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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(A88G)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
LMNA
(R119G)
Indel
(missense variant)
Conduction system disorder
GLikely pathogenic
LMNA, LOC126805877
(K123del +2 more)
Microsatellite
(inframe_deletion)
Primary dilated cardiomyopathy
+2 more
GLikely pathogenic
LMNA, LOC126805877
(D126E +2 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
LMNA, LOC126805877
(T150A +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LMNA
(F206L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic
LMNA
(N128fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(R216C +2 more)
Single nucleotide variant
(missense variant)
Atrioventricular block
+6 more
GPathogenic/Likely pathogenic
LMNA
(R221C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMNA
(F237S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LMNA
(A242V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LMNA
(A287fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LMNA
(L306R +2 more)
Single nucleotide variant
(missense variant)
Right ventricular cardiomyopathy
+1 more
GPathogenic
LMNA
Single nucleotide variant
(intron variant)
not provided
+13 more
GConflicting classifications of pathogenicity
LMNA
(S326T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+20 more
GPathogenic/Likely pathogenic
LMNA
(L363fs +2 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GPathogenic
LMNA
(S395L +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+14 more
GUncertain significance
LMNA
(R397C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
LMNA
(R401C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LMNA
(L309fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LMNA
(S325fs +2 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
LMNA
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+14 more
GUncertain significance
LMNA
(R471H +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
LMNA
(R415fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LMNA
(R545C +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+9 more
GConflicting classifications of pathogenicity
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