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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
(A455V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GLikely pathogenic
FKRP
(A455D)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GPathogenic