ClinVar for MedGen (Select 541260) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3895	NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	HEXA (R504H +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease +1 more	GPathogenic/Likely pathogenic