feb 14, 2020)		no assertion criteria provided
88.
GRCh37:
Chr4:186337011
GRCh38:
Chr4:185415857
CFAP96, UFSP2V115EAbnormality of the nervous system, Olivopontocerebellar hypoplasia, Focal-onset seizure,
Epileptic encephalopathy, Severe global developmental delay, Developmental and epileptic encephalopathy, 1,
UFSP2-related neurodevelopmental disorder, Developmental and epileptic encephalopathy 106, not provided
Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
89.
CAPN15imperforated anus, Horseshoe kidney, Microcephaly,
Congenital heart disease, Failure to thrive, Seziures,
Hearing loss, Sacral dysplasia, Congenital ocular coloboma,
Dysmorphism, bilateral optic disc gliosis ...see more		Likely pathogenic
(Jun 20, 2019)		criteria provided, single submitter
90.
GRCh37:
Chr22:22127164
GRCh38:
Chr22:21772875
MAPK1E322QShort stature, Atypical behavior, Microcephaly,
Abnormal facial shape, Specific learning disability, Intellectual disability,
not provided		Pathogenic
(May 2, 2023)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr22:22162017
GRCh38:
Chr22:21807728
MAPK1H80YShort stature, Atypical behavior, Microcephaly,
Abnormal facial shape, Specific learning disability, Intellectual disability
Pathogenic
(Apr 1, 2020)		criteria provided, single submitter
92.
GRCh37:
Chr22:22162034
GRCh38:
Chr22:21807745
MAPK1I74NShort stature, Atypical behavior, Microcephaly,
Abnormal facial shape, Specific learning disability, Intellectual disability
Pathogenic
(Apr 1, 2020)		criteria provided, single submitter
93.
GRCh37:
Chr6:33740481
GRCh38:
Chr6:33772704
LEMD2S177F, S346F, S479FSupernumerary tooth, Reduced bone mineral density, Deviated nasal septum,
Prominent superficial veins, Dental crowding, Thin skin,
Narrow mouth, Proptosis, Growth delay,
Microcephaly, Short claviclesTriangular face,
Lipoatrophy, Progeroid facial appearance, Multiple unerupted teeth,
Abnormal nasal dorsum morphology, Intention tremor, Short stature,
Micrognathia, ...see more		Likely pathogenic
(Mar 21, 2019)		criteria provided, single submitter
94.
GRCh37:
Chr12:13768481-13768488
GRCh38:
Chr12:13615547-13615554
GRIN2BL480fsHypotonia, Sleep disturbance, Atypical behavior,
Self-injurious behavior, Intellectual disability, autosomal dominant 6, Microcephaly,
Intellectual disability		Pathogenic
(Dec 12, 2019)		criteria provided, single submitter
95.
GRCh37:
Chr9:96160235-97428496
BARX1, FAM120A, FAM120AOS, FBP1, FBP2, MFSD14B, MIRLET7A1, MIRLET7D, MIRLET7F1, NUTM2F, PHF2, PTPDC1, ZNF169
Delayed gross motor development, Mild short stature, Expressive language delay,
Hiatus hernia, Delayed fine motor development, Microcephaly
Likely pathogenic
(May 4, 2020)		criteria provided, single submitter
96.
GRCh37:
Chr8:126369507
GRCh38:
Chr8:125357265
NSMCE2D155EDysmorphic features, Decreased response to growth hormone stimulation test, Short stature,
Global developmental delay, Microcephaly		Uncertain significancecriteria provided, single submitter
97.
GRCh37:
Chr3:7494299
GRCh38:
Chr3:7452612
GRM7E394KBilateral multifocal epileptiform discharges, Global developmental delay, Microcephaly
Pathogeniccriteria provided, single submitter
98.
GRCh37:
ChrX:41206242
GRCh38:
ChrX:41346989
DDX3XS583fs, S567fs, S397fsDelayed speech and language development, Global developmental delay, Microcephaly
Pathogenic
(Mar 3, 2020)		criteria provided, single submitter
99.
GRCh37:
Chr2:148710290-149021799
ORC4, MBD5MicrocephalyPathogenicno assertion criteria provided
100.
GRCh37:
ChrX:41150139-43976458
MAOB, DDX3X, NDP, GPR82, MAOA, NYX, CASK, GPR34MicrocephalyPathogenicno assertion criteria provided
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination