"GFAP-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1568605	NM_002055.5(GFAP):c.1246C>A (p.Arg416=)	GFAP	Single nucleotide variant (synonymous variant)	GFAP-related disorder +1 more	GBenign/Likely benign
Select item 323609	NM_002055.5(GFAP):c.1236C>A (p.Thr412=)	GFAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3029885	NM_002055.5(GFAP):c.1171+461G>C	GFAP	Single nucleotide variant (synonymous variant +2 more)	GFAP-related disorder	GLikely benign
Select item 738597	NM_002055.5(GFAP):c.1171+421G>A	GFAP (R413Q)	Single nucleotide variant (missense variant +2 more)	GFAP-related disorder +1 more	GLikely benign
Select item 1644079	NM_002055.5(GFAP):c.1171+359C>G	GFAP	Single nucleotide variant (synonymous variant +2 more)	GFAP-related disorder +1 more	GLikely benign
Select item 3051628	NM_002055.5(GFAP):c.1171+149A>G	GFAP	Single nucleotide variant (3 prime UTR variant +1 more)	GFAP-related disorder	GLikely benign
Select item 1917982	NM_002055.5(GFAP):c.1171+20G>C	GFAP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2636929	NM_002055.5(GFAP):c.1078G>T (p.Asp360Tyr)	GFAP, LOC130060994 (D360Y)	Single nucleotide variant (missense variant)	GFAP-related disorder	GLikely pathogenic
Select item 1406033	NM_002055.5(GFAP):c.934G>A (p.Glu312Lys)	GFAP (E312K)	Single nucleotide variant (missense variant)	GFAP-related disorder +2 more	GUncertain significance
Select item 425136	NM_002055.5(GFAP):c.893C>T (p.Ser298Phe)	GFAP (S298F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2633794	NM_002055.5(GFAP):c.844G>A (p.Ala282Thr)	GFAP (A282T)	Single nucleotide variant (missense variant)	GFAP-related disorder	GUncertain significance
Select item 323615	NM_002055.5(GFAP):c.720G>T (p.Thr240=)	GFAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 758625	NM_002055.5(GFAP):c.495C>T (p.Ala165=)	GFAP	Single nucleotide variant (synonymous variant)	GFAP-related disorder +2 more	GLikely benign
Select item 1009079	NM_002055.5(GFAP):c.361C>T (p.Arg121Ter)	GFAP (R121*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1382349	NM_002055.5(GFAP):c.336G>A (p.Leu112=)	GFAP	Single nucleotide variant (synonymous variant)	GFAP-related disorder +1 more	GLikely benign
Select item 66481	NM_002055.5(GFAP):c.302T>C (p.Leu101Pro)	GFAP (L101P)	Single nucleotide variant (missense variant)	GFAP-related disorder	GUncertain significance
Select item 493216	NM_002055.5(GFAP):c.159C>T (p.Ser53=)	GFAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign