Pik3ca Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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More than 1000 records found for search term Pik3ca (Displaying 1000)
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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13820683	CV576074	single nucleotide variant	PIK3CA, ARG115PRO	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth [RCV000709696]\|MACRODACTYLY, SOMATIC [RCV000709695]	pathogenic				Human		name
150417750	CV1179662	deletion	NM_006218.4(PIK3CA):c.*10del	not provided [RCV001550280]	likely benign	3	179234374	179234374	Human		name
11525575	CV245214	single nucleotide variant	NM_006218.4(PIK3CA):c.*29T>C	Cowden syndrome [RCV000235680]\|PIK3CA-related disorder [RCV004535201]\|not provided [RCV000998164]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	179234393	179234393	Human	1	name , alternate_id
405295337	CV3211267	single nucleotide variant	NM_006218.4(PIK3CA):c.*27A>G	PIK3CA-related disorder [RCV004532219]	likely benign	3	179234391	179234391	Human		name , trait , alternate_id
21071264	CV790361	single nucleotide variant	NM_006218.4(PIK3CA):c.-138C>T	Cowden syndrome 1 [RCV000987355]	likely benign	3	179148542	179148542	Human	1	name
127284080	CV1070554	single nucleotide variant	NM_006218.4(PIK3CA):c.814-4A>G	Cowden syndrome [RCV001412224]	likely benign	3	179203540	179203540	Human	1	name
152109582	CV1550977	single nucleotide variant	NM_006218.4(PIK3CA):c.352+9C>T	Cowden syndrome [RCV002152862]	likely benign	3	179199186	179199186	Human	1	name
405119420	CV3038073	single nucleotide variant	NM_006218.4(PIK3CA):c.352+6A>G	Cowden syndrome [RCV003752787]	uncertain significance	3	179199183	179199183	Human	1	name
405707422	CV3225379	single nucleotide variant	NM_006218.4(PIK3CA):c.813+2T>C	CLOVES syndrome [RCV003990433]	likely pathogenic	3	179201542	179201542	Human	1	name
13613528	CV518958	duplication	NM_006218.4(PIK3CA):c.353-2dup	Cowden syndrome [RCV000631232]	likely benign	3	179199685	179199686	Human	1	name
13809644	CV559383	single nucleotide variant	NM_006218.4(PIK3CA):c.563-3T>C	Cowden syndrome [RCV000687863]	uncertain significance	3	179201287	179201287	Human	1	name
13820114	CV575693	single nucleotide variant	NM_006218.4(PIK3CA):c.813+4A>G	Hereditary cancer-predisposing syndrome [RCV000708940]	uncertain significance	3	179201544	179201544	Human	1	name
15137402	CV695184	single nucleotide variant	NM_006218.4(PIK3CA):c.814-9C>T	Cowden syndrome [RCV001473220]	likely benign	3	179203535	179203535	Human	1	name
127274203	CV1092247	single nucleotide variant	NM_006218.4(PIK3CA):c.352+10A>C	Cowden syndrome [RCV001442831]	likely benign	3	179199187	179199187	Human	1	name
127284256	CV1092250	single nucleotide variant	NM_006218.4(PIK3CA):c.2188-7T>A	Cowden syndrome [RCV001449166]	likely benign	3	179224074	179224074	Human	1	name
127297729	CV1113783	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+9G>A	Cowden syndrome [RCV001477691]	likely benign	3	179204597	179204597	Human	1	name
127332624	CV1113786	single nucleotide variant	NM_006218.4(PIK3CA):c.1747-8A>G	Cowden syndrome [RCV001472335]	likely benign	3	179219563	179219563	Human	1	name
127289544	CV1113788	single nucleotide variant	NM_006218.4(PIK3CA):c.1911+8A>G	Cowden syndrome [RCV001450936]	likely benign	3	179219743	179219743	Human	1	name
127301963	CV1134672	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+9G>T	Cowden syndrome [RCV001478832]	likely benign	3	179204597	179204597	Human	1	name
150332392	CV1171071	single nucleotide variant	NM_006218.4(PIK3CA):c.-76-19T>C	not provided [RCV001539013]	likely benign	3	179198731	179198731	Human		name
150418078	CV1179657	single nucleotide variant	NM_006218.4(PIK3CA):c.-76-34C>G	not provided [RCV001550443]	likely benign	3	179198716	179198716	Human		name
150407070	CV1199912	single nucleotide variant	NM_006218.4(PIK3CA):c.352+11A>G	Cowden syndrome [RCV002072288]\|not provided [RCV001579637]	likely benign	3	179199188	179199188	Human	1	name
150464852	CV1241389	duplication	NM_006218.4(PIK3CA):c.813+85dup	not provided [RCV001649900]	benign	3	179201609	179201610	Human		name
150482635	CV1244307	single nucleotide variant	NM_006218.4(PIK3CA):c.814-15C>G	Cowden syndrome [RCV002073055]\|not provided [RCV001653154]	likely benign	3	179203529	179203529	Human	1	name
150464953	CV1252801	duplication	NM_006218.4(PIK3CA):c.562+88dup	not provided [RCV001670125]	benign	3	179199974	179199975	Human		name
151806365	CV1340222	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-4A>G	Cowden syndrome [RCV001867591]	likely benign\|uncertain significance	3	179209591	179209591	Human	1	name
151781801	CV1341934	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-1G>T	Cowden syndrome [RCV001897312]	uncertain significance	3	179218209	179218209	Human	1	name
151827113	CV1359896	duplication	NM_006218.4(PIK3CA):c.1747-6dup	Cowden syndrome [RCV002050354]\|not provided [RCV004591707]	likely benign\|uncertain significance	3	179219564	179219565	Human	1	name
151839864	CV1364375	single nucleotide variant	NM_006218.4(PIK3CA):c.562+20A>C	Cowden syndrome [RCV001994606]	likely benign	3	179199919	179199919	Human	1	name
151857066	CV1372882	single nucleotide variant	NM_006218.4(PIK3CA):c.1664+3A>G	Cowden syndrome [RCV002033906]	uncertain significance	3	179218337	179218337	Human	1	name
151737730	CV1469458	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+4A>G	Cowden syndrome [RCV002041905]	uncertain significance	3	179204592	179204592	Human	1	name
151721623	CV1489528	single nucleotide variant	NM_006218.4(PIK3CA):c.2417-4T>A	Cowden syndrome [RCV001891190]	likely benign\|uncertain significance	3	179225958	179225958	Human	1	name
152094720	CV1520946	single nucleotide variant	NM_006218.4(PIK3CA):c.563-16T>C	Cowden syndrome [RCV002078181]	likely benign	3	179201274	179201274	Human	1	name
152031637	CV1546082	duplication	NM_006218.4(PIK3CA):c.2188-7dup	Cowden syndrome [RCV002124600]	benign	3	179224065	179224066	Human	1	name
152088396	CV1562921	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+9G>A	Cowden syndrome [RCV002113734]	likely benign	3	179230385	179230385	Human	1	name
152030098	CV1568879	single nucleotide variant	NM_006218.4(PIK3CA):c.814-20G>A	Cowden syndrome [RCV002186372]	likely benign	3	179203524	179203524	Human	1	name
152051273	CV1596831	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+9C>T	Cowden syndrome [RCV002166909]	likely benign	3	179226049	179226049	Human	1	name
152164179	CV1619695	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+8T>C	Cowden syndrome [RCV002181482]	likely benign	3	179220060	179220060	Human	1	name
152074336	CV1620360	single nucleotide variant	NM_006218.4(PIK3CA):c.562+15A>C	Cowden syndrome [RCV002111888]	likely benign	3	179199914	179199914	Human	1	name
152026715	CV1626581	single nucleotide variant	NM_006218.4(PIK3CA):c.2785-5G>T	Cowden syndrome [RCV002185252]	likely benign	3	179230220	179230220	Human	1	name
156294862	CV1892317	single nucleotide variant	NM_006218.4(PIK3CA):c.1664+6T>G	Cowden syndrome [RCV003061615]	uncertain significance	3	179218340	179218340	Human	1	name
156310558	CV1895347	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+6G>A	Cowden syndrome [RCV003088420]	uncertain significance	3	179210344	179210344	Human	1	name
156169331	CV1930114	single nucleotide variant	NM_006218.4(PIK3CA):c.2784+5T>C	Cowden syndrome [RCV002624651]	uncertain significance	3	179230126	179230126	Human	1	name
156375523	CV1930426	single nucleotide variant	NM_006218.4(PIK3CA):c.1747-4A>G	Cowden syndrome [RCV002633797]	likely benign	3	179219567	179219567	Human	1	name
155949623	CV2069063	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-8T>C	Cowden syndrome [RCV002862276]	likely benign	3	179204495	179204495	Human	1	name
155977839	CV2073190	single nucleotide variant	NM_006218.4(PIK3CA):c.353-18T>C	Cowden syndrome [RCV002842375]	likely benign	3	179199672	179199672	Human	1	name
155974982	CV2079449	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+8C>A	Cowden syndrome [RCV002881661]	likely benign	3	179230384	179230384	Human	1	name
156137975	CV2094367	single nucleotide variant	NM_006218.4(PIK3CA):c.1912-4C>G	Cowden syndrome [RCV002890192]	likely benign	3	179219945	179219945	Human	1	name
156392138	CV2123355	single nucleotide variant	NM_006218.4(PIK3CA):c.1251+3A>G	Cowden syndrome [RCV002944013]	uncertain significance	3	179209703	179209703	Human	1	name
156218780	CV2128127	deletion	NM_006218.4(PIK3CA):c.814-15del	Cowden syndrome [RCV002958055]	benign	3	179203525	179203525	Human	1	name
156316772	CV2140351	single nucleotide variant	NM_006218.4(PIK3CA):c.1251+9T>G	Cowden syndrome [RCV003011434]	likely benign	3	179209709	179209709	Human	1	name
156315141	CV2144048	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+3A>T	Cowden syndrome [RCV003011339]	uncertain significance	3	179210341	179210341	Human	1	name
156005859	CV2166883	single nucleotide variant	NM_006218.4(PIK3CA):c.2187+4T>C	Cowden syndrome [RCV003017490]	uncertain significance	3	179221161	179221161	Human	1	name
11525572	CV245285	single nucleotide variant	NM_006218.4(PIK3CA):c.1747-9C>T	Cowden syndrome 1 [RCV000987360]\|Cowden syndrome [RCV000235538]\|not provided [RCV001689764]	benign\|likely benign	3	179219562	179219562	Human	2	name
11525574	CV245288	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-3T>C	Cowden syndrome [RCV000235677]	uncertain significance	3	179220983	179220983	Human	1	name
11525573	CV245291	single nucleotide variant	NM_006218.4(PIK3CA):c.2295-8T>C	Cowden syndrome [RCV000235551]	likely benign	3	179224692	179224692	Human	1	name
401924596	CV2804986	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+8C>T	not specified [RCV003404805]	likely benign\|uncertain significance	3	179203797	179203797	Human		name
405187191	CV2864392	single nucleotide variant	NM_006218.4(PIK3CA):c.563-14T>A	Cowden syndrome [RCV003589516]	uncertain significance	3	179201276	179201276	Human	1	name
405195839	CV2922837	single nucleotide variant	NM_006218.4(PIK3CA):c.562+16A>G	Cowden syndrome [RCV003590458]	likely benign	3	179199915	179199915	Human	1	name
405124243	CV2938730	single nucleotide variant	NM_006218.4(PIK3CA):c.353-17A>G	Cowden syndrome [RCV003753431]	likely benign	3	179199673	179199673	Human	1	name
405124029	CV2948074	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-8T>G	Cowden syndrome [RCV003753406]	likely benign	3	179204495	179204495	Human	1	name
405136633	CV3016268	single nucleotide variant	NM_006218.4(PIK3CA):c.2188-8T>C	Cowden syndrome [RCV003754745]	likely benign	3	179224073	179224073	Human	1	name
405118849	CV3027925	single nucleotide variant	NM_006218.4(PIK3CA):c.1251+1G>C	Cowden syndrome [RCV003752740]	uncertain significance	3	179209701	179209701	Human	1	name
405126819	CV3070678	single nucleotide variant	NM_006218.4(PIK3CA):c.2295-9A>G	Cowden syndrome [RCV003753748]	likely benign	3	179224691	179224691	Human	1	name
405230852	CV3157287	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-3T>C	Cowden syndrome [RCV003865237]	uncertain significance	3	179209592	179209592	Human	1	name
408369632	CV3514381	deletion	NM_006218.4(PIK3CA):c.2937-3del	PIK3CA-related disorder [RCV004737104]	uncertain significance	3	179234091	179234091	Human		name , trait , alternate_id
408385954	CV3520439	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+3G>C	not provided [RCV004760260]	uncertain significance	3	179229445	179229445	Human		name
