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Links from MedGen

Items: 1 to 100 of 337

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC126805877
(Q168* +3 more)
Single nucleotide variant
(nonsense +2 more)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(Q139fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1A
GPathogenic
FLNC
(L1280fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1A
GPathogenic
LMNA
(E55D)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(D149A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(T100A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K16965fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
TTN, TTN-AS1
(R11418H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(T340fs +5 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1A
GPathogenic
LMNA, LOC126805877
(L134P +3 more)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(E116del +5 more)
Microsatellite
(inframe_deletion)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(D4fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(E105V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
TTN-AS1, TTN
(A14063fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(G301S +5 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GUncertain significance
LMNA
Insertion
(nonsense +2 more)
Dilated cardiomyopathy 1A
GLikely pathogenic
TTN, TTN-AS1
(Q26453* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1A
GLikely pathogenic
UNC45B
(L486F)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
GLikely pathogenic
RAPGEF5
(H396Y +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
NFATC2
(S698A +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1A
GLikely pathogenic
SYNE1
(I815T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
SEMA3E
(E565K +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+1 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(D118G +2 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
LMNA
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(E82Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+12 more
GConflicting classifications of pathogenicity
LMNA
(A80P)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+1 more
GUncertain significance
LMNA
(R119L)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+11 more
GUncertain significance
LMNA
(R275fs +2 more)
Deletion
(frameshift variant)
Restrictive dermopathy 2
+11 more
GPathogenic/Likely pathogenic
LMNA
(Q212L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+11 more
GUncertain significance
LMNA, LOC129931597
(A16D)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+12 more
GUncertain significance
LMNA
(V437fs +2 more)
Microsatellite
(frameshift variant +1 more)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+11 more
GLikely pathogenic
LMNA
(N56K)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+6 more
GLikely pathogenic
LMNA
(A202T +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+13 more
GUncertain significance
LMNA, LOC126805877
(E124K +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LMNA
(S459N +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+2 more
GUncertain significance
LMNA, LOC129931597
(T24I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+13 more
GUncertain significance
LMNA
(T422S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+15 more
GUncertain significance
LMNA, LOC126805877
(R156H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+16 more
GUncertain significance
LMNA
(R219L +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
LMNA
(S545R +3 more)
Single nucleotide variant
(missense variant)
Heart-hand syndrome, Slovenian type
+12 more
GUncertain significance
LMNA
(I216N +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1A
+1 more
GConflicting classifications of pathogenicity
LMNA
(I63L)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+13 more
GConflicting classifications of pathogenicity
LMNA
(Y45H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+2 more
GConflicting classifications of pathogenicity
LMNA
(D440A +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2B1
+11 more
GUncertain significance
TAFAZZIN
(D175E +4 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
+1 more
GUncertain significance
EMD
(L7F)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
NEXN
(N154D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
NEXN
(P294L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+4 more
GUncertain significance
NEXN
(I501M +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
MYPN
(G368D +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
DMD
(I2160V +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E22366* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+3 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(K12899* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1A
GPathogenic
TTN, TTN-AS1
(Y13876* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1A
GPathogenic
DSP
(D1518fs +2 more)
Microsatellite
(frameshift variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
DSP
(S2018N +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
ACTN2
(E155K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
GUncertain significance
ACTC1, GJD2-DT
(M285K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+3 more
GUncertain significance
ACTC1, GJD2-DT
(G152D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
BAG3
(S190fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1A
GLikely pathogenic
MYPN
(P532T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
GUncertain significance
TTN, TTN-AS1
(T14749fs +5 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1A
GPathogenic
DSG2, DSG2-AS1
(P923R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
DSC2
(E427D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+1 more
GUncertain significance
LMNA
(E65Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(G300W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+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
(T112I +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA
(S316G +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+11 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(D448N +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(G301C +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+13 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+11 more
GLikely benign
LMNA
(R343H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GUncertain significance
LMNA
(S429N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+14 more
GUncertain significance
LMNA
(E98G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+13 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1A
+13 more
GLikely benign
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+14 more
GLikely benign
LMNA
(R255W +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+14 more
GConflicting classifications of pathogenicity
LMNA
(T3N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+3 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LMNA
(S326L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GUncertain significance
LMNA, LOC126805877
(K171E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+13 more
GUncertain significance
LMNA
Duplication
(intron variant)
Charcot-Marie-Tooth disease type 2
+13 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(intron variant)
not specified
+14 more
GBenign/Likely benign
LMNA
(Y99C +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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)
Lethal tight skin contracture syndrome
+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)
not provided
+13 more
GUncertain significance
LOC110121269, SCN5A
(S940N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+2 more
GUncertain significance
LMNA
(N150S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+15 more
GUncertain significance
LMNA
(V109E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+11 more
GUncertain significance
TNNI3
(R27C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
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