ClinVar for MedGen (Select 336530) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446051	Single allele	C6orf15, CDSN +1 more	Deletion	Peeling skin syndrome 1	GPathogenic
Select item 2444035	NM_001264.5(CDSN):c.484C>T (p.Gln162Ter)	CDSN, PSORS1C1 (Q162*)	Single nucleotide variant (nonsense +1 more)	Peeling skin syndrome 1	GLikely pathogenic
Select item 1209846	NM_001264.5(CDSN):c.1579A>G (p.Asn527Asp)	CDSN, PSORS1C1 (N527D)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1 +1 more	GBenign
Select item 1184405	NM_001264.5(CDSN):c.239G>A (p.Ser80Asn)	CDSN, PSORS1C1 (S80N)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1	GUncertain significance
Select item 803071	NM_201631.4(TGM5):c.684+1G>A	TGM5	Single nucleotide variant (splice donor variant)	Peeling skin syndrome 1	GLikely pathogenic
Select item 802196	NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn)	CDSN, PSORS1C1 (S453N)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1 +1 more	GBenign
Select item 802195	NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser)	CDSN, PSORS1C1 (G487S)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1	GLikely pathogenic
Select item 716000	NM_001264.5(CDSN):c.1525C>T (p.Leu509=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	Peeling skin syndrome 1 +2 more	GBenign/Likely benign
Select item 316058	NM_201631.4(TGM5):c.753C>T (p.Asn251=)	TGM5	Single nucleotide variant (synonymous variant)	Peeling skin syndrome 1	GUncertain significance
Select item 157570	NM_201631.4(TGM5):c.640del (p.Leu214fs)	TGM5 (L132fs +1 more)	Deletion (frameshift variant)	Peeling skin syndrome 1	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 157564	NM_001264.5(CDSN):c.164_167dup (p.Thr57fs)	CDSN, PSORS1C1 (T57fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
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 30269	NM_001264.5(CDSN):c.175A>T (p.Lys59Ter)	CDSN, PSORS1C1 (K59*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic