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Links from Gene

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHNAK, LOC126861227
Microsatellite
AHNAK-related disorder
GBenign
AHNAK, LOC126861227
(N40D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHNAK, LOC126861227
(G47R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHNAK
Duplication
Megacolon
GLikely pathogenic
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