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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2, LOC123864065
Single nucleotide variant
(synonymous variant)
Merosin deficient congenital muscular dystrophy
+5 more
GBenign/Likely benign
LAMA2, LOC123864065
(Q2054R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
LAMA2, LOC123864065
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GBenign
LAMA2, LOC123864065
Single nucleotide variant
(intron variant)
Merosin deficient congenital muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
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