Atpaf2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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201 records found for search term Atpaf2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11664521	CV343639	single nucleotide variant	NM_145691.4(ATPAF2):c.-1G>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000406431]	uncertain significance	17	18039014	18039014	Human	1	name , alternate_id
10411604	CV211799	single nucleotide variant	NM_145691.4(ATPAF2):c.*20C>G	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001122368]\|not specified [RCV000200609]	benign	17	18018529	18018529	Human	1	name , alternate_id
28895144	CV876914	single nucleotide variant	NM_145691.4(ATPAF2):c.*54C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001122366]	uncertain significance	17	18018495	18018495	Human	1	name , alternate_id
28895146	CV876915	single nucleotide variant	NM_145691.4(ATPAF2):c.*26G>C	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001122367]	uncertain significance	17	18018523	18018523	Human	1	name , alternate_id
28904537	CV876918	single nucleotide variant	NM_145691.4(ATPAF2):c.-85C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001126124]\|not provided [RCV004694782]	uncertain significance	17	18039098	18039098	Human	1	name , alternate_id
28904539	CV876919	single nucleotide variant	NM_145691.4(ATPAF2):c.-90C>A	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001126125]\|not provided [RCV004694783]	uncertain significance	17	18039103	18039103	Human	1	name , alternate_id
11618920	CV327514	single nucleotide variant	NM_145691.4(ATPAF2):c.*378A>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000319499]	uncertain significance	17	18018171	18018171	Human	1	name , alternate_id
11620068	CV327518	single nucleotide variant	NM_145691.4(ATPAF2):c.*165C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000332239]\|not provided [RCV001660659]	benign\|likely benign	17	18018384	18018384	Human	1	name , alternate_id
11622157	CV327519	single nucleotide variant	NM_145691.4(ATPAF2):c.-147G>A	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000357270]\|not provided [RCV001582963]	benign\|likely benign	17	18039160	18039160	Human	1	name , alternate_id
11624672	CV337350	single nucleotide variant	NM_145691.4(ATPAF2):c.*132C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000389215]	uncertain significance	17	18018417	18018417	Human	1	name , alternate_id
11612762	CV343627	single nucleotide variant	NM_145691.4(ATPAF2):c.*456T>C	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000262128]	benign\|uncertain significance	17	18018093	18018093	Human	1	name , alternate_id
11612565	CV343629	single nucleotide variant	NM_145691.4(ATPAF2):c.*194C>A	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000260710]	uncertain significance	17	18018355	18018355	Human	1	name , alternate_id
11617031	CV343640	single nucleotide variant	NM_145691.4(ATPAF2):c.-107G>A	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000300107]	likely benign\|uncertain significance	17	18039120	18039120	Human	1	name , alternate_id
11660964	CV345122	single nucleotide variant	NM_145691.4(ATPAF2):c.*337T>C	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000371906]	uncertain significance	17	18018212	18018212	Human	1	name , alternate_id
11627983	CV345129	single nucleotide variant	NM_145691.4(ATPAF2):c.*130T>C	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000292533]	benign\|likely benign	17	18018419	18018419	Human	1	name , alternate_id
28904275	CV876908	single nucleotide variant	NM_145691.4(ATPAF2):c.*526C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001126017]	uncertain significance	17	18018023	18018023	Human	1	name , alternate_id
28904279	CV876909	single nucleotide variant	NM_145691.4(ATPAF2):c.*485G>A	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001126018]	uncertain significance	17	18018064	18018064	Human	1	name , alternate_id
28908301	CV876910	single nucleotide variant	NM_145691.4(ATPAF2):c.*250C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001128112]	uncertain significance	17	18018299	18018299	Human	1	name , alternate_id
28908303	CV876911	single nucleotide variant	NM_145691.4(ATPAF2):c.*138G>A	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001128113]	uncertain significance	17	18018411	18018411	Human	1	name , alternate_id
28908304	CV876912	single nucleotide variant	NM_145691.4(ATPAF2):c.*137C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001128114]	uncertain significance	17	18018412	18018412	Human	1	name , alternate_id
28895139	CV876913	single nucleotide variant	NM_145691.4(ATPAF2):c.*108C>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001122365]	uncertain significance	17	18018441	18018441	Human	1	name , alternate_id
28904542	CV876920	single nucleotide variant	NM_145691.4(ATPAF2):c.-107G>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001126126]	uncertain significance	17	18039120	18039120	Human	1	name , alternate_id
156347748	CV1989214	single nucleotide variant	NM_145691.4(ATPAF2):c.134-6T>C	not provided [RCV002631766]	likely benign	17	18028665	18028665	Human		name
405111327	CV2903111	duplication	NM_145691.4(ATPAF2):c.134-4dup	not provided [RCV003557933]	likely benign	17	18028662	18028663	Human		name
402509714	CV2938585	single nucleotide variant	NM_145691.4(ATPAF2):c.503+5G>C	not provided [RCV003662449]	uncertain significance	17	18024619	18024619	Human		name
596938562	CV3549522	single nucleotide variant	NM_145691.4(ATPAF2):c.616+3A>T	not provided [RCV004812562]	uncertain significance	17	18021742	18021742	Human		name
597831437	CV3750947	single nucleotide variant	NM_145691.4(ATPAF2):c.617-9T>G	not provided [RCV005084691]	likely benign	17	18021247	18021247	Human		name
597968444	CV3761085	single nucleotide variant	NM_145691.4(ATPAF2):c.732+5G>A	not provided [RCV005083472]	uncertain significance	17	18021118	18021118	Human		name
597969111	CV3761340	single nucleotide variant	NM_145691.4(ATPAF2):c.732+6G>A	not provided [RCV005083727]	uncertain significance	17	18021117	18021117	Human		name
12895150	CV409847	single nucleotide variant	NM_145691.4(ATPAF2):c.133+1G>T	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000851186]\|not provided [RCV000485392]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	18038880	18038880	Human	1	name , alternate_id
15180326	CV731129	single nucleotide variant	NM_145691.4(ATPAF2):c.178+7G>A	not provided [RCV000885501]	likely benign	17	18028608	18028608	Human		name
150414358	CV1191927	single nucleotide variant	NM_145691.4(ATPAF2):c.504-51G>T	not provided [RCV001567497]	likely benign	17	18021908	18021908	Human		name
150499863	CV1283047	single nucleotide variant	NM_145691.4(ATPAF2):c.179-72T>C	not provided [RCV001718274]	benign	17	18028449	18028449	Human		name
152169868	CV1529394	single nucleotide variant	NM_145691.4(ATPAF2):c.422+20G>A	not provided [RCV002161584]	likely benign	17	18026299	18026299	Human		name
152166592	CV1566477	single nucleotide variant	NM_145691.4(ATPAF2):c.503+16C>T	not provided [RCV002160679]	likely benign	17	18024608	18024608	Human		name
152142554	CV1654356	single nucleotide variant	NM_145691.4(ATPAF2):c.616+20T>C	not provided [RCV002200764]	likely benign	17	18021725	18021725	Human		name
156068518	CV1971951	single nucleotide variant	NM_145691.4(ATPAF2):c.616+19G>A	not provided [RCV002621173]	likely benign	17	18021726	18021726	Human		name
156416524	CV1976661	single nucleotide variant	NM_145691.4(ATPAF2):c.732+17C>G	not provided [RCV002589739]	likely benign	17	18021106	18021106	Human		name
156193936	CV2018004	single nucleotide variant	NM_145691.4(ATPAF2):c.616+18T>C	not provided [RCV002700049]	likely benign	17	18021727	18021727	Human		name
155956972	CV2040196	single nucleotide variant	NM_145691.4(ATPAF2):c.733-11C>T	not provided [RCV002776067]	likely benign	17	18018697	18018697	Human		name
156185190	CV2178620	deletion	NM_145691.4(ATPAF2):c.178+19del	not provided [RCV003057654]	likely benign	17	18028596	18028596	Human		name
405222251	CV3154903	single nucleotide variant	NM_145691.4(ATPAF2):c.179-15A>G	not provided [RCV003847398]	likely benign	17	18028392	18028392	Human		name
405200572	CV3168703	single nucleotide variant	NM_145691.4(ATPAF2):c.324+20A>T	not provided [RCV003860641]	likely benign	17	18028212	18028212	Human		name
405241047	CV3176788	single nucleotide variant	NM_145691.4(ATPAF2):c.324+15G>A	not provided [RCV003867226]	likely benign	17	18028217	18028217	Human		name
597910690	CV3749656	single nucleotide variant	NM_145691.4(ATPAF2):c.134-20T>A	not provided [RCV005073504]	likely benign	17	18028679	18028679	Human		name
12847531	CV378103	single nucleotide variant	NM_145691.4(ATPAF2):c.179-12T>G	not provided [RCV000443656]	uncertain significance	17	18028389	18028389	Human		name
13541963	CV505808	single nucleotide variant	NM_145691.4(ATPAF2):c.324+11C>T	not provided [RCV002066745]\|not specified [RCV000616878]	likely benign	17	18028221	18028221	Human		name
14737942	CV668919	single nucleotide variant	NM_145691.4(ATPAF2):c.422+15G>A	not provided [RCV000839151]	benign\|likely benign	17	18026304	18026304	Human		name
28902287	CV880479	single nucleotide variant	NM_145691.4(ATPAF2):c.422+11T>C	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001125155]	uncertain significance	17	18026308	18026308	Human	1	name , alternate_id
