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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
(E1727Q)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+5 more
GUncertain significance
LAMA2
(R1844S)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+5 more
GConflicting classifications of pathogenicity