Ppp2r5d Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

591 records found for search term Ppp2r5d

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150533205	CV1292319	single nucleotide variant	NM_006245.4(PPP2R5D):c.-5C>T	not provided [RCV001753926]	uncertain significance	6	42984673	42984673	Human		name
150450665	CV1260983	single nucleotide variant	NM_006245.4(PPP2R5D):c.-32G>T	not provided [RCV001680652]	benign	6	42984646	42984646	Human		name
150472260	CV1270226	single nucleotide variant	NM_006245.4(PPP2R5D):c.*21G>C	not provided [RCV001695514]	benign	6	43011307	43011307	Human		name
150533266	CV1292418	single nucleotide variant	NM_006245.4(PPP2R5D):c.-37G>T	not provided [RCV001754025]	benign	6	42984641	42984641	Human		name
10448606	CV214563	single nucleotide variant	NM_006245.3(PPP2R5D):c.592G>A	Mental retardation, autosomal dominant 35 [RCV000209873]\|not provided [RCV000202079]	pathogenic	6	43007265	43007265	Human		name
10448604	CV214564	single nucleotide variant	NM_006245.3(PPP2R5D):c.598G>A	not provided [RCV000202069]	pathogenic	6	43007271	43007271	Human		name
150423685	CV1183840	single nucleotide variant	NM_006245.4(PPP2R5D):c.*265T>C	not provided [RCV001555661]	likely benign	6	43011551	43011551	Human		name
152072245	CV1549333	single nucleotide variant	NM_006245.4(PPP2R5D):c.27+9G>A	not provided [RCV002091747]	likely benign	6	42984713	42984713	Human		name
597902555	CV3779277	single nucleotide variant	NM_006245.4(PPP2R5D):c.28-2A>C	not provided [RCV005127354]	uncertain significance	6	42989609	42989609	Human		name
150409142	CV1176788	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-7C>T	not provided [RCV001546145]	likely benign	6	43007928	43007928	Human		name
150469271	CV1243130	single nucleotide variant	NM_006245.4(PPP2R5D):c.323-4A>G	not provided [RCV001650649]	benign\|likely benign	6	43006907	43006907	Human		name
150456447	CV1269079	single nucleotide variant	NM_006245.4(PPP2R5D):c.27+17T>C	not provided [RCV001692903]	benign	6	42984721	42984721	Human		name
150437907	CV1286622	single nucleotide variant	NM_006245.4(PPP2R5D):c.28-35C>T	not provided [RCV001724701]	benign	6	42989576	42989576	Human		name
151889887	CV1343586	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+9C>T	Hogue-Janssens syndrome 1 [RCV005042507]\|not provided [RCV001942904]	likely benign\|uncertain significance	6	43008269	43008269	Human	1	name
151772450	CV1357225	single nucleotide variant	NM_006245.4(PPP2R5D):c.634-3T>C	not provided [RCV001864205]	uncertain significance	6	43007411	43007411	Human		name
151830839	CV1379193	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+4C>A	not provided [RCV001935040]	conflicting interpretations of pathogenicity\|uncertain significance	6	43006683	43006683	Human		name
151741767	CV1425445	single nucleotide variant	NM_006245.4(PPP2R5D):c.857+7C>T	not provided [RCV001926530]	uncertain significance	6	43008072	43008072	Human		name
152100153	CV1524748	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-8A>G	not provided [RCV002172989]	likely benign	6	43007927	43007927	Human		name
152135518	CV1560394	single nucleotide variant	NM_006245.4(PPP2R5D):c.27+10G>T	not provided [RCV002137488]	likely benign	6	42984714	42984714	Human		name
152090456	CV1580831	single nucleotide variant	NM_006245.4(PPP2R5D):c.858-4T>G	not provided [RCV002094100]	likely benign	6	43008197	43008197	Human		name
152162008	CV1606251	single nucleotide variant	NM_006245.4(PPP2R5D):c.28-11T>C	not provided [RCV002181095]	likely benign	6	42989600	42989600	Human		name
152114524	CV1628070	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+9C>A	not provided [RCV002197221]	likely benign	6	43007515	43007515	Human		name
155912606	CV1980294	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+6A>G	not provided [RCV002614100]	uncertain significance	6	43008266	43008266	Human		name
156125916	CV1992975	single nucleotide variant	NM_006245.4(PPP2R5D):c.857+3G>A	not provided [RCV002623126]	benign	6	43008068	43008068	Human		name
156197130	CV2005767	single nucleotide variant	NM_006245.4(PPP2R5D):c.918-5C>G	not provided [RCV002643504]	likely benign	6	43008362	43008362	Human		name
155914165	CV2007993	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-5C>A	not provided [RCV002681933]	likely benign	6	43007930	43007930	Human		name
155931132	CV2067297	single nucleotide variant	NM_006245.4(PPP2R5D):c.323-7C>T	not provided [RCV002838769]	likely benign	6	43006904	43006904	Human		name
156137421	CV2129117	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+9C>T	not provided [RCV002954100]	likely benign	6	43006688	43006688	Human		name
156311421	CV2133323	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-6C>T	not provided [RCV003011134]	likely benign	6	43007929	43007929	Human		name
155986823	CV2153926	single nucleotide variant	NM_006245.4(PPP2R5D):c.918-5C>T	not provided [RCV003016633]	likely benign	6	43008362	43008362	Human		name
401858456	CV2750608	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+3G>A	not provided [RCV003334281]	uncertain significance	6	43007509	43007509	Human		name
402479493	CV2854653	single nucleotide variant	NM_006245.4(PPP2R5D):c.27+19C>A	not provided [RCV003543792]	likely benign	6	42984723	42984723	Human		name
402479571	CV2910769	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-8A>T	not provided [RCV003571925]	likely benign	6	43007927	43007927	Human		name
405119751	CV3030581	single nucleotide variant	NM_006245.4(PPP2R5D):c.28-16C>A	not provided [RCV003700546]	likely benign	6	42989595	42989595	Human		name
405207008	CV3040107	single nucleotide variant	NM_006245.4(PPP2R5D):c.633+4C>T	not provided [RCV003708134]	uncertain significance	6	43007310	43007310	Human		name
404982253	CV3121472	single nucleotide variant	NM_006245.4(PPP2R5D):c.323-4A>C	not provided [RCV003826271]	likely benign	6	43006907	43006907	Human		name
597891673	CV3785027	single nucleotide variant	NM_006245.4(PPP2R5D):c.522+4G>A	not provided [RCV005125806]	uncertain significance	6	43007114	43007114	Human		name
597954520	CV3786703	single nucleotide variant	NM_006245.4(PPP2R5D):c.858-1G>C	not provided [RCV005121794]	uncertain significance	6	43008200	43008200	Human		name
597895728	CV3834504	single nucleotide variant	NM_006245.4(PPP2R5D):c.27+18T>C	not provided [RCV005180415]	likely benign	6	42984722	42984722	Human		name
15187978	CV730427	deletion	NM_006245.4(PPP2R5D):c.634-6del	not provided [RCV000887403]	benign	6	43007405	43007405	Human		name
15132213	CV787379	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-5C>T	not provided [RCV000981343]	likely benign	6	43007930	43007930	Human		name
150407608	CV1190514	single nucleotide variant	NM_006245.4(PPP2R5D):c.323-10G>T	not provided [RCV001565066]	likely benign	6	43006901	43006901	Human		name
150446984	CV1201812	single nucleotide variant	NM_006245.4(PPP2R5D):c.27+131C>G	not provided [RCV001584680]	likely benign	6	42984835	42984835	Human		name
150451541	CV1220877	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+50C>T	not provided [RCV001611971]	benign	6	43006729	43006729	Human		name
150505769	CV1242049	single nucleotide variant	NM_006245.4(PPP2R5D):c.857+10G>A	not provided [RCV001658400]	benign	6	43008075	43008075	Human		name
150465079	CV1252822	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+92A>G	not provided [RCV001670146]	benign	6	43006771	43006771	Human		name
150493051	CV1267067	single nucleotide variant	NM_006245.4(PPP2R5D):c.858-40A>C	not provided [RCV001688094]	benign	6	43008161	43008161	Human		name
150491295	CV1267753	single nucleotide variant	NM_006245.4(PPP2R5D):c.522+22A>G	not provided [RCV001687778]	benign	6	43007132	43007132	Human		name
150471661	CV1270121	single nucleotide variant	NM_006245.4(PPP2R5D):c.633+27C>T	not provided [RCV001695409]	benign	6	43007333	43007333	Human		name
150455577	CV1277813	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-29T>C	not provided [RCV001708990]	benign	6	43007906	43007906	Human		name
150476860	CV1279345	single nucleotide variant	NM_006245.4(PPP2R5D):c.523-35G>C	not provided [RCV001714050]	benign	6	43007161	43007161	Human		name
150437181	CV1286504	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+51G>A	not provided [RCV001724582]	benign	6	43006730	43006730	Human		name
151750978	CV1472201	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+4G>T	not provided [RCV002023376]	uncertain significance	6	43011001	43011001	Human		name
151865504	CV1495120	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+7C>T	not provided [RCV001980666]	likely benign\|uncertain significance	6	43009456	43009456	Human		name
151765876	CV1516047	single nucleotide variant	NM_006245.4(PPP2R5D):c.634-19C>T	not provided [RCV002024881]	likely benign\|uncertain significance	6	43007395	43007395	Human		name
152109022	CV1530044	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+11G>T	not provided [RCV002196525]	likely benign	6	43008271	43008271	Human		name
152115256	CV1537516	single nucleotide variant	NM_006245.4(PPP2R5D):c.106-18G>T	not provided [RCV002135014]	likely benign	6	43006445	43006445	Human		name
152168267	CV1547938	single nucleotide variant	NM_006245.4(PPP2R5D):c.106-15G>C	not provided [RCV002161074]	likely benign	6	43006448	43006448	Human		name
152081535	CV1551651	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+9C>T	not provided [RCV002092911]	likely benign	6	43008755	43008755	Human		name
152059374	CV1595959	single nucleotide variant	NM_006245.4(PPP2R5D):c.918-16G>A	not provided [RCV002090067]	likely benign	6	43008351	43008351	Human		name
152160801	CV1601794	single nucleotide variant	NM_006245.4(PPP2R5D):c.522+15A>G	not provided [RCV002180898]	likely benign	6	43007125	43007125	Human		name
152041379	CV1603186	single nucleotide variant	NM_006245.4(PPP2R5D):c.323-16G>A	not provided [RCV002071060]	likely benign	6	43006895	43006895	Human		name
152043845	CV1637749	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+12T>C	not provided [RCV002144851]	likely benign	6	43006691	43006691	Human		name
152147452	CV1649754	single nucleotide variant	NM_006245.4(PPP2R5D):c.323-10G>A	not provided [RCV002121269]	likely benign	6	43006901	43006901	Human		name
152143686	CV1651531	single nucleotide variant	NM_006245.4(PPP2R5D):c.105+16G>A	not provided [RCV002138496]	likely benign	6	42989704	42989704	Human		name
152151913	CV1652596	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+11A>C	not provided [RCV002102356]	likely benign	6	43006690	43006690	Human		name
156405011	CV1916829	single nucleotide variant	NM_006245.4(PPP2R5D):c.1672-5C>A	PPP2R5D-related disorder [RCV004550424]\|not provided [RCV002606230]	likely benign	6	43011144	43011144	Human	1	name , trait , alternate_id
156418903	CV1918950	single nucleotide variant	NM_006245.4(PPP2R5D):c.1481+8T>C	not provided [RCV002612114]	likely benign	6	43010577	43010577	Human		name
156345253	CV1958149	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+11G>A	not provided [RCV002580729]	likely benign\|uncertain significance	6	43008271	43008271	Human		name
156139674	CV1959642	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+11A>G	not provided [RCV002572523]	likely benign	6	43006690	43006690	Human		name
156355956	CV1962403	single nucleotide variant	NM_006245.4(PPP2R5D):c.522+19C>T	not provided [RCV002581391]	likely benign	6	43007129	43007129	Human		name
156419678	CV1974039	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+15G>A	not provided [RCV002612917]	likely benign\|uncertain significance	6	43008275	43008275	Human		name
156143530	CV2002871	single nucleotide variant	NM_006245.4(PPP2R5D):c.1251+5G>A	not provided [RCV002663655]	uncertain significance	6	43009232	43009232	Human		name
156048927	CV2006631	single nucleotide variant	NM_006245.4(PPP2R5D):c.1026+9C>T	not provided [RCV002659298]	likely benign	6	43008484	43008484	Human		name
156121805	CV2020814	single nucleotide variant	NM_006245.4(PPP2R5D):c.105+15C>T	not provided [RCV002740227]	likely benign\|uncertain significance	6	42989703	42989703	Human		name
156257503	CV2025995	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-10G>A	not provided [RCV002746193]	likely benign	6	43007925	43007925	Human		name
156252368	CV2041114	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+11G>A	not provided [RCV002806054]	likely benign	6	43007517	43007517	Human		name
156068734	CV2050838	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+15G>T	not provided [RCV002797335]	likely benign	6	43008275	43008275	Human		name
156380868	CV2060793	single nucleotide variant	NM_006245.4(PPP2R5D):c.523-11C>G	not provided [RCV002815078]	likely benign	6	43007185	43007185	Human		name
156082645	CV2098760	single nucleotide variant	NM_006245.4(PPP2R5D):c.1554+7T>G	not provided [RCV002912754]	likely benign	6	43010743	43010743	Human		name
156361527	CV2119507	single nucleotide variant	NM_006245.4(PPP2R5D):c.858-18C>G	not provided [RCV002967011]	likely benign	6	43008183	43008183	Human		name
155929296	CV2145366	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-18C>T	not provided [RCV003013553]	likely benign	6	43007917	43007917	Human		name
155941889	CV2158182	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+7G>C	not provided [RCV003014322]	likely benign	6	43011004	43011004	Human		name
156104412	CV2164596	single nucleotide variant	NM_006245.4(PPP2R5D):c.1252-7C>A	not provided [RCV003038705]	likely benign	6	43009315	43009315	Human		name
155962208	CV2183592	single nucleotide variant	NM_006245.4(PPP2R5D):c.1672-1G>C	not provided [RCV003032996]	uncertain significance	6	43011148	43011148	Human		name
156037676	CV2189808	single nucleotide variant	NM_006245.4(PPP2R5D):c.857+12A>G	not provided [RCV003036442]	likely benign	6	43008077	43008077	Human		name
156346708	CV2191258	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+11A>T	not provided [RCV003048050]	likely benign	6	43006690	43006690	Human		name
402478725	CV2854627	duplication	NM_006245.4(PPP2R5D):c.1481+2dup	not provided [RCV003543780]	uncertain significance	6	43010570	43010571	Human		name
405209928	CV2871505	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+8G>A	not provided [RCV003552448]	likely benign	6	43009457	43009457	Human		name
405112713	CV2900533	single nucleotide variant	NM_006245.4(PPP2R5D):c.523-14G>T	not provided [RCV003558104]	likely benign	6	43007182	43007182	Human		name
405188522	CV2917862	single nucleotide variant	NM_006245.4(PPP2R5D):c.1081-7C>G	not provided [RCV003564663]	likely benign	6	43009050	43009050	Human		name
405060914	CV2929168	single nucleotide variant	NM_006245.4(PPP2R5D):c.857+13G>T	not provided [RCV003580404]	likely benign	6	43008078	43008078	Human		name
405095986	CV2944088	single nucleotide variant	NM_006245.4(PPP2R5D):c.918-18A>G	not provided [RCV003665650]	likely benign\|uncertain significance	6	43008349	43008349	Human		name
402499864	CV2946946	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+15G>C	not provided [RCV003661492]	likely benign	6	43008275	43008275	Human		name
405117008	CV3020063	single nucleotide variant	NM_006245.4(PPP2R5D):c.1027-9C>T	not provided [RCV003700252]	likely benign	6	43008684	43008684	Human		name
405078818	CV3031764	single nucleotide variant	NM_006245.4(PPP2R5D):c.523-19A>G	not provided [RCV003698691]	likely benign	6	43007177	43007177	Human		name
405226472	CV3039397	duplication	NM_006245.4(PPP2R5D):c.858-11dup	not provided [RCV003710792]	benign	6	43008185	43008186	Human		name
405203848	CV3116798	single nucleotide variant	NM_006245.4(PPP2R5D):c.322+14G>A	not provided [RCV003822282]	likely benign	6	43006693	43006693	Human		name
405181799	CV3119997	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+14T>C	not provided [RCV003820090]	likely benign	6	43008274	43008274	Human		name
405212838	CV3142722	single nucleotide variant	NM_006245.4(PPP2R5D):c.523-12C>T	not provided [RCV003846079]	likely benign	6	43007184	43007184	Human		name
405065726	CV3144836	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+3G>T	not provided [RCV003850613]	uncertain significance	6	43011000	43011000	Human		name
405221112	CV3157867	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+16G>A	not provided [RCV003863559]	uncertain significance	6	43008276	43008276	Human		name
405094746	CV3164254	single nucleotide variant	NM_006245.4(PPP2R5D):c.918-17T>C	not provided [RCV003852569]	likely benign	6	43008350	43008350	Human		name
405088771	CV3167747	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+10C>T	not provided [RCV003852137]	likely benign	6	43007516	43007516	Human		name
407429234	CV3413645	single nucleotide variant	NM_006245.4(PPP2R5D):c.1481+1G>A	Hogue-Janssens syndrome 1 [RCV004595054]	uncertain significance	6	43010570	43010570	Human	1	name
597879136	CV3744480	single nucleotide variant	NM_006245.4(PPP2R5D):c.1555-7C>T	not provided [RCV005069694]	likely benign	6	43010874	43010874	Human		name
597874152	CV3747427	single nucleotide variant	NM_006245.4(PPP2R5D):c.634-18G>A	not provided [RCV005069111]	likely benign	6	43007396	43007396	Human		name
597832588	CV3760240	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+10C>G	not provided [RCV005084983]	likely benign	6	43007516	43007516	Human		name
597878004	CV3763207	single nucleotide variant	NM_006245.4(PPP2R5D):c.1252-6C>G	not provided [RCV005108802]	likely benign	6	43009316	43009316	Human		name
597944287	CV3782797	single nucleotide variant	NM_006245.4(PPP2R5D):c.1481+3G>C	not provided [RCV005134337]	uncertain significance	6	43010572	43010572	Human		name
597948314	CV3818285	single nucleotide variant	NM_006245.4(PPP2R5D):c.858-10C>T	not provided [RCV005160546]	likely benign	6	43008191	43008191	Human		name
597914965	CV3833996	single nucleotide variant	NM_006245.4(PPP2R5D):c.857+18G>A	not provided [RCV005183355]	likely benign	6	43008083	43008083	Human		name
597912520	CV3850512	single nucleotide variant	NM_006245.4(PPP2R5D):c.1555-9C>T	not provided [RCV005203661]	likely benign	6	43010872	43010872	Human		name
15201444	CV759664	single nucleotide variant	NM_006245.4(PPP2R5D):c.917+10C>T	not provided [RCV000913140]	benign	6	43008270	43008270	Human		name
150339317	CV1167388	single nucleotide variant	NM_006245.4(PPP2R5D):c.1672-63C>T	not provided [RCV001534142]	likely benign	6	43011086	43011086	Human		name
150412369	CV1190515	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+183A>G	not provided [RCV001566917]	likely benign	6	43007689	43007689	Human		name
150418051	CV1197546	deletion	NM_006245.4(PPP2R5D):c.105+285del	not provided [RCV001576575]	likely benign	6	42989969	42989969	Human		name
150474938	CV1202171	single nucleotide variant	NM_006245.4(PPP2R5D):c.106-160C>T	not provided [RCV001589414]	likely benign	6	43006303	43006303	Human		name
150487404	CV1204818	single nucleotide variant	NM_006245.4(PPP2R5D):c.1252-27C>T	not provided [RCV001591956]	likely benign	6	43009295	43009295	Human		name
150482224	CV1209933	single nucleotide variant	NM_006245.4(PPP2R5D):c.726+161A>G	not provided [RCV001590631]	likely benign	6	43007667	43007667	Human		name
150480416	CV1239574	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+86A>C	not provided [RCV001652737]	benign	6	43009535	43009535	Human		name
150466598	CV1240436	single nucleotide variant	NM_006245.4(PPP2R5D):c.1026+19T>G	not provided [RCV001650197]	benign	6	43008494	43008494	Human		name
150502101	CV1241139	single nucleotide variant	NM_006245.4(PPP2R5D):c.727-211C>T	not provided [RCV001657035]	benign	6	43007724	43007724	Human		name
150449504	CV1253984	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+68T>C	not provided [RCV001667621]	benign	6	43008814	43008814	Human		name
150464505	CV1276407	single nucleotide variant	NM_006245.4(PPP2R5D):c.1672-23A>G	not provided [RCV001710352]	benign	6	43011126	43011126	Human		name
150450701	CV1276501	single nucleotide variant	NM_006245.4(PPP2R5D):c.1481+19G>A	not provided [RCV001708290]	benign	6	43010588	43010588	Human	1	name
151828089	CV1438029	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+20G>T	not provided [RCV001920220]	likely benign\|uncertain significance	6	43011017	43011017	Human		name
152149404	CV1545378	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+12G>A	not provided [RCV002121531]	likely benign	6	43009461	43009461	Human		name
152149925	CV1555821	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+13T>C	not provided [RCV002179288]	likely benign	6	43011010	43011010	Human		name
152078596	CV1557755	single nucleotide variant	NM_006245.4(PPP2R5D):c.1554+17A>G	not provided [RCV002170250]	likely benign	6	43010753	43010753	Human		name
152079210	CV1557848	single nucleotide variant	NM_006245.4(PPP2R5D):c.1251+13C>G	not provided [RCV002170319]	likely benign	6	43009240	43009240	Human		name
152145687	CV1564204	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+14C>T	not provided [RCV002138771]	likely benign	6	43008760	43008760	Human		name
152156362	CV1585983	single nucleotide variant	NM_006245.4(PPP2R5D):c.1482-11T>C	not provided [RCV002140229]	likely benign	6	43010653	43010653	Human		name
152050772	CV1626479	single nucleotide variant	NM_006245.4(PPP2R5D):c.1026+19T>C	not provided [RCV002189388]	likely benign	6	43008494	43008494	Human		name
152030811	CV1632327	single nucleotide variant	NM_006245.4(PPP2R5D):c.1251+12A>G	not provided [RCV002124423]	likely benign	6	43009239	43009239	Human		name
152043563	CV1637706	single nucleotide variant	NM_006245.4(PPP2R5D):c.1672-19T>G	not provided [RCV002144817]	likely benign	6	43011130	43011130	Human		name
152151179	CV1658716	single nucleotide variant	NM_006245.4(PPP2R5D):c.1554+17A>T	not provided [RCV002139538]	likely benign	6	43010753	43010753	Human		name
156386669	CV1961305	single nucleotide variant	NM_006245.4(PPP2R5D):c.1481+18C>T	not provided [RCV002583536]	likely benign	6	43010587	43010587	Human		name
156067615	CV1975509	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+18C>T	not provided [RCV002591177]	likely benign	6	43008764	43008764	Human		name
156382186	CV1978963	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+14C>A	not provided [RCV002604045]	likely benign	6	43008760	43008760	Human		name
156413881	CV1979169	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+14G>A	not provided [RCV002608972]	likely benign	6	43011011	43011011	Human		name
155913850	CV1990317	single nucleotide variant	NM_006245.4(PPP2R5D):c.1026+20A>G	not provided [RCV002614183]	likely benign	6	43008495	43008495	Human		name
155945745	CV1999467	single nucleotide variant	NM_006245.4(PPP2R5D):c.1482-14C>T	not provided [RCV002685733]	likely benign	6	43010650	43010650	Human		name
156399162	CV2013148	deletion	NM_006245.4(PPP2R5D):c.1080+14del	not provided [RCV002725849]	likely benign	6	43008759	43008759	Human		name
156301698	CV2013497	single nucleotide variant	NM_006245.4(PPP2R5D):c.1482-20A>G	not provided [RCV002716091]	likely benign	6	43010644	43010644	Human		name
156203963	CV2021364	single nucleotide variant	NM_006245.4(PPP2R5D):c.1380-11C>T	not provided [RCV002711501]	likely benign	6	43010457	43010457	Human		name
156265663	CV2030434	deletion	NM_006245.4(PPP2R5D):c.1379+14del	not provided [RCV002746461]	benign	6	43009460	43009460	Human		name
155903854	CV2031289	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+13C>G	not provided [RCV002726349]	likely benign	6	43008759	43008759	Human		name
156237445	CV2031699	single nucleotide variant	NM_006245.4(PPP2R5D):c.1481+15C>A	not provided [RCV002745544]	likely benign	6	43010584	43010584	Human		name
155967790	CV2077011	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+12G>C	not provided [RCV002863165]	likely benign	6	43009461	43009461	Human		name
155905310	CV2084142	single nucleotide variant	NM_006245.4(PPP2R5D):c.1081-13C>T	not provided [RCV002858117]	likely benign	6	43009044	43009044	Human		name
402493866	CV2874275	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+17G>T	not provided [RCV003545190]	likely benign	6	43009466	43009466	Human		name
402487628	CV2945193	single nucleotide variant	NM_006245.4(PPP2R5D):c.1080+15G>A	not provided [RCV003660138]	likely benign	6	43008761	43008761	Human		name
404995236	CV2996173	single nucleotide variant	NM_006245.4(PPP2R5D):c.1026+16C>G	not provided [RCV003692646]	likely benign	6	43008491	43008491	Human		name
405119118	CV3030613	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+18G>A	not provided [RCV003700564]	likely benign	6	43011015	43011015	Human		name
405135361	CV3115656	single nucleotide variant	NM_006245.4(PPP2R5D):c.1081-15C>T	not provided [RCV003816313]	likely benign	6	43009042	43009042	Human		name
405010851	CV3128002	single nucleotide variant	NM_006245.4(PPP2R5D):c.1027-12A>G	not provided [RCV003828882]	likely benign	6	43008681	43008681	Human		name
405131160	CV3133434	single nucleotide variant	NM_006245.4(PPP2R5D):c.1026+13C>T	not provided [RCV003838404]	likely benign	6	43008488	43008488	Human		name
405052843	CV3138394	single nucleotide variant	NM_006245.4(PPP2R5D):c.1554+20G>A	not provided [RCV003832238]	likely benign	6	43010756	43010756	Human		name
405197686	CV3146774	single nucleotide variant	NM_006245.4(PPP2R5D):c.1671+12A>G	not provided [RCV003844129]	likely benign	6	43011009	43011009	Human		name
597927015	CV3783395	single nucleotide variant	NM_006245.4(PPP2R5D):c.1081-11T>G	not provided [RCV005116082]	likely benign	6	43009046	43009046	Human		name
150420154	CV1180191	single nucleotide variant	NM_006245.4(PPP2R5D):c.1380-197T>C	not provided [RCV001551406]	likely benign	6	43010271	43010271	Human		name
150416197	CV1180192	single nucleotide variant	NM_006245.4(PPP2R5D):c.1380-136G>A	not provided [RCV001549483]	likely benign	6	43010332	43010332	Human		name
150424691	CV1183839	single nucleotide variant	NM_006245.4(PPP2R5D):c.1379+110T>G	not provided [RCV001556994]	likely benign	6	43009559	43009559	Human		name
156415540	CV1958690	microsatellite	NM_006245.4(PPP2R5D):c.1672-9CA[3]	not provided [RCV002589224]	likely benign	6	43011140	43011141	Human		name
150549782	CV1299872	single nucleotide variant	NM_006245.4(PPP2R5D):c.6C>T (p.Pro2=)	not provided [RCV001765341]	uncertain significance	6	42984683	42984683	Human		name
329848283	CV2667902	single nucleotide variant	NM_006245.4(PPP2R5D):c.13C>T (p.Leu5=)	not provided [RCV003229469]	uncertain significance	6	42984690	42984690	Human		name
150423681	CV1183838	single nucleotide variant	NM_006245.4(PPP2R5D):c.72G>A (p.Ser24=)	not provided [RCV001555654]	likely benign	6	42989655	42989655	Human		name
150417583	CV1197545	single nucleotide variant	NM_006245.4(PPP2R5D):c.8A>T (p.Tyr3Phe)	not provided [RCV001576360]	likely benign\|conflicting interpretations of pathogenicity	6	42984685	42984685	Human		name
150462438	CV1273010	deletion	NM_006245.4(PPP2R5D):c.858-25_858-22del	not provided [RCV001693767]	benign	6	43008176	43008179	Human		name
151746541	CV1455796	deletion	NM_006245.4(PPP2R5D):c.322+20_322+21del	not provided [RCV002022887]	uncertain significance	6	43006699	43006700	Human		name
152120473	CV1521292	single nucleotide variant	NM_006245.4(PPP2R5D):c.63T>G (p.Pro21=)	not provided [RCV002135645]	likely benign	6	42989646	42989646	Human		name
152070184	CV1622790	single nucleotide variant	NM_006245.4(PPP2R5D):c.57C>T (p.Ala19=)	not provided [RCV002209876]	likely benign	6	42989640	42989640	Human		name
155904939	CV2031375	single nucleotide variant	NM_006245.4(PPP2R5D):c.69C>T (p.Ser23=)	not provided [RCV002726412]	likely benign	6	42989652	42989652	Human		name
405267722	CV3186896	single nucleotide variant	NM_006245.4(PPP2R5D):c.36C>A (p.Pro12=)	not provided [RCV003886979]	likely benign	6	42989619	42989619	Human		name
597832585	CV3760239	insertion	NM_006245.4(PPP2R5D):c.726+9_726+10insG	not provided [RCV005084982]	likely benign	6	43007515	43007516	Human		name
597936446	CV3764846	deletion	NM_006245.4(PPP2R5D):c.727-14_727-11del	not provided [RCV005117545]	likely benign	6	43007921	43007924	Human		name
150331722	CV1163483	single nucleotide variant	NM_006245.4(PPP2R5D):c.159G>A (p.Pro53=)	not provided [RCV001527920]	likely benign	6	43006516	43006516	Human		name
150428285	CV1187084	single nucleotide variant	NM_006245.4(PPP2R5D):c.135G>A (p.Gln45=)	PPP2R5D-related disorder [RCV004551908]\|not provided [RCV001562064]	likely benign	6	43006492	43006492	Human	1	name , trait , alternate_id
150426264	CV1187085	single nucleotide variant	NM_006245.4(PPP2R5D):c.192G>A (p.Pro64=)	not provided [RCV001559349]	likely benign	6	43006549	43006549	Human		name
150529336	CV1288893	single nucleotide variant	NM_006245.4(PPP2R5D):c.198C>T (p.Pro66=)	not provided [RCV001727361]	likely benign	6	43006555	43006555	Human		name
152036657	CV1521726	single nucleotide variant	NM_006245.4(PPP2R5D):c.297G>A (p.Glu99=)	not provided [RCV002187614]	likely benign	6	43006654	43006654	Human		name
152038568	CV1524196	single nucleotide variant	NM_006245.4(PPP2R5D):c.114G>A (p.Pro38=)	not provided [RCV002125739]	likely benign	6	43006471	43006471	Human		name
152120576	CV1576221	single nucleotide variant	NM_006245.4(PPP2R5D):c.141A>G (p.Gln47=)	not provided [RCV002197994]	likely benign	6	43006498	43006498	Human		name
156199653	CV1928862	single nucleotide variant	NM_006245.4(PPP2R5D):c.189G>A (p.Thr63=)	not provided [RCV002643587]	likely benign	6	43006546	43006546	Human		name
156104713	CV2084339	single nucleotide variant	NM_006245.4(PPP2R5D):c.26A>C (p.Lys9Thr)	not provided [RCV002848213]	uncertain significance	6	42984703	42984703	Human		name
405070708	CV2940981	single nucleotide variant	NM_006245.4(PPP2R5D):c.231G>C (p.Gly77=)	not provided [RCV003663965]	likely benign	6	43006588	43006588	Human		name
405136363	CV2963099	single nucleotide variant	NM_006245.4(PPP2R5D):c.126C>T (p.Pro42=)	not provided [RCV003668824]	likely benign	6	43006483	43006483	Human		name
405222322	CV3038744	single nucleotide variant	NM_006245.4(PPP2R5D):c.129G>A (p.Gln43=)	not provided [RCV003710158]	likely benign	6	43006486	43006486	Human		name
597906383	CV3738753	single nucleotide variant	NM_006245.4(PPP2R5D):c.198C>A (p.Pro66=)	not provided [RCV005072988]	likely benign	6	43006555	43006555	Human		name
597950691	CV3759762	single nucleotide variant	NM_006245.4(PPP2R5D):c.201G>A (p.Thr67=)	not provided [RCV005079362]	likely benign	6	43006558	43006558	Human		name
597972281	CV3790211	single nucleotide variant	NM_006245.4(PPP2R5D):c.183T>C (p.Asn61=)	not provided [RCV005142634]	likely benign	6	43006540	43006540	Human		name
597972597	CV3790301	single nucleotide variant	NM_006245.4(PPP2R5D):c.19A>C (p.Lys7Gln)	not provided [RCV005142724]	uncertain significance	6	42984696	42984696	Human		name
15168550	CV735672	single nucleotide variant	NM_006245.4(PPP2R5D):c.231G>A (p.Gly77=)	not provided [RCV000904878]	likely benign	6	43006588	43006588	Human		name
15200251	CV750079	single nucleotide variant	NM_006245.4(PPP2R5D):c.198C>G (p.Pro66=)	not provided [RCV000912791]	likely benign	6	43006555	43006555	Human		name
150428397	CV1187086	single nucleotide variant	NM_006245.4(PPP2R5D):c.867C>T (p.Tyr289=)	not provided [RCV001562215]	likely benign	6	43008210	43008210	Human		name
150427533	CV1187087	single nucleotide variant	NM_006245.4(PPP2R5D):c.930C>T (p.Gly310=)	not provided [RCV001561050]	likely benign	6	43008379	43008379	Human		name
150417649	CV1193783	single nucleotide variant	NM_006245.4(PPP2R5D):c.570A>G (p.Thr190=)	not provided [RCV001568860]	likely benign	6	43007243	43007243	Human		name
150516170	CV1216465	single nucleotide variant	NM_006245.4(PPP2R5D):c.510G>A (p.Glu170=)	not provided [RCV001608656]	benign	6	43007098	43007098	Human		name
150480381	CV1239566	single nucleotide variant	NM_006245.4(PPP2R5D):c.516C>T (p.Val172=)	not provided [RCV001652729]	benign\|likely benign	6	43007104	43007104	Human		name
150490463	CV1251034	single nucleotide variant	NM_006245.4(PPP2R5D):c.999C>G (p.Val333=)	not provided [RCV001674701]	benign	6	43008448	43008448	Human		name
150555810	CV1305293	single nucleotide variant	NM_006245.4(PPP2R5D):c.327G>A (p.Ser109=)	not provided [RCV001773226]	conflicting interpretations of pathogenicity\|uncertain significance	6	43006915	43006915	Human		name
151813784	CV1382231	single nucleotide variant	NM_006245.4(PPP2R5D):c.91G>A (p.Glu31Lys)	not provided [RCV001992081]	uncertain significance	6	42989674	42989674	Human		name
151790645	CV1393124	single nucleotide variant	NM_006245.4(PPP2R5D):c.885C>T (p.Asn295=)	not provided [RCV001931384]	likely benign	6	43008228	43008228	Human		name
151734998	CV1435428	single nucleotide variant	NM_006245.4(PPP2R5D):c.808T>C (p.Leu270=)	not provided [RCV001946465]	likely benign	6	43008016	43008016	Human		name
151786010	CV1495376	single nucleotide variant	NM_006245.4(PPP2R5D):c.65G>A (p.Ser22Asn)	not provided [RCV002026720]	uncertain significance	6	42989648	42989648	Human		name
152058207	CV1532561	single nucleotide variant	NM_006245.4(PPP2R5D):c.405A>G (p.Pro135=)	not provided [RCV002208345]	likely benign	6	43006993	43006993	Human		name
152118040	CV1534850	single nucleotide variant	NM_006245.4(PPP2R5D):c.936C>T (p.Ala312=)	not provided [RCV002153898]	likely benign	6	43008385	43008385	Human		name
152112212	CV1539222	single nucleotide variant	NM_006245.4(PPP2R5D):c.561G>A (p.Ser187=)	not provided [RCV002080406]	likely benign	6	43007234	43007234	Human		name
152044897	CV1539406	single nucleotide variant	NM_006245.4(PPP2R5D):c.436C>A (p.Arg146=)	not provided [RCV002144975]	likely benign	6	43007024	43007024	Human		name
152031387	CV1548706	single nucleotide variant	NM_006245.4(PPP2R5D):c.528A>G (p.Ser176=)	not provided [RCV002086354]	likely benign	6	43007201	43007201	Human		name
152030113	CV1568886	single nucleotide variant	NM_006245.4(PPP2R5D):c.813G>T (p.Gly271=)	PPP2R5D-related disorder [RCV004738554]\|not provided [RCV002186377]	likely benign	6	43008021	43008021	Human	1	name , trait , alternate_id
152113967	CV1574613	single nucleotide variant	NM_006245.4(PPP2R5D):c.357C>T (p.Ile119=)	not provided [RCV002116932]	likely benign	6	43006945	43006945	Human		name
152087376	CV1589994	single nucleotide variant	NM_006245.4(PPP2R5D):c.462G>A (p.Glu154=)	not provided [RCV002193813]	likely benign	6	43007050	43007050	Human		name
152170168	CV1610851	single nucleotide variant	NM_006245.4(PPP2R5D):c.345G>A (p.Glu115=)	not provided [RCV002143032]	likely benign	6	43006933	43006933	Human		name
152090979	CV1629136	deletion	NM_006245.4(PPP2R5D):c.1081-12_1081-10del	not provided [RCV002114070]	likely benign	6	43009045	43009047	Human		name
152027009	CV1635956	single nucleotide variant	NM_006245.4(PPP2R5D):c.468C>T (p.Ile156=)	not provided [RCV002084989]	likely benign	6	43007056	43007056	Human		name
152035954	CV1648344	single nucleotide variant	NM_006245.4(PPP2R5D):c.438G>T (p.Arg146=)	PPP2R5D-related disorder [RCV004553794]\|not provided [RCV002125325]	likely benign	6	43007026	43007026	Human	1	name , trait , alternate_id
152146188	CV1649496	single nucleotide variant	NM_006245.4(PPP2R5D):c.567C>A (p.Pro189=)	not provided [RCV002121076]	likely benign	6	43007240	43007240	Human		name
156369312	CV1905059	single nucleotide variant	NM_006245.4(PPP2R5D):c.474T>C (p.His158=)	PPP2R5D-related disorder [RCV004550411]\|not provided [RCV002582303]	likely benign	6	43007062	43007062	Human	1	name , trait , alternate_id
156257938	CV1977417	single nucleotide variant	NM_006245.4(PPP2R5D):c.450C>T (p.Asn150=)	not provided [RCV002597684]	likely benign	6	43007038	43007038	Human		name
156213107	CV2038847	single nucleotide variant	NM_006245.4(PPP2R5D):c.603C>A (p.Pro201=)	not provided [RCV002766678]	likely benign	6	43007276	43007276	Human		name
156045334	CV2068032	single nucleotide variant	NM_006245.4(PPP2R5D):c.735C>T (p.Asp245=)	not provided [RCV002846249]	likely benign	6	43007943	43007943	Human		name
155950341	CV2084356	single nucleotide variant	NM_006245.4(PPP2R5D):c.873G>A (p.Thr291=)	not provided [RCV002880464]	likely benign	6	43008216	43008216	Human		name
156122507	CV2088487	single nucleotide variant	NM_006245.4(PPP2R5D):c.333C>T (p.Thr111=)	not provided [RCV002889618]	likely benign	6	43006921	43006921	Human		name
156244581	CV2147693	single nucleotide variant	NM_006245.4(PPP2R5D):c.37A>G (p.Lys13Glu)	not provided [RCV003026129]	uncertain significance	6	42989620	42989620	Human		name
156258585	CV2159366	single nucleotide variant	NM_006245.4(PPP2R5D):c.468C>A (p.Ile156=)	not provided [RCV003026583]	likely benign	6	43007056	43007056	Human		name
155982332	CV2163178	single nucleotide variant	NM_006245.4(PPP2R5D):c.909C>T (p.Ile303=)	not provided [RCV003033938]	likely benign	6	43008252	43008252	Human		name
156113900	CV2177577	single nucleotide variant	NM_006245.4(PPP2R5D):c.894T>C (p.Ala298=)	not provided [RCV003055197]	likely benign	6	43008237	43008237	Human		name
405203538	CV2858359	single nucleotide variant	NM_006245.4(PPP2R5D):c.987C>T (p.Pro329=)	not provided [RCV003551653]	likely benign	6	43008436	43008436	Human		name
405020726	CV2866395	single nucleotide variant	NM_006245.4(PPP2R5D):c.31C>G (p.Pro11Ala)	not provided [RCV003577553]	uncertain significance	6	42989614	42989614	Human		name
405215515	CV2876120	single nucleotide variant	NM_006245.4(PPP2R5D):c.40G>A (p.Val14Ile)	not provided [RCV003553142]	uncertain significance	6	42989623	42989623	Human		name
405200423	CV2877172	single nucleotide variant	NM_006245.4(PPP2R5D):c.912G>A (p.Leu304=)	not provided [RCV003551331]	likely benign	6	43008255	43008255	Human		name
405086053	CV2943187	single nucleotide variant	NM_006245.4(PPP2R5D):c.429G>A (p.Glu143=)	not provided [RCV003664958]	uncertain significance	6	43007017	43007017	Human		name
402487956	CV2987633	single nucleotide variant	NM_006245.4(PPP2R5D):c.975T>G (p.Arg325=)	not provided [RCV003713491]	likely benign	6	43008424	43008424	Human		name
405235795	CV3040986	single nucleotide variant	NM_006245.4(PPP2R5D):c.477C>T (p.Ser159=)	not provided [RCV003712336]	likely benign	6	43007065	43007065	Human		name
405191662	CV3157113	single nucleotide variant	NM_006245.4(PPP2R5D):c.546G>A (p.Thr182=)	not provided [RCV003859801]	likely benign	6	43007219	43007219	Human		name
405217183	CV3160939	single nucleotide variant	NM_006245.4(PPP2R5D):c.38A>G (p.Lys13Arg)	not provided [RCV003863001]	uncertain significance	6	42989621	42989621	Human		name
405204388	CV3165534	single nucleotide variant	NM_006245.4(PPP2R5D):c.603C>G (p.Pro201=)	not provided [RCV003861200]	likely benign	6	43007276	43007276	Human		name
407426410	CV3409932	single nucleotide variant	NM_006245.4(PPP2R5D):c.687C>T (p.Asn229=)	not provided [RCV004585864]	likely benign	6	43007467	43007467	Human		name
597876490	CV3747867	single nucleotide variant	NM_006245.4(PPP2R5D):c.937C>T (p.Leu313=)	not provided [RCV005069358]	likely benign	6	43008386	43008386	Human		name
597869996	CV3749716	single nucleotide variant	NM_006245.4(PPP2R5D):c.825T>C (p.Tyr275=)	not provided [RCV005068397]	likely benign	6	43008033	43008033	Human		name
597886686	CV3787447	single nucleotide variant	NM_006245.4(PPP2R5D):c.630C>T (p.Leu210=)	not provided [RCV005125013]	likely benign	6	43007303	43007303	Human		name
