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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSC, LOC130006572
(W39S)
Single nucleotide variant
(missense variant)
Papillon-Lefèvre syndrome
+2 more
GLikely pathogenic
CTSC, LOC130006572
(Y32*)
Single nucleotide variant
(nonsense)
Papillon-Lefèvre syndrome
+2 more
GPathogenic