"3billion"[submitter] AND "GFAP"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66431	NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)	GFAP, LOC130060994 (D360V)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 16172	NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)	GFAP (R88C)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GPathogenic
Select item 190332	NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	GFAP (R66Q)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GConflicting classifications of pathogenicity

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