597968294	CV3794958	single nucleotide variant	NM_006245.4(PPP2R5D):c.315C>T (p.Ala105=)	not provided [RCV005140926]	likely benign	6	43006672	43006672	Human		name
597888813	CV3804766	single nucleotide variant	NM_006245.4(PPP2R5D):c.939G>A (p.Leu313=)	not provided [RCV005151028]	likely benign	6	43008388	43008388	Human		name
597910028	CV3806532	single nucleotide variant	NM_006245.4(PPP2R5D):c.74G>T (p.Gly25Val)	not provided [RCV005154099]	uncertain significance	6	42989657	42989657	Human		name
597964246	CV3830425	single nucleotide variant	NM_006245.4(PPP2R5D):c.387T>C (p.Phe129=)	not provided [RCV005164565]	likely benign	6	43006975	43006975	Human		name
597880767	CV3857348	duplication	NM_006245.4(PPP2R5D):c.198dup (p.Thr67fs)	not provided [RCV005198955]	uncertain significance	6	43006549	43006550	Human		name
598124826	CV3885418	single nucleotide variant	NM_006245.4(PPP2R5D):c.747T>C (p.Ser249=)	not specified [RCV005239995]	likely benign	6	43007955	43007955	Human		name
15106971	CV722040	single nucleotide variant	NM_006245.4(PPP2R5D):c.819G>A (p.Arg273=)	not provided [RCV000893385]	likely benign	6	43008027	43008027	Human		name
15144518	CV735671	single nucleotide variant	NM_006245.4(PPP2R5D):c.71C>T (p.Ser24Leu)	not provided [RCV000900015]	benign\|likely benign	6	42989654	42989654	Human		name
126744060	CV1020271	single nucleotide variant	NM_006245.4(PPP2R5D):c.101A>C (p.Glu34Ala)	Hogue-Janssens syndrome 1 [RCV001336932]\|not provided [RCV001865856]	uncertain significance	6	42989684	42989684	Human	1	name
126744061	CV1020272	single nucleotide variant	NM_006245.4(PPP2R5D):c.160T>C (p.Ser54Pro)	Hogue-Janssens syndrome 1 [RCV001336933]	uncertain significance	6	43006517	43006517	Human	1	name
150417263	CV1193784	single nucleotide variant	NM_006245.4(PPP2R5D):c.1185G>A (p.Glu395=)	not provided [RCV001568693]	likely benign	6	43009161	43009161	Human		name
150503005	CV1223359	single nucleotide variant	NM_006245.4(PPP2R5D):c.1773G>A (p.Ala591=)	not provided [RCV001621294]	benign\|likely benign	6	43011250	43011250	Human		name
150430167	CV1232042	single nucleotide variant	NM_006245.4(PPP2R5D):c.271C>T (p.Arg91Cys)	not provided [RCV001641304]	benign\|conflicting interpretations of pathogenicity	6	43006628	43006628	Human		name
150455353	CV1259855	single nucleotide variant	NM_006245.4(PPP2R5D):c.1614C>T (p.Thr538=)	not provided [RCV001681334]	benign\|likely benign	6	43010940	43010940	Human		name
150549377	CV1299415	single nucleotide variant	NM_006245.4(PPP2R5D):c.281T>A (p.Leu94His)	not provided [RCV001752341]	uncertain significance	6	43006638	43006638	Human		name
150549800	CV1299883	single nucleotide variant	NM_006245.4(PPP2R5D):c.254G>A (p.Arg85Gln)	not provided [RCV001765352]	uncertain significance	6	43006611	43006611	Human		name
150552480	CV1301462	single nucleotide variant	NM_006245.4(PPP2R5D):c.184A>G (p.Ser62Gly)	not provided [RCV001767872]	uncertain significance	6	43006541	43006541	Human		name
151809544	CV1338780	single nucleotide variant	NM_006245.4(PPP2R5D):c.173G>A (p.Arg58His)	not provided [RCV002012301]	uncertain significance	6	43006530	43006530	Human		name
151799222	CV1347504	single nucleotide variant	NM_006245.4(PPP2R5D):c.227G>C (p.Gly76Ala)	not provided [RCV002027934]	uncertain significance	6	43006584	43006584	Human		name
151824905	CV1354515	single nucleotide variant	NM_006245.4(PPP2R5D):c.1027C>T (p.Leu343=)	not provided [RCV001869974]	uncertain significance	6	43008693	43008693	Human		name
151751784	CV1385493	single nucleotide variant	NM_006245.4(PPP2R5D):c.158C>T (p.Pro53Leu)	not provided [RCV001969257]	uncertain significance	6	43006515	43006515	Human		name
151728404	CV1388629	single nucleotide variant	NM_006245.4(PPP2R5D):c.1047A>G (p.Gln349=)	not provided [RCV001966860]	likely benign\|uncertain significance	6	43008713	43008713	Human		name
151850920	CV1391565	single nucleotide variant	NM_006245.4(PPP2R5D):c.214A>G (p.Ile72Val)	not provided [RCV002033164]	uncertain significance	6	43006571	43006571	Human		name
151743309	CV1394583	single nucleotide variant	NM_006245.4(PPP2R5D):c.117G>T (p.Gln39His)	not provided [RCV001912139]	uncertain significance	6	43006474	43006474	Human		name
151856166	CV1395323	single nucleotide variant	NM_006245.4(PPP2R5D):c.149C>T (p.Ser50Phe)	not provided [RCV001996566]	uncertain significance	6	43006506	43006506	Human		name
151745176	CV1400995	single nucleotide variant	NM_006245.4(PPP2R5D):c.188C>T (p.Thr63Met)	PPP2R5D-related disorder [RCV004553626]\|not provided [RCV002022735]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	43006545	43006545	Human	1	name , trait , alternate_id
151734287	CV1409570	single nucleotide variant	NM_006245.4(PPP2R5D):c.124C>A (p.Pro42Thr)	not provided [RCV001911201]	uncertain significance	6	43006481	43006481	Human		name
151773873	CV1424081	single nucleotide variant	NM_006245.4(PPP2R5D):c.146A>G (p.Gln49Arg)	not provided [RCV002025622]	uncertain significance	6	43006503	43006503	Human		name
151828804	CV1462208	single nucleotide variant	NM_006245.4(PPP2R5D):c.257G>A (p.Arg86Gln)	Inborn genetic diseases [RCV004044633]\|not provided [RCV001993503]	uncertain significance	6	43006614	43006614	Human	1	name
151870455	CV1476907	single nucleotide variant	NM_006245.4(PPP2R5D):c.1089G>A (p.Val363=)	not provided [RCV001925135]	likely benign\|uncertain significance	6	43009065	43009065	Human		name
151861009	CV1483103	single nucleotide variant	NM_006245.4(PPP2R5D):c.113C>T (p.Pro38Leu)	not provided [RCV001883919]	uncertain significance	6	43006470	43006470	Human		name
151773730	CV1504957	single nucleotide variant	NM_006245.4(PPP2R5D):c.172C>T (p.Arg58Cys)	not provided [RCV001988485]	uncertain significance	6	43006529	43006529	Human		name
152095603	CV1521184	single nucleotide variant	NM_006245.4(PPP2R5D):c.1788T>C (p.Thr596=)	not provided [RCV002078302]	likely benign	6	43011265	43011265	Human		name
152136117	CV1528420	single nucleotide variant	NM_006245.4(PPP2R5D):c.1438C>T (p.Leu480=)	not provided [RCV002100138]	likely benign	6	43010526	43010526	Human		name
152174265	CV1536234	single nucleotide variant	NM_006245.4(PPP2R5D):c.1371C>T (p.His457=)	not provided [RCV002144380]	likely benign	6	43009441	43009441	Human		name
152120092	CV1547205	single nucleotide variant	NM_006245.4(PPP2R5D):c.1764C>T (p.His588=)	not provided [RCV002154142]	likely benign	6	43011241	43011241	Human		name
152108915	CV1550867	single nucleotide variant	NM_006245.4(PPP2R5D):c.1455A>G (p.Thr485=)	not provided [RCV002152780]	likely benign	6	43010543	43010543	Human		name
152155828	CV1572927	single nucleotide variant	NM_006245.4(PPP2R5D):c.1320C>G (p.Ala440=)	not provided [RCV002180109]	likely benign	6	43009390	43009390	Human		name
152085139	CV1623024	single nucleotide variant	NM_006245.4(PPP2R5D):c.1527C>T (p.Ile509=)	not provided [RCV002113280]	likely benign	6	43010709	43010709	Human		name
152090803	CV1629106	single nucleotide variant	NM_006245.4(PPP2R5D):c.1593G>A (p.Val531=)	not provided [RCV002114047]	likely benign	6	43010919	43010919	Human		name
152167094	CV1632946	single nucleotide variant	NM_006245.4(PPP2R5D):c.1212C>T (p.Phe404=)	not provided [RCV002182081]	likely benign	6	43009188	43009188	Human		name
155691114	CV1777986	single nucleotide variant	NM_006245.4(PPP2R5D):c.278A>T (p.Asn93Ile)	not provided [RCV002299304]\|not specified [RCV003491077]	uncertain significance	6	43006635	43006635	Human		name
156403790	CV1898012	single nucleotide variant	NM_006245.4(PPP2R5D):c.293G>A (p.Arg98Gln)	not provided [RCV002585282]	uncertain significance	6	43006650	43006650	Human		name
156403797	CV1898016	single nucleotide variant	NM_006245.4(PPP2R5D):c.1734C>T (p.Asp578=)	not provided [RCV002585284]	likely benign	6	43011211	43011211	Human		name
156412517	CV1904468	single nucleotide variant	NM_006245.4(PPP2R5D):c.166A>C (p.Asn56His)	not provided [RCV002587846]	uncertain significance	6	43006523	43006523	Human		name
155952361	CV1922039	single nucleotide variant	NM_006245.4(PPP2R5D):c.164C>T (p.Ser55Phe)	not provided [RCV002616293]	uncertain significance	6	43006521	43006521	Human		name
156348146	CV1954883	single nucleotide variant	NM_006245.4(PPP2R5D):c.1542G>A (p.Arg514=)	not provided [RCV002580871]	likely benign	6	43010724	43010724	Human		name
156331601	CV1966547	single nucleotide variant	NM_006245.4(PPP2R5D):c.1215C>T (p.Arg405=)	not provided [RCV002600824]	likely benign	6	43009191	43009191	Human		name
156119713	CV1969110	single nucleotide variant	NM_006245.4(PPP2R5D):c.266C>T (p.Ser89Phe)	not provided [RCV002593081]	uncertain significance	6	43006623	43006623	Human		name
156416381	CV1976556	single nucleotide variant	NM_006245.4(PPP2R5D):c.1635G>A (p.Gln545=)	not provided [RCV002589660]	likely benign	6	43010961	43010961	Human		name
156385197	CV1990007	single nucleotide variant	NM_006245.4(PPP2R5D):c.1110C>T (p.Pro370=)	not provided [RCV002634567]	likely benign	6	43009086	43009086	Human		name
155942692	CV2002721	single nucleotide variant	NM_006245.4(PPP2R5D):c.1662G>A (p.Glu554=)	not provided [RCV002685565]	likely benign	6	43010988	43010988	Human		name
156220435	CV2015472	single nucleotide variant	NM_006245.4(PPP2R5D):c.1800G>A (p.Glu600=)	not provided [RCV002700985]	likely benign	6	43011277	43011277	Human		name
156024443	CV2077936	single nucleotide variant	NM_006245.4(PPP2R5D):c.1179T>C (p.Pro393=)	not provided [RCV002866764]	likely benign	6	43009155	43009155	Human		name
156039458	CV2097917	single nucleotide variant	NM_006245.4(PPP2R5D):c.1287G>A (p.Glu429=)	not provided [RCV002885754]	likely benign	6	43009357	43009357	Human		name
10448297	CV214096	single nucleotide variant	NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)	Hogue-Janssens syndrome 1 [RCV000201513]	pathogenic	6	43006514	43006514	Human	1	name
156174198	CV2166210	single nucleotide variant	NM_006245.4(PPP2R5D):c.112C>T (p.Pro38Ser)	not provided [RCV003023613]	uncertain significance	6	43006469	43006469	Human		name
156338635	CV2188261	single nucleotide variant	NM_006245.4(PPP2R5D):c.197C>A (p.Pro66His)	not provided [RCV003064109]	uncertain significance	6	43006554	43006554	Human		name
401738581	CV2721922	single nucleotide variant	NM_006245.4(PPP2R5D):c.175C>T (p.Pro59Ser)	Inborn genetic diseases [RCV003273781]\|not provided [RCV003730511]	uncertain significance	6	43006532	43006532	Human	1	name
401732086	CV2736664	single nucleotide variant	NM_006245.4(PPP2R5D):c.292C>G (p.Arg98Gly)	not provided [RCV003313426]	uncertain significance	6	43006649	43006649	Human		name
401909309	CV2803945	single nucleotide variant	NM_006245.4(PPP2R5D):c.236A>T (p.Gln79Leu)	PPP2R5D-related disorder [RCV004552424]	uncertain significance	6	43006593	43006593	Human		name , trait , alternate_id
401920637	CV2823038	single nucleotide variant	NM_006245.4(PPP2R5D):c.1092A>G (p.Gly364=)	PPP2R5D-related disorder [RCV004554213]\|not provided [RCV003431866]	likely benign	6	43009068	43009068	Human	1	name , trait , alternate_id
401915765	CV2823039	single nucleotide variant	NM_006245.4(PPP2R5D):c.1401T>C (p.Tyr467=)	not provided [RCV003428853]	likely benign	6	43010489	43010489	Human		name
401920638	CV2823040	single nucleotide variant	NM_006245.4(PPP2R5D):c.1419T>C (p.Phe473=)	not provided [RCV003431867]	likely benign	6	43010507	43010507	Human		name
404999207	CV2850854	single nucleotide variant	NM_006245.4(PPP2R5D):c.168C>A (p.Asn56Lys)	Hogue-Janssens syndrome 1 [RCV003493140]	uncertain significance	6	43006525	43006525	Human	1	name
405203562	CV2858365	single nucleotide variant	NM_006245.4(PPP2R5D):c.1572C>A (p.Ala524=)	not provided [RCV003551656]	likely benign	6	43010898	43010898	Human		name
402514551	CV2860405	single nucleotide variant	NM_006245.4(PPP2R5D):c.1656G>A (p.Glu552=)	not provided [RCV003575379]	likely benign	6	43010982	43010982	Human		name
405202081	CV2873338	single nucleotide variant	NM_006245.4(PPP2R5D):c.288G>C (p.Lys96Asn)	not provided [RCV003551352]	uncertain significance	6	43006645	43006645	Human		name
405220966	CV2912775	single nucleotide variant	NM_006245.4(PPP2R5D):c.1560C>T (p.Pro520=)	not provided [RCV003568424]	likely benign	6	43010886	43010886	Human		name
405035583	CV2923548	single nucleotide variant	NM_006245.4(PPP2R5D):c.1731G>A (p.Gln577=)	not provided [RCV003578674]	likely benign	6	43011208	43011208	Human		name
405011361	CV2933713	single nucleotide variant	NM_006245.4(PPP2R5D):c.1038T>C (p.Cys346=)	not provided [RCV003576760]	likely benign	6	43008704	43008704	Human		name
405012215	CV2933899	single nucleotide variant	NM_006245.4(PPP2R5D):c.118C>A (p.Pro40Thr)	not provided [RCV003576831]	uncertain significance	6	43006475	43006475	Human		name
405175080	CV2951764	single nucleotide variant	NM_006245.4(PPP2R5D):c.1098C>G (p.Leu366=)	not provided [RCV003675759]	likely benign	6	43009074	43009074	Human		name
405138557	CV2954431	single nucleotide variant	NM_006245.4(PPP2R5D):c.1290C>T (p.Tyr430=)	not provided [RCV003672938]	likely benign	6	43009360	43009360	Human		name
405240703	CV2974002	single nucleotide variant	NM_006245.4(PPP2R5D):c.1410G>C (p.Leu470=)	not provided [RCV003684005]	likely benign	6	43010498	43010498	Human		name
402495878	CV2978636	single nucleotide variant	NM_006245.4(PPP2R5D):c.1446T>C (p.Asp482=)	not provided [RCV003714193]	likely benign	6	43010534	43010534	Human		name
405011951	CV2980434	single nucleotide variant	NM_006245.4(PPP2R5D):c.266C>G (p.Ser89Cys)	not provided [RCV003694060]	uncertain significance	6	43006623	43006623	Human		name
405249091	CV2983502	single nucleotide variant	NM_006245.4(PPP2R5D):c.1344T>G (p.Pro448=)	not provided [RCV003686111]	likely benign	6	43009414	43009414	Human		name
404981535	CV2986127	single nucleotide variant	NM_006245.4(PPP2R5D):c.200C>T (p.Thr67Met)	not provided [RCV003691309]	uncertain significance	6	43006557	43006557	Human		name
404979357	CV3009560	single nucleotide variant	NM_006245.4(PPP2R5D):c.272G>C (p.Arg91Pro)	not provided [RCV003690971]	uncertain significance	6	43006629	43006629	Human		name
402500894	CV3010444	single nucleotide variant	NM_006245.4(PPP2R5D):c.1141T>C (p.Leu381=)	not provided [RCV003688479]	likely benign	6	43009117	43009117	Human		name
402498680	CV3015953	single nucleotide variant	NM_006245.4(PPP2R5D):c.1719G>T (p.Ser573=)	not provided [RCV003688267]	likely benign	6	43011196	43011196	Human		name
405223644	CV3035806	single nucleotide variant	NM_006245.4(PPP2R5D):c.100G>A (p.Glu34Lys)	not provided [RCV003710339]	uncertain significance	6	42989683	42989683	Human		name
405082312	CV3046830	single nucleotide variant	NM_006245.4(PPP2R5D):c.1644G>A (p.Lys548=)	not provided [RCV003717228]	likely benign	6	43010970	43010970	Human		name
405154231	CV3068748	single nucleotide variant	NM_006245.4(PPP2R5D):c.1167C>T (p.Asp389=)	not provided [RCV003726632]	likely benign	6	43009143	43009143	Human		name
405210010	CV3117410	single nucleotide variant	NM_006245.4(PPP2R5D):c.292C>T (p.Arg98Trp)	not provided [RCV003823197]	uncertain significance	6	43006649	43006649	Human		name
405021271	CV3129205	single nucleotide variant	NM_006245.4(PPP2R5D):c.1608A>G (p.Thr536=)	not provided [RCV003829768]	likely benign	6	43010934	43010934	Human		name
405113053	CV3133694	single nucleotide variant	NM_006245.4(PPP2R5D):c.1698A>G (p.Lys566=)	not provided [RCV003836487]	likely benign	6	43011175	43011175	Human		name
405038178	CV3140890	single nucleotide variant	NM_006245.4(PPP2R5D):c.218A>G (p.Lys73Arg)	not provided [RCV003831183]	uncertain significance	6	43006575	43006575	Human		name
405204866	CV3165601	single nucleotide variant	NM_006245.4(PPP2R5D):c.1728C>G (p.Pro576=)	not provided [RCV003861267]	likely benign	6	43011205	43011205	Human		name
405852653	CV3396322	single nucleotide variant	NM_006245.4(PPP2R5D):c.256C>T (p.Arg86Trp)	Hogue-Janssens syndrome 1 [RCV004557286]	uncertain significance	6	43006613	43006613	Human	1	name
408366243	CV3500123	single nucleotide variant	NM_006245.4(PPP2R5D):c.123G>C (p.Gln41His)	not provided [RCV004722166]	uncertain significance	6	43006480	43006480	Human		name
408369212	CV3507331	single nucleotide variant	NM_006245.4(PPP2R5D):c.241G>A (p.Val81Ile)	PPP2R5D-related disorder [RCV004736705]	uncertain significance	6	43006598	43006598	Human		name , trait , alternate_id
597694338	CV3587963	single nucleotide variant	NM_006245.4(PPP2R5D):c.227G>T (p.Gly76Val)	Inborn genetic diseases [RCV004954603]	uncertain significance	6	43006584	43006584	Human	1	name
597871870	CV3737319	single nucleotide variant	NM_006245.4(PPP2R5D):c.1353C>T (p.Tyr451=)	not provided [RCV005068765]	likely benign	6	43009423	43009423	Human		name
597830867	CV3743600	single nucleotide variant	NM_006245.4(PPP2R5D):c.1596C>T (p.Tyr532=)	not provided [RCV005062417]	likely benign	6	43010922	43010922	Human		name
597858979	CV3748326	single nucleotide variant	NM_006245.4(PPP2R5D):c.1323A>G (p.Arg441=)	not provided [RCV005067148]	likely benign	6	43009393	43009393	Human		name
597955914	CV3754501	single nucleotide variant	NM_006245.4(PPP2R5D):c.153G>C (p.Gln51His)	not provided [RCV005080351]	uncertain significance	6	43006510	43006510	Human		name
597851197	CV3761872	single nucleotide variant	NM_006245.4(PPP2R5D):c.1236T>C (p.Ser412=)	not provided [RCV005087969]	likely benign	6	43009212	43009212	Human		name
597941832	CV3769273	single nucleotide variant	NM_006245.4(PPP2R5D):c.1753C>T (p.Leu585=)	not provided [RCV005118768]	likely benign	6	43011230	43011230	Human		name
597922854	CV3777800	single nucleotide variant	NM_006245.4(PPP2R5D):c.1740C>T (p.Tyr580=)	not provided [RCV005130524]	likely benign	6	43011217	43011217	Human		name
597924124	CV3777997	single nucleotide variant	NM_006245.4(PPP2R5D):c.1723C>T (p.Leu575=)	not provided [RCV005130721]	likely benign	6	43011200	43011200	Human		name
597887313	CV3787570	single nucleotide variant	NM_006245.4(PPP2R5D):c.1068T>C (p.Ser356=)	not provided [RCV005125136]	likely benign	6	43008734	43008734	Human		name
597961875	CV3795293	single nucleotide variant	NM_006245.4(PPP2R5D):c.1248C>T (p.Phe416=)	not provided [RCV005138985]	likely benign	6	43009224	43009224	Human		name
597951229	CV3819007	single nucleotide variant	NM_006245.4(PPP2R5D):c.1584G>A (p.Leu528=)	not provided [RCV005161077]	likely benign	6	43010910	43010910	Human		name
597968132	CV3820758	single nucleotide variant	NM_006245.4(PPP2R5D):c.1041G>C (p.Val347=)	not provided [RCV005165599]	likely benign	6	43008707	43008707	Human		name
597959431	CV3843387	single nucleotide variant	NM_006245.4(PPP2R5D):c.1350C>T (p.Leu450=)	not provided [RCV005192421]	likely benign	6	43009420	43009420	Human		name
597937712	CV3852660	single nucleotide variant	NM_006245.4(PPP2R5D):c.290A>G (p.Asn97Ser)	not provided [RCV005187059]	uncertain significance	6	43006647	43006647	Human		name
598170146	CV3907746	single nucleotide variant	NM_006245.4(PPP2R5D):c.278A>C (p.Asn93Thr)	Inborn genetic diseases [RCV005263011]	uncertain significance	6	43006635	43006635	Human	1	name
15199078	CV722041	single nucleotide variant	NM_006245.4(PPP2R5D):c.1284T>C (p.Asn428=)	PPP2R5D-related disorder [RCV004550073]\|not provided [RCV000890534]\|not specified [RCV001818665]	benign\|likely benign	6	43009354	43009354	Human	1	name , trait , alternate_id
15130245	CV735673	single nucleotide variant	NM_006245.4(PPP2R5D):c.1410G>A (p.Leu470=)	not provided [RCV000897573]	likely benign	6	43010498	43010498	Human		name
15139927	CV750080	single nucleotide variant	NM_006245.4(PPP2R5D):c.1437G>A (p.Lys479=)	PPP2R5D-related disorder [RCV004551848]\|not provided [RCV000921594]	likely benign	6	43010525	43010525	Human	1	name , trait , alternate_id
40887751	CV972939	single nucleotide variant	NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter)	Hogue-Janssens syndrome 1 [RCV001265486]	pathogenic	6	43006610	43006610	Human	1	name
150337325	CV1165800	single nucleotide variant	NM_006245.4(PPP2R5D):c.753T>A (p.Asp251Glu)	not provided [RCV001532550]	uncertain significance	6	43007961	43007961	Human		name
150337975	CV1166680	single nucleotide variant	NM_006245.4(PPP2R5D):c.655C>T (p.Arg219Cys)	Hogue-Janssens syndrome 1 [RCV001533144]\|not provided [RCV003660894]	uncertain significance	6	43007435	43007435	Human	1	name
150497381	CV1208746	single nucleotide variant	NM_006245.4(PPP2R5D):c.757C>G (p.Arg253Gly)	not provided [RCV001593963]	pathogenic	6	43007965	43007965	Human		name
150549243	CV1294770	single nucleotide variant	NM_006245.4(PPP2R5D):c.689T>C (p.Ile230Thr)	not provided [RCV001752262]	uncertain significance	6	43007469	43007469	Human		name
150549293	CV1295079	single nucleotide variant	NM_006245.4(PPP2R5D):c.974G>A (p.Arg325His)	not provided [RCV001765040]	uncertain significance	6	43008423	43008423	Human		name
150554279	CV1295695	single nucleotide variant	NM_006245.4(PPP2R5D):c.771C>G (p.Phe257Leu)	not provided [RCV001770925]	uncertain significance	6	43007979	43007979	Human		name
150556304	CV1296871	single nucleotide variant	NM_006245.4(PPP2R5D):c.350T>A (p.Leu117Gln)	not provided [RCV001774161]	uncertain significance	6	43006938	43006938	Human		name
150547970	CV1303936	single nucleotide variant	NM_006245.4(PPP2R5D):c.706G>A (p.Asp236Asn)	not provided [RCV001764039]	uncertain significance	6	43007486	43007486	Human		name
150548052	CV1304987	single nucleotide variant	NM_006245.4(PPP2R5D):c.406C>T (p.Leu136Phe)	not provided [RCV001764109]	uncertain significance	6	43006994	43006994	Human		name
150555934	CV1305439	single nucleotide variant	NM_006245.4(PPP2R5D):c.313G>T (p.Ala105Ser)	not provided [RCV001773372]	uncertain significance	6	43006670	43006670	Human		name
151349688	CV1324449	single nucleotide variant	NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys)	Hogue-Janssens syndrome 1 [RCV001808894]\|not provided [RCV003698871]	pathogenic\|likely pathogenic	6	43007294	43007294	Human	1	name
151662259	CV1332986	single nucleotide variant	NM_006245.4(PPP2R5D):c.394G>A (p.Val132Met)	Hogue-Janssens syndrome 1 [RCV001837218]	uncertain significance	6	43006982	43006982	Human	1	name
151891339	CV1356622	single nucleotide variant	NM_006245.4(PPP2R5D):c.470C>T (p.Thr157Ile)	not provided [RCV001943336]	uncertain significance	6	43007058	43007058	Human		name
151851186	CV1361976	single nucleotide variant	NM_006245.4(PPP2R5D):c.560C>T (p.Ser187Leu)	not provided [RCV001978961]	uncertain significance	6	43007233	43007233	Human		name
151711428	CV1373697	single nucleotide variant	NM_006245.4(PPP2R5D):c.462G>T (p.Glu154Asp)	not provided [RCV001889465]	uncertain significance	6	43007050	43007050	Human		name
151821607	CV1378597	single nucleotide variant	NM_006245.4(PPP2R5D):c.487G>A (p.Val163Ile)	Inborn genetic diseases [RCV002545303]\|not provided [RCV002029945]	uncertain significance	6	43007075	43007075	Human	1	name
151884964	CV1425182	single nucleotide variant	NM_006245.4(PPP2R5D):c.621G>T (p.Trp207Cys)	not provided [RCV001887257]	pathogenic\|uncertain significance	6	43007294	43007294	Human		name
151726938	CV1433629	single nucleotide variant	NM_006245.4(PPP2R5D):c.341G>A (p.Arg114Gln)	not provided [RCV001983799]	uncertain significance	6	43006929	43006929	Human		name
151800995	CV1442226	single nucleotide variant	NM_006245.4(PPP2R5D):c.442G>A (p.Gly148Arg)	not provided [RCV002011569]	uncertain significance	6	43007030	43007030	Human		name
151890344	CV1448104	single nucleotide variant	NM_006245.4(PPP2R5D):c.892G>A (p.Ala298Thr)	not provided [RCV001943013]	uncertain significance	6	43008235	43008235	Human		name
151836756	CV1469284	single nucleotide variant	NM_006245.4(PPP2R5D):c.800G>A (p.Gly267Asp)	not provided [RCV002051295]	uncertain significance	6	43008008	43008008	Human		name
151825061	CV1478411	single nucleotide variant	NM_006245.4(PPP2R5D):c.703A>G (p.Ile235Val)	not provided [RCV002030263]	uncertain significance	6	43007483	43007483	Human		name
151720872	CV1494583	single nucleotide variant	NM_006245.4(PPP2R5D):c.926A>G (p.Asn309Ser)	not provided [RCV001965955]	uncertain significance	6	43008375	43008375	Human		name
151891274	CV1496279	single nucleotide variant	NM_006245.4(PPP2R5D):c.670C>T (p.Pro224Ser)	Inborn genetic diseases [RCV005262572]\|not provided [RCV001888662]	uncertain significance	6	43007450	43007450	Human	1	name
151864384	CV1498738	single nucleotide variant	NM_006245.4(PPP2R5D):c.781A>G (p.Ile261Val)	not provided [RCV001980537]	benign\|uncertain significance	6	43007989	43007989	Human		name
151789270	CV1515207	single nucleotide variant	NM_006245.4(PPP2R5D):c.790C>T (p.Arg264Cys)	not provided [RCV002027060]	uncertain significance	6	43007998	43007998	Human		name
152982498	CV1677430	single nucleotide variant	NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)	Hogue-Janssens syndrome 1 [RCV002249139]\|not provided [RCV003094013]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	43007959	43007959	Human	1	name
152983278	CV1678103	single nucleotide variant	NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met)	Hogue-Janssens syndrome 1 [RCV002250259]	pathogenic	6	43007022	43007022	Human	1	name
152983280	CV1678105	single nucleotide variant	NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser)	Hogue-Janssens syndrome 1 [RCV002250261]\|not provided [RCV005095828]	pathogenic\|uncertain significance	6	43007293	43007293	Human	1	name
152981889	CV1678845	single nucleotide variant	NM_006245.4(PPP2R5D):c.805T>C (p.Phe269Leu)	not provided [RCV002248235]	uncertain significance	6	43008013	43008013	Human		name
153302068	CV1689436	single nucleotide variant	NM_006245.4(PPP2R5D):c.764G>A (p.Arg255Gln)	not provided [RCV002267386]	uncertain significance	6	43007972	43007972	Human		name
153346419	CV1691703	single nucleotide variant	NM_006245.4(PPP2R5D):c.437G>C (p.Arg146Pro)	Hogue-Janssens syndrome 1 [RCV002273186]	likely benign	6	43007025	43007025	Human	1	name
155694117	CV1771892	single nucleotide variant	NM_006245.4(PPP2R5D):c.629T>C (p.Leu210Pro)	not provided [RCV002299482]	uncertain significance	6	43007302	43007302	Human		name
