U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 916

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932244, LOC129932245
+1147 more
Copy number gain
See cases
GPathogenic
ADIPOR1, ARL8A
+166 more
Copy number loss
See cases
GPathogenic
CSRP1, CSRP1-AS1
+49 more
Copy number gain
See cases
GUncertain significance
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Deletion
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Familial restrictive cardiomyopathy
+7 more
GBenign/Likely benign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1D
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TNNT2
Deletion
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
TNNT2
Single nucleotide variant
(stop lost)
Cardiovascular phenotype
GUncertain significance
TNNT2
(K288T +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(W287C +7 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(W287* +5 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
TNNT2
(W287L +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(R293S +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+3 more
GConflicting classifications of pathogenicity
TNNT2
(R286C +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TNNT2
(G285E +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
TNNT2
(G285R +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(G285R +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 2
+6 more
GLikely benign
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
TNNT2
(V283D +5 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TNNT2
(K289E +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1D
+2 more
GLikely benign
TNNT2
(K247N +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TNNT2
(K247E +7 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(G279E +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TNNT2
(G246R +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(G279R +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+3 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1D
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 2
+4 more
GLikely benign
TNNT2
(R278P +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+6 more
GConflicting classifications of pathogenicity
TNNT2
(R278H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TNNT2
(R278C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1D
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1D
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GUncertain significance
TNNT2
(S275Y +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TNNT2
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GUncertain significance
TNNT2
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 3
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+4 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 3
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+3 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 3
+3 more
GBenign/Likely benign
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+3 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not specified
GBenign
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
Duplication
(splice donor variant)
Cardiomyopathy, familial restrictive, 3
+2 more
GUncertain significance
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
(V281A +7 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TNNT2
(K240Q +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TNNT2
(K273E +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TNNT2
(Q282fs +5 more)
Duplication
(frameshift variant)
Cardiomyopathy
GPathogenic
TNNT2
(Q239* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GUncertain significance
TNNT2
(N265S +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(N268I +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+6 more
GConflicting classifications of pathogenicity
TNNT2
(N265Y +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely benign
TNNT2
(D270Y +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(D270N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TNNT2
(N269K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TNNT2
(N236S +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 3
+2 more
GUncertain significance
TNNT2
(N269Y +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(N269D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
TNNT2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 2
+2 more
GLikely benign
TNNT2
(R265Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TNNT2
(R262* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
Insertion
(inframe_insertion)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(V263A +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+2 more
GUncertain significance
TNNT2
(V273I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+3 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination