ClinVar for MedGen (Select 346805) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24268171.	NC_000003.11:g.(?_14180660)_(14180817_?)del GRCh37: Chr3:14180660-14180817	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 24167762.	NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr) GRCh37: Chr3:14166700 GRCh38: Chr3:14125200	TMEM43	A3T	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 24167223.	NM_024334.3(TMEM43):c.513-17C>T GRCh37: Chr3:14175222 GRCh38: Chr3:14133722	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 22017044.	NM_024334.3(TMEM43):c.102T>A (p.Gly34=) GRCh37: Chr3:14171001 GRCh38: Chr3:14129501	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 21965545.	NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu) GRCh37: Chr3:14173114 GRCh38: Chr3:14131614	TMEM43	P61L, P106L, P111L	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 21962656.	NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro) GRCh37: Chr3:14183120 GRCh38: Chr3:14141620	TMEM43	L293P, L318P, L343P, L338P, L341P, L342P, L344P	Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jan 20, 2023)	criteria provided, conflicting interpretations
Select item 21957467.	NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu) GRCh37: Chr3:14175274-14175285 GRCh38: Chr3:14133774-14133785	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 21895878.	NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn) GRCh37: Chr3:14177367 GRCh38: Chr3:14135867	TMEM43	D231N, D281N, D280N, D282N, D256N, D276N	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 21874719.	NM_024334.3(TMEM43):c.584-7C>T GRCh37: Chr3:14176263 GRCh38: Chr3:14134763	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 218607810.	NM_024334.3(TMEM43):c.813G>A (p.Gln271=) GRCh37: Chr3:14177339 GRCh38: Chr3:14135839	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 218560411.	NM_024334.3(TMEM43):c.990C>G (p.Leu330=) GRCh37: Chr3:14180787 GRCh38: Chr3:14139287	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 217507512.	NM_024334.3(TMEM43):c.40C>T (p.His14Tyr) GRCh37: Chr3:14170939 GRCh38: Chr3:14129439	TMEM43	H14Y	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 217434213.	NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp) GRCh37: Chr3:14172445 GRCh38: Chr3:14130945	TMEM43	R91W, R46W, R96W	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 216462614.	NM_024334.3(TMEM43):c.706-13C>T GRCh37: Chr3:14176645 GRCh38: Chr3:14135145	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 216446515.	NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala) GRCh37: Chr3:14174048 GRCh38: Chr3:14132548	TMEM43	E127A, E132A, E82A	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 215590016.	NM_024334.3(TMEM43):c.714C>T (p.Asp238=) GRCh37: Chr3:14176666 GRCh38: Chr3:14135166	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 215527717.	NM_024334.3(TMEM43):c.351dup (p.His118fs) GRCh37: Chr3:14173131-14173132 GRCh38: Chr3:14131631-14131632	TMEM43	H118fs	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 215000718.	NM_024334.3(TMEM43):c.12+16C>T GRCh37: Chr3:14166721 GRCh38: Chr3:14125221	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 214910919.	NM_024334.3(TMEM43):c.236del (p.Ser79fs) GRCh37: Chr3:14172395 GRCh38: Chr3:14130895	TMEM43	S79fs	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 214382120.	NM_024334.3(TMEM43):c.165C>T (p.Gly55=) GRCh37: Chr3:14172324 GRCh38: Chr3:14130824	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214213721.	NM_024334.3(TMEM43):c.512+15C>T GRCh37: Chr3:14174450 GRCh38: Chr3:14132950	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 214149122.	NM_024334.3(TMEM43):c.924C>G (p.Thr308=) GRCh37: Chr3:14180721 GRCh38: Chr3:14139221	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 213399423.	NM_024334.3(TMEM43):c.105G>A (p.Gly35=) GRCh37: Chr3:14171004 GRCh38: Chr3:14129504	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 212785624.	NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys) GRCh37: Chr3:14174047 GRCh38: Chr3:14132547	TMEM43	E132K, E127K, E82K	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212102225.	NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer) GRCh37: Chr3:14183294 GRCh38: Chr3:14141794	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211377326.	NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln) GRCh37: Chr3:14183120 GRCh38: Chr3:14141620	TMEM43	L293Q, L338Q, L342Q, L318Q, L344Q, L341Q, L343Q	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211213327.	NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg) GRCh37: Chr3:14180722 GRCh38: Chr3:14139222	TMEM43	W259R, W310R, W309R, W284R, W304R, W307R, W308R	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 210717928.	NM_024334.3(TMEM43):c.780+7T>G GRCh37: Chr3:14176739 GRCh38: Chr3:14135239	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 209574229.	NM_024334.3(TMEM43):c.723C>T (p.Val241=) GRCh37: Chr3:14176675 GRCh38: Chr3:14135175	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 209397730.	NM_024334.3(TMEM43):c.298-15T>C GRCh37: Chr3:14173065 GRCh38: Chr3:14131565	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 207574431.	NM_024334.3(TMEM43):c.795C>T (p.Ala265=) GRCh37: Chr3:14177321 GRCh38: Chr3:14135821	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 207066532.	NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly) GRCh37: Chr3:14183231 GRCh38: Chr3:14141731	TMEM43	A355G, A380G, A381G, A330G, A375G, A378G, A379G	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 206554033.	NM_024334.3(TMEM43):c.393-18G>A GRCh37: Chr3:14174028 GRCh38: Chr3:14132528	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 206171334.	NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu) GRCh37: Chr3:14172454 GRCh38: Chr3:14130954	TMEM43	K49E, K99E, K94E	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 205583935.	NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile) GRCh37: Chr3:14183257 GRCh38: Chr3:14141757	TMEM43	V388I, V389I, V339I, V364I, V384I, V387I, V390I	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205574136.	NM_024334.3(TMEM43):c.706-3del GRCh37: Chr3:14176651 GRCh38: Chr3:14135151	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205007037.	NM_024334.3(TMEM43):c.882+17A>C GRCh37: Chr3:14177425 GRCh38: Chr3:14135925	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 203923638.	NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys) GRCh37: Chr3:14173087 GRCh38: Chr3:14131587	TMEM43	S97C, S52C, S102C	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 202710939.	NM_024334.3(TMEM43):c.1050C>G (p.Ala350=) GRCh37: Chr3:14183142 GRCh38: Chr3:14141642	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 202576740.	NM_024334.3(TMEM43):c.443-4G>A GRCh37: Chr3:14174362 GRCh38: Chr3:14132862	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 201967241.	NM_024334.3(TMEM43):c.1068C>T (p.Ala356=) GRCh37: Chr3:14183160 GRCh38: Chr3:14141660	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 201646642.	NM_024334.3(TMEM43):c.186C>T (p.Thr62=) GRCh37: Chr3:14172345 GRCh38: Chr3:14130845	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201475543.	NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp) GRCh37: Chr3:14173095 GRCh38: Chr3:14131595	TMEM43	N105D, N55D, N100D	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201176244.	NM_024334.3(TMEM43):c.759T>C (p.Pro253=) GRCh37: Chr3:14176711 GRCh38: Chr3:14135211	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 200828745.	NM_024334.3(TMEM43):c.396G>A (p.Glu132=) GRCh37: Chr3:14174049 GRCh38: Chr3:14132549	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 200254746.	NM_024334.3(TMEM43):c.443-13T>G GRCh37: Chr3:14174353 GRCh38: Chr3:14132853	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 200134147.	NM_024334.3(TMEM43):c.552T>C (p.Phe184=) GRCh37: Chr3:14175278 GRCh38: Chr3:14133778	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 199637848.	NM_024334.3(TMEM43):c.13-2A>C GRCh37: Chr3:14170910 GRCh38: Chr3:14129410	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 199273649.	NM_024334.3(TMEM43):c.780+5C>A GRCh37: Chr3:14176737 GRCh38: Chr3:14135237	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 199152750.	NM_024334.3(TMEM43):c.495T>C (p.Ile165=) GRCh37: Chr3:14174418 GRCh38: Chr3:14132918	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 198679651.	NM_024334.3(TMEM43):c.393-19T>C GRCh37: Chr3:14174027 GRCh38: Chr3:14132527	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 198522652.	NM_024334.3(TMEM43):c.781-17C>G GRCh37: Chr3:14177290 GRCh38: Chr3:14135790	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 198518453.	NM_024334.3(TMEM43):c.778G>T (p.Val260Leu) GRCh37: Chr3:14176730 GRCh38: Chr3:14135230	TMEM43	V255L, V261L, V210L, V260L	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 198405154.	