4367[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1267493	NC_000005.10:g.151252773C>T	GM2A	Single nucleotide variant	not provided	GBenign
Select item 904951	NM_000405.4(GM2A):c.-104T>C	GM2A, LOC129995043	Single nucleotide variant	Tay-Sachs disease, variant AB	GUncertain significance
Select item 352249	NM_000405.4(GM2A):c.-102A>G	GM2A, LOC129995043	Single nucleotide variant	Tay-Sachs disease, variant AB +1 more	GBenign
Select item 904952	NM_000405.4(GM2A):c.-83C>G	GM2A, LOC129995043	Single nucleotide variant	Tay-Sachs disease, variant AB	GUncertain significance
Select item 352250	NM_000405.4(GM2A):c.-44G>A	GM2A	Single nucleotide variant	Tay-Sachs disease, variant AB	GBenign
Select item 529236	NC_000005.10:g.(?_151253197)_(151267660_?)del	GM2A, LOC129995044	Deletion	Tay-Sachs disease, variant AB	GPathogenic
Select item 352251	NM_000405.5(GM2A):c.-7C>G	GM2A	Single nucleotide variant (5 prime UTR 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 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 836689	NM_000405.5(GM2A):c.11T>A (p.Leu4Gln)	GM2A (L4Q)	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 904953	NM_000405.5(GM2A):c.13A>T (p.Met5Leu)	GM2A (M5L)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GUncertain significance
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 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 723305	NM_000405.5(GM2A):c.33C>T (p.Ile11=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GBenign/Likely benign
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 904954	NM_000405.5(GM2A):c.37C>T (p.Leu13=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GUncertain significance
Select item 653201	NM_000405.5(GM2A):c.39G>A (p.Leu13=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB	GLikely benign
Select item 256030	NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)	GM2A (A19T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 2333442	NM_000405.5(GM2A):c.59C>T (p.Pro20Leu)	GM2A (P20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352252	NM_000405.5(GM2A):c.78A>T (p.Lys26Asn)	GM2A (K26N)	Single nucleotide variant (missense 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 1228124	NM_000405.5(GM2A):c.81+250C>A	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 1263090	NM_000405.5(GM2A):c.82-92T>A	GM2A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2771446	NM_000405.5(GM2A):c.82-17T>C	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	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 1645550	NM_000405.5(GM2A):c.82-8G>C	GM2A	Single nucleotide variant (intron variant)	Tay-Sachs disease, variant AB	GLikely benign
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 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 3100452	NM_000405.5(GM2A):c.90G>T (p.Gln30His)	GM2A (Q30H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3281694	NM_000405.5(GM2A):c.110A>G (p.Asp37Gly)	GM2A (D37G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352253	NM_000405.5(GM2A):c.126G>A (p.Gly42=)	GM2A	Single nucleotide variant (synonymous variant)	Tay-Sachs disease, variant AB +1 more	GBenign/Likely benign
Select item 737423	NM_000405.5(GM2A):c.129G>A (p.Lys43=)	GM2A	Single nucleotide variant (synonymous variant)	not provided	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 745715	NM_000405.5(GM2A):c.138G>A (p.Ala46=)	GM2A	Single nucleotide variant (synonymous variant)	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 394	NM_000405.5(GM2A):c.160G>T (p.Glu54Ter)	GM2A (E54*)	Single nucleotide variant (nonsense)	Tay-Sachs disease, variant AB	GPathogenic
Select item 183275	NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)	GM2A (P55L)	Single nucleotide variant (missense variant)	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 2530862	NM_000405.5(GM2A):c.173T>C (p.Ile58Thr)	GM2A (I58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 167150	NM_000405.5(GM2A):c.175A>G (p.Ile59Val)	GM2A (I59V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 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 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 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 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 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 2029789	NM_000405.5(GM2A):c.204_205inv (p.Met69Val)	GM2A (M69V)	Inversion (missense variant)	Tay-Sachs disease, variant AB	GLikely benign
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 167151	NM_000405.5(GM2A):c.205A>G (p.Met69Val)	GM2A (M69V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 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 1699419	NM_000405.5(GM2A):c.209del (p.Gly70fs)	GM2A (G70fs)	Deletion (frameshift variant)	Tay-Sachs disease, variant AB	GPathogenic
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 2695256	NM_000405.5(GM2A):c.243+9G>A	GM2A	Single nucleotide variant (intron 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 1262392	NM_000405.5(GM2A):c.243+144C>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
Select item 2197864	NM_000405.5(GM2A):c.244-6dup	GM2A	Duplication (intron variant)	Tay-Sachs disease, variant AB	GBenign
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 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 375272	NM_000405.5(GM2A):c.244-2A>T	GM2A	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease, variant AB	GLikely pathogenic
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 352254	NM_000405.5(GM2A):c.254T>G (p.Val85Gly)	GM2A (V85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 976256	NM_000405.5(GM2A):c.262_264del (p.Lys88del)	GM2A (K88del)	Deletion (inframe_deletion)	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 1040377	NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)	GM2A (L93F)	Indel (missense variant)	Tay-Sachs disease, variant AB	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 1686742	NM_000405.5(GM2A):c.296G>A (p.Cys99Tyr)	GM2A (C99Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029825	NM_000405.5(GM2A):c.308T>C (p.Ile103Thr)	GM2A (I103T)	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 100728	NM_000405.5(GM2A):c.333del (p.Cys112fs)	GM2A (C112fs)	Deletion (frameshift variant)	Tay-Sachs disease, variant AB	GPathogenic
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 1178787	NM_000405.5(GM2A):c.346G>C (p.Asp116His)	GM2A (D116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1305434	NM_000405.5(GM2A):c.367del (p.Glu123fs)	GM2A (E123fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 623364	NM_000405.5(GM2A):c.379G>A (p.Glu127Lys)	GM2A (E127K)	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 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 2521380	NM_000405.5(GM2A):c.389G>A (p.Arg130His)	GM2A (R130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3362568	NM_000405.5(GM2A):c.400_405del (p.Leu134_Pro135del)	GM2A	Deletion	Tay-Sachs disease, variant AB	GUncertain significance
Select item 393	NM_000405.5(GM2A):c.410del (p.His137fs)	GM2A (H137fs)	Deletion (frameshift variant)	Tay-Sachs disease, variant AB	GPathogenic
Select item 390	NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)	GM2A (C138R)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GPathogenic
Select item 624073	NM_000405.5(GM2A):c.413G>A (p.Cys138Tyr)	GM2A (C138Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 1283878	NM_000405.5(GM2A):c.426+173T>C	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

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