Pik3r5 Variant Search Result - Rat Genome Database

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125 records found for search term Pik3r5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151233881	CV1317534	single nucleotide variant	NM_001142633.3(PIK3R5):c.657+41T>C	Ataxia with oculomotor apraxia type 3 [RCV001788915]\|not provided [RCV004710352]	benign	17	8890697	8890697	Human	1	name
151233882	CV1317535	single nucleotide variant	NM_001142633.3(PIK3R5):c.205-21C>T	Ataxia with oculomotor apraxia type 3 [RCV001788916]\|not provided [RCV004710353]	benign	17	8905758	8905758	Human	1	name
405258156	CV3208204	single nucleotide variant	NM_001142633.3(PIK3R5):c.1905+5G>A	PIK3R5-related disorder [RCV003941642]\|not specified [RCV005064825]	likely benign\|uncertain significance	17	8887091	8887091	Human	1	name , trait , alternate_id
405270905	CV3212141	single nucleotide variant	NM_001142633.3(PIK3R5):c.895+10C>T	PIK3R5-related disorder [RCV003949507]	likely benign	17	8889129	8889129	Human		name , trait , alternate_id
151233879	CV1317532	single nucleotide variant	NM_001142633.3(PIK3R5):c.2496-46A>G	Ataxia with oculomotor apraxia type 3 [RCV001788913]\|not provided [RCV004710350]	benign	17	8880832	8880832	Human	1	name
151233880	CV1317533	single nucleotide variant	NM_001142633.3(PIK3R5):c.2383-27T>C	Ataxia with oculomotor apraxia type 3 [RCV001788914]\|not provided [RCV004710351]	benign	17	8881044	8881044	Human	1	name
11543354	CV256554	single nucleotide variant	NM_001142633.3(PIK3R5):c.2299+18T>G	Ataxia with oculomotor apraxia type 3 [RCV001788103]\|not provided [RCV004709442]\|not specified [RCV000242347]	benign	17	8881770	8881770	Human	1	name
11549559	CV256555	single nucleotide variant	NM_001142633.3(PIK3R5):c.2299+13G>A	Ataxia with oculomotor apraxia type 3 [RCV001788102]\|not provided [RCV004709441]\|not specified [RCV000250574]	benign	17	8881775	8881775	Human	1	name
15177944	CV779842	single nucleotide variant	NM_001142633.3(PIK3R5):c.2205+10G>A	not provided [RCV000973547]	benign	17	8884697	8884697	Human		name
8585568	CV120155	single nucleotide variant	NM_001142633.2(PIK3R5):c.-14+18054C>T	Lung cancer [RCV000100675]	uncertain significance	17	8947542	8947542	Human		name
405291675	CV3206000	single nucleotide variant	NM_001142633.3(PIK3R5):c.18G>A (p.Thr6=)	PIK3R5-related disorder [RCV003964095]	likely benign	17	8911477	8911477	Human		name , trait , alternate_id
15152387	CV715873	single nucleotide variant	NM_001142633.3(PIK3R5):c.15C>T (p.Ala5=)	not provided [RCV000968340]	benign	17	8911480	8911480	Human		name
329952699	CV2670041	single nucleotide variant	NM_001142633.3(PIK3R5):c.13G>A (p.Ala5Thr)	Ataxia with oculomotor apraxia type 3 [RCV003233253]	not provided	17	8911482	8911482	Human		name
617150077	CV4021622	single nucleotide variant	NM_001142633.3(PIK3R5):c.276A>G (p.Thr92=)	not provided [RCV005425591]	likely benign	17	8904913	8904913	Human		name
15168600	CV715872	single nucleotide variant	NM_001142633.3(PIK3R5):c.156G>A (p.Pro52=)	not provided [RCV000971647]	likely benign	17	8909122	8909122	Human		name
8660313	CV135340	single nucleotide variant	NM_001142633.3(PIK3R5):c.837C>T (p.His279=)	Ataxia with oculomotor apraxia type 3 [RCV001787926]\|not provided [RCV004709271]\|not specified [RCV000117914]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	8889197	8889197	Human	1	name
8660314	CV135341	single nucleotide variant	NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=)	Ataxia with oculomotor apraxia type 3 [RCV001787927]\|not provided [RCV004709272]\|not specified [RCV000117915]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	8888854	8888854	Human	1	name
155977436	CV2342890	single nucleotide variant	NM_001142633.3(PIK3R5):c.86G>A (p.Arg29His)	not specified [RCV004189924]	uncertain significance	17	8911409	8911409	Human		name
405294606	CV3204194	single nucleotide variant	NM_001142633.3(PIK3R5):c.861G>A (p.Arg287=)	PIK3R5-related disorder [RCV003934553]	likely benign	17	8889173	8889173	Human		name , trait , alternate_id
405260782	CV3204301	single nucleotide variant	NM_001142633.3(PIK3R5):c.780G>C (p.Val260=)	PIK3R5-related disorder [RCV003944139]\|not provided [RCV005426281]	likely benign	17	8890004	8890004	Human	1	name , trait , alternate_id
597740790	CV3575947	single nucleotide variant	NM_001142633.3(PIK3R5):c.85C>T (p.Arg29Cys)	not specified [RCV004844568]	uncertain significance	17	8911410	8911410	Human		name
597767372	CV3575949	single nucleotide variant	NM_001142633.3(PIK3R5):c.70C>T (p.Leu24Phe)	not specified [RCV004850453]	uncertain significance	17	8911425	8911425	Human		name
15179548	CV727622	single nucleotide variant	NM_001142633.3(PIK3R5):c.855C>T (p.Val285=)	not provided [RCV000885315]	benign	17	8889179	8889179	Human		name
15198479	CV727623	single nucleotide variant	NM_001142633.3(PIK3R5):c.597C>T (p.His199=)	not provided [RCV000890369]	benign\|likely benign	17	8890798	8890798	Human		name
8660311	CV135338	single nucleotide variant	NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=)	Ataxia with oculomotor apraxia type 3 [RCV001787924]\|not provided [RCV004709269]\|not specified [RCV000117912]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	8888776	8888776	Human	1	name
8660312	CV135339	single nucleotide variant	NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=)	Ataxia with oculomotor apraxia type 3 [RCV001787925]\|not provided [RCV004709270]\|not specified [RCV000117913]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	8888712	8888712	Human	1	name
8660524	CV135583	single nucleotide variant	NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=)	Ataxia with oculomotor apraxia type 3 [RCV001787928]\|not provided [RCV004709276]\|not specified [RCV000118165]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	8888686	8888686	Human	1	name
156397782	CV2197565	single nucleotide variant	NM_001142633.3(PIK3R5):c.166C>T (p.Leu56Phe)	not specified [RCV004081285]	uncertain significance	17	8909112	8909112	Human		name
156038479	CV2278934	single nucleotide variant	NM_001142633.3(PIK3R5):c.107G>C (p.Gly36Ala)	not specified [RCV004145628]	uncertain significance	17	8909171	8909171	Human		name
11545934	CV256556	single nucleotide variant	NM_001142633.3(PIK3R5):c.1572C>T (p.Ser524=)	not specified [RCV000245808]	likely benign	17	8888215	8888215	Human		name
401914025	CV2814937	single nucleotide variant	NM_001142633.3(PIK3R5):c.2259C>T (p.Ser753=)	not provided [RCV003428137]	likely benign	17	8881828	8881828	Human		name
401903829	CV2814938	single nucleotide variant	NM_001142633.3(PIK3R5):c.1548G>A (p.Thr516=)	not provided [RCV003419651]	likely benign	17	8888239	8888239	Human		name
405294811	CV3212072	single nucleotide variant	NM_001142633.3(PIK3R5):c.2361A>G (p.Lys787=)	PIK3R5-related disorder [RCV003934723]\|not provided [RCV004704937]	likely benign	17	8881651	8881651	Human	1	name , trait , alternate_id