NM_024334.3(TMEM43):c.1000+13G>C GRCh37: Chr3:14180810 GRCh38: Chr3:14139310	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 198330555.	NM_024334.3(TMEM43):c.1086G>A (p.Leu362=) GRCh37: Chr3:14183178 GRCh38: Chr3:14141678	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 197988156.	NM_024334.3(TMEM43):c.583+13C>T GRCh37: Chr3:14175322 GRCh38: Chr3:14133822	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 197946057.	NM_024334.3(TMEM43):c.584G>T (p.Gly195Val) GRCh37: Chr3:14176270 GRCh38: Chr3:14134770	TMEM43	G196V, G145V, G195V, G190V	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 197528058.	NM_024334.3(TMEM43):c.390C>A (p.Ser130=) GRCh37: Chr3:14173172 GRCh38: Chr3:14131672	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 196867159.	NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn) GRCh37: Chr3:14176382 GRCh38: Chr3:14134882	TMEM43	K227N, K232N, K233N, K182N	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 196641760.	NM_024334.3(TMEM43):c.513-16T>G GRCh37: Chr3:14175223 GRCh38: Chr3:14133723	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 196217061.	NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys) GRCh37: Chr3:14180789 GRCh38: Chr3:14139289	TMEM43	Y330C, Y281C, Y306C, Y326C, Y329C, Y331C, Y332C	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 196028262.	NM_024334.3(TMEM43):c.699T>C (p.Tyr233=) GRCh37: Chr3:14176385 GRCh38: Chr3:14134885	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 196003063.	NM_024334.3(TMEM43):c.171A>G (p.Ala57=) GRCh37: Chr3:14172330 GRCh38: Chr3:14130830	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 193232364.	NM_024334.3(TMEM43):c.106A>G (p.Met36Val) GRCh37: Chr3:14171005 GRCh38: Chr3:14129505	TMEM43	M36V	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 193198965.	NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu) GRCh37: Chr3:14176662 GRCh38: Chr3:14135162	TMEM43	G237E, G238E, G232E, G187E	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 192722566.	NM_024334.3(TMEM43):c.1119C>A (p.Pro373=) GRCh37: Chr3:14183211 GRCh38: Chr3:14141711	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 191793467.	NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu) GRCh37: Chr3:14176348 GRCh38: Chr3:14134848	TMEM43	R221L, R216L, R171L, R222L	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 191296468.	NM_024334.3(TMEM43):c.414G>A (p.Gln138=) GRCh37: Chr3:14174067 GRCh38: Chr3:14132567	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 191120469.	NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val) GRCh37: Chr3:14183189 GRCh38: Chr3:14141689	TMEM43	A366V, A316V, A361V, A364V, A365V, A341V, A367V	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 190642970.	NM_024334.3(TMEM43):c.140_142del (p.Phe47del) GRCh37: Chr3:14171037-14171039 GRCh38: Chr3:14129537-14129539	TMEM43	F47del	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 180538471.	NM_024334.3(TMEM43):c.482T>G (p.Phe161Cys) GRCh37: Chr3:14174405 GRCh38: Chr3:14132905	TMEM43	F111C, F156C, F161C, F162C	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 180505972.	NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala) GRCh37: Chr3:14177370 GRCh38: Chr3:14135870	TMEM43	T232A, T257A, T277A, T281A, T282A, T283A	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177397273.	NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys) GRCh37: Chr3:14170913 GRCh38: Chr3:14129413	TMEM43	Y5C	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176574074.	NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn) GRCh37: Chr3:14180705 GRCh38: Chr3:14139205	TMEM43	S301N, S303N, S304N, S298N, S302N, S253N, S278N	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176523375.	NM_024334.3(TMEM43):c.894T>C (p.His298=) GRCh37: Chr3:14180691 GRCh38: Chr3:14139191	TMEM43		Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype	Likely benign (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175696176.	NM_024334.3(TMEM43):c.706-1G>T GRCh37: Chr3:14176657 GRCh38: Chr3:14135157	TMEM43		Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172130477.	NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp) GRCh37: Chr3:14183219 GRCh38: Chr3:14141719	TMEM43	A326D, A351D, A371D, A374D, A375D, A376D, A377D	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 172084878.	NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys) GRCh37: Chr3:14177350 GRCh38: Chr3:14135850	TMEM43	F225C, F250C, F270C, F274C, F275C, F276C	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 171882079.	NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile) GRCh37: Chr3:14180768 GRCh38: Chr3:14139268	TMEM43	N274I, N299I, N319I, N322I, N323I, N324I, N325I	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 171739880.	NM_024334.3(TMEM43):c.1153G>A (p.Val385Met) GRCh37: Chr3:14183245 GRCh38: Chr3:14141745	TMEM43	V335M, V360M, V380M, V383M, V384M, V385M, V386M	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 171487881.	NM_024334.3(TMEM43):c.668A>T (p.Asp223Val) GRCh37: Chr3:14176354 GRCh38: Chr3:14134854	TMEM43	D173V, D218V, D223V, D224V	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 170522882.	NM_024334.3(TMEM43):c.883-15C>G GRCh37: Chr3:14180665 GRCh38: Chr3:14139165	TMEM43		not specified, Arrhythmogenic right ventricular dysplasia 5	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 170191783.	NM_024334.3(TMEM43):c.393-2A>G GRCh37: Chr3:14174044 GRCh38: Chr3:14132544	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter
Select item 169895084.	NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly) GRCh37: Chr3:14180692 GRCh38: Chr3:14139192	TMEM43	R299G	Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167807185.	NM_024334.3(TMEM43):c.749dup (p.Asp251fs) GRCh37: Chr3:14176699-14176700 GRCh38: Chr3:14135199-14135200	TMEM43	D251fs	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant, Auditory neuropathy, autosomal dominant 3, not provided, Arrhythmogenic right ventricular dysplasia 5	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167221786.	NM_024334.3(TMEM43):c.513-17C>A GRCh37: Chr3:14175222 GRCh38: Chr3:14133722	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 167107387.	NM_024334.3(TMEM43):c.846C>A (p.Thr282=) GRCh37: Chr3:14177372 GRCh38: Chr3:14135872	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jun 28, 2021)	criteria provided, single submitter
Select item 166929388.	NM_024334.3(TMEM43):c.1158C>T (p.Pro386=) GRCh37: Chr3:14183250 GRCh38: Chr3:14141750	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jan 5, 2021)	criteria provided, single submitter
Select item 166847589.	NM_024334.3(TMEM43):c.291A>T (p.Thr97=) GRCh37: Chr3:14172450 GRCh38: Chr3:14130950	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jan 4, 2021)	criteria provided, single submitter
Select item 166405590.	NM_024334.3(TMEM43):c.882+20C>T GRCh37: Chr3:14177428 GRCh38: Chr3:14135928	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 165017991.	NM_024334.3(TMEM43):c.426G>A (p.Glu142=) GRCh37: Chr3:14174079 GRCh38: Chr3:14132579	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Nov 11, 2020)	criteria provided, single submitter
Select item 164540392.	NM_024334.3(TMEM43):c.288G>A (p.Arg96=) GRCh37: Chr3:14172447 GRCh38: Chr3:14130947	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 3, 2021)	criteria provided, single submitter
Select item 164512693.	NM_024334.3(TMEM43):c.13-4T>C GRCh37: Chr3:14170908 GRCh38: Chr3:14129408	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 164406994.	NM_024334.3(TMEM43):c.442+20C>T GRCh37: Chr3:14174115 GRCh38: Chr3:14132615	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 164354795.	NM_024334.3(TMEM43):c.990C>T (p.Leu330=) GRCh37: Chr3:14180787 GRCh38: Chr3:14139287	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 21, 2021)	criteria provided, single submitter
Select item 163839496.	NM_024334.3(TMEM43):c.883-16C>T GRCh37: Chr3:14180664 GRCh38: Chr3:14139164	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 163705497.	NM_024334.3(TMEM43):c.780+19G>A GRCh37: Chr3:14176751 GRCh38: Chr3:14135251	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 163501998.	NM_024334.3(TMEM43):c.840G>C (p.Gly280=) GRCh37: Chr3:14177366 GRCh38: Chr3:14135866	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 162873299.	NM_024334.3(TMEM43):c.584-16A>G GRCh37: Chr3:14176254 GRCh38: Chr3:14134754	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 1628503100.	NM_024334.3(TMEM43):c.837T>G (p.Ser279=) GRCh37: Chr3:14177363 GRCh38: Chr3:14135863	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely benign (Apr 2, 2021)	criteria provided, single submitter

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