ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Mendelics

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NG_042874.1(ACD)::g.5474del rs753666055
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) rs1603387278
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) rs1603391127
NM_000054.6(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000132.3(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.3(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.3(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) rs1602303865
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A rs1602363550
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) rs1064795106
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) rs1556135308
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr) rs1602402258
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup) rs1602411514
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) rs1602412679
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) rs1556200989
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) rs1057517981
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) rs1602442819
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) rs1602442871
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) rs137853269
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.436+5G>T rs1602273945
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000489.5(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.5(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001042537.1(SLC9A6):c.847_849CTT[1] (p.Leu284del) rs1603201557
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001291867.2(NHS):c.719-1G>A rs1601838818
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu) rs1602625000
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val) rs1602901832
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) rs1603308066
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) rs1557107942
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) rs1603290291
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_003688.3(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_003688.3(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) rs1602996815
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_005120.3(MED12):c.224G>C (p.Ser75Thr) rs867655376
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn) rs1344933833
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131
NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe) rs1602352162

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