407458180	CV3416293	single nucleotide variant	NM_001142633.3(PIK3R5):c.1440C>T (p.Pro480=)	not provided [RCV004599171]	likely benign	17	8888347	8888347	Human		name
598272745	CV4006695	single nucleotide variant	NM_001142633.3(PIK3R5):c.235A>G (p.Thr79Ala)	not specified [RCV005389468]	likely benign	17	8905707	8905707	Human		name
15184641	CV704526	single nucleotide variant	NM_001142633.3(PIK3R5):c.1845C>T (p.Asp615=)	not provided [RCV000952757]	benign	17	8887156	8887156	Human		name
15190811	CV727621	single nucleotide variant	NM_001142633.3(PIK3R5):c.1791C>T (p.Thr597=)	PIK3R5-related disorder [RCV003948392]\|not provided [RCV000888204]	benign\|likely benign	17	8887210	8887210	Human	1	name , trait , alternate_id
15148832	CV756357	single nucleotide variant	NM_001142633.3(PIK3R5):c.2256C>T (p.Thr752=)	not provided [RCV000923170]	likely benign	17	8881831	8881831	Human		name
15193291	CV772022	single nucleotide variant	NM_001142633.3(PIK3R5):c.1035C>T (p.Ser345=)	not provided [RCV000933323]	likely benign	17	8888752	8888752	Human		name
8628107	CV83251	single nucleotide variant	NM_001142633.2(PIK3R5):c.1887C>T (p.Pro629=)	Malignant melanoma [RCV000063331]	not provided	17	8887114	8887114	Human		name
126735278	CV1021727	single nucleotide variant	NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His)	Ataxia with oculomotor apraxia type 3 [RCV001334818]	uncertain significance	17	8893598	8893598	Human	1	name
126735273	CV1021728	single nucleotide variant	NM_001142633.3(PIK3R5):c.442G>T (p.Glu148Ter)	Ataxia-oculomotor apraxia 3 [RCV001334817]	pathogenic	17	8893626	8893626	Human		name
10408279	CV208432	single nucleotide variant	NM_001142633.3(PIK3R5):c.583A>G (p.Thr195Ala)	not specified [RCV000192816]	uncertain significance	17	8890812	8890812	Human		name
156248553	CV2222011	single nucleotide variant	NM_001142633.3(PIK3R5):c.955G>A (p.Asp319Asn)	not specified [RCV004103000]	uncertain significance	17	8888832	8888832	Human		name
155952840	CV2264279	single nucleotide variant	NM_001142633.3(PIK3R5):c.667C>G (p.Leu223Val)	not specified [RCV004138203]	uncertain significance	17	8890117	8890117	Human		name
156248144	CV2307134	single nucleotide variant	NM_001142633.3(PIK3R5):c.469C>G (p.Arg157Gly)	not specified [RCV004159614]	uncertain significance	17	8893599	8893599	Human		name
156139243	CV2354727	single nucleotide variant	NM_001142633.3(PIK3R5):c.700G>A (p.Ala234Thr)	not specified [RCV004202676]	uncertain significance	17	8890084	8890084	Human		name
156009692	CV2362028	single nucleotide variant	NM_001142633.3(PIK3R5):c.394G>A (p.Ala132Thr)	not specified [RCV004209840]	uncertain significance	17	8904795	8904795	Human		name
155998206	CV2373263	single nucleotide variant	NM_001142633.3(PIK3R5):c.556G>A (p.Gly186Arg)	not specified [RCV004217931]	uncertain significance	17	8890839	8890839	Human		name
401765893	CV2683461	single nucleotide variant	NM_001142633.3(PIK3R5):c.729C>G (p.Ile243Met)	not specified [RCV004288220]	uncertain significance	17	8890055	8890055	Human		name
401856102	CV2764353	single nucleotide variant	NM_001142633.3(PIK3R5):c.752G>A (p.Arg251Gln)	not specified [RCV004338926]	likely benign	17	8890032	8890032	Human		name
401935687	CV2814939	single nucleotide variant	NM_001142633.3(PIK3R5):c.963A>T (p.Glu321Asp)	not provided [RCV003413147]	uncertain significance	17	8888824	8888824	Human		name
405790943	CV3372674	single nucleotide variant	NM_001142633.3(PIK3R5):c.559C>T (p.His187Tyr)	not specified [RCV004505926]	uncertain significance	17	8890836	8890836	Human		name
405790946	CV3372675	single nucleotide variant	NM_001142633.3(PIK3R5):c.814A>G (p.Thr272Ala)	not specified [RCV004505927]	uncertain significance	17	8889220	8889220	Human		name
405790950	CV3372676	single nucleotide variant	NM_001142633.3(PIK3R5):c.928G>C (p.Glu310Gln)	not specified [RCV004505928]	uncertain significance	17	8888859	8888859	Human		name
597740800	CV3575950	single nucleotide variant	NM_001142633.3(PIK3R5):c.671C>T (p.Ala224Val)	not specified [RCV004844570]	uncertain significance	17	8890113	8890113	Human		name
598272748	CV4006696	single nucleotide variant	NM_001142633.3(PIK3R5):c.368G>T (p.Cys123Phe)	not specified [RCV005389469]	uncertain significance	17	8904821	8904821	Human		name
598272756	CV4006699	single nucleotide variant	NM_001142633.3(PIK3R5):c.815C>T (p.Thr272Ile)	not specified [RCV005389471]	uncertain significance	17	8889219	8889219	Human		name
13522110	CV488377	single nucleotide variant	NM_001142633.3(PIK3R5):c.631G>A (p.Val211Ile)	not provided [RCV000591319]\|not specified [RCV004024697]	uncertain significance	17	8890764	8890764	Human		name
150447684	CV1015254	single nucleotide variant	NM_001142633.3(PIK3R5):c.1364G>A (p.Arg455Gln)	Spastic ataxia [RCV001647215]\|not specified [RCV004035263]	uncertain significance	17	8888423	8888423	Human	2	name
126725967	CV1018410	single nucleotide variant	NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser)	Ataxia with oculomotor apraxia type 3 [RCV001331707]	uncertain significance	17	8880975	8880975	Human	1	name
126731792	CV1021726	single nucleotide variant	NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser)	Ataxia with oculomotor apraxia type 3 [RCV001333825]	uncertain significance	17	8888580	8888580	Human	1	name
10404245	CV208431	single nucleotide variant	NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)	Ataxia with oculomotor apraxia type 3 [RCV001334816]\|not provided [RCV000886637]\|not specified [RCV000194601]	likely benign\|uncertain significance	17	8880725	8880725	Human	1	name
155931326	CV2221012	single nucleotide variant	NM_001142633.3(PIK3R5):c.1081C>T (p.Leu361Phe)	not specified [RCV004092696]	uncertain significance	17	8888706	8888706	Human		name
156287476	CV2229632	single nucleotide variant	NM_001142633.3(PIK3R5):c.1393G>A (p.Glu465Lys)	not specified [RCV004103447]	uncertain significance	17	8888394	8888394	Human		name
156131204	CV2235219	single nucleotide variant	NM_001142633.3(PIK3R5):c.1115C>T (p.Ser372Leu)	not specified [RCV004107269]	uncertain significance	17	8888672	8888672	Human		name
156101797	CV2260367	single nucleotide variant	NM_001142633.3(PIK3R5):c.1453G>A (p.Gly485Ser)	not specified [RCV004129443]	likely benign	17	8888334	8888334	Human		name
156121776	CV2276042	single nucleotide variant	NM_001142633.3(PIK3R5):c.1754A>T (p.Asp585Val)	not specified [RCV004141718]	uncertain significance	17	8887546	8887546	Human		name
155979840	CV2336844	single nucleotide variant	NM_001142633.3(PIK3R5):c.2530A>G (p.Ser844Gly)	not specified [RCV004190464]	uncertain significance	17	8880752	8880752	Human		name
