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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPM1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
(I243V +1 more)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
(A3S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
GUncertain significance
MED12
(V417I)
Single nucleotide variant
(missense variant)
FG syndrome
GUncertain significance
TPM1
(I135V +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
+3 more
GUncertain significance
TPM1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 3
+2 more
GUncertain significance
TPM1
(S234fs +1 more)
Insertion
(3 prime UTR variant +2 more)
Hypertrophic cardiomyopathy 3
+1 more
GBenign
TPM1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 3
+3 more
GUncertain significance
TPM1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1Y
+2 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1Y
+3 more
GLikely benign
TPM1
(E148K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPM1
(V164L +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1Y
GLikely pathogenic
TPM1
(A128T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPM1
(Q174H +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
TPM1
(K190N +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
GUncertain significance
TPM1
(E75Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1Y
GUncertain significance
TPM1
(E95Q +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
GUncertain significance
TPM1
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1Y
+2 more
GUncertain significance
TPM1
(R55H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TPM1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 3
+2 more
GLikely benign
TPM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypertrophic cardiomyopathy 3
+2 more
GConflicting classifications of pathogenicity
TPM1
(R55C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TPM1
Single nucleotide variant
(3 prime UTR variant +2 more)
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
(F227V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1Y
+2 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy 3
+1 more
GUncertain significance
TPM1
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 3
+4 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
TPM1
(R105H +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
TPM1
(L88V +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
+3 more
GUncertain significance
TPM1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1Y
+2 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GLikely benign
TPM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypertrophic cardiomyopathy 3
+2 more
GBenign/Likely benign
TPM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(3 prime UTR variant +2 more)
Hypertrophic cardiomyopathy 3
+2 more
GBenign/Likely benign
TPM1
(I246V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1Y
+2 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
Dilated cardiomyopathy 1Y
+1 more
GUncertain significance
TPM1
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
TPM1
(E173D +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
GLikely pathogenic
LOC130057222, TPM1
+1 more
(A24T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
TPM1
(R21L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TPM1
(E115K +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
TPM1
(T282S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TPM1
(A277T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
TPM1
(A242V +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
TPM1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
TPM1
Single nucleotide variant
(intron variant)
not specified
+2 more
GUncertain significance
TPM1
(R178H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TPM1
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TPM1
(D159N +2 more)
Single nucleotide variant
(missense variant)
Familial cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
TPM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TPM1
(D84E +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 3
+4 more
GUncertain significance
TPM1
(E40* +1 more)
Single nucleotide variant
(nonsense +1 more)
not specified
+6 more
GUncertain significance
TPM1
(R160H +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1Y
+3 more
GPathogenic/Likely pathogenic
TPM1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 3
+6 more
GBenign/Likely benign
TPM1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign
TPM1
(M281T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TPM1
(D230N +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
TPM1
(S215L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
TPM1
(E40K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
TPM1
(E54K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TPM1
(D175N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic
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