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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ5-DT, LOC129996711
+1 more
(W17R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 46
GUncertain significance
KCNQ5
(E174D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 46
GUncertain significance
KCNQ5
(L817F +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 46
+1 more
GConflicting classifications of pathogenicity
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