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Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(M1fs)
Deletion
(frameshift variant +3 more)
not provided
GLikely pathogenic
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial partial lipodystrophy, Dunnigan type
+12 more
GUncertain significance
LMNA
(T3A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA, LOC129931597
(A9T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
LMNA, LOC129931597
(S22fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LMNA, LOC129931597
(R28Q)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+2 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
(E33D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA
(Q36P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(R41S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(I46V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA
(R50G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(R50L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA
(E73*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
LMNA
(V95del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LMNA
(A96S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+14 more
GUncertain significance
LMNA
(A100P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA
(L102P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LMNA
(E112del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(K117R)
Single nucleotide variant
(missense variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+14 more
GConflicting classifications of pathogenicity
LMNA
(A118G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA, LOC126805877
(A18D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LMNA, LOC126805877
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely pathogenic
LMNA
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
LMNA
(F107S +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA
(F206L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LMNA
(Y99C +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic/Likely pathogenic
LMNA
(R216H +2 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
LMNA
(T218P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA
(R140H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMNA
(R225Q +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LMNA
(C24R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(R249Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+8 more
GPathogenic/Likely pathogenic
LMNA
(H140Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LMNA
(L263M +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+14 more
GUncertain significance
LMNA
Duplication
(inframe_insertion)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA
(L271P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(N283S +2 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GUncertain significance
LMNA
(Q107P +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LMNA
(S295P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LMNA
(S295L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
LMNA
(R298C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
LMNA
(I299V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LMNA
(L201P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(A318T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LMNA
(R329S +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+12 more
GUncertain significance
LMNA
(R329H +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+15 more
GUncertain significance
LMNA
(S222N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+15 more
GUncertain significance
LMNA
(E139D +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(E358K +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy
+4 more
GPathogenic
LMNA
(I157M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(E260fs +2 more)
Duplication
(frameshift variant)
Primary dilated cardiomyopathy
+2 more
GPathogenic/Likely pathogenic
LMNA
(E372K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA
(R377C +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+7 more
GPathogenic/Likely pathogenic
LMNA
(R377H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GPathogenic
LMNA
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LMNA
(R399H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LMNA
(R401C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LMNA
(R401H +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+15 more
GUncertain significance
LMNA
(G411C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+16 more
GUncertain significance
LMNA
(G411D +2 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
LMNA
(G301C +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+13 more
GUncertain significance
LMNA
(L421P +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
(R427C +2 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GUncertain significance
LMNA
(R435H +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+3 more
GConflicting classifications of pathogenicity
LMNA
(T436A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+16 more
GUncertain significance
LMNA
(R439C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+7 more
GConflicting classifications of pathogenicity
LMNA
(V442M +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
+14 more
GConflicting classifications of pathogenicity
LMNA
(D446G +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(E336* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
LMNA
(R453W +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
LMNA
(N459S +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+14 more
GUncertain significance
LMNA
(M464V +2 more)
Single nucleotide variant
(missense variant)
not provided
+15 more
GConflicting classifications of pathogenicity
LMNA
(R471C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LMNA
(R471H +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
LMNA
Duplication
(inframe_insertion)
not provided
+4 more
GUncertain significance
LMNA
(L367fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
LMNA
(R482W +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy
+15 more
GPathogenic
LMNA
(P485A +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+14 more
GUncertain significance
LMNA
(V494L +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GUncertain significance
LMNA
(T496M +2 more)
Single nucleotide variant
(missense variant)
not provided
+18 more
GConflicting classifications of pathogenicity
LMNA
(N518D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LMNA
(T519I +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
LMNA
(W520S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA
(G523R +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
LMNA
(R527H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GPathogenic
LMNA
(T528K +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+3 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
LMNA
(I419fs +2 more)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
LMNA
(T422S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+15 more
GUncertain significance
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Lethal tight skin contracture syndrome
+23 more
GConflicting classifications of pathogenicity
LMNA
(D553N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
(D349Y +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LMNA
(R571C +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+14 more
GUncertain significance
LMNA
(S573L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LMNA
(A547T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
LMNA
(S553L +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+15 more
GConflicting classifications of pathogenicity
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