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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIP12
(T1985A +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(D1635E +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(Q1057* +8 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(E299A +2 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
+1 more
GUncertain significance
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