ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Mendelics

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
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_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
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_002764.4(PRPS1):c.359G>T (p.Gly120Val) rs1602901832
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) rs1603308066
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_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570

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