155934145	CV2372404	single nucleotide variant	NM_001142633.3(PIK3R5):c.2154C>G (p.Ile718Met)	not specified [RCV004217168]	uncertain significance	17	8884758	8884758	Human		name
156387159	CV2372658	single nucleotide variant	NM_001142633.3(PIK3R5):c.1231C>T (p.Arg411Cys)	not specified [RCV004221858]	uncertain significance	17	8888556	8888556	Human		name
156066883	CV2381041	single nucleotide variant	NM_001142633.3(PIK3R5):c.1727G>A (p.Arg576Gln)	not specified [RCV004225079]	uncertain significance	17	8887573	8887573	Human		name
243059437	CV2406174	single nucleotide variant	NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)	Ataxia with oculomotor apraxia type 3 [RCV003134922]	uncertain significance	17	8881658	8881658	Human	1	name
243059438	CV2406175	single nucleotide variant	NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)	Ataxia with oculomotor apraxia type 3 [RCV003134923]	uncertain significance	17	8880727	8880727	Human	1	name
243051253	CV2415778	single nucleotide variant	NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)	Ataxia with oculomotor apraxia type 3 [RCV003148388]	uncertain significance	17	8887666	8887666	Human	1	name
329358479	CV2425268	single nucleotide variant	NM_001142633.3(PIK3R5):c.1937A>G (p.Glu646Gly)	not specified [RCV004250939]	uncertain significance	17	8886574	8886574	Human		name
329377473	CV2435931	single nucleotide variant	NM_001142633.3(PIK3R5):c.1006A>G (p.Thr336Ala)	not specified [RCV004255156]	uncertain significance	17	8888781	8888781	Human		name
401741902	CV2677463	single nucleotide variant	NM_001142633.3(PIK3R5):c.1322G>A (p.Arg441Gln)	not specified [RCV004289532]	uncertain significance	17	8888465	8888465	Human		name
401744585	CV2688193	single nucleotide variant	NM_001142633.3(PIK3R5):c.1576C>T (p.Arg526Trp)	not specified [RCV004305232]	uncertain significance	17	8888211	8888211	Human		name
401761390	CV2689129	single nucleotide variant	NM_001142633.3(PIK3R5):c.2060C>T (p.Thr687Met)	not specified [RCV004305891]	uncertain significance	17	8886297	8886297	Human		name
401759044	CV2694402	single nucleotide variant	NM_001142633.3(PIK3R5):c.1415G>A (p.Arg472Gln)	not specified [RCV004304584]	uncertain significance	17	8888372	8888372	Human		name
401773702	CV2705495	single nucleotide variant	NM_001142633.3(PIK3R5):c.1232G>A (p.Arg411His)	not specified [RCV004316583]	uncertain significance	17	8888555	8888555	Human		name
401888538	CV2757661	single nucleotide variant	NM_001142633.3(PIK3R5):c.2426G>C (p.Gly809Ala)	not specified [RCV004334773]	uncertain significance	17	8880974	8880974	Human		name
401877005	CV2764261	single nucleotide variant	NM_001142633.3(PIK3R5):c.1715G>C (p.Cys572Ser)	not specified [RCV004336795]	uncertain significance	17	8887585	8887585	Human		name
401893657	CV2765392	single nucleotide variant	NM_001142633.3(PIK3R5):c.2321C>T (p.Thr774Met)	not specified [RCV004339893]	uncertain significance	17	8881691	8881691	Human		name
401858282	CV2766468	single nucleotide variant	NM_001142633.3(PIK3R5):c.1649G>A (p.Arg550Gln)	not specified [RCV004347093]	uncertain significance	17	8887651	8887651	Human		name
401885274	CV2768037	single nucleotide variant	NM_001142633.3(PIK3R5):c.1768G>A (p.Ala590Thr)	not specified [RCV004348279]	uncertain significance	17	8887532	8887532	Human		name
401869614	CV2772462	single nucleotide variant	NM_001142633.3(PIK3R5):c.1334G>C (p.Gly445Ala)	not specified [RCV004355244]	uncertain significance	17	8888453	8888453	Human		name
405790910	CV3372664	single nucleotide variant	NM_001142633.3(PIK3R5):c.1244G>A (p.Arg415His)	not specified [RCV004505916]	uncertain significance	17	8888543	8888543	Human		name
405790914	CV3372665	single nucleotide variant	NM_001142633.3(PIK3R5):c.1274A>G (p.Tyr425Cys)	not specified [RCV004505917]	uncertain significance	17	8888513	8888513	Human		name
405790917	CV3372666	single nucleotide variant	NM_001142633.3(PIK3R5):c.1423C>T (p.Arg475Cys)	not specified [RCV004505918]	uncertain significance	17	8888364	8888364	Human		name
405790920	CV3372667	single nucleotide variant	NM_001142633.3(PIK3R5):c.1492C>T (p.Arg498Cys)	not specified [RCV004505919]	uncertain significance	17	8888295	8888295	Human		name
405790923	CV3372668	single nucleotide variant	NM_001142633.3(PIK3R5):c.1675G>A (p.Val559Met)	not specified [RCV004505920]	uncertain significance	17	8887625	8887625	Human		name
405790928	CV3372669	single nucleotide variant	NM_001142633.3(PIK3R5):c.1955T>C (p.Leu652Pro)	not specified [RCV004505921]	uncertain significance	17	8886556	8886556	Human		name
405790931	CV3372670	single nucleotide variant	NM_001142633.3(PIK3R5):c.2062A>G (p.Thr688Ala)	not specified [RCV004505922]	uncertain significance	17	8886295	8886295	Human		name
405790934	CV3372671	single nucleotide variant	NM_001142633.3(PIK3R5):c.2077C>T (p.His693Tyr)	not specified [RCV004505923]	uncertain significance	17	8886280	8886280	Human		name
405790937	CV3372672	single nucleotide variant	NM_001142633.3(PIK3R5):c.2591T>G (p.Leu864Arg)	not specified [RCV004505924]	uncertain significance	17	8880691	8880691	Human		name
405790940	CV3372673	single nucleotide variant	NM_001142633.3(PIK3R5):c.2626A>G (p.Ser876Gly)	not specified [RCV004505925]	uncertain significance	17	8880656	8880656	Human		name
405854228	CV3392917	single nucleotide variant	NM_001142633.3(PIK3R5):c.2207G>T (p.Gly736Val)	not specified [RCV004527074]	uncertain significance	17	8881880	8881880	Human		name
405872487	CV3398258	single nucleotide variant	NM_001142633.3(PIK3R5):c.1633C>T (p.Arg545Cys)	not provided [RCV004575259]	uncertain significance	17	8887667	8887667	Human		name
407512073	CV3463629	single nucleotide variant	NM_001142633.3(PIK3R5):c.1159A>G (p.Met387Val)	not specified [RCV004648269]	likely benign	17	8888628	8888628	Human		name
407512077	CV3463630	single nucleotide variant	NM_001142633.3(PIK3R5):c.1012G>A (p.Gly338Arg)	not specified [RCV004648270]	uncertain significance	17	8888775	8888775	Human		name
407530778	CV3463631	single nucleotide variant	NM_001142633.3(PIK3R5):c.1627A>G (p.Asn543Asp)	not specified [RCV004657232]	uncertain significance	17	8887673	8887673	Human		name
407530779	CV3463632	single nucleotide variant	NM_001142633.3(PIK3R5):c.2393C>T (p.Ser798Leu)	not specified [RCV004657233]	uncertain significance	17	8881007	8881007	Human		name
597767362	CV3575942	single nucleotide variant	NM_001142633.3(PIK3R5):c.2543C>T (p.Ser848Leu)	not specified [RCV004850451]	uncertain significance	17	8880739	8880739	Human		name
597740776	CV3575944	single nucleotide variant	NM_001142633.3(PIK3R5):c.1216C>T (p.Arg406Cys)	not specified [RCV004844565]	uncertain significance	17	8888571	8888571	Human		name
597740782	CV3575945	single nucleotide variant	NM_001142633.3(PIK3R5):c.2282G>A (p.Arg761Gln)	not specified [RCV004844566]	uncertain significance	17	8881805	8881805	Human		name
