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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
(R683fs)
Microsatellite
(frameshift variant)
LAMA2-related muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
LAMA2
(C1011*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(R2383*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
LAMA2
(R2578* +1 more)
Single nucleotide variant
(nonsense)
LAMA2-related disorder
+6 more
GPathogenic
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