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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT2
(R278H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TNNT2
(N265Y +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNNT2
(I228V +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 3
+9 more
GUncertain significance
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(K145E +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(R173W +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
TNNT2
(R161C +3 more)
Single nucleotide variant
(missense variant)
TNNT2-related disorder
+8 more
GConflicting classifications of pathogenicity
TNNT2
(R151fs +3 more)
Deletion
(frameshift variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNT2
(R130C +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(L130V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 2
+5 more
GUncertain significance
TNNT2
(I79N +3 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
TNNT2
(P71L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
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