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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARGE1
(Q314L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+2 more
GUncertain significance
LARGE1
(E74A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
GUncertain significance