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Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(T78S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYOZ2
(G129E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TTN, TTN-AS1
(P25601A +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
EYA4
(P212L +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+2 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(G1917R +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
RYR2
(G1885A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MYBPC3
(A1077S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GUncertain significance
CASQ2
Microsatellite
(inframe_insertion)
not specified
+2 more
GConflicting classifications of pathogenicity
not specified
GUncertain significance
MYPN
(S803R +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1KK
+2 more
GConflicting classifications of pathogenicity
ACTN2
(R851C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
AKAP9
(M3743I +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+2 more
GConflicting classifications of pathogenicity
MYH6
(V1202M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
KCNE1
(S37G)
Indel
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
ABCC9
(L1524fs)
Indel
(frameshift variant +1 more)
not provided
+5 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(splice acceptor variant +1 more)
Dilated cardiomyopathy 1J
+3 more
GLikely pathogenic
TTN-AS1, TTN
(K22634I +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTN
(L3558fs +1 more)
Duplication
(frameshift variant +1 more)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
LOC126806427, TTN
Microsatellite
(splice acceptor variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTN
(E12100V)
Single nucleotide variant
(missense variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GBenign
TTN
(E12116G)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+6 more
GBenign/Likely benign
TTN
(E12170K)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign
TTN
(V12209L)
Single nucleotide variant
(missense variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GBenign
TTN
(E12487D)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign
TTN
Microsatellite
(intron variant +1 more)
not provided
+3 more
GBenign/Likely benign
TTN
Microsatellite
(intron variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GBenign/Likely benign
LOC126806424, TTN
+1 more
(P17294S +5 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
TTN, TTN-AS1
(M20251I +5 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LOC126806422, TTN
+1 more
(P20679S +5 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
TTN, TTN-AS1
(N23192D +5 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN, TTN-AS1
(T24053K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN, TTN-AS1
(N28078D +5 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
TTN, TTN-AS1
(N30229D +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GBenign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN, TTN-AS1
(G31710* +5 more)
Single nucleotide variant
(nonsense)
not specified
GBenign
LOC129935183, TTN
+1 more
(P32693S +5 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
SGCD
(R31G +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
PSEN1
(V261G +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
MYPN
(A1141T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
MYH7
(R434K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Hutchinson-Gilford syndrome
+2 more
GBenign
LDB3
(A334T +4 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
LDB3
(A332V +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(intron variant)
not specified
GBenign
DSG2, DSG2-AS1
(K856N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GBenign
CALR3
(V274I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
CALR3
(D284N)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
VCL
(P943A)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TTN
(V15I)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN
(R3549H)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TTN
(Q4415L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TTN
(Q4620P)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GBenign/Likely benign
TTN
(M4621I)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GBenign/Likely benign
TTN
(R7250Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN
(Y11850N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
TTN
(E12170V)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+6 more
GBenign/Likely benign
TTN
(K12226E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely benign
TTN
(S12416L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GBenign/Likely benign
TTN
(V10556L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TTN
(E12509K)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GBenign/Likely benign
TTN
(A12579T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TTN
(P12729S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126806427, TTN
(G12425E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(K15140E +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V16702L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V16958I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P17706S +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTN, TTN-AS1
(K19758E +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC126806422, TTN
+1 more
(G20706S +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTN, TTN-AS1
(R21111K +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Y22267C +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q22397P +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
(T23012K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(D23095N +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(A23171G +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T23970A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(N23999D +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTN, TTN-AS1
(D24730N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(P25983T +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(I26244V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
(R27010H +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
(E27823A +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTN-AS1, TTN
(S28434I +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
(N29910K +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
TTN, TTN-AS1
(R29945H +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E30266K +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935182, TTN
+1 more
(F32806I +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTN, TTN-AS1
(E32991Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+10 more
GConflicting classifications of pathogenicity
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