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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GMPPB
(R287Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+6 more
GPathogenic/Likely pathogenic
GMPPB
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic