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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT2
(R286H +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
TNNT2
(G285E +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TNNT2
(G285R +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TNNT2
(V283D +5 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TNNT2
(R278C +5 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
TNNT2
(A245V +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
TNNT2
(E244D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TNNT2
(L212Q +5 more)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GUncertain significance
TNNT2
(R205W +5 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNT2
(T194A +5 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TNNT2
Deletion
(intron variant +1 more)
not provided
GLikely pathogenic
TNNT2
(M181R +3 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
TNNT2
(E163del +3 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R141W +3 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
TNNT2
(R139H +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
(Q138R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(E136K +3 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+4 more
GUncertain significance
TNNT2
(F110L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GPathogenic/Likely pathogenic
TNNT2
(K107N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TNNT2
(R102W +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GPathogenic
TNNT2
(P80S +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TNNT2
(I79N +3 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
TNNT2
(A36P +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
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