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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C6orf15, CDSN
+1 more
Deletion
Peeling skin syndrome 1
GPathogenic
CDSN, PSORS1C1
(Q162*)
Single nucleotide variant
(nonsense +1 more)
Peeling skin syndrome 1
GLikely pathogenic
CDSN, PSORS1C1
(N527D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
CDSN, PSORS1C1
(S80N)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
GUncertain significance
TGM5
Single nucleotide variant
(splice donor variant)
Peeling skin syndrome 1
GLikely pathogenic
CDSN, PSORS1C1
(S453N)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
+2 more
GBenign
CDSN, PSORS1C1
(G487S)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
GLikely pathogenic
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
TGM5
Single nucleotide variant
(synonymous variant)
Peeling skin syndrome 1
GUncertain significance
TGM5
(L132fs +1 more)
Deletion
(frameshift variant)
Peeling skin syndrome 1
GPathogenic
CDSN, PSORS1C1
(G142*)
Single nucleotide variant
(nonsense +1 more)
Peeling skin syndrome 1
GPathogenic
CDSN, PSORS1C1
(T57fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(G249fs)
Deletion
(frameshift variant +1 more)
Peeling skin syndrome 1
GPathogenic
CDSN, PSORS1C1
(K59*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
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