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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLTC
(P890L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CLTC, LOC125177523
+3 more
Deletion
Intellectual disability, autosomal dominant 56
GLikely pathogenic