ClinVar for Gene (Select 2760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362568	NM_000405.5(GM2A):c.400_405del (p.Leu134_Pro135del)	GM2A	Deletion	Tay-Sachs disease, variant AB	GUncertain significance
Select item 3340369	NM_000405.5(GM2A):c.259G>T (p.Glu87Ter)	GM2A (E87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3281694	NM_000405.5(GM2A):c.110A>G (p.Asp37Gly)	GM2A (D37G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246326	NC_000005.9:g.(?_150632778)_(151304110_?)dup	ATOX1, FAT2 +7 more	Duplication	Hereditary hyperekplexia	GUncertain significance
Select item 3100452	NM_000405.5(GM2A):c.90G>T (p.Gln30His)	GM2A (Q30H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100451	NM_000405.5(GM2A):c.206T>C (p.Met69Thr)	GM2A (M69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3013311	NM_000405.5(GM2A):c.579A>C (p.Ile193=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 3003896	NM_000405.5(GM2A):c.429A>T (p.Gly143=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2999927	NM_000405.5(GM2A):c.426+11A>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2981004	NM_000405.5(GM2A):c.82-18C>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2962630	NM_000405.5(GM2A):c.492C>G (p.Thr164=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2959547	NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)	GM2A (A187T)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2899956	NM_000405.5(GM2A):c.427-4G>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2882274	NM_000405.5(GM2A):c.427-12G>A	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2817168	NM_000405.5(GM2A):c.57C>G (p.Ala19=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2771446	NM_000405.5(GM2A):c.82-17T>C	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2766144	NM_000405.5(GM2A):c.524G>A (p.Ser175Asn)	GM2A (S175N)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2751731	NM_000405.5(GM2A):c.207G>C (p.Met69Ile)	GM2A (M69I)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2703521	NM_000405.5(GM2A):c.427-6C>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2695256	NM_000405.5(GM2A):c.243+9G>A	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2664353	NM_000405.5(GM2A):c.427-14T>A	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely pathogenic
Select item 2655945	NM_000405.5(GM2A):c.261G>A (p.Glu87=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB +1 more	GLikely benign
Select item 2584380	NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)	GM2A (G122R)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GLikely pathogenic
Select item 2561453	NM_000405.5(GM2A):c.14T>C (p.Met5Thr)	GM2A (M5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530862	NM_000405.5(GM2A):c.173T>C (p.Ile58Thr)	GM2A (I58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521380	NM_000405.5(GM2A):c.389G>A (p.Arg130His)	GM2A (R130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2423037	NC_000005.9:g.(?_150632778)_(150646494_?)dup	GM2A	Duplication	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2423036	NC_000005.9:g.(?_150632778)_(150727021_?)dup	GM2A, SLC36A2 +1 more	Duplication	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2393080	NM_000405.5(GM2A):c.565T>C (p.Ser189Pro)	GM2A (S189P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333442	NM_000405.5(GM2A):c.59C>T (p.Pro20Leu)	GM2A (P20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305033	NM_000405.5(GM2A):c.503A>G (p.Tyr168Cys)	GM2A (Y168C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201263	NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)	GM2A (M69A)	Indel (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2197864	NM_000405.5(GM2A):c.244-6dup	GM2A	Duplication (intron variant)	Tay-Sachs disease, variant AB	GBenign
Select item 2188813	NM_000405.5(GM2A):c.579A>G (p.Ile193Met)	GM2A (I193M)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2179283	NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)	GM2A (G192S)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2174602	NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)	GM2A (Y132F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2170689	NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)	GM2A (Q2R)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2166331	NM_000405.5(GM2A):c.381G>A (p.Glu127=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2161294	NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)	GM2A (R169C)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2161013	NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)	GM2A (P61R)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2159623	NM_000405.5(GM2A):c.342G>C (p.Val114=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2155569	NM_000405.5(GM2A):c.558C>T (p.Ile186=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2149810	NM_000405.5(GM2A):c.570A>G (p.Leu190=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2149426	NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)	GM2A (S33N)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2147502	NM_000405.5(GM2A):c.427-7C>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2134801	NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)	GM2A (S150N)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2134123	NM_000405.5(GM2A):c.512A>T (p.Glu171Val)	GM2A (E171V)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2132691	NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)	GM2A (G62R)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2115899	NM_000405.5(GM2A):c.467A>T (p.Asp156Val)	GM2A (D156V)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2089550	NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)	GM2A (I58F)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2089095	NM_000405.5(GM2A):c.315C>T (p.Ser105=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2072336	NM_000405.5(GM2A):c.81+4A>G	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2070832	NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)	GM2A (R180P)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2040106	NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)	GM2A (K149Q)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 2037423	NM_000405.5(GM2A):c.36C>T (p.Ala12=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2033461	NM_000405.5(GM2A):c.243+10G>A	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2029789	NM_000405.5(GM2A):c.204_205inv (p.Met69Val)	GM2A (M69V)	Inversion (missense variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 2003793	NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)	GM2A (E171Q)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1993722	NM_000405.5(GM2A):c.84A>G (p.Pro28=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1985506	NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)	GM2A (A46E)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1983204	NM_000405.5(GM2A):c.13A>C (p.Met5Leu)	GM2A (M5L)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1982445	NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)	GM2A (R180C)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1975486	NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)	GM2A (G143E)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1968113	NM_000405.5(GM2A):c.203T>C (p.Val68Ala)	GM2A (V68A)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1942317	NM_000405.5(GM2A):c.244-15A>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1922999	NM_000405.5(GM2A):c.244-6del	GM2A	Deletion (intron variant)	Tay-Sachs disease, variant AB	GBenign
Select item 1904672	NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)	GM2A (R169S)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1699419	NM_000405.5(GM2A):c.209del (p.Gly70fs)	GM2A (G70fs)	Deletion (frameshift variant)	Tay-Sachs disease, variant AB	GPathogenic
Select item 1686742	NM_000405.5(GM2A):c.296G>A (p.Cys99Tyr)	GM2A (C99Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649650	NM_000405.5(GM2A):c.24C>T (p.Pro8=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1645550	NM_000405.5(GM2A):c.82-8G>C	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1622874	NM_000405.5(GM2A):c.195C>T (p.Thr65=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1616605	NM_000405.5(GM2A):c.244-13T>G	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1613912	NM_000405.5(GM2A):c.244-6T>C	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1584036	NM_000405.5(GM2A):c.177C>T (p.Ile59=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB +1 more	GLikely benign
Select item 1578160	NM_000405.5(GM2A):c.82-15C>T	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1540710	NM_000405.5(GM2A):c.516C>T (p.Ser172=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1535849	NM_000405.5(GM2A):c.450C>T (p.Ser150=)	GM2A	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease, variant AB	GLikely benign
Select item 1511063	NM_000405.5(GM2A):c.139G>A (p.Val47Met)	GM2A (V47M)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1492776	NM_000405.5(GM2A):c.178G>C (p.Val60Leu)	GM2A (V60L)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1428207	NM_000405.5(GM2A):c.178G>A (p.Val60Ile)	GM2A (V60I)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1420229	NM_000405.5(GM2A):c.244G>C (p.Val82Leu)	GM2A (V82L)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1397542	NM_000405.5(GM2A):c.496G>A (p.Gly166Arg)	GM2A (G166R)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1388998	NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)	GM2A (S29P)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1376354	NM_000405.5(GM2A):c.538C>A (p.Arg180Ser)	GM2A (R180S)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB +1 more	GUncertain significance
Select item 1367470	NM_000405.5(GM2A):c.388C>T (p.Arg130Cys)	GM2A (R130C)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1362753	NM_000405.5(GM2A):c.207G>A (p.Met69Ile)	GM2A (M69I)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1350409	NM_000405.5(GM2A):c.506G>A (p.Arg169His)	GM2A (R169H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1349635	NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg)	GM2A (L93R)	Indel (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 1324484	NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)	GM2A (Q2*)	Single nucleotide variant (nonsense)	Tay-Sachs disease, variant AB	GLikely pathogenic
Select item 1305434	NM_000405.5(GM2A):c.367del (p.Glu123fs)	GM2A (E123fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1283878	NM_000405.5(GM2A):c.426+173T>C	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267493	NC_000005.10:g.151252773C>T	GM2A	Single nucleotide variant	not provided	GBenign
Select item 1263090	NM_000405.5(GM2A):c.82-92T>A	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262392	NM_000405.5(GM2A):c.243+144C>G	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255267	NM_000405.5(GM2A):c.427-121C>T	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243174	NM_000405.5(GM2A):c.82-154C>G	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235161	NM_000405.5(GM2A):c.243+301G>A	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign

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