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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIL1
(R92W)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
THOC2
Single nucleotide variant
(synonymous variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GBenign/Likely benign
THOC2
(A421T)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GBenign/Likely benign
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