Atp6v0a1 Variant Search Result - Rat Genome Database

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99 records found for search term Atp6v0a1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155264741	CV1690779	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.196+1G>A	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV002271324]	pathogenic	17	42466508	42466508	Human	1	name
405692021	CV3227626	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.118-2A>G	Developmental and epileptic encephalopathy 104 [RCV003991972]	likely pathogenic	17	42466427	42466427	Human	1	name
596927057	CV3536453	deletion	NM_001130021.3(ATP6V0A1):c.118-1del	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV004789861]	likely pathogenic	17	42466428	42466428	Human	1	name
152978536	CV1671704	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1470-6T>C	not provided [RCV002227809]	uncertain significance	17	42495620	42495620	Human		name
9686947	CV171596	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1023+1G>T	Prostate cancer [RCV000149166]	uncertain significance	17	42487368	42487368	Human	2	name
405051460	CV3081702	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2112+16G>A	not provided [RCV003740646]	uncertain significance	17	42507643	42507643	Human		name
8585357	CV119943	single nucleotide variant	NM_001130020.1(ATP6V0A1):c.117+1662G>T	Lung cancer [RCV000100463]	uncertain significance	17	42462673	42462673	Human		name
156288605	CV2370673	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.17G>A (p.Arg6Gln)	Inborn genetic diseases [RCV002670653]	uncertain significance	17	42460911	42460911	Human	1	name
150547538	CV1316073	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.53A>T (p.Gln18Leu)	Global developmental delay [RCV001785349]	uncertain significance	17	42460947	42460947	Human	2	name
153305066	CV1690784	deletion	NM_001130021.3(ATP6V0A1):c.445del (p.Glu149fs)	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV002271329]	pathogenic	17	42477680	42477680	Human	1	name
401917277	CV2829768	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.296C>G (p.Ala99Gly)	not provided [RCV003443812]	uncertain significance	17	42470091	42470091	Human		name
401917395	CV2829840	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.181A>G (p.Met61Val)	not provided [RCV003443884]	uncertain significance	17	42466492	42466492	Human		name
405654587	CV3228264	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.144A>C (p.Gln48His)	not specified [RCV003994999]	uncertain significance	17	42466455	42466455	Human		name
408384412	CV3501490	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.287A>T (p.Asp96Val)	Developmental and epileptic encephalopathy 104 [RCV004731686]	uncertain significance	17	42468100	42468100	Human	1	name
596927033	CV3536442	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1023G>A (p.Thr341=)	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV004789850]	uncertain significance	17	42487367	42487367	Human	1	name
597628543	CV3613893	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.103G>A (p.Val35Ile)	Inborn genetic diseases [RCV004966872]	uncertain significance	17	42460997	42460997	Human	1	name
617151270	CV4021800	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.213G>C (p.Glu71Asp)	not provided [RCV005426761]	uncertain significance	17	42468026	42468026	Human		name
155731470	CV1780978	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.593G>A (p.Arg198Gln)	not provided [RCV002308766]	uncertain significance	17	42478549	42478549	Human		name
155797325	CV1859285	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.574C>T (p.Arg192Trp)	not provided [RCV002464913]	uncertain significance	17	42478530	42478530	Human		name
329356493	CV2430777	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.428C>T (p.Ala143Val)	Inborn genetic diseases [RCV003178240]	uncertain significance	17	42477664	42477664	Human	1	name
329953862	CV2669200	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.312T>G (p.Ile104Met)	not provided [RCV003231704]	uncertain significance	17	42470107	42470107	Human		name
405666935	CV3297629	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.411A>C (p.Gln137His)	Inborn genetic diseases [RCV004418707]	uncertain significance	17	42470206	42470206	Human	1	name
405666942	CV3297630	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.528C>A (p.Asn176Lys)	Inborn genetic diseases [RCV004418708]	uncertain significance	17	42478484	42478484	Human	1	name
405666949	CV3297631	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.976C>T (p.Pro326Ser)	Inborn genetic diseases [RCV004418709]	uncertain significance	17	42487320	42487320	Human	1	name
407528096	CV3489009	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.377C>A (p.Thr126Asn)	Inborn genetic diseases [RCV004680261]	uncertain significance	17	42470172	42470172	Human	1	name
407528120	CV3489019	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.536G>A (p.Arg179His)	Inborn genetic diseases [RCV004680269]	uncertain significance	17	42478492	42478492	Human	1	name
407460118	CV3496939	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.985G>A (p.Asp329Asn)	Developmental and epileptic encephalopathy 104 [RCV004698754]	uncertain significance	17	42487329	42487329	Human	1	name
408367767	CV3515466	duplication	NM_001130021.3(ATP6V0A1):c.1697dup (p.Asn567fs)	ATP6V0A1-related condition [RCV004759220]	uncertain significance	17	42500723	42500724	Human		name , trait
596922762	CV3537386	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.482G>T (p.Gly161Val)	not provided [RCV004787356]	uncertain significance	17	42477718	42477718	Human		name
596945129	CV3543735	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.682C>G (p.Gln228Glu)	not provided [RCV004801857]	uncertain significance	17	42480715	42480715	Human		name
597656209	CV3552343	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.664A>G (p.Ile222Val)	Developmental and epileptic encephalopathy 104 [RCV004821201]	uncertain significance	17	42480697	42480697	Human	1	name
597724569	CV3552561	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.628G>C (p.Val210Leu)	Developmental and epileptic encephalopathy 104 [RCV004994491]	uncertain significance	17	42478584	42478584	Human	1	name
598123397	CV3890323	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.328G>C (p.Glu110Gln)	not provided [RCV005250842]	uncertain significance	17	42470123	42470123	Human		name
598196998	CV3924103	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.523A>G (p.Ile175Val)	Inborn genetic diseases [RCV005289520]	uncertain significance	17	42478479	42478479	Human	1	name
598197052	CV3924112	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.640T>C (p.Tyr214His)	Inborn genetic diseases [RCV005289528]	uncertain significance	17	42480673	42480673	Human	1	name
598197176	CV3924135	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.869T>C (p.Ile290Thr)	Inborn genetic diseases [RCV005289545]	uncertain significance	17	42487213	42487213	Human	1	name
616938732	CV4015122	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.565C>T (p.Arg189Trp)	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV005412139]	uncertain significance	17	42478521	42478521	Human	1	name
617149928	CV4019014	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.637G>A (p.Asp213Asn)	not provided [RCV005423422]	uncertain significance	17	42480670	42480670	Human		name
152978318	CV1671511	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1649T>C (p.Phe550Ser)	Inborn genetic diseases [RCV003093898]\|not provided [RCV002227616]	uncertain significance	17	42499012	42499012	Human	1	name
155264738	CV1690776	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1513G>C (p.Ala505Pro)	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV002271321]	pathogenic	17	42495669	42495669	Human	1	name
155264740	CV1690778	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1579A>G (p.Asn527Asp)	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV002271323]	pathogenic	17	42498942	42498942	Human	1	name
155264742	CV1690780	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1429T>C (p.Ser477Pro)	Developmental and epileptic encephalopathy 104 [RCV002271325]	pathogenic	17	42495148	42495148	Human	1	name
155264743	CV1690781	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1631G>A (p.Gly544Asp)	Developmental and epileptic encephalopathy 104 [RCV002271326]	pathogenic	17	42498994	42498994	Human	1	name
155264617	CV1690782	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2411G>A (p.Arg804His)	Developmental and epileptic encephalopathy 104 [RCV002271327]\|Neurodevelopmental disorder with epilepsy and brain atrophy [RCV002284231]	pathogenic	17	42514451	42514451	Human	2	name
155644196	CV1706986	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2155C>T (p.His719Tyr)	not provided [RCV002290941]	uncertain significance	17	42513885	42513885	Human		name
155803588	CV1858150	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1310A>G (p.Asn437Ser)	not provided [RCV002462459]	uncertain significance	17	42494469	42494469	Human		name
155803755	CV1858321	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1669T>C (p.Phe557Leu)	not provided [RCV002462630]	uncertain significance	17	42499032	42499032	Human		name
155796786	CV1859147	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1231G>A (p.Gly411Ser)	Inborn genetic diseases [RCV004067547]\|not provided [RCV002464775]	uncertain significance	17	42494390	42494390	Human	1	name
156077186	CV2198216	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1963C>T (p.Pro655Ser)	Inborn genetic diseases [RCV002660576]\|not provided [RCV003322932]	uncertain significance	17	42501263	42501263	Human	1	name
