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Links from MedGen

Items: 1 to 100 of 302

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCN4
(E580D)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GPathogenic
RAF1
(T155I +3 more)
Single nucleotide variant
(missense variant +1 more)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
PRDM16
(Q543*)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction cardiomyopathy
GPathogenic
MYH7
(Y350N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
HCN4
(A485V)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
+2 more
GPathogenic/Likely pathogenic
HCN4
(G482E)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
PKP2
(V357fs)
Duplication
(frameshift variant)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
NEXN
(D563fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNNC1
(T71M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ALPK3
(M867K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
HCN4
(G480S)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
+1 more
GPathogenic/Likely pathogenic
PKP2
Deletion
(inframe_deletion)
Left ventricular noncompaction cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TBX5
(S36fs)
Duplication
(frameshift variant +1 more)
Left ventricular noncompaction cardiomyopathy
+1 more
GPathogenic
TPM1
(A86V +2 more)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LDB3
(A260T +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+1 more
GUncertain significance
MYH7
(A428D)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
TAFAZZIN
(V119M +1 more)
Single nucleotide variant
(missense variant +1 more)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
CBL
(M269V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
DNASE1L1, LOC130068869
+1 more
(P10R)
Single nucleotide variant
(missense variant +2 more)
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
DSG2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
PRDM16
(D370E)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GUncertain significance
MYH7
(D159N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+1 more
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Left ventricular noncompaction cardiomyopathy
+2 more
GUncertain significance
MYH7
(I1912N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(R192*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1AA
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q21986* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely pathogenic
MYLK2
(G142V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TMEM43
(R393W)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TTN, TTN-AS1
(R34121* +5 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GLikely pathogenic
MYBPC3
(S858R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
MYH7
(G181R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(R19950* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GLikely pathogenic
DTNA
Single nucleotide variant
(intron variant)
DTNA-related disorder
+5 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC101927055, TTN
(R1572* +1 more)
Single nucleotide variant
(nonsense +1 more)
Left ventricular noncompaction cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYH6
(R654W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
LOC126861898, MYH7
(K837M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 9
+12 more
GConflicting classifications of pathogenicity
LOC114827851, MYH7
Single nucleotide variant
Hypertrophic cardiomyopathy
+5 more
GLikely benign
TAFAZZIN
Single nucleotide variant
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
+3 more
GBenign/Likely benign
TAFAZZIN
Single nucleotide variant
(no sequence alteration +1 more)
Left ventricular noncompaction cardiomyopathy
+3 more
GBenign
TAFAZZIN
Single nucleotide variant
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
+3 more
GBenign/Likely benign
TAFAZZIN
Single nucleotide variant
(3 prime UTR variant +1 more)
Endocardial fibroelastosis
+3 more
GUncertain significance
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+7 more
GBenign/Likely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
DNASE1L1, LOC130068869
+1 more
Single nucleotide variant
(5 prime UTR variant +2 more)
Left ventricular noncompaction cardiomyopathy
+4 more
GBenign/Likely benign
DNASE1L1, LOC130068869
+1 more
Deletion
(no sequence alteration +2 more)
3-Methylglutaconic aciduria type 2
+3 more
GBenign
DTNA
Duplication
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
GUncertain significance
DTNA
Deletion
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
GBenign
DTNA
Deletion
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
GUncertain significance
DTNA
Duplication
(3 prime UTR variant +1 more)
Left ventricular noncompaction cardiomyopathy
+1 more
GUncertain significance
DTNA
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Microsatellite
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
GJD2-DT, ACTC1
Microsatellite
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 11
+10 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 11
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Insertion
(intron variant)
Hypertrophic cardiomyopathy 11
+7 more
GConflicting classifications of pathogenicity
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Atrial septal defect
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
MYH7
Single nucleotide variant
(5 prime UTR variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
MYH7
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
MYH7
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
MYH7
(A150G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(intron variant)
Left ventricular noncompaction cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
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