597740787	CV3575946	single nucleotide variant	NM_001142633.3(PIK3R5):c.1502G>A (p.Arg501His)	not specified [RCV004844567]	uncertain significance	17	8888285	8888285	Human		name
597740795	CV3575948	single nucleotide variant	NM_001142633.3(PIK3R5):c.1130C>T (p.Thr377Ile)	not specified [RCV004844569]	uncertain significance	17	8888657	8888657	Human		name
597740810	CV3575952	single nucleotide variant	NM_001142633.3(PIK3R5):c.1672T>C (p.Tyr558His)	not specified [RCV004844572]	uncertain significance	17	8887628	8887628	Human		name
597740815	CV3575953	single nucleotide variant	NM_001142633.3(PIK3R5):c.1723C>A (p.Pro575Thr)	not specified [RCV004844573]	uncertain significance	17	8887577	8887577	Human		name
597854481	CV3762486	single nucleotide variant	NM_001142633.3(PIK3R5):c.1748C>T (p.Pro583Leu)	not specified [RCV005088402]	likely benign	17	8887552	8887552	Human		name
598272752	CV4006697	single nucleotide variant	NM_001142633.3(PIK3R5):c.1100C>T (p.Ser367Leu)	not specified [RCV005389470]	uncertain significance	17	8888687	8888687	Human		name
598205185	CV4006698	single nucleotide variant	NM_001142633.3(PIK3R5):c.1138G>A (p.Val380Ile)	not specified [RCV005399426]	uncertain significance	17	8888649	8888649	Human		name
598272763	CV4006701	single nucleotide variant	NM_001142633.3(PIK3R5):c.1481C>T (p.Ala494Val)	not specified [RCV005389473]	uncertain significance	17	8888306	8888306	Human		name
598272768	CV4006702	single nucleotide variant	NM_001142633.3(PIK3R5):c.1223G>A (p.Ser408Asn)	not specified [RCV005389474]	uncertain significance	17	8888564	8888564	Human		name
598272772	CV4006703	single nucleotide variant	NM_001142633.3(PIK3R5):c.1375C>T (p.Leu459Phe)	not specified [RCV005389475]	uncertain significance	17	8888412	8888412	Human		name
13462391	CV439301	single nucleotide variant	NM_001142633.3(PIK3R5):c.2554A>G (p.Thr852Ala)	not provided [RCV000514066]	uncertain significance	17	8880728	8880728	Human		name
13517002	CV488376	single nucleotide variant	NM_001142633.3(PIK3R5):c.2281C>T (p.Arg761Trp)	not provided [RCV000596215]\|not specified [RCV004847748]	uncertain significance	17	8881806	8881806	Human		name
8611501	CV57813	single nucleotide variant	NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)	Ataxia with oculomotor apraxia type 3 [RCV000041972]\|not specified [RCV001777146]	pathogenic\|benign\|likely benign\|uncertain significance	17	8887116	8887116	Human	1	name
15102886	CV704527	single nucleotide variant	NM_001142633.3(PIK3R5):c.1681G>A (p.Val561Met)	not provided [RCV000959369]	benign	17	8887619	8887619	Human		name
15182073	CV715870	single nucleotide variant	NM_001142633.3(PIK3R5):c.1610A>G (p.Asn537Ser)	not provided [RCV000974546]	benign	17	8888177	8888177	Human		name
15107456	CV715871	single nucleotide variant	NM_001142633.3(PIK3R5):c.1076T>C (p.Leu359Ser)	PIK3R5-related disorder [RCV003926121]\|not provided [RCV000960293]\|not specified [RCV004029888]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	8888711	8888711	Human	1	name , trait , alternate_id
8636414	CV91639	single nucleotide variant	NM_001142633.2(PIK3R5):c.1688G>A (p.Arg563Gln)	Malignant melanoma [RCV000071737]	not provided	17	8887612	8887612	Human		name
243059439	CV2406176	microsatellite	NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)	Ataxia with oculomotor apraxia type 3 [RCV003134924]	uncertain significance	17	8881669	8881671	Human		name

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