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Links from MedGen

Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM43
(D251fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TMEM43
(F297I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GUncertain significance
TMEM43
Duplication
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GUncertain significance
TMEM43
(R391fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 5
+2 more
GUncertain significance
TMEM43
(G67V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+3 more
GUncertain significance
TMEM43
(A172V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+3 more
GUncertain significance
TMEM43
(F353S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TMEM43
(R11G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TMEM43
(E235A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GUncertain significance
TMEM43
(S153L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TMEM43
(A61G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TMEM43
(Y245C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+3 more
GUncertain significance
TMEM43
(P234S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
TMEM43
(R117W)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
TMEM43
(L248M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TMEM43
(G86E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GUncertain significance
TMEM43
(L348V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
TMEM43
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TMEM43
(R96Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TMEM43
(H227D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TMEM43
(E150*)
Duplication
(nonsense)
Cardiomyopathy
+4 more
GUncertain significance
TMEM43
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TMEM43
(A314P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GConflicting classifications of pathogenicity
TMEM43
(R393W)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+5 more
GUncertain significance
TMEM43
(R163*)
Single nucleotide variant
(nonsense)
Auditory neuropathy, autosomal dominant 3
+5 more
GUncertain significance
TMEM43
(G222R)
Single nucleotide variant
(missense variant)
Auditory neuropathy, autosomal dominant 3
+4 more
GConflicting classifications of pathogenicity
TMEM43
(V89M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
TMEM43
(G322V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+1 more
GUncertain significance
TMEM43
(M1V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
TMEM43
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 5
+3 more
GBenign/Likely benign
TMEM43
(R28Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TMEM43
(E135K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GConflicting classifications of pathogenicity
TMEM43
(K141del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TMEM43
(R372*)
Single nucleotide variant
(nonsense)
not provided
+6 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
TMEM43
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
TMEM43
(E31K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GBenign/Likely benign
TMEM43
(E142Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TMEM43
(P82A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GUncertain significance
TMEM43
(R240C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+6 more
GConflicting classifications of pathogenicity
TMEM43
(R299T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GBenign/Likely benign
TMEM43
(M41V)
Single nucleotide variant
(missense variant)
Auditory neuropathy, autosomal dominant 3
+5 more
GConflicting classifications of pathogenicity
TMEM43
(G289R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
TMEM43
(R266W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TMEM43
(H215P)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TMEM43
(T143M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TMEM43
(Y233C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign
TMEM43
(W316S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TMEM43
(R28W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
TMEM43
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 5
+5 more
GBenign/Likely benign
TMEM43
(S209A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 5
+4 more
GUncertain significance
TMEM43
(M179T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
TMEM43
(K168N)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
TMEM43
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 5
+6 more
GBenign/Likely benign
TMEM43
Single nucleotide variant
(intron variant)
not specified
+3 more
GUncertain significance
TMEM43
(I91V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
GPathogenic
TMEM43
(R312W)
Single nucleotide variant
(missense variant)
Auditory neuropathy, autosomal dominant 3
+7 more
GBenign/Likely benign
TMEM43
(R266Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TMEM43
Single nucleotide variant
(intron variant)
Auditory neuropathy, autosomal dominant 3
+5 more
GBenign
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