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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THOC2
(R998H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(A912P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GUncertain significance
THOC2
(N805S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(Q65H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
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