List of variants reported as pathogenic for Gaucher disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 58

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	rs1064651	0.00020
NM_000157.4(GBA1):c.222_224del (p.Thr75del)	rs761621516	0.00016
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	rs364897	0.00011
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	rs80356771	0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	rs75822236	0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs)	rs387906315	0.00006
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	rs78973108	0.00004
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)	rs439898	0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	rs61748906	0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	rs381418	0.00003
NM_000157.4(GBA1):c.762-1G>C	rs1237637353	0.00003
NM_000157.4(GBA1):c.689T>G (p.Val230Gly)	rs381427	0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	rs409652	0.00002
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	rs76539814	0.00001
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)	rs760307559	0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	rs121908311	0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	rs80356769	0.00001
NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)	rs1553217009	0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	rs80356772	0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	rs747506979	0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	rs1141814	0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	rs79653797	0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	rs749714463	0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	rs1009850780	0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	rs398123532	0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	rs1064644	0.00001
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)	rs773409311	0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	rs381737	0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	rs74500255	0.00001
NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer)	rs1553217314
NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)	rs777383151
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	rs121908309
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	rs398123528
NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter)	rs1671711470
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	rs80356768
NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)	rs1557901325
NM_000157.4(GBA1):c.1439_1445del (p.Lys480fs)	rs2148070579
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	rs421016
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)	rs1671655923
NM_000157.4(GBA1):c.203del (p.Pro68fs)	rs1170895261
NM_000157.4(GBA1):c.203dup (p.Thr69fs)	rs1170895261
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)	rs77829017
NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)	rs1671987417
NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)	rs1671974195
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	rs121908312
NM_000157.4(GBA1):c.485T>C (p.Met162Thr)	rs794727783
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)	rs398123530
NM_000157.4(GBA1):c.630del (p.Val211fs)	rs1553217879
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	rs867929413
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)	rs1553217626
NM_000157.4(GBA1):c.898del (p.Ala300fs)	rs2148075419
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)	rs765633380

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