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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDSN, PSORS1C1
(G487S)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
GLikely pathogenic
CDSN, PSORS1C1
(S453N)
Single nucleotide variant
(missense variant +1 more)
CDSN-related condition
+2 more
GBenign
TGM5
Single nucleotide variant
(splice donor variant)
Peeling skin syndrome 1
GLikely pathogenic
TGM5
(L132fs +1 more)
Deletion
(frameshift variant)
Peeling skin syndrome 1
GPathogenic
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