"Ambry Genetics"[submitter] AND "CPNE4"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2239444	NM_130808.3(CPNE4):c.1670C>T (p.Pro557Leu)	CPNE4 (P557L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261076	NM_130808.3(CPNE4):c.1610G>A (p.Gly537Asp)	CPNE4 (G537D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207260	NM_130808.3(CPNE4):c.1565G>A (p.Ser522Asn)	CPNE4 (S522N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620013	NM_130808.3(CPNE4):c.1486G>C (p.Glu496Gln)	CPNE4 (E383Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268528	NM_130808.3(CPNE4):c.1408G>A (p.Val470Met)	CPNE4 (V488M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543389	NM_130808.3(CPNE4):c.1258G>A (p.Val420Ile)	CPNE4 (V307I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322678	NM_130808.3(CPNE4):c.628T>C (p.Phe210Leu)	CPNE4 (F210L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603004	NM_130808.3(CPNE4):c.485A>G (p.Asn162Ser)	CPNE4 (N49S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410801	NM_130808.3(CPNE4):c.458A>G (p.Asn153Ser)	CPNE4 (N153S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320285	NM_130808.3(CPNE4):c.325G>A (p.Asp109Asn)	CPNE4 (D109N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233192	NM_130808.3(CPNE4):c.305A>G (p.His102Arg)	CPNE4 (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313536	NM_130808.3(CPNE4):c.275G>A (p.Arg92Gln)	CPNE4 (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411853	NM_130808.3(CPNE4):c.31G>A (p.Ala11Thr)	CPNE4 (A11T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance