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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAT3, SCAMP4
(E2D +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
GUncertain significance
ADAT3, SCAMP4
(A20V +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
+1 more
GUncertain significance
ADAT3, SCAMP4
(A97G +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
GUncertain significance
ADAT3, SCAMP4
(V144M +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
+1 more
GPathogenic/Likely pathogenic
ADAT3, SCAMP4
(G235S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ADAT3, SCAMP4
(D299E +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
GUncertain significance
ADAT3, SCAMP4
(G318V +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-strabismus syndrome
GUncertain significance
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