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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188954	NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	HEXA (R510* +1 more)	Single nucleotide variant (nonsense)	Tay-Sachs disease +1 more	GPathogenic
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 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 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease +2 more	GPathogenic/Likely pathogenic
Select item 3238759	NM_000520.6(HEXA):c.1002del (p.Ile335fs)	HEXA (I335fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 209160	NM_000520.6(HEXA):c.806-7G>A	HEXA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 189126	NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	HEXA (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic

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