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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
(L202P)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
GUncertain significance
FKRP
(P213L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+20 more
GPathogenic/Likely pathogenic
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