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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKTN
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FKTN
(C105F +1 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy caused by variation in FKTN
+2 more
GConflicting classifications of pathogenicity
FKTN
(F258fs +2 more)
Duplication
(frameshift variant +1 more)
Walker-Warburg congenital muscular dystrophy
+8 more
GPathogenic
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