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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
(L621fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic
LAMA2
(R683fs)
Microsatellite
(frameshift variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LAMA2
(C967*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
LAMA2
Deletion
(splice acceptor variant +1 more)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
(H2627Q +1 more)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
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