List of variants reported as uncertain significance by ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.726G>A (p.Ala242=)	rs148578399	0.00101
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)	rs139850074	0.00056
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)	rs144857480	0.00024
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)	rs141017311	0.00021
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)	rs143347747	0.00019
NM_000152.5(GAA):c.131G>T (p.Gly44Val)	rs550609502	0.00017
NM_000152.5(GAA):c.1888+5G>T	rs528282884	0.00014
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)	rs375433002	0.00012
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)	rs372786811	0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val)	rs376067362	0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)	rs144155165	0.00005
NM_000152.5(GAA):c.2510G>A (p.Arg837His)	rs746095374	0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	rs144731405	0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)	rs543360994	0.00004
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)	rs552929702	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)	rs372486238	0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663	0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	rs534192892	0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	rs1403885484	0.00001
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)	rs776008078
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)	rs1555600235
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)	rs1555600488
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)	rs2143866454
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)	rs2039193001
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup)	rs2039193694
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)	rs2039221468
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup)	rs1555601409
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)	rs1555601633
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)	rs398123172
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)	rs1555601773
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)	rs1057524664
NM_000152.5(GAA):c.2799+2C>A	rs1555603318
NM_000152.5(GAA):c.2799+2C>T	rs1555603318
NM_000152.5(GAA):c.2799+5G>A
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)	rs1555603436
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])	rs1555598846
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)	rs200524747
NM_000152.5(GAA):c.546+5G>A
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.688G>A (p.Val230Met)	rs145866792
NM_000152.5(GAA):c.710C>T (p.Ala237Val)	rs121907944
NM_000152.5(GAA):c.796C>A (p.Pro266Thr)	rs1555599667
NM_000152.5(GAA):c.93_95del (p.Leu32del)	rs1278892703

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