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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GUncertain significance
LAMA2
(R683fs)
Microsatellite
(frameshift variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LAMA2
(Q1666*)
Single nucleotide variant
(nonsense)
LAMA2-related muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
LAMA2
(R2200H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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