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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(I26fs)
Duplication
(frameshift variant +2 more)
not provided
GLikely pathogenic
LMNA
(T54M)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+14 more
GUncertain significance
LMNA
(L61F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(L92F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
LMNA
(E105G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LMNA
(E115K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA
(K117R)
Single nucleotide variant
(missense variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(R156C +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
LMNA
(A175V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LMNA
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
LMNA
(E203K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LMNA
(R216H +2 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
LMNA
(R225* +2 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1A
+5 more
GPathogenic
LMNA
(V144M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LMNA
(S295L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
LMNA
(S326T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LMNA
(R331W +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
(R331Q +2 more)
Single nucleotide variant
(missense variant)
LMNA-related disorder
+7 more
GPathogenic/Likely pathogenic
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+20 more
GPathogenic/Likely pathogenic
LMNA
(R349W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+15 more
GConflicting classifications of pathogenicity
LMNA
(R349L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LMNA
(Q353* +2 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
LMNA
(A263S +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LMNA
(R401C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LMNA
(V415I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GConflicting classifications of pathogenicity
LMNA
(T424A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
LMNA
(S429N +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+14 more
GUncertain significance
LMNA
(V442M +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
+14 more
GConflicting classifications of pathogenicity
LMNA
(R471G +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+3 more
GConflicting classifications of pathogenicity
LMNA
(R482Q +2 more)
Single nucleotide variant
(missense variant)
Laminopathy
+15 more
GPathogenic
LMNA
(T496M +2 more)
Single nucleotide variant
(missense variant)
not provided
+18 more
GConflicting classifications of pathogenicity
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Lethal tight skin contracture syndrome
+23 more
GConflicting classifications of pathogenicity
LMNA
(S573L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LMNA
(R470C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LMNA
(V474M +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+15 more
GUncertain significance
LMNA
(R597C +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
LMNA
(G608R +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LMNA
(N630D +3 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
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