ClinVar for MedGen (Select 865425) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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