"Ambry Genetics"[submitter] AND "GFAP"[gene] - ClinVar

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Items: 23

	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)	Inborn genetic diseases +2 more	GPathogenic
Select item 985000	NM_002055.5(GFAP):c.1220A>C (p.Asn407Thr)	GFAP (N407T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227898	NM_002055.5(GFAP):c.1171G>A (p.Glu391Lys)	GFAP (E391K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2482868	NM_002055.5(GFAP):c.1135A>G (p.Ile379Val)	GFAP (I379V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985664	NM_002055.5(GFAP):c.1005del (p.Gln336fs)	GFAP (Q336fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 425136	NM_002055.5(GFAP):c.893C>T (p.Ser298Phe)	GFAP (S298F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1303423	NM_002055.5(GFAP):c.737C>T (p.Ala246Val)	GFAP (A246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 804868	NM_002055.5(GFAP):c.676G>A (p.Val226Met)	GFAP (V226M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2510730	NM_002055.5(GFAP):c.643C>G (p.Leu215Val)	GFAP (L215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303335	NM_002055.5(GFAP):c.599T>C (p.Leu200Ser)	GFAP (L200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2511738	NM_002055.5(GFAP):c.575C>T (p.Ser192Leu)	GFAP (S192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2386391	NM_002055.5(GFAP):c.406C>T (p.Arg136Trp)	GFAP (R136W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069632	NM_002055.5(GFAP):c.388C>G (p.Leu130Val)	GFAP (L130V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2267184	NM_002055.5(GFAP):c.325C>A (p.Pro109Thr)	GFAP (P109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 225045	NM_002055.5(GFAP):c.235del (p.Arg79fs)	GFAP (R79fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 66457	NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)	GFAP (P47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1673480	NM_002055.5(GFAP):c.130C>G (p.Pro44Ala)	GFAP (P44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1485530	NM_002055.5(GFAP):c.77C>T (p.Ala26Val)	GFAP (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 323628	NM_002055.5(GFAP):c.43G>A (p.Val15Ile)	GFAP (V15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2345628	NM_002055.5(GFAP):c.34C>T (p.Arg12Cys)	GFAP (R12C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2496557	NM_002055.5(GFAP):c.31C>G (p.Arg11Gly)	GFAP (R11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402507	NM_002055.5(GFAP):c.13C>T (p.Arg5Cys)	GFAP (R5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 23