ClinVar for OMIM (Select 604400) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024039	NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)	TMEM43 (V295A +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3013747	NM_024334.3(TMEM43):c.850C>T (p.Leu284=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3010963	NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)	TMEM43 (S243C +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2974762	NM_024334.3(TMEM43):c.21T>C (p.Ser7=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2971171	NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)	TMEM43 (K228N +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2968037	NM_024334.3(TMEM43):c.297+17A>C	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2966147	NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)	TMEM43 (G239E +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2959699	NM_024334.3(TMEM43):c.855C>T (p.Leu285=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2916339	NM_024334.3(TMEM43):c.584-18C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2913702	NM_024334.3(TMEM43):c.883-13C>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2912126	NM_024334.3(TMEM43):c.583+16C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2910698	NM_024334.3(TMEM43):c.583+5G>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2910510	NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2906112	NM_024334.3(TMEM43):c.706-3C>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2898886	NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)	TMEM43 (E207Q +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2892491	NM_024334.3(TMEM43):c.583+7C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2889542	NM_024334.3(TMEM43):c.135C>G (p.Leu45=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2888371	NM_001407276.1(TMEM43):c.883-2_883del	TMEM43	Microsatellite (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2884872	NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)	TMEM43 (S21C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2884188	NM_024334.3(TMEM43):c.297+16G>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2882435	NM_024334.3(TMEM43):c.204C>G (p.Leu68=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2879666	NM_024334.3(TMEM43):c.55del (p.Thr19fs)	TMEM43 (T19fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2879665	NM_024334.3(TMEM43):c.48A>G (p.Lys16=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2877009	NM_024334.3(TMEM43):c.163-20C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2873128	NM_024334.3(TMEM43):c.513-7C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2870736	NM_024334.3(TMEM43):c.57C>G (p.Thr19=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2862211	NM_024334.3(TMEM43):c.780+13C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2857341	NM_024334.3(TMEM43):c.201G>A (p.Gly67=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2856527	NM_024334.3(TMEM43):c.162+20C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2849526	NM_024334.3(TMEM43):c.241del (p.Ala81fs)	TMEM43 (A31fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2843951	NM_024334.3(TMEM43):c.924C>T (p.Thr308=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2838497	NM_024334.3(TMEM43):c.1149C>A (p.Ala383=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2837760	NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)	TMEM43 (S20N)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2830337	NM_024334.3(TMEM43):c.781-16C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2830335	NM_024334.3(TMEM43):c.301T>C (p.Leu101=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2828447	NM_024334.3(TMEM43):c.583+9C>G	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2828032	NM_024334.3(TMEM43):c.442+14C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2813078	NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)	TMEM43 (E78D +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2812304	NM_024334.3(TMEM43):c.923C>T (p.Thr308Ile)	TMEM43 (T308I +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2811033	NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)	TMEM43 (D218Y +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2810662	NM_024334.3(TMEM43):c.443-5A>G	TMEM43	Single nucleotide variant (splice acceptor variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2807960	NM_024334.3(TMEM43):c.588C>T (p.Leu196=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2804287	NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)	TMEM43 (N4I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2803161	NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)	TMEM43 (G265V +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2793050	NM_024334.3(TMEM43):c.443-2A>T	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2792015	NM_024334.3(TMEM43):c.443-18A>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2791799	NM_024334.3(TMEM43):c.804G>A (p.Arg268=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2791321	NM_024334.3(TMEM43):c.882+12G>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2788013	NM_024334.3(TMEM43):c.12+2T>C	TMEM43	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2784233	NM_024334.3(TMEM43):c.549C>G (p.Pro183=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2781482	NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)	TMEM43 (S171G +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2779537	NM_024334.3(TMEM43):c.60C>T (p.Ser20=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2776910	NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)	TMEM43 (F320L +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2774594	NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)	TMEM43 (K141E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2774585	NM_024334.3(TMEM43):c.13-3C>T	TMEM43	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2770972	NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)	TMEM43 (D285fs +6 more)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2767482	NM_024334.3(TMEM43):c.706-15C>G	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2762644	NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)	TMEM43 (G308C +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2741975	NM_024334.3(TMEM43):c.513-14C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2740037	NM_024334.3(TMEM43):c.513-18G>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2738323	NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)	TMEM43 (H68Y +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2730838	NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)	TMEM43 (K118E +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2728671	NM_024334.3(TMEM43):c.536_537inv (p.Met179Thr)	TMEM43 (M129T +3 more)	Inversion (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2721566	NM_024334.3(TMEM43):c.781-19C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2719535	NM_024334.3(TMEM43):c.883-6C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2713621	NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)	TMEM43 (A44V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2706188	NM_024334.3(TMEM43):c.867G>A (p.Gly289=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2704849	NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)	TMEM43 (G34fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2702149	NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)	TMEM43 (Q22R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2697308	NM_024334.3(TMEM43):c.781-17C>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2696790	NM_024334.3(TMEM43):c.393-16T>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2695186	NM_024334.3(TMEM43):c.781-7T>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2599261	NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)	TMEM43 (L327F +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2426817	NC_000003.11:g.(?_14180660)_(14180817_?)del	TMEM43	Deletion	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2416776	NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)	TMEM43 (A3T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2416722	NM_024334.3(TMEM43):c.513-17C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2201704	NM_024334.3(TMEM43):c.102T>A (p.Gly34=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2196554	NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)	TMEM43 (P61L +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2196265	NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)	TMEM43 (L293P +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2195746	NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)	TMEM43	Deletion (inframe_indel)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2189587	NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)	TMEM43 (D231N +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2187471	NM_024334.3(TMEM43):c.584-7C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2186078	NM_024334.3(TMEM43):c.813G>A (p.Gln271=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2185604	NM_024334.3(TMEM43):c.990C>G (p.Leu330=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2175075	NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)	TMEM43 (H14Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2174342	NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)	TMEM43 (R91W +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2164626	NM_024334.3(TMEM43):c.706-13C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2164465	NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)	TMEM43 (E127A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2155900	NM_024334.3(TMEM43):c.714C>T (p.Asp238=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2155277	NM_024334.3(TMEM43):c.351dup (p.His118fs)	TMEM43 (H118fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2150007	NM_024334.3(TMEM43):c.12+16C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2149109	NM_024334.3(TMEM43):c.236del (p.Ser79fs)	TMEM43 (S79fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2143821	NM_024334.3(TMEM43):c.165C>T (p.Gly55=)	TMEM43	Single nucleotide variant (intron variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2142137	NM_024334.3(TMEM43):c.512+15C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2141491	NM_024334.3(TMEM43):c.924C>G (p.Thr308=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2133994	NM_024334.3(TMEM43):c.105G>A (p.Gly35=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2127856	NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)	TMEM43 (E132K +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2121022	NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer)	TMEM43	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2113773	NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)	TMEM43 (L293Q +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2112133	NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)	TMEM43 (W259R +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance

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