"Ambry Genetics"[submitter] AND "PRPF4"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2238813	NM_001244926.2(PRPF4):c.70G>T (p.Val24Leu)	PRPF4 (V24L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2289006	NM_001244926.2(PRPF4):c.208G>A (p.Glu70Lys)	PRPF4 (E70K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296187	NM_001244926.2(PRPF4):c.797A>G (p.His266Arg)	PRPF4 (H266R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400487	NM_001244926.2(PRPF4):c.821A>G (p.Asn274Ser)	PRPF4 (N275S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307285	NM_001244926.2(PRPF4):c.1102T>C (p.Tyr368His)	PRPF4 (Y368H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950812	NM_001244926.2(PRPF4):c.1321G>A (p.Val441Ile)	PRPF4 (V199I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2463926	NM_001244926.2(PRPF4):c.1498T>G (p.Ser500Ala)	PRPF4 (S500A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 940726	NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)	PRPF4 (D260N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity