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Items: 1 to 100 of 846

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Insertion
not provided
GLikely benign
TPM1
Single nucleotide variant
not provided
GLikely benign
TPM1
Single nucleotide variant
not provided
GLikely benign
TPM1
Single nucleotide variant
not provided
GLikely benign
TPM1
Single nucleotide variant
Dilated Cardiomyopathy, Dominant
+2 more
GBenign/Likely benign
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Single nucleotide variant
Dilated cardiomyopathy 1Y
+2 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
Dilated cardiomyopathy 1Y
+2 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
not provided
GBenign
TPM1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
TPM1
Single nucleotide variant
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
Single nucleotide variant
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
Single nucleotide variant
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
Deletion
(genic upstream transcript variant)
not provided
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
TPM1
Single nucleotide variant
(5 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
TPM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
TPM1
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1Y
+2 more
GUncertain significance
TPM1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 3
+3 more
GUncertain significance
TPM1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 3
+2 more
GUncertain significance
TPM1
(M1fs)
Deletion
(frameshift variant +1 more)
not specified
GUncertain significance
TPM1
(D2H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TPM1
(A3S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
GUncertain significance
TPM1
(A3V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(I4V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPM1
Microsatellite
(inframe_insertion)
not specified
GUncertain significance
TPM1
(K7del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
TPM1
(K6R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPM1
(M10fs)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GLikely benign
TPM1
(M8V)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(M8T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
TPM1
(M8K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(M8R)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TPM1
Indel
(missense variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(Q9*)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
TPM1
(Q9K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TPM1
(Q9R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(Q9L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TPM1
(M10I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
TPM1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
TPM1
(K12*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
TPM1
(D14Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPM1
(K15E)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(K15R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GBenign/Likely benign
TPM1
(K15N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TPM1
(E16K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(E16Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
TPM1
(N17H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GLikely benign
TPM1
(N17K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(A18T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GLikely pathogenic
TPM1
(A18D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(A18V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(L19F)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
TPM1
(D20N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
TPM1
Single nucleotide variant
(no sequence alteration)
not provided
Gnot provided
TPM1
(R21L)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
TPM1
(A22T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TPM1
(A22V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(A22G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TPM1
(E23Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(E23A)
Single nucleotide variant
(missense variant)
Familial cardiomyopathy
+1 more
GUncertain significance
TPM1
(E23D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TPM1
(Q24*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(A25V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
TPM1
(E26K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(E26G)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TPM1
(A27T)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
TPM1
(D28Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPM1
(D28H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
TPM1
(D28N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
TPM1
(D28A)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 3
GUncertain significance
TPM1
(K29Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 3
GUncertain significance
TPM1
(K30del)
Microsatellite
(inframe_deletion)
TPM1-related condition
+1 more
GLikely pathogenic
TPM1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TPM1
(K30A)
Indel
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
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