ClinVar Miner

List of variants reported as likely pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

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ClinVar version:
Total variants: 162
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu)
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000834.5(GRIN2B):c.2236T>A (p.Cys746Ser)
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly) rs1553130904
NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro) rs1602540295
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys) rs1569523565
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly)
NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)
NM_001037343.1(CDKL5):c.2810G>A (p.Cys937Tyr) rs1569231336
NM_001037343.1:c.100-?_744+?dup
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.164A>C (p.Asp55Ala) rs1574525321
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)
NM_001080517.3(SETD5):c.3631G>A (p.Asp1211Asn)
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
NM_001101.5(ACTB):c.325C>T (p.Pro109Ser)
NM_001111125.3(IQSEC2):c.738-1G>A
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)
NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001160133.1(KCNQ5):c.1039G>A (p.Gly347Ser) rs1554210415
NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser)
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
NM_001165963.4(SCN1A):c.4064T>G (p.Leu1355Arg)
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile)
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)
NM_001197104.1(KMT2A):c.3740_3741del (p.Ser1247fs) rs1565286640
NM_001242896.3(DEPDC5):c.2107_2515+2dup
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001284214.2(TRIP12):c.5720C>T (p.Pro1907Leu)
NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) rs1569542167
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001375524.1(TRRAP):c.3103C>G (p.Arg1035Gly)
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys)
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys)
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)
NM_001958.4(EEF1A2):c.821C>T (p.Pro274Leu)
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys)
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
NM_003042.4(SLC6A1):c.715-1G>C
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
NM_003482.3(KMT2D):c.1769dup (p.Met590fs) rs1565819425
NM_003482.3(KMT2D):c.4262G>A (p.Gly1421Asp) rs1565807707
NM_003688.3(CASK):c.359A>G (p.His120Arg) rs1602550687
NM_003718.5(CDK13):c.2140G>T (p.Gly714Cys)
NM_003718.5(CDK13):c.2510A>G (p.Asp837Gly)
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004980.4(KCND3):c.1076G>T (p.Trp359Leu) rs1571939623
NM_005097.4(LGI1):c.215+2T>A
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_005445.3(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) rs1580358677
NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro)
NM_005862.3(STAG1):c.1102G>A (p.Glu368Lys)
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp)
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser) rs1554263624
NM_006914.4(RORB):c.926G>A (p.Arg309His)
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007325.5(GRIA3):c.1961C>T (p.Ala654Val)
NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His)
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
NM_012414.4(RAB3GAP2):c.3385G>A (p.Asp1129Asn)
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013436.5(NCKAP1):c.778A>T (p.Lys260Ter)
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
NM_014927.5(CNKSR2):c.228+1G>A
NM_015047.3(EMC1):c.1134C>A (p.Tyr378Ter) rs778470143
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys) rs1580966945
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)
NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_017934.7(PHIP):c.562T>C (p.Cys188Arg)
NM_020732.3(ARID1B):c.5026-2A>C rs1562350940
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
NM_022455.4(NSD1):c.4378+1G>A rs587784115
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_024757.5(EHMT1):c.1249-2A>G
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)
NM_031844.3(HNRNPU):c.2425-2A>T
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)
NM_032682.5(FOXP1):c.1147-2A>G rs1559621862
NM_032682.5(FOXP1):c.1429-13_1429-3del rs1559617016
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_152296.5(ATP1A3):c.1090T>C (p.Cys364Arg)
NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)
NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)

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