597916748	CV3845849	deletion	NM_006218.4(PIK3CA):c.1251+5del	Cowden syndrome [RCV005183644]	uncertain significance	3	179209703	179209703	Human	1	name
12881625	CV393426	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+9A>G	Cowden syndrome [RCV000458168]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836826]\|not provided [RCV001672777]	benign\|likely benign	3	179220061	179220061	Human	1	name
12882617	CV393429	single nucleotide variant	NM_006218.4(PIK3CA):c.2417-4T>G	Cowden syndrome [RCV001501321]	likely benign	3	179225958	179225958	Human	1	name
12886237	CV393610	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+4A>C	Cowden syndrome [RCV000466857]	uncertain significance	3	179220056	179220056	Human	1	name
13809028	CV558846	single nucleotide variant	NM_006218.4(PIK3CA):c.2416+6G>A	Cowden syndrome [RCV000687561]	uncertain significance	3	179224827	179224827	Human	1	name
14730525	CV651077	single nucleotide variant	NM_006218.4(PIK3CA):c.2294+5T>C	Cowden syndrome [RCV000817441]	uncertain significance	3	179224192	179224192	Human	1	name
14738637	CV651079	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+3G>A	Cowden syndrome [RCV000821010]	uncertain significance	3	179229445	179229445	Human	1	name
14722216	CV651155	single nucleotide variant	NM_006218.4(PIK3CA):c.2937-3T>C	Cowden syndrome [RCV000813809]\|not provided [RCV003437435]	likely benign\|uncertain significance	3	179234091	179234091	Human	1	name
15141170	CV689736	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-9T>C	Cowden syndrome 1 [RCV000987357]\|Cowden syndrome [RCV001506172]\|PIK3CA-related disorder [RCV004538233]	likely benign	3	179204494	179204494	Human	2	name , alternate_id
15150686	CV689737	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+8C>T	Cowden syndrome [RCV000867099]	likely benign	3	179230384	179230384	Human	1	name
15134600	CV774940	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-6T>C	Cowden syndrome [RCV001456481]	likely benign	3	179218204	179218204	Human	1	name
15112781	CV787191	single nucleotide variant	NM_006218.4(PIK3CA):c.1405-8T>C	Cowden syndrome [RCV001466344]	likely benign	3	179210423	179210423	Human	1	name
26890594	CV850920	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+6C>T	Cowden syndrome [RCV001067911]	uncertain significance	3	179230382	179230382	Human	1	name
38597905	CV861301	single nucleotide variant	NM_006218.4(PIK3CA):c.352+40A>G	Squamous cell lung carcinoma [RCV001250964]\|not provided [RCV001644914]	benign\|uncertain significance	3	179199217	179199217	Human	2	name
38597907	CV861302	deletion	NM_006218.4(PIK3CA):c.562+40del	Squamous cell lung carcinoma [RCV001250965]	uncertain significance	3	179199939	179199939	Human	2	name
126750578	CV989382	single nucleotide variant	NM_006218.4(PIK3CA):c.2187+3G>A	Cowden syndrome [RCV001297350]	uncertain significance	3	179221160	179221160	Human	1	name
126741599	CV989385	single nucleotide variant	NM_006218.4(PIK3CA):c.2785-4A>G	Cowden syndrome [RCV001305434]	likely benign\|uncertain significance	3	179230221	179230221	Human	1	name
127250376	CV1070557	single nucleotide variant	NM_006218.4(PIK3CA):c.2416+10A>G	Cowden syndrome [RCV001417563]	likely benign	3	179224831	179224831	Human	1	name
127258097	CV1092253	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+10A>G	Cowden syndrome [RCV001438023]	likely benign	3	179229452	179229452	Human	1	name
150337366	CV1171072	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+95A>C	not provided [RCV001541599]	benign	3	179229537	179229537	Human		name
150417646	CV1179658	single nucleotide variant	NM_006218.4(PIK3CA):c.813+119G>A	not provided [RCV001550227]	likely benign	3	179201659	179201659	Human		name
150416294	CV1179659	single nucleotide variant	NM_006218.4(PIK3CA):c.814-304G>A	not provided [RCV001549547]	likely benign	3	179203240	179203240	Human		name
