"Ambry Genetics"[submitter] AND "CDSN"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265618	NM_001264.5(CDSN):c.1522C>A (p.Pro508Thr)	CDSN, PSORS1C1 (P508T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2067270	NM_001264.5(CDSN):c.1516G>A (p.Val506Met)	CDSN, PSORS1C1 (V506M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2392544	NM_001264.5(CDSN):c.1441G>A (p.Ala481Thr)	CDSN, PSORS1C1 (A481T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463530	NM_001264.5(CDSN):c.1412C>T (p.Pro471Leu)	CDSN, PSORS1C1 (P471L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1027849	NM_001264.5(CDSN):c.1340C>T (p.Pro447Leu)	CDSN, PSORS1C1 (P447L)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 2 +2 more	GUncertain significance
Select item 2491422	NM_001264.5(CDSN):c.1320T>A (p.Ser440Arg)	CDSN, PSORS1C1 (S440R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515821	NM_001264.5(CDSN):c.1310C>T (p.Ser437Phe)	CDSN, PSORS1C1 (S437F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296289	NM_001264.5(CDSN):c.1286G>T (p.Gly429Val)	CDSN, PSORS1C1 (G429V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141737	NM_001264.5(CDSN):c.1094C>T (p.Ser365Leu)	CDSN, PSORS1C1 (S365L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141739	NM_001264.5(CDSN):c.937T>A (p.Tyr313Asn)	CDSN, PSORS1C1 (Y313N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1049878	NM_001264.5(CDSN):c.870C>A (p.Asp290Glu)	CDSN, PSORS1C1 (D290E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592714	NM_001264.5(CDSN):c.821G>A (p.Ser274Asn)	CDSN, PSORS1C1 (S274N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318508	NM_001264.5(CDSN):c.787G>C (p.Gly263Arg)	CDSN, PSORS1C1 (G263R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265619	NM_001264.5(CDSN):c.746G>A (p.Gly249Asp)	CDSN, PSORS1C1 (G249D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141738	NM_001264.5(CDSN):c.709G>A (p.Gly237Ser)	CDSN, PSORS1C1 (G237S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360434	NM_001264.5(CDSN):c.676C>T (p.Pro226Ser)	CDSN, PSORS1C1 (P226S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460548	NM_001264.5(CDSN):c.643C>A (p.Gln215Lys)	CDSN, PSORS1C1 (Q215K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265620	NM_001264.5(CDSN):c.635G>A (p.Ser212Asn)	CDSN, PSORS1C1 (S212N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2300993	NM_001264.5(CDSN):c.550C>T (p.Arg184Cys)	CDSN, PSORS1C1 (R184C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1499054	NM_001264.5(CDSN):c.475A>G (p.Ser159Gly)	CDSN, PSORS1C1 (S159G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2366114	NM_001264.5(CDSN):c.449G>A (p.Ser150Asn)	CDSN, PSORS1C1 (S150N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1049998	NM_001264.5(CDSN):c.275C>T (p.Ser92Phe)	CDSN, PSORS1C1 (S92F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218841	NM_001264.5(CDSN):c.25A>T (p.Met9Leu)	CDSN, PSORS1C1 (M9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 23