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Links from MedGen

Items: 1 to 100 of 219

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
(T191M +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+4 more
GUncertain significance
PRKAG2
Deletion
(intron variant)
Lethal congenital glycogen storage disease of heart
+2 more
GBenign/Likely benign
PRKAG2
(P153L +2 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+3 more
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
+2 more
GUncertain significance
PRKAG2
(G114D +2 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+2 more
GUncertain significance
PRKAG2
(S138C +1 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
LOC129999660, PRKAG2
(L199V +3 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+3 more
GUncertain significance
PRKAG2
(S172C +4 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
+4 more
GUncertain significance
PRKAG2
(R30S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
PRKAG2
(P114L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
PRKAG2
(D201N +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+2 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
(L40Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Lethal congenital glycogen storage disease of heart
+3 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2, PRKAG2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
(V93A +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
+4 more
GLikely benign
PRKAG2
(S333A +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+5 more
GUncertain significance
PRKAG2
(S194L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
PRKAG2
(K11E)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+4 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MYH7
(I1927F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
FNIP1
(K873fs +2 more)
Deletion
(frameshift variant)
Wolff-Parkinson-White pattern
GUncertain significance
PRKAG2
(R120H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYBPC3
(G407R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
LMNA
(V474M +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GUncertain significance
VCL
(V1127I +1 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
PRDM16
(P548T)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
TGFBR2
(W521* +10 more)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TNNT2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, familial restrictive, 3
+4 more
GUncertain significance
VCL
(H184Y)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
RBM20
(L312M)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
TTC39A
(T445M +6 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
VCL
(T643M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
(E342D +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ACTC1, GJD2-DT
(A176fs)
Insertion
(frameshift variant)
Wolff-Parkinson-White pattern
GLikely pathogenic
KCNJ2
(D17N)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
TTC39A
(A501G +6 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
FLNC, FLNC-AS1
(M2250L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
WWP1
(M627L)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
LOC126806067, RYR2
(P1256L)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+4 more
GUncertain significance
ANK2
(Q455R +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RHBDF1
(K16T)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
LAMC1
(R1102C)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
TRPM4
(T911M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYH6
(R1477L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
DPP6
(M321T +4 more)
Single nucleotide variant
(missense variant +1 more)
Wolff-Parkinson-White pattern
GUncertain significance
DSP
(E1252K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DSP
(H65Y)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(A538V)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
MYBPC3
(G868D)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
LAMA4
(V467F +1 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
GJA5
(E299K)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
PRDM16
(P889L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCC9
(I150V)
Single nucleotide variant
(missense variant +1 more)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(R67Q)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(R5H)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
TBX5
(F206L +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
RYR2
(M995T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
AKAP9
(Q3523E +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA1E
(Q2174* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GPD1L
(G259R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DPP6
(P300R +4 more)
Single nucleotide variant
(missense variant +1 more)
Wolff-Parkinson-White pattern
GUncertain significance
ABCC9
Single nucleotide variant
(splice donor variant)
Wolff-Parkinson-White pattern
GLikely pathogenic
AKAP9
(R3758Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Wolff-Parkinson-White pattern
GLikely pathogenic
PITX2
(P65L)
Single nucleotide variant
(intron variant +1 more)
Wolff-Parkinson-White pattern
GUncertain significance
FLNC
(S1005L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
PRDM16
(T952M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
ANK2
(V227M +8 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ACTC1, GJD2-DT
(M315K)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
FNIP1
Single nucleotide variant
(splice donor variant)
Wolff-Parkinson-White pattern
GUncertain significance
ACTN2
(I692N +1 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
ANK2
(K1804E +51 more)
Single nucleotide variant
(missense variant +1 more)
Wolff-Parkinson-White pattern
GUncertain significance
MYH11, NDE1
(N1973S +1 more)
Single nucleotide variant
(intron variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NEBL
(H162Y +5 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
JUP
(R84Q)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
RHBDF1
(G462R)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
PRDM16
(D236N)
Single nucleotide variant
(missense variant)
PRDM16-related condition
+2 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
PRKAG2
(D372N +4 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
FLNA
(V2082L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNH2
(V69M +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
CASQ2
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PRKAG2
(S458A +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+3 more
GUncertain significance
TBX20
(P332fs)
Deletion
(frameshift variant)
Wolff-Parkinson-White pattern
+2 more
GPathogenic
PRKAG2
(E183K +2 more)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
+1 more
GUncertain significance
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