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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC126805877
(E161K +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GPathogenic/Likely pathogenic
LMNA
(E203K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LMNA
(R349W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+14 more
GConflicting classifications of pathogenicity
LMNA
(C410R +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+4 more
Gnot provided
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