"Ambry Genetics"[submitter] AND "HEXA"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1775212	NM_000520.6(HEXA):c.1559G>A (p.Gly520Asp)	HEXA (G531D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3899	NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	HEXA (R499H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 3915	NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)	HEXA (R499C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2139666	NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)	HEXA (A496G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1773339	NM_000520.6(HEXA):c.1470A>G (p.Thr490=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3892	NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	HEXA (E482K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 555026	NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)	HEXA (R472S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +2 more	GUncertain significance
Select item 1771642	NM_000520.6(HEXA):c.1396A>G (p.Asn466Asp)	HEXA (N477D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 555154	NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	HEXA (D465N +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +3 more	GConflicting classifications of pathogenicity
Select item 695932	NM_000520.6(HEXA):c.1338T>C (p.Pro446=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1592351	NM_000520.6(HEXA):c.1317C>G (p.Pro439=)	HEXA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 100729	NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	HEXA	Single nucleotide variant (synonymous variant)	Leukodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2555959	NM_000520.6(HEXA):c.1297G>A (p.Asp433Asn)	HEXA (D433N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 2045830	NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)	HEXA (A418G +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +1 more	GUncertain significance
Select item 317042	NM_000520.6(HEXA):c.1216C>T (p.Leu406=)	HEXA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2168897	NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)	HEXA (I389T +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +1 more	GUncertain significance
Select item 1982939	NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)	HEXA (I400V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 317043	NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease +2 more	GConflicting classifications of pathogenicity
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
Select item 1766458	NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)	HEXA (S321F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 188812	NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	HEXA (F305del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1604299	NM_000520.6(HEXA):c.912C>T (p.Phe304=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 699587	NM_000520.6(HEXA):c.906C>T (p.Ser302=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1895823	NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)	HEXA (E299A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1763988	NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)	HEXA (F287L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1154238	NM_000520.6(HEXA):c.840G>A (p.Gly280=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 811723	NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)	HEXA (S279C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
Select item 256352	NM_000520.6(HEXA):c.759G>A (p.Val253=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 446383	NM_000520.6(HEXA):c.598G>A (p.Val200Met)	HEXA (V200M +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 458318	NM_000520.6(HEXA):c.581C>T (p.Ala194Val)	HEXA (A194V +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	HEXA-related condition +4 more	GPathogenic/Likely pathogenic
Select item 700042	NM_000520.6(HEXA):c.517C>T (p.Leu173=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3925	NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	HEXA (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2071028	NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)	HEXA (R166C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1744382	NM_000520.6(HEXA):c.495C>T (p.Pro165=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1742636	NM_000520.6(HEXA):c.471C>A (p.Asn157Lys)	HEXA (N157K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233474	NM_000520.6(HEXA):c.458C>A (p.Thr153Lys)	HEXA (T153K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1559305	NM_000520.6(HEXA):c.357C>T (p.Thr119=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 556323	NM_000520.6(HEXA):c.346+1G>T	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 652196	NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)	HEXA (N115K +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 1112813	NM_000520.6(HEXA):c.261G>A (p.Arg87=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +1 more	GLikely benign
Select item 1040974	NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)	HEXA (G76A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2291570	NM_000520.6(HEXA):c.214C>T (p.Leu72Phe)	HEXA (L72F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1135720	NM_000520.6(HEXA):c.168C>T (p.Pro56=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +1 more	GLikely benign
Select item 2246005	NM_000520.6(HEXA):c.115C>T (p.Leu39Phe)	HEXA (L39F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803555	NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)	HEXA (Q35P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1759204	NM_000520.6(HEXA):c.74C>T (p.Pro25Leu)	HEXA (P25L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 695235	NM_000520.6(HEXA):c.69C>G (p.Leu23=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +1 more	GBenign/Likely benign
Select item 1957551	NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)	HEXA (R5G)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance

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Items: 51