"Clinical Genetics, Academic Medical Center"[submitter] AND "TMEM43"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518621	NM_024334.3(TMEM43):c.45C>G (p.Val15=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +2 more	GLikely benign
Select item 178137	NM_024334.3(TMEM43):c.45C>A (p.Val15=)	TMEM43	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 46153	NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)	TMEM43 (R28W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +7 more	GBenign/Likely benign
Select item 191780	NM_024334.3(TMEM43):c.121A>G (p.Met41Val)	TMEM43 (M41V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GConflicting classifications of pathogenicity
Select item 36871	NM_024334.3(TMEM43):c.163-14C>T	TMEM43	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 414170	NM_024334.3(TMEM43):c.163-6T>A	TMEM43	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 178816	NM_024334.3(TMEM43):c.163-3del	TMEM43	Deletion (intron variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 46141	NM_024334.3(TMEM43):c.222C>T (p.Pro74=)	TMEM43	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 343502	NM_024334.3(TMEM43):c.246G>A (p.Pro82=)	TMEM43	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 137675	NM_024334.3(TMEM43):c.392+16G>A	TMEM43	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 228013	NM_024334.3(TMEM43):c.402C>T (p.Thr134=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GBenign/Likely benign
Select item 862086	NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn)	TMEM43 (D136N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 46147	NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)	TMEM43 (E142K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GConflicting classifications of pathogenicity
Select item 241468	NM_024334.3(TMEM43):c.429G>A (p.Thr143=)	TMEM43	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 516731	NM_024334.3(TMEM43):c.442+12G>C	TMEM43	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 178140	NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)	TMEM43 (D162N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GConflicting classifications of pathogenicity
Select item 46148	NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)	TMEM43 (K168N)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 261698	NM_024334.3(TMEM43):c.512+19G>T	TMEM43	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 46150	NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)	TMEM43 (M179T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GBenign
Select item 177840	NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)	TMEM43 (Y233C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign
Select item 46152	NM_024334.3(TMEM43):c.705+7G>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GConflicting classifications of pathogenicity
Select item 1284801	NM_024334.3(TMEM43):c.706-3C>T	TMEM43	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 343507	NM_024334.3(TMEM43):c.777C>T (p.His259=)	TMEM43	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 378734	NM_024334.3(TMEM43):c.798G>A (p.Arg266=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GBenign/Likely benign
Select item 519458	NM_024334.3(TMEM43):c.864C>T (p.His288=)	TMEM43	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 391400	NM_024334.3(TMEM43):c.882+17A>G	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GLikely benign
Select item 46154	NM_024334.3(TMEM43):c.909C>T (p.Ser303=)	TMEM43	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 36873	NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)	TMEM43 (R312W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +7 more	GBenign/Likely benign
Select item 46155	NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)	TMEM43 (W316S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 46156	NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)	TMEM43 (A318V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 942943	NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)	TMEM43 (F353S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 46138	NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)	TMEM43 (A366T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GBenign
Select item 46139	NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)	TMEM43 (L369F)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 46140	NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)	TMEM43 (Y371H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202114	NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)	TMEM43 (G381S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 188665	NM_024334.3(TMEM43):c.*16C>T	TMEM43	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36