"PreventionGenetics, part of Exact Sciences"[submitter] AND "TMEM43"[g - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 466424	NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)	TMEM43 (R28Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 343500	NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)	TMEM43 (S30N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 2637062	NM_024334.3(TMEM43):c.143A>G (p.Tyr48Cys)	TMEM43 (Y48C)	Single nucleotide variant (missense variant +1 more)	TMEM43-related disorder	GUncertain significance
Select item 36871	NM_024334.3(TMEM43):c.163-14C>T	TMEM43	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
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 343504	NM_024334.3(TMEM43):c.279C>T (p.Gly93=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GBenign/Likely benign
Select item 1004300	NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro)	TMEM43 (R96P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 165451	NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)	TMEM43 (V108A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 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 378733	NM_024334.3(TMEM43):c.516C>T (p.Ala172=)	TMEM43	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 202117	NM_024334.3(TMEM43):c.659G>A (p.Arg220His)	TMEM43 (R220H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 165456	NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)	TMEM43 (T277S)	Single nucleotide variant (missense variant)	TMEM43-related disorder +4 more	GBenign/Likely benign
Select item 629528	NM_024334.3(TMEM43):c.893A>G (p.His298Arg)	TMEM43 (H298R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 202109	NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)	TMEM43 (R299T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
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 926343	NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)	TMEM43 (N324D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 703199	NM_024334.3(TMEM43):c.1089C>T (p.Thr363=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GLikely benign
Select item 165458	NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	XPC, TMEM43 (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GBenign/Likely benign

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Items: 25