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Links from MedGen

Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC126805877
(T157fs +3 more)
Indel
(frameshift variant +2 more)
Congenital muscular dystrophy due to LMNA mutation
GLikely pathogenic
LMNA, LOC129931597
(K32T)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy due to LMNA mutation
GPathogenic
LMNA
(N39K)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
LMNA, LOC129931597
(Q30P)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
LMNA, LOC129931597
(E31fs)
Deletion
(frameshift variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
LMNA, LOC129931597
(L35Q)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
LMNA
(L159R +5 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
LMNA
(G301S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+12 more
GUncertain significance
LMNA
(V49L)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
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
(Q36H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
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
(L38F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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
(Y45H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 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
(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
(E271K +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+2 more
GPathogenic/Likely pathogenic
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
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
(R108H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 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, LOC129931597
(T27I)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+1 more
GLikely pathogenic
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
(Q396L +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
LMNA
(R235S +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
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
LMNA
(M464K +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+1 more
GConflicting classifications of pathogenicity
LMNA
(L38H)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
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, LOC129931597
(P20L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(R552L +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 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
(V474M +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GUncertain significance
LMNA, LOC129931597
(K32E)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+1 more
GPathogenic/Likely pathogenic
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
(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
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