"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CDSN"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 788855	NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg)	CDSN, PSORS1C1 (S434R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 782002	NM_001264.5(CDSN):c.678C>T (p.Pro226=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068522	NM_001264.5(CDSN):c.575C>T (p.Pro192Leu)	CDSN, PSORS1C1 (P192L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1499054	NM_001264.5(CDSN):c.475A>G (p.Ser159Gly)	CDSN, PSORS1C1 (S159G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 711440	NM_001264.5(CDSN):c.256G>A (p.Gly86Ser)	CDSN, PSORS1C1 (G86S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 30269	NM_001264.5(CDSN):c.175A>T (p.Lys59Ter)	CDSN, PSORS1C1 (K59*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

ClinVar