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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(Q6*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
LMNA
(E203K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LMNA
(H222Y +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
GPathogenic
LMNA
(R225* +2 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+5 more
GPathogenic
LMNA
(R225Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
LMNA
(R240fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
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