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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT2
(W287* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
TNNT2
(R286H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TNNT2
(G279E +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TNNT2
(R278C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TNNT2
(N269D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(R205Q +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 3
+4 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
TNNT2
(L178F +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
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)
Dilated cardiomyopathy 1D
+5 more
GPathogenic
TNNT2
Microsatellite
(inframe_insertion)
Dilated cardiomyopathy 1D
+2 more
GConflicting classifications of pathogenicity
TNNT2
(E163del +3 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
Indel
(nonsense)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(R159Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
(R130C +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(F110I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+3 more
GPathogenic
TNNT2
(A104V +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TNNT2
(K107N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TNNT2
(R104L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R104C +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, familial restrictive, 3
+6 more
GPathogenic/Likely pathogenic
TNNT2
(R92Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TNNT2
(R102W +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GPathogenic
TNNT2
(I79N +3 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
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