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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+20 more
GPathogenic/Likely pathogenic
FKRP
(V300A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+7 more
GPathogenic/Likely pathogenic