ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001123383.1(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001126049.1(KLLN):c.-736G>C rs1554889801
NM_001126049.1(KLLN):c.-792C>T rs587779982
NM_001126049.1(KLLN):c.-828C>T rs786203674
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001193375.2(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001356.4(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_004187.4(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544
NM_004493.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103
NM_004992.3(MECP2):c.1013C>G (p.Thr338Ser) rs786204313
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met)
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) rs764670975
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099
NM_015185.3(ARHGEF9):c.421A>G (p.Ser141Gly) rs1394345886
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu)
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
NM_198270.4(NHS):c.152C>T (p.Ala51Val) rs727504039
NM_198270.4(NHS):c.176_177delinsAA (p.Arg59Gln) rs797045739

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