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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDI1
(E363fs)
Insertion
(frameshift variant)
Intellectual disability, X-linked 41
GPathogenic
GDI1
(R173W)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 41
GUncertain significance
GDI1
(R173Q)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 41
GUncertain significance
GDI1
(S354fs)
Deletion
(frameshift variant)
Intellectual disability, X-linked 41
GPathogenic
GDI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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