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Links from MedGen

Items: 1 to 100 of 201

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(L354P +5 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
GUncertain significance
LMNA
(G301S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+12 more
GUncertain significance
LMNA
(Y247fs +2 more)
Duplication
(frameshift variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
GLikely pathogenic
LMNA
Single nucleotide variant
(splice acceptor variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
GPathogenic
LMNA
(Q405fs +2 more)
Microsatellite
(frameshift variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
GPathogenic
LMNA
(D118G +2 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
LMNA
(E82Q)
Single nucleotide variant
(missense variant)
Restrictive dermopathy 2
+11 more
GConflicting classifications of pathogenicity
LMNA
(R119L)
Single nucleotide variant
(missense variant)
Restrictive dermopathy 2
+11 more
GUncertain significance
LMNA
(R275fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+11 more
GPathogenic/Likely pathogenic
LMNA
(Q212L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+11 more
GUncertain significance
LMNA, LOC129931597
(A16D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+11 more
GUncertain significance
LMNA
(V437fs +2 more)
Microsatellite
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 2B1
+11 more
GLikely pathogenic
LMNA
(N56K)
Single nucleotide variant
(missense variant)
Heart-hand syndrome, Slovenian type
+6 more
GLikely pathogenic
LMNA
(A202T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+12 more
GUncertain significance
LMNA, LOC129931597
(T24I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GUncertain significance
LMNA
(T422S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GUncertain significance
LMNA, LOC126805877
(R156H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+15 more
GUncertain significance
LMNA
(S545R +3 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+11 more
GUncertain significance
LMNA
(I63L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+13 more
GConflicting classifications of pathogenicity
LMNA
(D440A +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+11 more
GUncertain significance
LMNA
(E235G +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+1 more
GUncertain significance
LMNA
(G300W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance
LMNA
(S317R +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+11 more
GUncertain significance
LMNA
(S316G +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+11 more
GUncertain significance
LMNA
(G301C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+13 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+11 more
GLikely benign
LMNA
(R343H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+13 more
GUncertain significance
LMNA
(S429N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+12 more
GUncertain significance
TMEM43
(P234S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
LMNA
(E98G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Cardiomyopathy
+13 more
GLikely benign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+13 more
GLikely benign
LMNA
(R255W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+13 more
GConflicting classifications of pathogenicity
LMNA
(S326L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+14 more
GUncertain significance
LMNA, LOC126805877
(K171E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance
LMNA
Duplication
(intron variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+13 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+14 more
GBenign/Likely benign
LMNA
(D334E +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(3 prime UTR variant +1 more)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial partial lipodystrophy, Dunnigan type
+10 more
GConflicting classifications of pathogenicity
LMNA
(T154A +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
(R491H +1 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+11 more
GUncertain significance
LMNA
(T91I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance
LMNA, LOC126805877
(L25V +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
LMNA
(N150S +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+14 more
GUncertain significance
LMNA
(V109E)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+11 more
GUncertain significance
LMNA
(A353T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+11 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+11 more
GLikely benign
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+12 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+13 more
GConflicting classifications of pathogenicity
LMNA
(C410R +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+4 more
Gnot provided
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+12 more
GLikely benign
LMNA
(R231W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+19 more
GConflicting classifications of pathogenicity
LMNA
(R184C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+12 more
GUncertain significance
LMNA
(G601S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hutchinson-Gilford syndrome
+12 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 2
+12 more
GLikely benign
LMNA
(R471P +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
GUncertain significance
LMNA
(Q396L +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
LMNA
(A318V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance/Uncertain risk allele
LMNA, LOC129931597
(S22L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+13 more
GConflicting classifications of pathogenicity
LMNA
(K90E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance
LMNA
(R298L +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+11 more
GUncertain significance
LMNA
(D254E +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+11 more
GUncertain significance
LMNA, LOC126805877
(R166W +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+13 more
GConflicting classifications of pathogenicity
LMNA
(R453Q +2 more)
Single nucleotide variant
(missense variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+12 more
GConflicting classifications of pathogenicity
LMNA
(T591M +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+15 more
GConflicting classifications of pathogenicity
LOC129931597, LMNA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+13 more
GLikely benign
LMNA
(A96S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+13 more
GUncertain significance
LMNA
(R552L +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GConflicting classifications of pathogenicity
LMNA
(L102P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LMNA
(N283S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+15 more
GUncertain significance
LMNA
(L204V +2 more)
Single nucleotide variant
(missense variant)
Restrictive dermopathy 2
+14 more
GUncertain significance
LMNA
(S282N +2 more)
Single nucleotide variant
(missense variant)
Restrictive dermopathy 2
+11 more
GUncertain significance
LMNA
(V442M +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+13 more
GConflicting classifications of pathogenicity
LMNA
(S513P +2 more)
Indel
(missense variant +1 more)
Restrictive dermopathy 2
+13 more
GUncertain significance
LMNA
(L263M +2 more)
Single nucleotide variant
(missense variant)
Restrictive dermopathy 2
+14 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+15 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+15 more
GLikely benign
LMNA
Single nucleotide variant
(intron variant)
Cardiomyopathy
+14 more
GUncertain significance
LMNA
(V285L +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
+12 more
GConflicting classifications of pathogenicity
LMNA
(Q462P +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
GLikely pathogenic
LMNA
(V474M +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GUncertain significance
LMNA
(R584C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
+11 more
GUncertain significance
LMNA
(R419H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+13 more
GUncertain significance
LMNA
(D254N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+13 more
GUncertain significance
LMNA
(E385del +2 more)
Microsatellite
(inframe_deletion)
Muscular dystrophy
GLikely pathogenic
LMNA
(M464V +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GConflicting classifications of pathogenicity
LMNA
(K97T)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+15 more
GConflicting classifications of pathogenicity
LMNA
(R189Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+13 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
+14 more
GLikely benign
LMNA
Single nucleotide variant
(intron variant)
not specified
+14 more
GLikely benign
LMNA
Single nucleotide variant
(intron variant)
not specified
+14 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+16 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
not specified
+15 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy due to LMNA mutation
+10 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+15 more
GConflicting classifications of pathogenicity
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