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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARGE1
(V474I +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LARGE1
(S471R +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LARGE1
(E71K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
+4 more
GConflicting classifications of pathogenicity
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