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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LMNA
(R298C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LMNA
(M464K +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+1 more
GConflicting classifications of pathogenicity
LMNA
(T528K +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 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
(R470C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
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