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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GUncertain significance
LAMA2
(R2200H)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+4 more
GConflicting classifications of pathogenicity