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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSC
Indel
(nonsense)
Papillon-Lefèvre syndrome
GPathogenic
STS
(W91* +1 more)
Single nucleotide variant
(nonsense)
X-linked ichthyosis with steryl-sulfatase deficiency
GPathogenic