155701168	CV1776159	single nucleotide variant	NM_006245.4(PPP2R5D):c.725C>A (p.Ala242Asp)	PPP2R5D-related disorder [RCV004729153]\|not provided [RCV002299980]	uncertain significance	6	43007505	43007505	Human	1	name , trait , alternate_id
155701319	CV1776166	single nucleotide variant	NM_006245.4(PPP2R5D):c.648C>G (p.Phe216Leu)	not provided [RCV002299987]	uncertain significance	6	43007428	43007428	Human		name
155750141	CV1779610	single nucleotide variant	NM_006245.4(PPP2R5D):c.487G>C (p.Val163Leu)	not provided [RCV002305394]	uncertain significance	6	43007075	43007075	Human		name
156330066	CV1877373	single nucleotide variant	NM_006245.4(PPP2R5D):c.479G>A (p.Arg160His)	Inborn genetic diseases [RCV003068949]\|PPP2R5D-related disorder [RCV004738664]\|not provided [RCV003063641]	likely benign\|uncertain significance	6	43007067	43007067	Human	2	name , trait , alternate_id
10044312	CV188114	single nucleotide variant	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	Global developmental delay [RCV001255395]\|Hogue-Janssens syndrome 1 [RCV000170482]\|Inborn genetic diseases [RCV000623917]\|Intellectual disability [RCV001261364]\|Neurodevelopmental delay [RCV002273972]\|See cases [RCV001420208]\|not provided [RCV000202079]	pathogenic\|likely pathogenic	6	43007265	43007265	Human	9	name
10044313	CV188115	single nucleotide variant	NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg)	Hogue-Janssens syndrome 1 [RCV000170483]\|not provided [RCV000521503]	pathogenic	6	43007275	43007275	Human	1	name
156393836	CV2019348	single nucleotide variant	NM_006245.4(PPP2R5D):c.754C>G (p.Pro252Ala)	not provided [RCV002725328]	uncertain significance	6	43007962	43007962	Human		name
156089913	CV2056935	single nucleotide variant	NM_006245.4(PPP2R5D):c.976G>A (p.Val326Ile)	not provided [RCV002824144]	uncertain significance	6	43008425	43008425	Human		name
156085411	CV2060484	single nucleotide variant	NM_006245.4(PPP2R5D):c.682C>T (p.Pro228Ser)	not provided [RCV002823993]	uncertain significance	6	43007462	43007462	Human		name
156364586	CV2130511	single nucleotide variant	NM_006245.4(PPP2R5D):c.776A>G (p.Lys259Arg)	not provided [RCV002967207]	uncertain significance	6	43007984	43007984	Human		name
10448294	CV214097	single nucleotide variant	NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)	Hogue-Janssens syndrome 1 [RCV000201454]\|Inborn genetic diseases [RCV001265718]\|PPP2R5D-related disorder [RCV004737321]\|not provided [RCV000202069]	pathogenic\|likely pathogenic	6	43007271	43007271	Human	2	name , trait , alternate_id
10448304	CV214098	single nucleotide variant	NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg)	Hogue-Janssens syndrome 1 [RCV000201477]\|not provided [RCV004760433]	pathogenic	6	43007292	43007292	Human	1	name
10448644	CV214562	single nucleotide variant	NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)	Hogue-Janssens syndrome 1 [RCV001250808]\|PPP2R5D-related disorder [RCV004553103]\|not provided [RCV000202284]	pathogenic\|likely pathogenic	6	43007262	43007262	Human	1	name , trait , alternate_id
156227923	CV2212898	single nucleotide variant	NM_006245.4(PPP2R5D):c.688A>C (p.Ile230Leu)	Inborn genetic diseases [RCV002712561]\|not provided [RCV005099567]	uncertain significance	6	43007468	43007468	Human	1	name
156259625	CV2216243	single nucleotide variant	NM_006245.4(PPP2R5D):c.691G>A (p.Ala231Thr)	Inborn genetic diseases [RCV002702944]\|not provided [RCV005059229]	uncertain significance	6	43007471	43007471	Human	1	name
329359179	CV2450907	single nucleotide variant	NM_006245.4(PPP2R5D):c.443G>T (p.Gly148Val)	Inborn genetic diseases [RCV003204377]	uncertain significance	6	43007031	43007031	Human	1	name
329846708	CV2534170	single nucleotide variant	NM_006245.4(PPP2R5D):c.853T>C (p.Tyr285His)	not provided [RCV003228377]	uncertain significance	6	43008061	43008061	Human		name
11579579	CV264294	single nucleotide variant	NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)	Hogue-Janssens syndrome 1 [RCV001265481]\|not provided [RCV000307513]	pathogenic\|likely pathogenic	6	43007292	43007292	Human	1	name
329954680	CV2670613	single nucleotide variant	NM_006245.4(PPP2R5D):c.963G>A (p.Met321Ile)	not provided [RCV003235881]	uncertain significance	6	43008412	43008412	Human		name
401828151	CV2744521	single nucleotide variant	NM_006245.4(PPP2R5D):c.872C>T (p.Thr291Met)	Hogue-Janssens syndrome 1 [RCV004557267]\|Inborn genetic diseases [RCV004334094]\|not provided [RCV003327918]	uncertain significance	6	43008215	43008215	Human	2	name
401828289	CV2744649	single nucleotide variant	NM_006245.4(PPP2R5D):c.491C>G (p.Thr164Ser)	not provided [RCV003328048]	uncertain significance	6	43007079	43007079	Human		name
401875458	CV2749945	single nucleotide variant	NM_006245.4(PPP2R5D):c.478C>T (p.Arg160Cys)	Hogue-Janssens syndrome 1 [RCV003333353]\|not provided [RCV003777410]	uncertain significance	6	43007066	43007066	Human	1	name
401859988	CV2794394	single nucleotide variant	NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)	Hogue-Janssens syndrome 1 [RCV003387562]	likely pathogenic	6	43007429	43007429	Human	1	name
401913519	CV2830431	single nucleotide variant	NM_006245.4(PPP2R5D):c.625C>T (p.His209Tyr)	not provided [RCV003441646]	likely pathogenic	6	43007298	43007298	Human		name
405047422	CV2856328	single nucleotide variant	NM_006245.4(PPP2R5D):c.472C>G (p.His158Asp)	not provided [RCV003579551]	uncertain significance	6	43007060	43007060	Human		name
405041374	CV2862748	single nucleotide variant	NM_006245.4(PPP2R5D):c.649T>G (p.Phe217Val)	not provided [RCV003579137]	uncertain significance	6	43007429	43007429	Human		name
405175083	CV2863531	single nucleotide variant	NM_006245.4(PPP2R5D):c.574G>A (p.Ala192Thr)	not provided [RCV003542662]	uncertain significance	6	43007247	43007247	Human		name
405200859	CV2873388	single nucleotide variant	NM_006245.4(PPP2R5D):c.416T>C (p.Leu139Pro)	not provided [RCV003551371]	uncertain significance	6	43007004	43007004	Human		name
405206171	CV2913416	single nucleotide variant	NM_006245.4(PPP2R5D):c.437G>A (p.Arg146Gln)	not provided [RCV003566531]	uncertain significance	6	43007025	43007025	Human		name
405065010	CV2927441	single nucleotide variant	NM_006245.4(PPP2R5D):c.382C>T (p.Leu128Phe)	not provided [RCV003580753]	uncertain significance	6	43006970	43006970	Human		name
402504733	CV2927595	single nucleotide variant	NM_006245.4(PPP2R5D):c.837G>T (p.Gln279His)	not provided [RCV003574346]	uncertain significance	6	43008045	43008045	Human		name
402469643	CV2931061	single nucleotide variant	NM_006245.4(PPP2R5D):c.415C>T (p.Leu139Phe)	not provided [RCV003570157]	uncertain significance	6	43007003	43007003	Human		name
405084147	CV2946446	single nucleotide variant	NM_006245.4(PPP2R5D):c.326C>T (p.Ser109Leu)	Inborn genetic diseases [RCV004661704]\|not provided [RCV003664831]	uncertain significance	6	43006914	43006914	Human	1	name
402487965	CV2987634	single nucleotide variant	NM_006245.4(PPP2R5D):c.998T>G (p.Val333Gly)	not provided [RCV003713492]	uncertain significance	6	43008447	43008447	Human		name
402516368	CV2992094	deletion	NM_006245.4(PPP2R5D):c.1669del (p.Gln557fs)	not provided [RCV003689905]	uncertain significance	6	43010995	43010995	Human		name
404978537	CV3013092	single nucleotide variant	NM_006245.4(PPP2R5D):c.818G>A (p.Arg273Gln)	not provided [RCV003690830]	uncertain significance	6	43008026	43008026	Human		name
402522707	CV3014863	single nucleotide variant	NM_006245.4(PPP2R5D):c.833G>T (p.Arg278Met)	not provided [RCV003690422]	uncertain significance	6	43008041	43008041	Human		name
405209879	CV3062156	single nucleotide variant	NM_006245.4(PPP2R5D):c.540C>G (p.Phe180Leu)	not provided [RCV003731846]	uncertain significance	6	43007213	43007213	Human		name
405029744	CV3073593	single nucleotide variant	NM_006245.4(PPP2R5D):c.395T>C (p.Val132Ala)	not provided [RCV003739001]	uncertain significance	6	43006983	43006983	Human		name
405268346	CV3187018	single nucleotide variant	NM_006245.4(PPP2R5D):c.584A>C (p.Asp195Ala)	not provided [RCV003887101]	uncertain significance	6	43007257	43007257	Human		name
405653146	CV3377078	single nucleotide variant	NM_006245.4(PPP2R5D):c.496G>A (p.Ala166Thr)	Inborn genetic diseases [RCV004510113]	uncertain significance	6	43007084	43007084	Human	1	name
405855093	CV3395690	single nucleotide variant	NM_006245.4(PPP2R5D):c.391T>G (p.Phe131Val)	Hogue-Janssens syndrome 1 [RCV004555953]	likely pathogenic	6	43006979	43006979	Human	1	name
405852652	CV3396321	deletion	NM_006245.4(PPP2R5D):c.1387del (p.His463fs)	Hogue-Janssens syndrome 1 [RCV004557285]	uncertain significance	6	43010474	43010474	Human	1	name
405852655	CV3396324	single nucleotide variant	NM_006245.4(PPP2R5D):c.608T>C (p.Leu203Pro)	Hogue-Janssens syndrome 1 [RCV004557288]	likely pathogenic	6	43007281	43007281	Human	1	name
407427494	CV3411916	single nucleotide variant	NM_006245.4(PPP2R5D):c.858G>T (p.Arg286Ser)	not provided [RCV004592087]	uncertain significance	6	43008201	43008201	Human		name
407427688	CV3411996	single nucleotide variant	NM_006245.4(PPP2R5D):c.400G>C (p.Asp134His)	not provided [RCV004592167]	uncertain significance	6	43006988	43006988	Human		name
407506542	CV3496155	single nucleotide variant	NM_006245.4(PPP2R5D):c.598G>C (p.Glu200Gln)	not provided [RCV004697995]	uncertain significance	6	43007271	43007271	Human		name
408382555	CV3503443	single nucleotide variant	NM_006245.4(PPP2R5D):c.616G>C (p.Ala206Pro)	PPP2R5D-related disorder [RCV004729981]	uncertain significance	6	43007289	43007289	Human		name , trait , alternate_id
408390171	CV3524960	single nucleotide variant	NM_006245.4(PPP2R5D):c.943C>G (p.Leu315Val)	not provided [RCV004769855]	uncertain significance	6	43008392	43008392	Human		name
408381653	CV3526558	single nucleotide variant	NM_006245.4(PPP2R5D):c.595G>T (p.Asp199Tyr)	not provided [RCV004771871]	uncertain significance	6	43007268	43007268	Human		name
408387686	CV3527149	single nucleotide variant	NM_006245.4(PPP2R5D):c.919A>G (p.Ile307Val)	not provided [RCV004773451]	uncertain significance	6	43008368	43008368	Human		name
596922935	CV3530173	deletion	NM_006245.4(PPP2R5D):c.22_24del (p.Glu8del)	not provided [RCV004776772]	uncertain significance	6	42984697	42984699	Human		name
596943119	CV3542766	deletion	NM_006245.4(PPP2R5D):c.1735del (p.Val579fs)	not provided [RCV004798350]	uncertain significance	6	43011212	43011212	Human		name
596945895	CV3548091	single nucleotide variant	NM_006245.4(PPP2R5D):c.472C>T (p.His158Tyr)	not provided [RCV004809422]	uncertain significance	6	43007060	43007060	Human		name
597694324	CV3587961	single nucleotide variant	NM_006245.4(PPP2R5D):c.331A>G (p.Thr111Ala)	Inborn genetic diseases [RCV004954601]	uncertain significance	6	43006919	43006919	Human	1	name
597971170	CV3750644	single nucleotide variant	NM_006245.4(PPP2R5D):c.400G>T (p.Asp134Tyr)	not provided [RCV005084388]	uncertain significance	6	43006988	43006988	Human		name
597921279	CV3807987	single nucleotide variant	NM_006245.4(PPP2R5D):c.409A>G (p.Ser137Gly)	not provided [RCV005155695]	uncertain significance	6	43006997	43006997	Human		name
597831671	CV3863901	single nucleotide variant	NM_006245.4(PPP2R5D):c.545C>T (p.Thr182Met)	Hogue-Janssens syndrome 1 [RCV005208315]	uncertain significance	6	43007218	43007218	Human	1	name
12894149	CV406872	single nucleotide variant	NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)	Hogue-Janssens syndrome 1 [RCV001169914]\|not provided [RCV000481705]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	6	43007960	43007960	Human	1	name
12913458	CV421592	single nucleotide variant	NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)	Hogue-Janssens syndrome 1 [RCV000626280]\|not provided [RCV001696916]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	6	43007966	43007966	Human	1	name
13532741	CV511680	single nucleotide variant	NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala)	Hogue-Janssens syndrome 1 [RCV001249666]\|Inborn genetic diseases [RCV000624493]\|Seizure [RCV005241245]\|not provided [RCV002225692]	pathogenic\|likely pathogenic\|uncertain significance	6	43007960	43007960	Human	4	name
21071487	CV790632	single nucleotide variant	NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu)	Hogue-Janssens syndrome 1 [RCV000987704]\|not provided [RCV002550604]	likely benign\|uncertain significance	6	43008001	43008001	Human	1	name
38488966	CV945044	single nucleotide variant	NM_006245.4(PPP2R5D):c.937C>G (p.Leu313Val)	Inborn genetic diseases [RCV001266892]\|not provided [RCV001238222]	uncertain significance	6	43008386	43008386	Human	1	name
40814213	CV966953	single nucleotide variant	NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)	Hogue-Janssens syndrome 1 [RCV001726472]\|Intellectual disability [RCV001257701]\|not provided [RCV001545039]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	6	43007956	43007956	Human	3	name
40815853	CV970496	single nucleotide variant	NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	Hogue-Janssens syndrome 1 [RCV001261947]\|not provided [RCV003679050]	pathogenic\|likely pathogenic\|uncertain significance	6	43007305	43007305	Human	1	name
40887748	CV972940	single nucleotide variant	NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly)	Hogue-Janssens syndrome 1 [RCV001265484]	likely pathogenic	6	43007263	43007263	Human	1	name
40887750	CV972942	single nucleotide variant	NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His)	Hogue-Janssens syndrome 1 [RCV001265485]\|not provided [RCV002537678]	pathogenic\|likely pathogenic\|uncertain significance	6	43007959	43007959	Human	1	name
40887576	CV972943	single nucleotide variant	NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)	Hogue-Janssens syndrome 1 [RCV001265316]\|Neurodevelopmental abnormality [RCV005236747]\|not provided [RCV001552427]	pathogenic\|likely pathogenic	6	43007966	43007966	Human	3	name
40887749	CV973547	single nucleotide variant	NM_006245.4(PPP2R5D):c.602C>T (p.Pro201Leu)	Inborn genetic diseases [RCV001267344]	uncertain significance	6	43007275	43007275	Human	1	name
40886955	CV973548	single nucleotide variant	NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)	Hogue-Janssens syndrome 1 [RCV002226760]\|Inborn genetic diseases [RCV001266286]\|Neurodevelopmental disorder [RCV001779146]\|not provided [RCV001550149]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	6	43007959	43007959	Human	3	name
40886693	CV973549	single nucleotide variant	NM_006245.4(PPP2R5D):c.788A>G (p.His263Arg)	Inborn genetic diseases [RCV001265903]\|not provided [RCV003718393]	uncertain significance	6	43007996	43007996	Human	1	name
126740877	CV1016754	single nucleotide variant	NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)	Hogue-Janssens syndrome 1 [RCV001329550]\|Neurodevelopmental delay [RCV002508957]	uncertain significance\|not provided	6	43011239	43011239	Human	2	name
126913660	CV1037716	single nucleotide variant	NM_006245.4(PPP2R5D):c.1568G>A (p.Arg523Gln)	not provided [RCV001357580]	uncertain significance	6	43010894	43010894	Human		name
150332183	CV1163738	single nucleotide variant	NM_006245.4(PPP2R5D):c.1418T>G (p.Phe473Cys)	Hogue-Janssens syndrome 1 [RCV001528121]	uncertain significance	6	43010506	43010506	Human	1	name
150514763	CV1228623	single nucleotide variant	NM_006245.4(PPP2R5D):c.1588C>T (p.Pro530Ser)	Inborn genetic diseases [RCV002539572]\|not provided [RCV001638611]	benign\|likely benign\|conflicting interpretations of pathogenicity	6	43010914	43010914	Human	1	name
150508098	CV1244736	single nucleotide variant	NM_006245.4(PPP2R5D):c.1573C>T (p.Pro525Ser)	not provided [RCV001658985]	likely benign\|conflicting interpretations of pathogenicity	6	43010899	43010899	Human		name
150554328	CV1295750	single nucleotide variant	NM_006245.4(PPP2R5D):c.1570G>A (p.Ala524Thr)	not provided [RCV001770980]	uncertain significance	6	43010896	43010896	Human		name
150556239	CV1296792	single nucleotide variant	NM_006245.4(PPP2R5D):c.1471G>C (p.Glu491Gln)	not provided [RCV001774082]	uncertain significance	6	43010559	43010559	Human		name
150554642	CV1304358	single nucleotide variant	NM_006245.4(PPP2R5D):c.1540C>T (p.Arg514Trp)	not provided [RCV001771328]	uncertain significance	6	43010722	43010722	Human		name
150545621	CV1315799	single nucleotide variant	NM_006245.4(PPP2R5D):c.1609G>A (p.Glu537Lys)	Hogue-Janssens syndrome 1 [RCV001784130]\|not provided [RCV003772166]	uncertain significance	6	43010935	43010935	Human	1	name
151234619	CV1320373	single nucleotide variant	NM_006245.4(PPP2R5D):c.1367G>T (p.Ser456Ile)	not provided [RCV001799997]	uncertain significance	6	43009437	43009437	Human		name
151355540	CV1328607	single nucleotide variant	NM_006245.4(PPP2R5D):c.1079C>T (p.Pro360Leu)	not specified [RCV001820612]	likely benign	6	43008745	43008745	Human		name
151881634	CV1339770	single nucleotide variant	NM_006245.4(PPP2R5D):c.1322G>A (p.Arg441Gln)	not provided [RCV001999670]	conflicting interpretations of pathogenicity\|uncertain significance	6	43009392	43009392	Human		name
151858094	CV1347574	single nucleotide variant	NM_006245.4(PPP2R5D):c.1486C>T (p.Arg496Trp)	Inborn genetic diseases [RCV003365669]\|not provided [RCV002034029]	uncertain significance	6	43010668	43010668	Human	1	name
151739935	CV1352392	single nucleotide variant	NM_006245.4(PPP2R5D):c.1563G>T (p.Met521Ile)	Inborn genetic diseases [RCV003164200]\|not provided [RCV001870920]	uncertain significance	6	43010889	43010889	Human	1	name
151813222	CV1366205	single nucleotide variant	NM_006245.4(PPP2R5D):c.1600A>G (p.Met534Val)	not provided [RCV001933412]	uncertain significance	6	43010926	43010926	Human		name
151860266	CV1389815	single nucleotide variant	NM_006245.4(PPP2R5D):c.1303A>G (p.Ile435Val)	Hogue-Janssens syndrome 1 [RCV002275257]\|not provided [RCV001905185]	uncertain significance	6	43009373	43009373	Human	1	name
151737448	CV1389824	single nucleotide variant	NM_006245.4(PPP2R5D):c.1096C>T (p.Leu366Phe)	not provided [RCV001892924]	uncertain significance	6	43009072	43009072	Human		name
151857423	CV1402026	single nucleotide variant	NM_006245.4(PPP2R5D):c.1573C>G (p.Pro525Ala)	not provided [RCV002017349]	uncertain significance	6	43010899	43010899	Human		name
151889056	CV1402533	single nucleotide variant	NM_006245.4(PPP2R5D):c.1369C>T (p.His457Tyr)	not provided [RCV001942717]	uncertain significance	6	43009439	43009439	Human		name
151743559	CV1404499	single nucleotide variant	NM_006245.4(PPP2R5D):c.1615C>T (p.Pro539Ser)	not provided [RCV002022567]	uncertain significance	6	43010941	43010941	Human		name
151871367	CV1413738	single nucleotide variant	NM_006245.4(PPP2R5D):c.1496T>C (p.Met499Thr)	not provided [RCV001998384]	uncertain significance	6	43010678	43010678	Human		name
151804269	CV1429693	single nucleotide variant	NM_006245.4(PPP2R5D):c.1213C>T (p.Arg405Cys)	not provided [RCV001974192]	uncertain significance	6	43009189	43009189	Human		name
151822137	CV1452509	single nucleotide variant	NM_006245.4(PPP2R5D):c.1493G>A (p.Arg498Gln)	not provided [RCV002049903]	uncertain significance	6	43010675	43010675	Human		name
151880516	CV1475443	single nucleotide variant	NM_006245.4(PPP2R5D):c.1541G>A (p.Arg514Gln)	not provided [RCV001961598]	uncertain significance	6	43010723	43010723	Human		name
151742484	CV1479495	single nucleotide variant	NM_006245.4(PPP2R5D):c.1500G>C (p.Lys500Asn)	not provided [RCV001912061]	uncertain significance	6	43010682	43010682	Human		name
151860216	CV1482915	single nucleotide variant	NM_006245.4(PPP2R5D):c.1700T>C (p.Val567Ala)	not provided [RCV001883824]	uncertain significance	6	43011177	43011177	Human		name
151722809	CV1498200	single nucleotide variant	NM_006245.4(PPP2R5D):c.1799A>G (p.Glu600Gly)	not provided [RCV001983318]	uncertain significance	6	43011276	43011276	Human		name
151843938	CV1511022	single nucleotide variant	NM_006245.4(PPP2R5D):c.1709G>A (p.Arg570Gln)	not provided [RCV001957094]	uncertain significance	6	43011186	43011186	Human		name
155705737	CV1771411	single nucleotide variant	NM_006245.4(PPP2R5D):c.1185G>C (p.Glu395Asp)	not provided [RCV002295875]	uncertain significance	6	43009161	43009161	Human		name
155693577	CV1775321	single nucleotide variant	NM_006245.4(PPP2R5D):c.1175A>C (p.Glu392Ala)	not provided [RCV002299451]	uncertain significance	6	43009151	43009151	Human		name
155797046	CV1859219	single nucleotide variant	NM_006245.4(PPP2R5D):c.1133T>C (p.Val378Ala)	not provided [RCV002464847]	uncertain significance	6	43009109	43009109	Human		name
155937079	CV1867462	single nucleotide variant	NM_006245.4(PPP2R5D):c.1768C>T (p.Arg590Trp)	not provided [RCV002509934]	uncertain significance	6	43011245	43011245	Human		name
156405560	CV1919395	single nucleotide variant	NM_006245.4(PPP2R5D):c.1673T>C (p.Met558Thr)	not provided [RCV002585675]	likely benign	6	43011150	43011150	Human		name
155912086	CV1935292	single nucleotide variant	NM_006245.4(PPP2R5D):c.1469C>T (p.Ala490Val)	Hogue-Janssens syndrome 1 [RCV002510621]	uncertain significance	6	43010557	43010557	Human	1	name
156384232	CV1961096	single nucleotide variant	NM_006245.4(PPP2R5D):c.1598C>T (p.Ser533Leu)	not provided [RCV002583374]	conflicting interpretations of pathogenicity\|uncertain significance	6	43010924	43010924	Human		name
156149537	CV1967392	single nucleotide variant	NM_006245.4(PPP2R5D):c.1735G>A (p.Val579Met)	not provided [RCV002594101]	conflicting interpretations of pathogenicity\|uncertain significance	6	43011212	43011212	Human		name
156198060	CV1967896	single nucleotide variant	NM_006245.4(PPP2R5D):c.1214G>A (p.Arg405His)	not provided [RCV002625633]	uncertain significance	6	43009190	43009190	Human		name
156203452	CV1978558	single nucleotide variant	NM_006245.4(PPP2R5D):c.1634A>T (p.Gln545Leu)	Inborn genetic diseases [RCV003167482]\|not provided [RCV002625810]	uncertain significance	6	43010960	43010960	Human	1	name
156135624	CV1995416	single nucleotide variant	NM_006245.4(PPP2R5D):c.1355G>A (p.Arg452Lys)	not provided [RCV002663379]	uncertain significance	6	43009425	43009425	Human		name
156143699	CV2002879	single nucleotide variant	NM_006245.4(PPP2R5D):c.1191C>G (p.Ser397Arg)	not provided [RCV002663661]\|not specified [RCV004587369]	uncertain significance	6	43009167	43009167	Human		name
155976377	CV2032090	single nucleotide variant	NM_006245.4(PPP2R5D):c.1674G>A (p.Met558Ile)	not provided [RCV002755122]	uncertain significance	6	43011151	43011151	Human		name
156213943	CV2037110	single nucleotide variant	NM_006245.4(PPP2R5D):c.1588C>G (p.Pro530Ala)	not provided [RCV002790356]	uncertain significance	6	43010914	43010914	Human		name
156136924	CV2048147	single nucleotide variant	NM_006245.4(PPP2R5D):c.1190G>C (p.Ser397Thr)	not provided [RCV002800816]	uncertain significance	6	43009166	43009166	Human		name
155914140	CV2066065	single nucleotide variant	NM_006245.4(PPP2R5D):c.1259A>G (p.Glu420Gly)	not provided [RCV002837934]	uncertain significance	6	43009329	43009329	Human		name
156310339	CV2111264	single nucleotide variant	NM_006245.4(PPP2R5D):c.1568G>C (p.Arg523Pro)	not provided [RCV002937126]	uncertain significance	6	43010894	43010894	Human		name
155909853	CV2131125	single nucleotide variant	NM_006245.4(PPP2R5D):c.1081G>T (p.Val361Leu)	not provided [RCV002967962]	uncertain significance	6	43009057	43009057	Human		name
156098959	CV2132185	single nucleotide variant	NM_006245.4(PPP2R5D):c.1168G>A (p.Val390Ile)	not provided [RCV003002140]	uncertain significance	6	43009144	43009144	Human		name
155964948	CV2134752	single nucleotide variant	NM_006245.4(PPP2R5D):c.1772C>T (p.Ala591Val)	Inborn genetic diseases [RCV004654071]\|PPP2R5D-related disorder [RCV004550328]\|not provided [RCV002972565]	likely benign\|uncertain significance	6	43011249	43011249	Human	2	name , trait , alternate_id
10448629	CV214565	single nucleotide variant	NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)	Hogue-Janssens syndrome 1 [RCV001250807]\|Inborn genetic diseases [RCV000624654]\|not provided [RCV000202211]	pathogenic\|likely pathogenic	6	43009328	43009328	Human	2	name
156009998	CV2160009	single nucleotide variant	NM_006245.4(PPP2R5D):c.1636C>T (p.Leu546Phe)	not provided [RCV003017690]	benign	6	43010962	43010962	Human		name
156334776	CV2168276	single nucleotide variant	NM_006245.4(PPP2R5D):c.1271A>G (p.Tyr424Cys)	not provided [RCV003029961]	uncertain significance	6	43009341	43009341	Human		name
155972553	CV2271549	single nucleotide variant	NM_006245.4(PPP2R5D):c.1457A>G (p.Gln486Arg)	Inborn genetic diseases [RCV002817838]	uncertain significance	6	43010545	43010545	Human	1	name
156213138	CV2385829	single nucleotide variant	NM_006245.4(PPP2R5D):c.1583T>C (p.Leu528Pro)	Inborn genetic diseases [RCV002744207]\|not provided [RCV003730388]	uncertain significance	6	43010909	43010909	Human	1	name
156434970	CV2403221	single nucleotide variant	NM_006245.4(PPP2R5D):c.1283A>G (p.Asn428Ser)	not provided [RCV003127177]	uncertain significance	6	43009353	43009353	Human		name
243052123	CV2404314	single nucleotide variant	NM_006245.4(PPP2R5D):c.1090G>A (p.Gly364Arg)	not provided [RCV003129340]	uncertain significance	6	43009066	43009066	Human		name
329391930	CV2463785	single nucleotide variant	NM_006245.4(PPP2R5D):c.1753C>G (p.Leu585Val)	Inborn genetic diseases [RCV003217510]	uncertain significance	6	43011230	43011230	Human	1	name
404985909	CV2852381	single nucleotide variant	NM_006245.4(PPP2R5D):c.1718C>T (p.Ser573Leu)	not specified [RCV003489617]	uncertain significance	6	43011195	43011195	Human		name
405168890	CV2854103	single nucleotide variant	NM_006245.4(PPP2R5D):c.1776A>C (p.Glu592Asp)	not provided [RCV003542006]	uncertain significance	6	43011253	43011253	Human		name
405110067	CV2898894	single nucleotide variant	NM_006245.4(PPP2R5D):c.1183G>C (p.Glu395Gln)	not provided [RCV003557750]	uncertain significance	6	43009159	43009159	Human		name
405067655	CV2923935	single nucleotide variant	NM_006245.4(PPP2R5D):c.1327C>T (p.Leu443Phe)	not provided [RCV003580922]	uncertain significance	6	43009397	43009397	Human		name
