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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC126805877
(L25V +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
LMNA
(R482Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+17 more
GConflicting classifications of pathogenicity
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal semi-dominant severe lipodystrophic laminopathy
+24 more
GConflicting classifications of pathogenicity
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