"Ambry Genetics"[submitter] AND "PCP2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599863	NM_174895.3(PCP2):c.358G>A (p.Ala120Thr)	PCP2, PET100 +1 more (A104T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2508692	NM_174895.3(PCP2):c.280G>A (p.Val94Met)	PCP2, STXBP2 (V94M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255714	NM_174895.3(PCP2):c.235G>A (p.Asp79Asn)	PCP2, STXBP2 (D63N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520892	NM_174895.3(PCP2):c.184G>A (p.Glu62Lys)	PCP2, STXBP2 (E46K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618290	NM_174895.3(PCP2):c.171C>G (p.Ser57Arg)	PCP2, STXBP2 (S41R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374396	NM_174895.3(PCP2):c.140C>A (p.Ala47Asp)	PCP2, STXBP2 (A31D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590658	NM_174895.3(PCP2):c.46G>A (p.Ala16Thr)	PCP2, STXBP2 (A16T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2614692	NM_174895.3(PCP2):c.41C>G (p.Pro14Arg)	PCP2, STXBP2 (P14R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance