ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
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.788G>A (p.Arg263His) rs145670503
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_000314.7(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.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000377.2(WAS):c.1208C>T (p.Pro403Leu) rs782666797
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.7432C>G (p.Pro2478Ala) rs199543136
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794
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.1049C>G (p.Thr350Ser) rs786204313
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001126049.2(KLLN):c.-1039G>A rs587779999
NM_001126049.2(KLLN):c.-736G>C rs1554889801
NM_001126049.2(KLLN):c.-792C>T rs587779982
NM_001126049.2(KLLN):c.-828C>T rs786203674
NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) rs777303823
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039
NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn) rs1556225792
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
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) rs763219658
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103
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.6097A>G (p.Met2033Val) rs372606012
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) rs782587560
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768
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_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu) rs748573163
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_198270.4(NHS):c.176_177delinsAA (p.Arg59Gln) rs797045739

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