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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THOC2
(R1409H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(V1379F)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(T1013I)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(Y106C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(R77C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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