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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDST, FLG
(R501*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+5 more
GPathogenic/Likely pathogenic
CCDST, FLG
(N186fs)
Duplication
(frameshift variant)
not provided
GPathogenic