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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(P10349fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GPathogenic
TTN
(S1025fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1G
GPathogenic
TTN
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1G
GPathogenic
TTN, TTN-AS1
(I15702fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GPathogenic
TTN, TTN-AS1
(L22520* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GPathogenic
TTN, TTN-AS1
(I14837fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GLikely pathogenic
LOC126806423, TTN
+1 more
(K13703* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GPathogenic
TTN, TTN-AS1
(K13989* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GPathogenic
TTN
(K4270fs +4 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN, TTN-AS1
(L25934fs +5 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1G
GPathogenic
TTN
(R10997fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1G
GLikely pathogenic
TPM1
(V164L +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1Y
GLikely pathogenic
TBX5
(Q168* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 2
GPathogenic
LOC126861897, MHRT
+1 more
(R1608H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
MYH6
(K681fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1EE
GLikely pathogenic
LAMP2
Deletion
(inframe_deletion)
Primary dilated cardiomyopathy
GLikely pathogenic
LAMP2
(Q47*)
Single nucleotide variant
(nonsense)
Danon disease
GPathogenic
LAMA2
(S2506fs +1 more)
Duplication
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
FKTN
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1X
GPathogenic
DSP
(Q1211fs +2 more)
Deletion
(frameshift variant)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
GLikely pathogenic
DSP
(Q250*)
Single nucleotide variant
(nonsense)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
GPathogenic
DES
(S28F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TTN, TTN-AS1
(K11055fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN, TTN-AS1
(Q18027* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GPathogenic
LOC126806424, TTN
+1 more
(N10781fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
TTN, TTN-AS1
(S20089fs +5 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN
(R11501* +5 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GConflicting classifications of pathogenicity
BAG3
(P325fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
SDHA
(R451H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
LOC126806424, TTN
+1 more
(W10755* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely pathogenic
LMNA
(M1I)
Single nucleotide variant
(missense variant +1 more)
See cases
+2 more
GPathogenic
TTN, TTN-AS1
(R19624* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LMNA
(R189Q +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+15 more
GUncertain significance
LOC126806423, TTN
+1 more
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
GLikely pathogenic
TCAP
(R158C)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
FKTN
(R203* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+6 more
GPathogenic
TTN, TTN-AS1
(R15898* +5 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GLikely pathogenic
TTN-AS1, TTN
(R30895* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+3 more
GLikely pathogenic
TTN, TTN-AS1
(R27065* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GPathogenic
TTN, TTN-AS1
Duplication
(nonsense)
Cardiovascular phenotype
+3 more
GPathogenic
MYH7
(I736T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
DMD
Single nucleotide variant
(intron variant +1 more)
Duchenne muscular dystrophy
+3 more
GPathogenic
LOC129992585, SGCB
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2E
+1 more
GPathogenic/Likely pathogenic
DSP
(I950fs)
Duplication
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic/Likely pathogenic
CEP85L, PLN
(R14del)
Microsatellite
(inframe_indel +2 more)
SUDDEN INFANT DEATH SYNDROME
+6 more
GConflicting classifications of pathogenicity
DES
(G65S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(R173Q +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+5 more
GPathogenic/Likely pathogenic
MYBPC3
(R502W)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
MYBPC3
(D770N)
Single nucleotide variant
(missense variant)
Conduction disorder of the heart
+7 more
GPathogenic/Likely pathogenic
TPM1
(M281T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1Y
+5 more
GPathogenic/Likely pathogenic
TPM1
(S215L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
ACTC1, GJD2-DT
(R314H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
MYH7
(R719W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
RBM20
(R636H)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
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