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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPB41L1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 11
GUncertain significance
EPB41L1
(S541T +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 11
GUncertain significance
EPB41L1
(S631I +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 11
GUncertain significance
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