150335474	CV1172961	single nucleotide variant	NM_145691.4(ATPAF2):c.733-125C>T	not provided [RCV001540581]	likely benign	17	18018811	18018811	Human		name
150411163	CV1178120	single nucleotide variant	NM_145691.4(ATPAF2):c.504-256G>A	not provided [RCV001547017]	likely benign	17	18022113	18022113	Human		name
150420703	CV1181481	single nucleotide variant	NM_145691.4(ATPAF2):c.733-200T>C	not provided [RCV001551672]	likely benign	17	18018886	18018886	Human		name
150418571	CV1195165	single nucleotide variant	NM_145691.4(ATPAF2):c.133+274G>C	not provided [RCV001569279]	likely benign	17	18038607	18038607	Human		name
150437032	CV1200914	single nucleotide variant	NM_145691.4(ATPAF2):c.504-265C>T	not provided [RCV001582994]	likely benign	17	18022122	18022122	Human		name
150458495	CV1202769	deletion	NM_145691.4(ATPAF2):c.134-271del	not provided [RCV001586422]	likely benign	17	18028930	18028930	Human		name
150486785	CV1203353	single nucleotide variant	NM_145691.4(ATPAF2):c.733-317A>C	not provided [RCV001591531]	likely benign	17	18019003	18019003	Human		name
150431022	CV1206211	single nucleotide variant	NM_145691.4(ATPAF2):c.325-216C>G	not provided [RCV001580859]	likely benign	17	18026632	18026632	Human		name
150459604	CV1252975	single nucleotide variant	NM_145691.4(ATPAF2):c.503+269C>T	not provided [RCV001669303]	benign	17	18024355	18024355	Human		name
150509948	CV1286304	single nucleotide variant	NM_145691.4(ATPAF2):c.616+156A>G	not provided [RCV001720832]	benign	17	18021589	18021589	Human		name
150509968	CV1286315	single nucleotide variant	NM_145691.4(ATPAF2):c.733-161G>A	not provided [RCV001720843]	benign	17	18018847	18018847	Human		name
14713657	CV667842	single nucleotide variant	NM_145691.4(ATPAF2):c.732+301C>A	not provided [RCV000828781]	likely benign	17	18020822	18020822	Human		name
14724343	CV668759	single nucleotide variant	NM_145691.4(ATPAF2):c.616+237T>G	not provided [RCV000832941]	benign	17	18021508	18021508	Human		name
14713650	CV668760	single nucleotide variant	NM_145691.4(ATPAF2):c.616+191T>C	not provided [RCV000828779]	benign	17	18021554	18021554	Human		name
14722899	CV668763	single nucleotide variant	NM_145691.4(ATPAF2):c.422+206T>A	not provided [RCV000832297]	benign	17	18026113	18026113	Human		name
14730522	CV668918	single nucleotide variant	NM_145691.4(ATPAF2):c.616+103A>G	not provided [RCV000835722]	benign	17	18021642	18021642	Human		name
14713665	CV669194	single nucleotide variant	NM_145691.4(ATPAF2):c.733-215G>A	not provided [RCV000828785]	likely benign	17	18018901	18018901	Human		name
14713659	CV669203	single nucleotide variant	NM_145691.4(ATPAF2):c.733-280C>T	not provided [RCV000828782]	benign	17	18018966	18018966	Human		name
156229746	CV2164953	duplication	NM_145691.4(ATPAF2):c.177_178+4dup	not provided [RCV003043040]	uncertain significance	17	18028610	18028611	Human		name
150494235	CV1238827	duplication	NM_145691.4(ATPAF2):c.178+28_178+29dup	not provided [RCV001655371]	benign	17	18028570	18028571	Human		name
152167157	CV1534966	deletion	NM_145691.4(ATPAF2):c.178+17_178+18del	not provided [RCV002160799]	likely benign	17	18028597	18028598	Human		name
12844937	CV375795	single nucleotide variant	NM_145691.4(ATPAF2):c.75T>G (p.Ala25=)	not specified [RCV000438892]	likely benign	17	18038939	18038939	Human		name
12913588	CV422149	single nucleotide variant	NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV002265781]\|not provided [RCV000494004]	uncertain significance	17	18039006	18039006	Human	1	name , alternate_id
152999894	CV1683440	single nucleotide variant	NM_145691.4(ATPAF2):c.132A>C (p.Thr44=)	See cases [RCV002252624]	uncertain significance	17	18038882	18038882	Human		name
156414015	CV1919474	single nucleotide variant	NM_145691.4(ATPAF2):c.240C>T (p.Thr80=)	not provided [RCV002588355]	likely benign	17	18028316	18028316	Human		name
156258899	CV2142355	single nucleotide variant	NM_145691.4(ATPAF2):c.183C>A (p.Gly61=)	not provided [RCV002988396]	likely benign	17	18028373	18028373	Human		name
597913489	CV3833801	single nucleotide variant	NM_145691.4(ATPAF2):c.11G>A (p.Ser4Asn)	not provided [RCV005183160]	uncertain significance	17	18039003	18039003	Human		name
13539420	CV506230	single nucleotide variant	NM_145691.4(ATPAF2):c.240C>G (p.Thr80=)	not specified [RCV000613247]	likely benign	17	18028316	18028316	Human		name
15117562	CV755670	single nucleotide variant	NM_145691.4(ATPAF2):c.111C>T (p.Ala37=)	not provided [RCV000917818]	likely benign\|conflicting interpretations of pathogenicity	17	18038903	18038903	Human		name