155925468	CV2211838	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1115A>G (p.Tyr372Cys)	Inborn genetic diseases [RCV002683443]	uncertain significance	17	42490578	42490578	Human	1	name
155912901	CV2245685	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1976G>A (p.Arg659His)	Inborn genetic diseases [RCV002771809]\|not provided [RCV003322934]	uncertain significance	17	42501276	42501276	Human	1	name
156186676	CV2292408	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1445G>A (p.Arg482Gln)	Inborn genetic diseases [RCV002873992]	uncertain significance	17	42495164	42495164	Human	1	name
156071809	CV2328636	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2359G>A (p.Val787Met)	Inborn genetic diseases [RCV002912390]	uncertain significance	17	42514399	42514399	Human	1	name
156056487	CV2371087	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1478C>T (p.Thr493Met)	Inborn genetic diseases [RCV002693155]	uncertain significance	17	42495634	42495634	Human	1	name
156402637	CV2371338	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2320G>A (p.Val774Met)	Inborn genetic diseases [RCV002657553]	uncertain significance	17	42514360	42514360	Human	1	name
155952700	CV2393816	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1879A>G (p.Met627Val)	Inborn genetic diseases [RCV002753213]	uncertain significance	17	42500906	42500906	Human	1	name
401797961	CV2739157	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1483C>T (p.Arg495Trp)	not provided [RCV003318805]	uncertain significance	17	42495639	42495639	Human		name
401828036	CV2744410	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1508A>G (p.Asn503Ser)	not provided [RCV003327807]	uncertain significance	17	42495664	42495664	Human		name
401828044	CV2744418	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1717A>C (p.Ile573Leu)	not provided [RCV003327815]	uncertain significance	17	42500744	42500744	Human		name
401914294	CV2811365	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1688A>G (p.Lys563Arg)	not provided [RCV003428280]	uncertain significance	17	42500715	42500715	Human		name
405049807	CV3081502	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2381A>T (p.Glu794Val)	not provided [RCV003740514]	likely pathogenic	17	42514421	42514421	Human		name
405706368	CV3225236	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1949T>C (p.Met650Thr)	Developmental and epileptic encephalopathy 104 [RCV003990290]	uncertain significance	17	42501249	42501249	Human	1	name
405701111	CV3225936	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2492G>A (p.Arg831Gln)	Developmental and epileptic encephalopathy 104 [RCV003989375]	uncertain significance	17	42521098	42521098	Human	1	name
405666912	CV3297625	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1269G>A (p.Met423Ile)	Inborn genetic diseases [RCV004418703]	uncertain significance	17	42494428	42494428	Human	1	name
405666918	CV3297626	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1286G>A (p.Arg429Gln)	Inborn genetic diseases [RCV004418704]	uncertain significance	17	42494445	42494445	Human	1	name
405666924	CV3297627	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1315A>G (p.Met439Val)	Inborn genetic diseases [RCV004418705]	uncertain significance	17	42495034	42495034	Human	1	name
405666929	CV3297628	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1979G>A (p.Arg660His)	Inborn genetic diseases [RCV004418706]	likely benign	17	42501279	42501279	Human	1	name
407528059	CV3488995	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2435A>G (p.Asn812Ser)	Inborn genetic diseases [RCV004680248]	uncertain significance	17	42521041	42521041	Human	1	name
407528083	CV3489003	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1841A>G (p.Asn614Ser)	Inborn genetic diseases [RCV004680256]	uncertain significance	17	42500868	42500868	Human	1	name
408383062	CV3504643	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1199C>T (p.Pro400Leu)	ATP6V0A1-related condition [RCV004730386]	uncertain significance	17	42494358	42494358	Human		name , trait
408388417	CV3520787	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1355T>G (p.Leu452Trp)	not provided [RCV004761620]	uncertain significance	17	42495074	42495074	Human		name
408387163	CV3524426	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2438A>C (p.Lys813Thr)	not provided [RCV004768300]	uncertain significance	17	42521044	42521044	Human		name
408393980	CV3526311	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1471G>A (p.Glu491Lys)	Developmental and epileptic encephalopathy 104 [RCV004771743]	uncertain significance	17	42495627	42495627	Human	1	name
408385404	CV3527009	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1166T>G (p.Ile389Arg)	not provided [RCV004772322]	uncertain significance	17	42490629	42490629	Human		name
408390661	CV3527667	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1168A>G (p.Asn390Asp)	not provided [RCV004774935]	uncertain significance	17	42490631	42490631	Human		name
