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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HUWE1
(D4260N)
Single nucleotide variant
(missense variant)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
GUncertain significance
HUWE1
(E3834V)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked syndromic, Turner type
GUncertain significance
HUWE1
(L1070del)
Microsatellite
(inframe_deletion)
Intellectual disability, X-linked syndromic, Turner type
GUncertain significance
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