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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAT3, SCAMP4
(V144M +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
+1 more
GPathogenic/Likely pathogenic
ADAT3, SCAMP4
(R147Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADAT3, SCAMP4
(P276S +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
GUncertain significance
ADAT3, SCAMP4
(H300P +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
GUncertain significance
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