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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B1
+20 more
GBenign/Likely benign
LMNA
(Q103R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA
(K33R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to LMNA mutation
+17 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1A
+14 more
GConflicting classifications of pathogenicity
LMNA
(R190W +2 more)
Single nucleotide variant
(missense variant)
LMNA-related disorder
+4 more
GPathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to LMNA mutation
+17 more
GBenign/Likely benign
LMNA
(R221C +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
LMNA
(R249Q +2 more)
Single nucleotide variant
(missense variant)
Abnormality of the musculature
+8 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B1
+20 more
GBenign
LMNA
Single nucleotide variant
(synonymous variant)
Hutchinson-Gilford syndrome
+16 more
GBenign
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LMNA
(S295L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LMNA
(R298C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
(E317K +2 more)
Single nucleotide variant
(missense variant)
LMNA-related disorder
+8 more
GPathogenic/Likely pathogenic
LMNA
(R331Q +2 more)
Single nucleotide variant
(missense variant)
LMNA-related disorder
+7 more
GConflicting classifications of pathogenicity
LMNA
(S222N +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+15 more
GUncertain significance
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+20 more
GPathogenic/Likely pathogenic
LMNA
(R335Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LMNA
(R377L +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GBenign/Likely benign
LMNA
(R397C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+14 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to LMNA mutation
+16 more
GBenign
LMNA
(T496M +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+18 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+14 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+14 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1A
+17 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+16 more
GConflicting classifications of pathogenicity
LMNA
(G523R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+17 more
GBenign/Likely benign
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal semi-dominant severe lipodystrophic laminopathy
+24 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Hutchinson-Gilford syndrome
+16 more
GBenign
LMNA
(R571H +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+6 more
GConflicting classifications of pathogenicity
LMNA
(S573L +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+3 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
LMNA
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(G572S +2 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+6 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
LMNA
(R597C +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
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