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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2, LOC123864065
(Q2054R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LAMA2, LOC123864065
Single nucleotide variant
(intron variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+7 more
GConflicting classifications of pathogenicity