"Revvity Omics, Revvity"[submitter] AND "GFAP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16169	NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)	GFAP (R416W +1 more)	Single nucleotide variant (missense variant)	Alexander disease +2 more	GPathogenic
Select item 2432112	NM_002055.5(GFAP):c.719C>T (p.Thr240Met)	GFAP (T240M)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 16167	NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)	GFAP (R239C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2432111	NM_002055.5(GFAP):c.625C>G (p.Arg209Gly)	GFAP (R209G)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 2148298	NM_002055.5(GFAP):c.287C>T (p.Ala96Val)	GFAP (A96V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 16170	NM_002055.5(GFAP):c.236G>A (p.Arg79His)	GFAP (R79H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

ClinVar