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Links from Gene

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPKC, LOC130064485
(G51E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
(G25R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
Single nucleotide variant
(synonymous variant)
ITPKC-related disorder
GLikely benign
ITPKC, LOC130064485
(E54A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPKC, LOC130064485
(A48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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