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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
(H1337R)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
LAMA2
(A1938V)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
GUncertain significance