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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIP12
(P1744fs +11 more)
Indel
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(Q296* +2 more)
Single nucleotide variant
(nonsense +1 more)
Clark-Baraitser syndrome
GPathogenic