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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEXN
(T298R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
NEXN
(R392* +1 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNT2
(A104V +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1D
+6 more
GConflicting classifications of pathogenicity
ACTN2
(T347M +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TTN
(K4455R)
Single nucleotide variant
(intron variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CASR
(V817I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+9 more
GLikely pathogenic
SLC25A4
(A123D)
Single nucleotide variant
(missense variant)
Progressive sensorineural hearing impairment
+9 more
GPathogenic/Likely pathogenic
KCNH2
(V125A +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(N435S +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+5 more
GConflicting classifications of pathogenicity
PRKAG2
(R302Q +4 more)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+8 more
GPathogenic
PRKAG2
(P197R +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+9 more
GUncertain significance
PRKAG2
(T142I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
MYBPC3
(R1138P)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MYBPC3
(W1078*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+4 more
GPathogenic
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+12 more
GPathogenic/Likely pathogenic
MYBPC3
(R1048C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MYBPC3
(R939W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYBPC3
(K814del)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy 4
+5 more
GUncertain significance
MYBPC3
(W792fs)
Duplication
Hypertrophic cardiomyopathy
+6 more
GPathogenic
MYBPC3
(M555T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MYBPC3
(R495Q)
Single nucleotide variant
(missense variant)
MYBPC3-related disorder
+8 more
GPathogenic/Likely pathogenic
MYBPC3
Deletion
Hypertrophic cardiomyopathy 4
+7 more
GPathogenic/Likely pathogenic
MYBPC3
(R273C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
MYBPC3
(E258K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+6 more
GPathogenic/Likely pathogenic
MYBPC3
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 4
+7 more
GPathogenic/Likely pathogenic
MYL2
(E65K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
LOC126861896, MYH6
(A1704V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MYH6
(Q1065H)
Single nucleotide variant
(missense variant)
Migraine
+7 more
GConflicting classifications of pathogenicity
MYH7
(R1781H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(R1712Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GPathogenic
LOC126861897, MHRT
+1 more
(E1708K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
MHRT, MYH7
(L1544P)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+1 more
GUncertain significance
MHRT, MYH7
(K1459N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
GLikely benign
MYH7
(E1286K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
MYH7
(E1223K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+11 more
GConflicting classifications of pathogenicity
MYH7
(E1205K)
Single nucleotide variant
(missense variant)
MYH7-related disorder
+6 more
GConflicting classifications of pathogenicity
MYH7
(R1079Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
LOC126861898, MYH7
(M877I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+3 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(R870H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
LOC126861898, MYH7
(R858C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GPathogenic/Likely pathogenic
MYH7
(R671C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYH7
(R663S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GLikely pathogenic
MYH7
(N408K)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
MYH7
(D309N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TPM1
(D175N +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
POLG, POLGARF
(P587L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+14 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T251I)
Single nucleotide variant
(missense variant)
not provided
+15 more
GConflicting classifications of pathogenicity
DSG2
(Y198C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
TNNI3
(A65V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+12 more
GPathogenic/Likely pathogenic
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