"Eurofins Ntd Llc (ga)"[submitter] AND "HEXA"[gene] - ClinVar

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Items: 25

	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)	not provided +2 more	GBenign
Select item 3899	NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	HEXA (R499H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +2 more	GPathogenic
Select item 287080	NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	HEXA (A479T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 93190	NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)	HEXA (N466S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GConflicting classifications of pathogenicity
Select item 93189	NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)	HEXA (I436V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Tay-Sachs disease +3 more	GPathogenic
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 256349	NM_000520.6(HEXA):c.1074-43C>G	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 256353	NM_000520.6(HEXA):c.806-48G>T	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 256352	NM_000520.6(HEXA):c.759G>A (p.Val253=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 126510	NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)	HEXA (R249W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 3922	NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)	HEXA (R247W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign; other
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 197682	NM_000520.6(HEXA):c.536A>G (p.His179Arg)	HEXA (H179R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +3 more	GPathogenic/Likely pathogenic
Select item 93192	NM_000520.6(HEXA):c.497G>A (p.Arg166His)	HEXA (R166H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3904	NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	HEXA (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 195081	NM_000520.6(HEXA):c.298G>T (p.Val100Phe)	HEXA (V100F +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
Select item 288069	NM_000520.6(HEXA):c.38C>T (p.Ala13Val)	HEXA (A13V)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GUncertain significance
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 189126	NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	HEXA (M1T)	Single nucleotide variant (missense variant +2 more)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic
Select item 496858	NM_000520.6(HEXA):c.1A>T (p.Met1Leu)	HEXA (M1L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic

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Items: 25