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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(L59fs)
Deletion
(frameshift variant +2 more)
Primary dilated cardiomyopathy
GPathogenic
LMNA, LOC126805877
(R166P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GPathogenic/Likely pathogenic
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal semi-dominant severe lipodystrophic laminopathy
+24 more
GConflicting classifications of pathogenicity
LMNA
(R571S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
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