402486362	CV2931784	single nucleotide variant	NM_006245.4(PPP2R5D):c.1308T>G (p.Ser436Arg)	not provided [RCV003572564]	uncertain significance	6	43009378	43009378	Human		name
405140343	CV2961811	single nucleotide variant	NM_006245.4(PPP2R5D):c.1567C>T (p.Arg523Ter)	not provided [RCV003673091]	uncertain significance	6	43010893	43010893	Human		name
404978479	CV3013073	single nucleotide variant	NM_006245.4(PPP2R5D):c.1006C>G (p.Leu336Val)	not provided [RCV003690819]	uncertain significance	6	43008455	43008455	Human		name
404979024	CV3013267	single nucleotide variant	NM_006245.4(PPP2R5D):c.1321C>T (p.Arg441Ter)	not provided [RCV003690901]	uncertain significance	6	43009391	43009391	Human		name
405163702	CV3018051	single nucleotide variant	NM_006245.4(PPP2R5D):c.1708C>T (p.Arg570Trp)	not provided [RCV003704143]	uncertain significance	6	43011185	43011185	Human		name
405045216	CV3071423	single nucleotide variant	NM_006245.4(PPP2R5D):c.1779G>C (p.Glu593Asp)	not provided [RCV003740206]	uncertain significance	6	43011256	43011256	Human		name
405054987	CV3138526	single nucleotide variant	NM_006245.4(PPP2R5D):c.1774G>C (p.Glu592Gln)	not provided [RCV003832370]	uncertain significance	6	43011251	43011251	Human		name
405178125	CV3146984	single nucleotide variant	NM_006245.4(PPP2R5D):c.1020C>G (p.His340Gln)	not provided [RCV003842080]	uncertain significance	6	43008469	43008469	Human		name
405247299	CV3158654	single nucleotide variant	NM_006245.4(PPP2R5D):c.1235C>G (p.Ser412Cys)	not provided [RCV003868996]	uncertain significance	6	43009211	43009211	Human		name
405182347	CV3159614	single nucleotide variant	NM_006245.4(PPP2R5D):c.1497G>A (p.Met499Ile)	not provided [RCV003858865]	uncertain significance	6	43010679	43010679	Human		name
405226101	CV3169357	single nucleotide variant	NM_006245.4(PPP2R5D):c.1022C>G (p.Pro341Arg)	not provided [RCV003864381]	uncertain significance	6	43008471	43008471	Human		name
405854392	CV3393021	single nucleotide variant	NM_006245.4(PPP2R5D):c.1428G>A (p.Met476Ile)	not specified [RCV004527178]	uncertain significance	6	43010516	43010516	Human		name
405854863	CV3394979	single nucleotide variant	NM_006245.4(PPP2R5D):c.1315G>A (p.Ala439Thr)	not provided [RCV004555120]	uncertain significance	6	43009385	43009385	Human		name
405852654	CV3396323	single nucleotide variant	NM_006245.4(PPP2R5D):c.1607C>G (p.Thr536Arg)	Hogue-Janssens syndrome 1 [RCV004557287]	uncertain significance	6	43010933	43010933	Human	1	name
405852656	CV3396325	single nucleotide variant	NM_006245.4(PPP2R5D):c.1319C>T (p.Ala440Val)	Hogue-Janssens syndrome 1 [RCV004557289]	uncertain significance	6	43009389	43009389	Human	1	name
407427870	CV3412168	single nucleotide variant	NM_006245.4(PPP2R5D):c.1445A>G (p.Asp482Gly)	not provided [RCV004592339]	uncertain significance	6	43010533	43010533	Human		name
408391504	CV3523227	single nucleotide variant	NM_006245.4(PPP2R5D):c.1265C>G (p.Ala422Gly)	not provided [RCV004770599]	uncertain significance	6	43009335	43009335	Human		name
408381243	CV3523805	single nucleotide variant	NM_006245.4(PPP2R5D):c.1442T>G (p.Phe481Cys)	not provided [RCV004766203]	uncertain significance	6	43010530	43010530	Human		name
408387849	CV3527232	single nucleotide variant	NM_006245.4(PPP2R5D):c.1508A>T (p.Glu503Val)	not provided [RCV004773534]	uncertain significance	6	43010690	43010690	Human		name
408392308	CV3528085	single nucleotide variant	NM_006245.4(PPP2R5D):c.1084A>G (p.Ile362Val)	not provided [RCV004775853]	uncertain significance	6	43009060	43009060	Human		name
408392469	CV3528139	single nucleotide variant	NM_006245.4(PPP2R5D):c.1549C>T (p.Pro517Ser)	not provided [RCV004775907]	uncertain significance	6	43010731	43010731	Human		name
408392745	CV3528267	single nucleotide variant	NM_006245.4(PPP2R5D):c.1505G>A (p.Arg502Lys)	not provided [RCV004776035]	uncertain significance	6	43010687	43010687	Human		name
596929692	CV3531105	single nucleotide variant	NM_006245.4(PPP2R5D):c.1642A>C (p.Lys548Gln)	not provided [RCV004779679]	uncertain significance	6	43010968	43010968	Human		name
596928652	CV3540496	single nucleotide variant	NM_006245.4(PPP2R5D):c.1451G>A (p.Cys484Tyr)	not provided [RCV004794823]	uncertain significance	6	43010539	43010539	Human		name
596944833	CV3543516	single nucleotide variant	NM_006245.4(PPP2R5D):c.1428G>C (p.Met476Ile)	not provided [RCV004801638]	uncertain significance	6	43010516	43010516	Human		name
597694329	CV3587962	single nucleotide variant	NM_006245.4(PPP2R5D):c.1487G>A (p.Arg496Gln)	Inborn genetic diseases [RCV004954602]	uncertain significance	6	43010669	43010669	Human	1	name
597862281	CV3745185	single nucleotide variant	NM_006245.4(PPP2R5D):c.1325T>C (p.Val442Ala)	not provided [RCV005067541]	uncertain significance	6	43009395	43009395	Human		name
597850272	CV3746871	single nucleotide variant	NM_006245.4(PPP2R5D):c.1159A>G (p.Ile387Val)	not provided [RCV005060498]	uncertain significance	6	43009135	43009135	Human		name
597964089	CV3754272	single nucleotide variant	NM_006245.4(PPP2R5D):c.1694A>G (p.Glu565Gly)	not provided [RCV005082379]	uncertain significance	6	43011171	43011171	Human		name
597923187	CV3775829	single nucleotide variant	NM_006245.4(PPP2R5D):c.1696A>G (p.Lys566Glu)	not provided [RCV005115544]	uncertain significance	6	43011173	43011173	Human		name
597925001	CV3778126	single nucleotide variant	NM_006245.4(PPP2R5D):c.1498A>G (p.Lys500Glu)	not provided [RCV005130850]	uncertain significance	6	43010680	43010680	Human		name
597907083	CV3781427	single nucleotide variant	NM_006245.4(PPP2R5D):c.1428G>T (p.Met476Ile)	not provided [RCV005128115]	uncertain significance	6	43010516	43010516	Human		name
597890943	CV3784920	single nucleotide variant	NM_006245.4(PPP2R5D):c.1229G>A (p.Cys410Tyr)	not provided [RCV005125699]	uncertain significance	6	43009205	43009205	Human		name
597965468	CV3797177	single nucleotide variant	NM_006245.4(PPP2R5D):c.1225A>G (p.Lys409Glu)	not provided [RCV005140136]	uncertain significance	6	43009201	43009201	Human		name
597949561	CV3801331	single nucleotide variant	NM_006245.4(PPP2R5D):c.1518G>C (p.Trp506Cys)	not provided [RCV005135511]	uncertain significance	6	43010700	43010700	Human		name
597950478	CV3815145	single nucleotide variant	NM_006245.4(PPP2R5D):c.1528G>A (p.Glu510Lys)	not provided [RCV005161095]	uncertain significance	6	43010710	43010710	Human		name
597976099	CV3829100	single nucleotide variant	NM_006245.4(PPP2R5D):c.1064G>C (p.Ser355Thr)	not provided [RCV005169549]	uncertain significance	6	43008730	43008730	Human		name
597896142	CV3834553	single nucleotide variant	NM_006245.4(PPP2R5D):c.1085T>C (p.Ile362Thr)	not provided [RCV005180464]	uncertain significance	6	43009061	43009061	Human		name
597928920	CV3851859	single nucleotide variant	NM_006245.4(PPP2R5D):c.1765A>G (p.Lys589Glu)	not provided [RCV005206327]	uncertain significance	6	43011242	43011242	Human		name
597886192	CV3854910	single nucleotide variant	NM_006245.4(PPP2R5D):c.1078C>A (p.Pro360Thr)	not provided [RCV005199756]	uncertain significance	6	43008744	43008744	Human		name
597895018	CV3857273	single nucleotide variant	NM_006245.4(PPP2R5D):c.1649C>T (p.Thr550Ile)	not provided [RCV005201137]	uncertain significance	6	43010975	43010975	Human		name
598122953	CV3890103	single nucleotide variant	NM_006245.4(PPP2R5D):c.1492C>T (p.Arg498Ter)	not provided [RCV005250622]	uncertain significance	6	43010674	43010674	Human		name
598122959	CV3890109	single nucleotide variant	NM_006245.4(PPP2R5D):c.1722G>C (p.Glu574Asp)	not provided [RCV005250628]	uncertain significance	6	43011199	43011199	Human		name
598170144	CV3907745	single nucleotide variant	NM_006245.4(PPP2R5D):c.1695G>T (p.Glu565Asp)	Inborn genetic diseases [RCV005263010]	uncertain significance	6	43011172	43011172	Human	1	name
617150008	CV4019100	single nucleotide variant	NM_006245.4(PPP2R5D):c.1100A>G (p.Lys367Arg)	not provided [RCV005423508]	uncertain significance	6	43009076	43009076	Human		name
15156733	CV750081	single nucleotide variant	NM_006245.4(PPP2R5D):c.1558C>T (p.Pro520Ser)	Hogue-Janssens syndrome 1 [RCV003130092]\|PPP2R5D-related disorder [RCV004551860]\|not provided [RCV000924726]	benign\|likely benign\|uncertain significance	6	43010884	43010884	Human	1	name , trait , alternate_id
21071488	CV790633	single nucleotide variant	NM_006245.4(PPP2R5D):c.1574C>T (p.Pro525Leu)	Hogue-Janssens syndrome 1 [RCV000987705]	uncertain significance	6	43010900	43010900	Human	1	name
21069299	CV795862	single nucleotide variant	NM_006245.4(PPP2R5D):c.1760C>T (p.Ala587Val)	not provided [RCV000998603]	uncertain significance	6	43011237	43011237	Human		name
40887746	CV972944	single nucleotide variant	NM_006245.4(PPP2R5D):c.1419T>G (p.Phe473Leu)	Hogue-Janssens syndrome 1 [RCV001265483]\|Inborn genetic diseases [RCV002542843]\|not provided [RCV001566869]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	43010507	43010507	Human	2	name
151795655	CV1404441	duplication	NM_006245.4(PPP2R5D):c.114_125dup (p.38PQ[7])	not provided [RCV002011100]	uncertain significance	6	43006463	43006464	Human		name
151853638	CV1485129	microsatellite	NM_006245.4(PPP2R5D):c.244AAG[1] (p.Lys83del)	not provided [RCV002033498]	uncertain significance	6	43006601	43006603	Human		name
402475839	CV2857115	indel	NM_006245.4(PPP2R5D):c.1026+19_1026+20delinsGG	not provided [RCV003543357]	uncertain significance	6	43008494	43008495	Human		name
405090993	CV2859441	microsatellite	NM_006245.4(PPP2R5D):c.648CTT[1] (p.Phe217del)	not provided [RCV003549900]	uncertain significance	6	43007426	43007428	Human		name
597719301	CV3733497	deletion	NM_006245.4(PPP2R5D):c.162_164del (p.Ser55del)	not provided [RCV005052687]	uncertain significance	6	43006517	43006519	Human		name
150413937	CV1190513	microsatellite	NM_006245.4(PPP2R5D):c.117GCCCCA[5] (p.38PQ[6])	Inborn genetic diseases [RCV002569036]\|not provided [RCV001567356]	likely benign\|conflicting interpretations of pathogenicity	6	43006471	43006472	Human		name
150416064	CV1197547	microsatellite	NM_006245.4(PPP2R5D):c.117GCCCCA[3] (p.38PQ[4])	Inborn genetic diseases [RCV004952989]\|not provided [RCV001575671]\|not specified [RCV005408968]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	43006472	43006477	Human		name
151710098	CV1487191	microsatellite	NM_006245.4(PPP2R5D):c.117GCCCCA[6] (p.38PQ[7])	not provided [RCV001889191]	uncertain significance	6	43006471	43006472	Human		name
156081393	CV1959987	microsatellite	NM_006245.4(PPP2R5D):c.117GCCCCA[2] (p.38PQ[3])	not provided [RCV002569922]	uncertain significance	6	43006472	43006483	Human		name
401828240	CV2744598	microsatellite	NM_006245.4(PPP2R5D):c.117GCCCCA[1] (p.38PQ[2])	not provided [RCV003327996]	uncertain significance	6	43006472	43006489	Human		name
405248996	CV3003892	microsatellite	NM_006245.4(PPP2R5D):c.1741_1742dup (p.Ile582fs)	not provided [RCV003721246]	uncertain significance	6	43011215	43011216	Human		name
408385703	CV3528639	deletion	NM_006245.4(PPP2R5D):c.1589_1590del (p.Pro530fs)	not provided [RCV004772472]	uncertain significance	6	43010915	43010916	Human		name
155645286	CV1710733	indel	NM_006245.4(PPP2R5D):c.443_444delinsTT (p.Gly148Val)	Hogue-Janssens syndrome 1 [RCV002294549]	uncertain significance	6	43007031	43007032	Human		name
127286198	CV1161807	deletion	NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del)	Encephalopathy [RCV001526611]	likely pathogenic	6	43007262	43007270	Human	2	name
408394373	CV3518150	deletion	NM_006245.4(PPP2R5D):c.570_605del (p.Gly191_Thr202del)	Hogue-Janssens syndrome 1 [RCV004759472]	likely pathogenic	6	43007238	43007273	Human	1	name
405173674	CV2853505	microsatellite	NM_006245.4(PPP2R5D):c.1806_1807del (p.Ter603ThrextTer?)	not provided [RCV003542549]	uncertain significance	6	43011279	43011280	Human		name
153000113	CV1682871	duplication	NM_006245.4(PPP2R5D):c.1640_1642dup (p.Leu547_Lys548insMet)	See cases [RCV002252881]\|not provided [RCV005095851]	uncertain significance	6	43010965	43010966	Human		name
150479545	CV1207854	deletion	NM_006245.4(PPP2R5D):c.612_614del (p.Glu204_Ala205delinsAsp)	not provided [RCV001590130]	likely pathogenic	6	43007285	43007287	Human		name
405093001	CV2878085	insertion	NM_006245.4(PPP2R5D):c.1549_1550insAAA (p.Pro517delinsGlnThr)	not provided [RCV003549939]	uncertain significance	6	43010731	43010732	Human		name
156025888	CV2037263	duplication	NM_006245.4(PPP2R5D):c.114_131dup (p.Gln47_Ala48insProGlnProGlnProGln)	not provided [RCV002795808]	uncertain significance	6	43006463	43006464	Human		name
40887744	CV972941	indel	NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis)	Hogue-Janssens syndrome 1 [RCV001265482]	likely pathogenic	6	43007272	43007275	Human		name
597831797	CV3863935	indel	NM_006245.4(PPP2R5D):c.617_622delinsTTTGTT (p.Ala206_Pro208delinsValCysSer)	Hogue-Janssens syndrome 1 [RCV005208349]	uncertain significance	6	43007290	43007295	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message