38459331	CV919713	deletion	NM_145691.4(ATPAF2):c.98del (p.Ile33fs)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001195756]	likely pathogenic	17	18038916	18038916	Human	1	name , alternate_id
126736925	CV1018251	single nucleotide variant	NM_145691.4(ATPAF2):c.480A>C (p.Pro160=)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001328645]	uncertain significance	17	18024647	18024647	Human	1	name , alternate_id
151730917	CV1355400	single nucleotide variant	NM_145691.4(ATPAF2):c.79A>G (p.Met27Val)	not provided [RCV001984194]	uncertain significance	17	18038935	18038935	Human		name
151711908	CV1401473	single nucleotide variant	NM_145691.4(ATPAF2):c.399G>A (p.Lys133=)	not provided [RCV001964470]	likely benign	17	18026342	18026342	Human		name
8690219	CV140169	single nucleotide variant	NM_145691.4(ATPAF2):c.346T>C (p.Leu116=)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000345321]\|not provided [RCV000676251]\|not specified [RCV000123783]	benign\|likely benign\|uncertain significance	17	18026395	18026395	Human	1	name , alternate_id
8690221	CV140171	single nucleotide variant	NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	ATPAF2-related disorder [RCV003925229]\|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000999963]\|not provided [RCV000676250]\|not specified [RCV000123785]	benign\|likely benign	17	18018681	18018681	Human	1	name , trait , alternate_id
8690222	CV140172	single nucleotide variant	NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000339657]\|not provided [RCV000904855]\|not specified [RCV000123786]	benign\|likely benign	17	18038979	18038979	Human	1	name , alternate_id
151741751	CV1478075	single nucleotide variant	NM_145691.4(ATPAF2):c.83G>A (p.Ser28Asn)	not provided [RCV002005874]\|not specified [RCV004043251]	uncertain significance	17	18038931	18038931	Human		name
152075068	CV1551097	single nucleotide variant	NM_145691.4(ATPAF2):c.667C>T (p.Leu223=)	not provided [RCV002192301]	likely benign	17	18021188	18021188	Human		name
152113934	CV1581981	single nucleotide variant	NM_145691.4(ATPAF2):c.327C>T (p.Thr109=)	not provided [RCV002097216]	likely benign	17	18026414	18026414	Human		name
152065586	CV1641272	single nucleotide variant	NM_145691.4(ATPAF2):c.714C>A (p.Arg238=)	not provided [RCV002209288]	likely benign	17	18021141	18021141	Human		name
156407125	CV1917996	single nucleotide variant	NM_145691.4(ATPAF2):c.831C>T (p.Ser277=)	not provided [RCV002606802]	likely benign	17	18018588	18018588	Human		name
156211046	CV1955762	single nucleotide variant	NM_145691.4(ATPAF2):c.507C>T (p.Tyr169=)	not provided [RCV002575156]	likely benign	17	18021854	18021854	Human		name
156411475	CV1976326	single nucleotide variant	NM_145691.4(ATPAF2):c.597C>T (p.Tyr199=)	not provided [RCV002587503]	likely benign	17	18021764	18021764	Human		name
156337278	CV1997286	single nucleotide variant	NM_145691.4(ATPAF2):c.676C>T (p.Leu226=)	not provided [RCV002650134]	likely benign	17	18021179	18021179	Human		name
156342586	CV1998314	single nucleotide variant	NM_145691.4(ATPAF2):c.504A>G (p.Arg168=)	not provided [RCV002650395]	uncertain significance	17	18021857	18021857	Human		name
10409865	CV211807	single nucleotide variant	NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000305929]\|not provided [RCV000224495]\|not specified [RCV004020390]	likely benign\|uncertain significance	17	18038974	18038974	Human	1	name , alternate_id
155946145	CV2130238	single nucleotide variant	NM_145691.4(ATPAF2):c.642C>T (p.Leu214=)	not provided [RCV002971590]	likely benign	17	18021213	18021213	Human		name
155906599	CV2130816	single nucleotide variant	NM_145691.4(ATPAF2):c.80T>C (p.Met27Thr)	not provided [RCV002967749]	uncertain significance	17	18038934	18038934	Human		name
156268111	CV2167851	single nucleotide variant	NM_145691.4(ATPAF2):c.586C>T (p.Leu196=)	not provided [RCV003026888]	likely benign	17	18021775	18021775	Human		name
156040690	CV2187902	single nucleotide variant	NM_145691.4(ATPAF2):c.62G>C (p.Gly21Ala)	not provided [RCV003036556]	uncertain significance	17	18038952	18038952	Human		name
155926038	CV2287809	single nucleotide variant	NM_145691.4(ATPAF2):c.47T>C (p.Leu16Pro)	not specified [RCV004143253]	uncertain significance	17	18038967	18038967	Human		name
156450997	CV2402373	single nucleotide variant	NM_145691.4(ATPAF2):c.79A>T (p.Met27Leu)	not provided [RCV003123172]	uncertain significance	17	18038935	18038935	Human		name
329368580	CV2450369	single nucleotide variant	NM_145691.4(ATPAF2):c.65G>T (p.Gly22Val)	not specified [RCV004271442]	uncertain significance	17	18038949	18038949	Human		name
