"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194339	NM_000520.6(HEXA):c.1527-6T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +2 more	GConflicting classifications of pathogenicity
Select item 93191	NM_000520.6(HEXA):c.1518A>G (p.Glu506=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease +2 more	GBenign
Select item 3906	NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	HEXA (R504C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 317041	NM_000520.6(HEXA):c.1421+14G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 3890	NM_000520.6(HEXA):c.1421+1G>C	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +1 more	GPathogenic
Select item 618678	NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg)	HEXA (P446R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2921079	NM_000520.6(HEXA):c.1330+20C>T	HEXA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 93189	NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)	HEXA (I436V +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +2 more	GBenign
Select item 841751	NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)	HEXA (L422V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 93188	NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)	HEXA (N399D +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +2 more	GBenign/Likely benign
Select item 554870	NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)	HEXA (R393Q +1 more)	Single nucleotide variant (missense variant)	Tay-Sachs disease +1 more	GUncertain significance
Select item 551737	NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)	HEXA (Q390* +1 more)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 553551	NM_000520.6(HEXA):c.1146+18A>G	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317043	NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	HEXA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 209160	NM_000520.6(HEXA):c.806-7G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 3924	NM_000520.6(HEXA):c.772G>C (p.Asp258His)	HEXA (D258H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 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 provided +3 more	GBenign/Likely benign
Select item 1426855	NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)	HEXA (R249Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 256351	NM_000520.6(HEXA):c.672+30T>G	HEXA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 697552	NM_000520.6(HEXA):c.582G>A (p.Ala194=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 93192	NM_000520.6(HEXA):c.497G>A (p.Arg166His)	HEXA (R166H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 439785	NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)	HEXA (R87W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 811826	NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)	HEXA (L11P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 93193	NM_000520.6(HEXA):c.9C>T (p.Ser3=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 438810	NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	HEXA (S3T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 26