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Items: 1 to 100 of 388

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+12 more
GUncertain significance
LMNA
(T3N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+16 more
GBenign/Likely benign
LMNA, LOC129931597
(R7Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
LMNA, LOC129931597
(R8H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA, LOC129931597
(A9T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant +2 more)
Cardiomyopathy
+2 more
GLikely benign
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+20 more
GBenign/Likely benign
LMNA, LOC129931597
(T24S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LOC129931597, LMNA
Single nucleotide variant
(synonymous variant +2 more)
Cardiomyopathy
GLikely benign
LMNA, LOC129931597
(R25L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(I26L)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+14 more
GLikely benign
LMNA
(E37K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
(D47E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+16 more
GLikely benign
LMNA
(T54M)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+14 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LMNA
(E68K)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
LMNA
(V69A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant +2 more)
Primary dilated cardiomyopathy
+2 more
GLikely benign
LMNA
(R72H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA
(G76S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+2 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
LMNA
(A96S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+14 more
GUncertain significance
LMNA
(K97T)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+16 more
GConflicting classifications of pathogenicity
LMNA
(E98G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+13 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LMNA
(R101H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LMNA
(R110S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
LMNA
(R110H)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
(E112K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant +2 more)
Cardiomyopathy
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LMNA
(K117R)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GConflicting classifications of pathogenicity
LMNA
(R119C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA, LOC126805877
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
LMNA, LOC126805877
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GLikely benign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Hutchinson-Gilford syndrome
+17 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(K10E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+14 more
GLikely benign
LMNA, LOC126805877
(G125S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(I128V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA, LOC126805877
(I128T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA, LOC126805877
(A129D +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
LOC126805877, LMNA
(R133Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
LMNA, LOC126805877
(A39T +3 more)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
GUncertain significance
LMNA, LOC126805877
(R156H +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+16 more
GUncertain significance
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+3 more
GLikely benign
LMNA, LOC126805877
(H82R +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA, LOC126805877
(H163Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA, LOC126805877
(R166W +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(R166Q +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+16 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(Q56R +3 more)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
GUncertain significance
LMNA, LOC126805877
(K171E +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+13 more
GUncertain significance
LMNA, LOC126805877
Deletion
(intron variant)
Cardiomyopathy
GLikely benign
LMNA
Duplication
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA
(A174E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
(A179D +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LMNA
(D73V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA
(R189W +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+15 more
GUncertain significance
LMNA
(R189Q +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+15 more
GUncertain significance
LMNA
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
LMNA
(L204V +2 more)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+17 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LMNA
(R216H +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+16 more
GConflicting classifications of pathogenicity
LMNA
(R220C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
LMNA
(R108H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LMNA
(R225Q +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+3 more
GLikely benign
LMNA
(I229T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LMNA
(N150S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+15 more
GUncertain significance
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