408386243	CV3528838	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1570A>G (p.Ile524Val)	not provided [RCV004772671]	uncertain significance	17	42498933	42498933	Human		name
596926527	CV3530829	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2203A>G (p.Thr735Ala)	not provided [RCV004778414]	uncertain significance	17	42513933	42513933	Human		name
596921726	CV3535352	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1230C>G (p.Phe410Leu)	Developmental and epileptic encephalopathy 104 [RCV004784907]	uncertain significance	17	42494389	42494389	Human	1	name
597623047	CV3552404	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1160G>A (p.Arg387Gln)	Developmental and epileptic encephalopathy 104 [RCV004821350]	uncertain significance	17	42490623	42490623	Human	1	name
597628565	CV3613899	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2368C>A (p.Leu790Ile)	Inborn genetic diseases [RCV004966878]	uncertain significance	17	42514408	42514408	Human	1	name
597628600	CV3613910	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1175C>G (p.Ala392Gly)	Inborn genetic diseases [RCV004966885]	uncertain significance	17	42494334	42494334	Human	1	name
597668202	CV3732750	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1354T>G (p.Leu452Val)	not provided [RCV005004582]	uncertain significance	17	42495073	42495073	Human		name
597855110	CV3762644	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1013G>A (p.Arg338Lys)	not specified [RCV005088562]	uncertain significance	17	42487357	42487357	Human		name
597831912	CV3863989	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2471C>G (p.Pro824Arg)	Developmental and epileptic encephalopathy 104 [RCV005208404]	uncertain significance	17	42521077	42521077	Human	1	name
598126888	CV3882347	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1505T>C (p.Leu502Pro)	not provided [RCV005233898]	uncertain significance	17	42495661	42495661	Human		name
598125246	CV3883890	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1739C>A (p.Thr580Asn)	not provided [RCV005236245]	uncertain significance	17	42500766	42500766	Human		name
598125968	CV3886000	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2456G>A (p.Gly819Asp)	not provided [RCV005241803]	likely pathogenic	17	42521062	42521062	Human		name
598224828	CV3894170	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1799A>G (p.His600Arg)	not provided [RCV005257413]	uncertain significance	17	42500826	42500826	Human		name
598185749	CV3913719	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1665T>G (p.Ser555Arg)	Inborn genetic diseases [RCV005287484]	uncertain significance	17	42499028	42499028	Human	1	name
598185788	CV3924094	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1496T>C (p.Val499Ala)	Inborn genetic diseases [RCV005287490]	likely benign	17	42495652	42495652	Human	1	name
598197105	CV3924122	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1957T>C (p.Phe653Leu)	Inborn genetic diseases [RCV005289536]	uncertain significance	17	42501257	42501257	Human	1	name
598176399	CV3924131	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1543C>A (p.Pro515Thr)	Inborn genetic diseases [RCV005285632]	uncertain significance	17	42495699	42495699	Human	1	name
616938908	CV4015123	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1565G>A (p.Trp522Ter)	Neurodevelopmental disorder with epilepsy and brain atrophy [RCV005412140]	uncertain significance	17	42498928	42498928	Human	1	name
616936143	CV4016215	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1925T>A (p.Val642Asp)	not provided [RCV005415081]	uncertain significance	17	42501225	42501225	Human		name
617153613	CV4016687	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1366T>C (p.Phe456Leu)	not provided [RCV005415784]	uncertain significance	17	42495085	42495085	Human		name
617153731	CV4016808	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1189A>T (p.Ile397Phe)	not provided [RCV005415905]	uncertain significance	17	42494348	42494348	Human		name
13798363	CV551320	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	Autism [RCV002226479]\|Developmental and epileptic encephalopathy 104 [RCV002271565]\|Global developmental delay [RCV002226480]\|Inborn genetic diseases [RCV001267573]\|not provided [RCV000678272]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	42513949	42513949	Human	15	name
15174168	CV679137	single nucleotide variant	NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)	Esophageal atresia [RCV000984719]	uncertain significance	17	42495059	42495059	Human	2	name
598203810	CV3896534	deletion	NM_001130021.3(ATP6V0A1):c.2004+1512_2004+1521del	Developmental and epileptic encephalopathy 104 [RCV005356762]	uncertain significance	17	42502812	42502821	Human	1	name

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