11640280	CV268473	single nucleotide variant	NM_145691.4(ATPAF2):c.699C>T (p.Ala233=)	ATPAF2-related disorder [RCV003957421]\|not provided [RCV000967443]\|not specified [RCV000334509]	benign\|likely benign	17	18021156	18021156	Human	1	name , trait , alternate_id
405184058	CV2920212	single nucleotide variant	NM_145691.4(ATPAF2):c.330A>T (p.Thr110=)	not provided [RCV003564199]	likely benign	17	18026411	18026411	Human		name
405123844	CV2942618	single nucleotide variant	NM_145691.4(ATPAF2):c.429G>A (p.Arg143=)	not provided [RCV003671758]	likely benign	17	18024698	18024698	Human		name
405012754	CV2990585	single nucleotide variant	NM_145691.4(ATPAF2):c.37C>A (p.Arg13Ser)	not provided [RCV003694104]	uncertain significance	17	18038977	18038977	Human		name
402524132	CV3011420	single nucleotide variant	NM_145691.4(ATPAF2):c.630A>G (p.Val210=)	not provided [RCV003716579]	likely benign	17	18021225	18021225	Human		name
405207608	CV3064521	single nucleotide variant	NM_145691.4(ATPAF2):c.441C>T (p.Pro147=)	ATPAF2-related disorder [RCV003956526]\|not provided [RCV003731490]	likely benign	17	18024686	18024686	Human	1	name , trait , alternate_id
404990818	CV3131946	single nucleotide variant	NM_145691.4(ATPAF2):c.804C>T (p.Ala268=)	not provided [RCV003827074]	likely benign	17	18018615	18018615	Human		name
402471835	CV3171647	single nucleotide variant	NM_145691.4(ATPAF2):c.426C>T (p.Tyr142=)	not provided [RCV003874431]	likely benign	17	18024701	18024701	Human		name
597795888	CV3620973	single nucleotide variant	NM_145691.4(ATPAF2):c.53G>C (p.Arg18Pro)	not specified [RCV004878325]	uncertain significance	17	18038961	18038961	Human		name
12848269	CV374864	single nucleotide variant	NM_145691.4(ATPAF2):c.705G>A (p.Leu235=)	not specified [RCV000444972]	likely benign	17	18021150	18021150	Human		name
597966425	CV3751574	single nucleotide variant	NM_145691.4(ATPAF2):c.747C>T (p.Gly249=)	not provided [RCV005082944]	likely benign	17	18018672	18018672	Human		name
597847817	CV3762088	single nucleotide variant	NM_145691.4(ATPAF2):c.489A>G (p.Glu163=)	not provided [RCV005087506]	likely benign	17	18024638	18024638	Human		name
597877325	CV3766772	single nucleotide variant	NM_145691.4(ATPAF2):c.864G>A (p.Lys288=)	not provided [RCV005108712]	uncertain significance	17	18018555	18018555	Human		name
597963756	CV3791924	single nucleotide variant	NM_145691.4(ATPAF2):c.798C>T (p.Thr266=)	not provided [RCV005139480]	likely benign	17	18018621	18018621	Human		name
598227902	CV3914113	single nucleotide variant	NM_145691.4(ATPAF2):c.68C>T (p.Pro23Leu)	not specified [RCV005294658]	likely benign	17	18038946	18038946	Human		name
14393504	CV610063	single nucleotide variant	NM_145691.4(ATPAF2):c.393C>T (p.Ala131=)	not provided [RCV000755843]	likely benign	17	18026348	18026348	Human		name
15106860	CV755669	single nucleotide variant	NM_145691.4(ATPAF2):c.546C>T (p.Pro182=)	not provided [RCV000915838]	likely benign	17	18021815	18021815	Human		name
15171833	CV771295	single nucleotide variant	NM_145691.4(ATPAF2):c.483C>A (p.Ile161=)	not provided [RCV000927984]	likely benign	17	18024644	18024644	Human		name
8556571	CV17034	single nucleotide variant	NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000002072]	pathogenic	17	18028276	18028276	Human	1	name , alternate_id
155264862	CV1704411	single nucleotide variant	NM_145691.4(ATPAF2):c.134A>C (p.Glu45Ala)	not provided [RCV002284627]	uncertain significance	17	18028659	18028659	Human		name
155797822	CV1860507	single nucleotide variant	NM_145691.4(ATPAF2):c.277G>C (p.Glu93Gln)	not provided [RCV002467149]	uncertain significance	17	18028279	18028279	Human		name
156418387	CV1911038	single nucleotide variant	NM_145691.4(ATPAF2):c.141G>T (p.Lys47Asn)	not provided [RCV002611573]\|not specified [RCV004069119]	uncertain significance	17	18028652	18028652	Human		name
156177848	CV2062144	duplication	NM_145691.4(ATPAF2):c.721dup (p.Glu241fs)	not provided [RCV002828203]	uncertain significance	17	18021133	18021134	Human		name
156304268	CV2070127	single nucleotide variant	NM_145691.4(ATPAF2):c.249C>A (p.Ser83Arg)	not provided [RCV002833776]	uncertain significance	17	18028307	18028307	Human		name
401898190	CV2790931	single nucleotide variant	NM_145691.4(ATPAF2):c.101C>G (p.Pro34Arg)	not specified [RCV004354567]	uncertain significance	17	18038913	18038913	Human		name
405225982	CV3068497	single nucleotide variant	NM_145691.4(ATPAF2):c.128C>T (p.Pro43Leu)	not provided [RCV003734053]	uncertain significance	17	18038886	18038886	Human		name
11626021	CV343635	single nucleotide variant	NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000405626]\|not provided [RCV003765867]	uncertain significance	17	18028306	18028306	Human	1	name , alternate_id
598129657	CV3887076	single nucleotide variant	NM_145691.4(ATPAF2):c.209A>G (p.Lys70Arg)	not provided [RCV005245136]	uncertain significance	17	18028347	18028347	Human		name
598122977	CV3890127	single nucleotide variant	NM_145691.4(ATPAF2):c.161G>C (p.Ser54Thr)	not provided [RCV005250646]	uncertain significance	17	18028632	18028632	Human		name
598227774	CV3914087	single nucleotide variant	NM_145691.4(ATPAF2):c.104C>T (p.Ser35Phe)	not specified [RCV005294636]	uncertain significance	17	18038910	18038910	Human		name
598227863	CV3914105	single nucleotide variant	NM_145691.4(ATPAF2):c.156T>G (p.Asn52Lys)	not specified [RCV005294650]	uncertain significance	17	18028637	18028637	Human		name
13518590	CV490339	single nucleotide variant	NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile)	not provided [RCV000597531]	conflicting interpretations of pathogenicity\|uncertain significance	17	18028315	18028315	Human		name
28902292	CV876917	single nucleotide variant	NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001125156]	uncertain significance	17	18038901	18038901	Human	1	name , alternate_id
126734376	CV1021602	single nucleotide variant	NM_145691.4(ATPAF2):c.713G>A (p.Arg238His)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001334583]\|not provided [RCV002546691]	uncertain significance	17	18021142	18021142	Human	1	name , alternate_id
8690220	CV140170	single nucleotide variant	NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	ATPAF2-related disorder [RCV003915234]\|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000999987]\|not provided [RCV000439151]\|not specified [RCV000123784]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	18021850	18021850	Human	1	name , trait , alternate_id
151787749	CV1416770	single nucleotide variant	NM_145691.4(ATPAF2):c.794G>A (p.Arg265His)	not provided [RCV001989764]\|not specified [RCV004877722]	uncertain significance	17	18018625	18018625	Human		name
151807647	CV1450176	single nucleotide variant	NM_145691.4(ATPAF2):c.635C>T (p.Ala212Val)	not provided [RCV001899647]	uncertain significance	17	18021220	18021220	Human		name
151723822	CV1459154	single nucleotide variant	NM_145691.4(ATPAF2):c.821A>G (p.His274Arg)	not provided [RCV002020533]\|not specified [RCV004046720]	uncertain significance	17	18018598	18018598	Human		name
153001289	CV1679956	single nucleotide variant	NM_145691.4(ATPAF2):c.451G>A (p.Val151Met)	not provided [RCV002251635]\|not specified [RCV004877733]	uncertain significance	17	18024676	18024676	Human		name
153348129	CV1695178	single nucleotide variant	NM_145691.4(ATPAF2):c.793C>T (p.Arg265Cys)	not provided [RCV002279109]	uncertain significance	17	18018626	18018626	Human		name
155266701	CV1699263	single nucleotide variant	NM_145691.4(ATPAF2):c.790G>A (p.Ala264Thr)	not provided [RCV002283058]	uncertain significance	17	18018629	18018629	Human		name
155947473	CV1872396	single nucleotide variant	NM_145691.4(ATPAF2):c.508G>A (p.Gly170Ser)	not provided [RCV003073941]	uncertain significance	17	18021853	18021853	Human		name
156139676	CV1898446	single nucleotide variant	NM_145691.4(ATPAF2):c.565C>T (p.Arg189Trp)	not provided [RCV003082155]	uncertain significance	17	18021796	18021796	Human		name
156417199	CV1915777	single nucleotide variant	NM_145691.4(ATPAF2):c.832G>A (p.Glu278Lys)	not provided [RCV002610592]\|not specified [RCV004676151]	uncertain significance	17	18018587	18018587	Human		name
156374075	CV1917329	single nucleotide variant	NM_145691.4(ATPAF2):c.313A>G (p.Thr105Ala)	not provided [RCV002603436]	uncertain significance	17	18028243	18028243	Human		name
156446579	CV1947923	single nucleotide variant	NM_145691.4(ATPAF2):c.799G>A (p.Ala267Thr)	not provided [RCV003118089]\|not specified [RCV004244606]	uncertain significance	17	18018620	18018620	Human		name
155973024	CV1974780	single nucleotide variant	NM_145691.4(ATPAF2):c.650T>C (p.Met217Thr)	not provided [RCV002617267]	uncertain significance	17	18021205	18021205	Human		name
156396497	CV1985203	single nucleotide variant	NM_145691.4(ATPAF2):c.529A>G (p.Thr177Ala)	not provided [RCV002635529]	uncertain significance	17	18021832	18021832	Human		name
155955506	CV2014275	single nucleotide variant	NM_145691.4(ATPAF2):c.649A>G (p.Met217Val)	not provided [RCV002686244]	uncertain significance	17	18021206	18021206	Human		name
156174229	CV2016305	single nucleotide variant	NM_145691.4(ATPAF2):c.317T>C (p.Met106Thr)	not provided [RCV002710576]	uncertain significance	17	18028239	18028239	Human		name
156117763	CV2017222	single nucleotide variant	NM_145691.4(ATPAF2):c.487G>A (p.Glu163Lys)	not provided [RCV002740081]	uncertain significance	17	18024640	18024640	Human		name
156167983	CV2019831	single nucleotide variant	NM_145691.4(ATPAF2):c.855G>T (p.Lys285Asn)	not provided [RCV002710396]	uncertain significance	17	18018564	18018564	Human		name
10409933	CV211800	single nucleotide variant	NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001334584]\|not provided [RCV000197150]	uncertain significance	17	18018617	18018617	Human	1	name , alternate_id
10411647	CV211801	single nucleotide variant	NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001838990]\|not provided [RCV000200702]	likely pathogenic\|uncertain significance	17	18018634	18018634	Human	1	name , alternate_id
10410697	CV211802	single nucleotide variant	NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001122369]\|not provided [RCV000899323]\|not specified [RCV000198699]	benign\|likely benign	17	18021133	18021133	Human	1	name , alternate_id
10409463	CV211803	single nucleotide variant	NM_145691.4(ATPAF2):c.627T>G (p.Phe209Leu)	not specified [RCV000196158]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	18021228	18021228	Human		name
10410421	CV211804	single nucleotide variant	NM_145691.4(ATPAF2):c.566G>C (p.Arg189Pro)	not provided [RCV000198144]	uncertain significance	17	18021795	18021795	Human		name
10411206	CV211805	single nucleotide variant	NM_145691.4(ATPAF2):c.566G>A (p.Arg189Gln)	not provided [RCV001787327]	likely benign\|uncertain significance	17	18021795	18021795	Human		name
10410838	CV211806	single nucleotide variant	NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000288052]\|not provided [RCV000199001]	likely pathogenic\|uncertain significance	17	18026352	18026352	Human	1	name , alternate_id
155901668	CV2126974	single nucleotide variant	NM_145691.4(ATPAF2):c.418A>G (p.Ile140Val)	not provided [RCV002967460]	uncertain significance	17	18026323	18026323	Human		name
156384931	CV2128356	single nucleotide variant	NM_145691.4(ATPAF2):c.577G>T (p.Val193Phe)	not provided [RCV002943417]	uncertain significance	17	18021784	18021784	Human		name
155939545	CV2142816	single nucleotide variant	NM_145691.4(ATPAF2):c.362A>G (p.Gln121Arg)	not provided [RCV002993961]	uncertain significance	17	18026379	18026379	Human		name
155955498	CV2143962	single nucleotide variant	NM_145691.4(ATPAF2):c.394G>A (p.Val132Met)	not provided [RCV002994872]\|not specified [RCV004068442]	uncertain significance	17	18026347	18026347	Human		name
155986438	CV2282579	single nucleotide variant	NM_145691.4(ATPAF2):c.577G>C (p.Val193Leu)	not specified [RCV004135146]	uncertain significance	17	18021784	18021784	Human		name
156279674	CV2297739	single nucleotide variant	NM_145691.4(ATPAF2):c.863A>G (p.Lys288Arg)	not specified [RCV004155416]	uncertain significance	17	18018556	18018556	Human		name
156439898	CV2401577	single nucleotide variant	NM_145691.4(ATPAF2):c.442G>A (p.Glu148Lys)	not provided [RCV003109865]	uncertain significance	17	18024685	18024685	Human		name
243064881	CV2412016	single nucleotide variant	NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV003143675]	uncertain significance	17	18021850	18021850	Human	1	name , alternate_id
329375983	CV2431688	single nucleotide variant	NM_145691.4(ATPAF2):c.379C>G (p.Leu127Val)	not specified [RCV004248856]	uncertain significance	17	18026362	18026362	Human		name
405206822	CV2874019	single nucleotide variant	NM_145691.4(ATPAF2):c.307T>A (p.Tyr103Asn)	not provided [RCV003552048]	uncertain significance	17	18028249	18028249	Human		name
405179183	CV3027655	single nucleotide variant	NM_145691.4(ATPAF2):c.540G>A (p.Met180Ile)	not provided [RCV003705368]	uncertain significance	17	18021821	18021821	Human		name
405103325	CV3119564	single nucleotide variant	NM_145691.4(ATPAF2):c.712C>T (p.Arg238Cys)	not provided [RCV003811826]\|not specified [RCV004366739]	uncertain significance	17	18021143	18021143	Human		name
405024440	CV3139485	single nucleotide variant	NM_145691.4(ATPAF2):c.679C>T (p.Arg227Cys)	not provided [RCV003830128]	uncertain significance	17	18021176	18021176	Human		name
405677898	CV3293975	single nucleotide variant	NM_145691.4(ATPAF2):c.378G>T (p.Gln126His)	not specified [RCV004421017]	uncertain significance	17	18026363	18026363	Human		name
405677903	CV3293976	single nucleotide variant	NM_145691.4(ATPAF2):c.577G>A (p.Val193Ile)	not specified [RCV004421018]	uncertain significance	17	18021784	18021784	Human		name
11624375	CV337355	single nucleotide variant	NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000384895]\|not provided [RCV002274015]	conflicting interpretations of pathogenicity\|uncertain significance	17	18021221	18021221	Human	1	name , alternate_id
407462189	CV3493039	single nucleotide variant	NM_145691.4(ATPAF2):c.569A>T (p.Glu190Val)	not specified [RCV004687879]	uncertain significance	17	18021792	18021792	Human		name
408386007	CV3521958	single nucleotide variant	NM_145691.4(ATPAF2):c.700G>A (p.Val234Met)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV004760283]	uncertain significance	17	18021155	18021155	Human	1	name , alternate_id
597795862	CV3620964	single nucleotide variant	NM_145691.4(ATPAF2):c.472T>C (p.Trp158Arg)	not specified [RCV004878317]	uncertain significance	17	18024655	18024655	Human		name
597795917	CV3620982	single nucleotide variant	NM_145691.4(ATPAF2):c.844G>A (p.Val282Ile)	not specified [RCV004878334]	uncertain significance	17	18018575	18018575	Human		name
597795949	CV3620992	single nucleotide variant	NM_145691.4(ATPAF2):c.672T>G (p.Ile224Met)	not specified [RCV004878344]	likely benign	17	18021183	18021183	Human		name
597795986	CV3621003	single nucleotide variant	NM_145691.4(ATPAF2):c.745G>A (p.Gly249Ser)	not specified [RCV004878355]	uncertain significance	17	18018674	18018674	Human		name
597795998	CV3621008	single nucleotide variant	NM_145691.4(ATPAF2):c.614A>G (p.Gln205Arg)	not specified [RCV004878359]	uncertain significance	17	18021747	18021747	Human		name
597796015	CV3621016	single nucleotide variant	NM_145691.4(ATPAF2):c.298A>G (p.Thr100Ala)	not specified [RCV004878364]	uncertain significance	17	18028258	18028258	Human		name
597796050	CV3621027	single nucleotide variant	NM_145691.4(ATPAF2):c.359C>A (p.Thr120Asn)	not specified [RCV004878375]	uncertain significance	17	18026382	18026382	Human		name
597796083	CV3621037	single nucleotide variant	NM_145691.4(ATPAF2):c.485T>G (p.Ile162Ser)	not specified [RCV004878385]	uncertain significance	17	18024642	18024642	Human		name
597796340	CV3621047	single nucleotide variant	NM_145691.4(ATPAF2):c.692A>G (p.Glu231Gly)	not specified [RCV004878395]	uncertain significance	17	18021163	18021163	Human		name
597796322	CV3621058	single nucleotide variant	NM_145691.4(ATPAF2):c.779A>G (p.Gln260Arg)	not specified [RCV004878401]	uncertain significance	17	18018640	18018640	Human		name
597833180	CV3734912	single nucleotide variant	NM_145691.4(ATPAF2):c.788G>A (p.Arg263Gln)	not provided [RCV005054645]	uncertain significance	17	18018631	18018631	Human		name
597837033	CV3736501	single nucleotide variant	NM_145691.4(ATPAF2):c.820C>T (p.His274Tyr)	not provided [RCV005064174]	uncertain significance	17	18018599	18018599	Human		name
597880013	CV3763640	single nucleotide variant	NM_145691.4(ATPAF2):c.468T>A (p.Asn156Lys)	not provided [RCV005109038]	uncertain significance	17	18024659	18024659	Human		name
598227826	CV3914096	single nucleotide variant	NM_145691.4(ATPAF2):c.416C>T (p.Thr139Ile)	not specified [RCV005294644]	uncertain significance	17	18026325	18026325	Human		name
13611214	CV514710	single nucleotide variant	NM_145691.4(ATPAF2):c.778C>T (p.Gln260Ter)	not provided [RCV000627381]	uncertain significance	17	18018641	18018641	Human		name
14394061	CV610061	single nucleotide variant	NM_145691.4(ATPAF2):c.680G>A (p.Arg227His)	not provided [RCV000757025]\|not specified [RCV004027138]	likely benign\|uncertain significance	17	18021175	18021175	Human		name
14695716	CV622915	single nucleotide variant	NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV000785950]	uncertain significance	17	18026329	18026329	Human	1	name , alternate_id
15152767	CV755668	single nucleotide variant	NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser)	not provided [RCV000923935]\|not specified [RCV004678865]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	18018614	18018614	Human		name
38597099	CV801913	single nucleotide variant	NM_145691.4(ATPAF2):c.868T>C (p.Ter290Arg)	Microcephaly [RCV001252933]	uncertain significance	17	18018551	18018551	Human	2	name
28902286	CV876916	single nucleotide variant	NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [RCV001125154]\|not provided [RCV003425941]	likely benign\|uncertain significance	17	18021796	18021796	Human	1	name , alternate_id
156224863	CV1956608	microsatellite	NM_145691.4(ATPAF2):c.842_843del (p.Thr281fs)	not provided [RCV002575664]	uncertain significance	17	18018576	18018577	Human		name
14393503	CV610062	deletion	NM_145691.4(ATPAF2):c.402_404del (p.Phe134del)	not provided [RCV000755842]	uncertain significance	17	18026337	18026339	Human		name

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