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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT2
(W287* +5 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
TNNT2
(W287* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
TNNT2
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 2
+2 more
GPathogenic
TNNT2
Single nucleotide variant
(splice donor variant)
Cardiomyopathy, familial restrictive, 3
+3 more
GPathogenic/Likely pathogenic
TNNT2
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(K273E +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TNNT2
(Q282fs +5 more)
Duplication
(frameshift variant)
Cardiomyopathy
GPathogenic
TNNT2
(N269K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
TNNT2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
TNNT2
(I211T +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
GLikely pathogenic
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(K175E +7 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TNNT2
(R205L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
GPathogenic
TNNT2
(T203S +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(K167N +7 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TNNT2
(R190L +7 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TNNT2
Single nucleotide variant
(splice donor variant +1 more)
Hypertrophic cardiomyopathy 2
GLikely pathogenic
TNNT2
Deletion
(intron variant +1 more)
not provided
GLikely pathogenic
TNNT2
(S179F +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
TNNT2
(S179A +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(R143L +3 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
GPathogenic
TNNT2
(R173Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R173W +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic
TNNT2
(R166G +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TNNT2
(E163del +3 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(A127P +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TNNT2
(R141W +3 more)
Single nucleotide variant
(missense variant)
TNNT2 -related cardiomyopathies
+8 more
GPathogenic
TNNT2
(R134G +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(R139S +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TNNT2
(A105fs +4 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1D
GLikely pathogenic
TNNT2
(R134G +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+3 more
GPathogenic/Likely pathogenic
TNNT2
(R131P +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+3 more
GLikely pathogenic
TNNT2
(R131Q +3 more)
Single nucleotide variant
(missense variant)
TNNT2-related condition
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R131G +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TNNT2
(R131W +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R130C +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(K119E +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(E114Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial dilated cardiomyopathy
GLikely pathogenic
TNNT2
(E118K +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GLikely pathogenic
TNNT2
(F110L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
TNNT2
(F110L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
TNNT2
(F110I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+3 more
GPathogenic
TNNT2
(H104Y +2 more)
Indel
(missense variant +1 more)
Primary dilated cardiomyopathy
GLikely pathogenic
TNNT2
Deletion
(inframe_deletion +1 more)
Primary familial hypertrophic cardiomyopathy
GPathogenic
TNNT2
(D98E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(K96N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
+2 more
GPathogenic
TNNT2
(K107N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
TNNT2
(E106del +3 more)
Deletion
(inframe_deletion +1 more)
Cardiomyopathy, familial restrictive, 3
+1 more
GPathogenic/Likely pathogenic
TNNT2
(R104L +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1D
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R104H +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GPathogenic
TNNT2
(R104S +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
GPathogenic
TNNT2
(R104C +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, familial restrictive, 3
+6 more
GPathogenic/Likely pathogenic
TNNT2
(K103Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GLikely pathogenic
TNNT2
(R102L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
TNNT2
(R92Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R92G +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(R102W +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GPathogenic
TNNT2
(I100N +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
GLikely pathogenic
TNNT2
(D97E +3 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TNNT2
(D88E +3 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TNNT2
(F86Y +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(F87C +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(D86A +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(V94M +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
(R79I +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+2 more
GLikely pathogenic
TNNT2
(G82R +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TNNT2
(P80L +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TNNT2
(I79N +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic
TNNT2
(I88F +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely pathogenic
TNNT2
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1D
GLikely pathogenic
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