"Ambry Genetics"[submitter] AND "GPBAR1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473513	NM_170699.3(GPBAR1):c.128G>A (p.Arg43His)	GPBAR1 (R43H)	Single nucleotide variant (missense variant)	GPBAR1-related condition +1 more	GUncertain significance
Select item 501614	NM_170699.3(GPBAR1):c.262G>A (p.Val88Ile)	GPBAR1 (V88I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2526540	NM_170699.3(GPBAR1):c.322G>C (p.Gly108Arg)	GPBAR1 (G108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 501141	NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)	GPBAR1 (M112V)	Single nucleotide variant (missense variant)	GPBAR1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2337980	NM_170699.3(GPBAR1):c.338C>T (p.Ala113Val)	GPBAR1 (A113V)	Single nucleotide variant (missense variant)	GPBAR1-related condition +1 more	GUncertain significance
Select item 2275010	NM_170699.3(GPBAR1):c.562G>C (p.Val188Leu)	GPBAR1 (V188L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594764	NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)	GPBAR1 (V188M)	Single nucleotide variant (missense variant)	GPBAR1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 594771	NM_170699.3(GPBAR1):c.637G>A (p.Ala213Thr)	GPBAR1 (A213T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595885	NM_170699.3(GPBAR1):c.718T>G (p.Tyr240Asp)	GPBAR1 (Y240D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2371722	NM_170699.3(GPBAR1):c.985T>A (p.Leu329Met)	GPBAR1 (L329M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance