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 364

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM43
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(5 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 5
+3 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
+2 more
GBenign/Likely benign
TMEM43
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TMEM43
(M1K)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
TMEM43
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(splice acceptor variant +1 more)
Cardiomyopathy
GUncertain significance
TMEM43
(Y5H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GUncertain significance
TMEM43
(S9R)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
TMEM43
(S9G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GLikely benign
TMEM43
(S9T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GLikely benign
TMEM43
(R11G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TMEM43
(R11W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TMEM43
(R11Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TMEM43
(R12K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
TMEM43
(H14Q)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GLikely benign
TMEM43
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TMEM43
(K16R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GConflicting classifications of pathogenicity
TMEM43
(K16I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
(K16N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
(V17A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
(K18R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GUncertain significance
TMEM43
(P23fs)
Duplication
(frameshift variant)
not provided
+2 more
GUncertain significance
TMEM43
(R28W)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
TMEM43
(R28Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TMEM43
(L29P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
(S30N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TMEM43
(E31K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GConflicting classifications of pathogenicity
TMEM43
(S33L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
TMEM43
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TMEM43
(M36I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GUncertain significance
TMEM43
(F37L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
(F37C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
(V38M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
TMEM43
(L40V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TMEM43
(M41V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GConflicting classifications of pathogenicity
TMEM43
(L44fs)
Deletion
(frameshift variant)
Cardiomyopathy
GUncertain significance
TMEM43
(L45F)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
TMEM43
(Y48S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GUncertain significance
TMEM43
(E54D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GUncertain significance
TMEM43
Single nucleotide variant
(splice donor variant +1 more)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GUncertain significance
TMEM43
Single nucleotide variant
(intron variant)
Cardiomyopathy
+5 more
GBenign
TMEM43
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GBenign/Likely benign
TMEM43
Deletion
(intron variant)
Cardiomyopathy
+4 more
GBenign/Likely benign
TMEM43
(G55D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TMEM43
(R56C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TMEM43
(R56H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
TMEM43
(A57S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
(A57T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TMEM43
(L58W +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
TMEM43
(T60M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
TMEM43
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TMEM43
(A61G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
TMEM43
(T12A +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TMEM43
(T57I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
TMEM43
(A65S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GLikely benign
TMEM43
(S69L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GConflicting classifications of pathogenicity
TMEM43
(L70F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TMEM43
(L70P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
TMEM43
(V72M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TMEM43
(P74S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
TMEM43
(D75N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMEM43
(S76fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TMEM43
(S76N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
(I77M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
TMEM43
(V80L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
(P82A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TMEM43
(N84S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
TMEM43
(G86E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
TMEM43
(V89M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GBenign/Likely benign
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GLikely benign
TMEM43
(I91V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(synonymous variant)
TMEM43-related disorder
+5 more
GBenign/Likely benign
TMEM43
(A94T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+3 more
GConflicting classifications of pathogenicity
TMEM43
(A44V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TMEM43
(R96G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TMEM43
(R96Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TMEM43
(K99T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TMEM43
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
TMEM43
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
Format
Items per page
Sort by
Choose Destination