"OMIM"[submitter] AND "PSORS1C1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157563	NM_001264.5(CDSN):c.746del (p.Gly249fs)	CDSN, PSORS1C1 (G249fs)	Deletion (frameshift variant +1 more)	Peeling skin syndrome 1	GPathogenic
Select item 6997	NM_001264.5(CDSN):c.643C>T (p.Gln215Ter)	CDSN, PSORS1C1 (Q215*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 2	GPathogenic
Select item 6998	NM_001264.5(CDSN):c.598C>T (p.Gln200Ter)	CDSN, PSORS1C1 (Q200*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 2	GPathogenic
Select item 157565	NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)	CDSN, PSORS1C1 (G142*)	Single nucleotide variant (nonsense +1 more)	Peeling skin syndrome 1	GPathogenic
Select item 30269	NM_001264.5(CDSN):c.175A>T (p.Lys59Ter)	CDSN, PSORS1C1 (K59*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 157564	NM_001264.5(CDSN):c.164_167dup (p.Thr57fs)	CDSN, PSORS1C1 (T57fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance

ClinVar