"PreventionGenetics, part of Exact Sciences"[submitter] AND "CDSN"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1551918	NM_001264.5(CDSN):c.1526T>C (p.Leu509Pro)	CDSN, PSORS1C1 (L509P)	Single nucleotide variant (missense variant +1 more)	CDSN-related condition +1 more	GLikely benign
Select item 391650	NM_001264.5(CDSN):c.1447G>A (p.Ala483Thr)	CDSN, PSORS1C1 (A483T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 724193	NM_001264.5(CDSN):c.1413C>T (p.Pro471=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	CDSN-related condition +1 more	GBenign/Likely benign
Select item 802196	NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn)	CDSN, PSORS1C1 (S453N)	Single nucleotide variant (missense variant +1 more)	CDSN-related condition +2 more	GBenign
Select item 1234343	NM_001264.5(CDSN):c.1226G>T (p.Gly409Val)	CDSN, PSORS1C1 (G409V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 747840	NM_001264.5(CDSN):c.1148G>A (p.Gly383Asp)	CDSN, PSORS1C1 (G383D)	Single nucleotide variant (missense variant +1 more)	CDSN-related condition +1 more	GBenign/Likely benign
Select item 2164867	NM_001264.5(CDSN):c.765G>A (p.Val255=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2051005	NM_001264.5(CDSN):c.669C>T (p.Pro223=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2632545	NM_001264.5(CDSN):c.583del (p.Ser195fs)	CDSN, PSORS1C1 (S195fs)	Deletion (frameshift variant +1 more)	CDSN-related condition	GLikely pathogenic
Select item 716865	NM_001264.5(CDSN):c.536A>G (p.Asn179Ser)	CDSN, PSORS1C1 (N179S)	Single nucleotide variant (missense variant +1 more)	CDSN-related condition +1 more	GLikely benign
Select item 2069965	NM_001264.5(CDSN):c.9G>A (p.Ser3=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	CDSN-related condition +1 more	GLikely benign