150423271	CV1183299	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+59C>T	not provided [RCV001555096]	likely benign	3	179229501	179229501	Human		name
150419724	CV1193281	single nucleotide variant	NM_006218.4(PIK3CA):c.2187+73T>C	not provided [RCV001569806]	likely benign	3	179221230	179221230	Human		name
150415181	CV1197037	single nucleotide variant	NM_006218.4(PIK3CA):c.353-224C>T	not provided [RCV001575282]	likely benign	3	179199466	179199466	Human		name
150440357	CV1201676	single nucleotide variant	NM_006218.4(PIK3CA):c.1664+91C>T	not provided [RCV001583488]	likely benign	3	179218425	179218425	Human		name
150448280	CV1216243	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+32A>G	not provided [RCV001611541]	benign	3	179230408	179230408	Human		name
150433908	CV1217043	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+62C>A	not provided [RCV001608945]	benign	3	179203851	179203851	Human		name
150451510	CV1220873	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-27A>T	not provided [RCV001611967]	benign	3	179220959	179220959	Human		name
150479286	CV1221480	single nucleotide variant	NM_006218.4(PIK3CA):c.814-174G>A	not provided [RCV001616559]	benign	3	179203370	179203370	Human		name
150499309	CV1224568	duplication	NM_006218.4(PIK3CA):c.814-277dup	not provided [RCV001620399]	benign	3	179203260	179203261	Human		name
150513985	CV1227998	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+54A>G	not provided [RCV001638276]	benign	3	179204642	179204642	Human		name
150507582	CV1229125	single nucleotide variant	NM_006218.4(PIK3CA):c.814-309C>T	not provided [RCV001635996]	benign	3	179203235	179203235	Human		name
150434974	CV1231226	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-38T>C	not provided [RCV001643871]	benign	3	179209557	179209557	Human		name
150435626	CV1233910	single nucleotide variant	NM_006218.4(PIK3CA):c.2417-36G>A	not provided [RCV001644037]	benign	3	179225926	179225926	Human		name
150431640	CV1234226	single nucleotide variant	NM_006218.4(PIK3CA):c.1912-28C>T	not provided [RCV001641879]	benign	3	179219921	179219921	Human		name
150491323	CV1239262	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-69G>T	not provided [RCV001654830]	benign	3	179204434	179204434	Human		name
150434897	CV1244065	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+37A>G	not provided [RCV001665272]	benign	3	179220089	179220089	Human		name
150452200	CV1260361	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+73C>G	not provided [RCV001680851]	benign	3	179226113	179226113	Human		name
150459084	CV1263962	single nucleotide variant	NM_006218.4(PIK3CA):c.1746+42T>C	not provided [RCV001681876]	benign	3	179219319	179219319	Human		name
150458095	CV1269583	single nucleotide variant	NM_006218.4(PIK3CA):c.2188-21C>T	not provided [RCV001693123]	benign	3	179224060	179224060	Human		name
150458357	CV1269622	single nucleotide variant	NM_006218.4(PIK3CA):c.-76-203G>T	not provided [RCV001693162]	benign	3	179198547	179198547	Human		name
150463403	CV1273148	single nucleotide variant	NM_006218.4(PIK3CA):c.2295-57C>G	not provided [RCV001693905]	benign	3	179224643	179224643	Human		name
151842423	CV1363141	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+15A>C	Cowden syndrome [RCV002031980]	likely benign	3	179226055	179226055	Human	1	name
8688915	CV136702	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-56C>T	Endometrial carcinoma [RCV000119354]	not provided	3	179218154	179218154	Human		name
8688918	CV136705	single nucleotide variant	NM_006218.4(PIK3CA):c.1664+18G>A	Cowden syndrome [RCV003753088]\|Familial cancer of breast [RCV000119358]	likely benign\|not provided	3	179218352	179218352	Human	2	name
151869574	CV1438918	single nucleotide variant	NM_006218.4(PIK3CA):c.1405-19C>A	Cowden syndrome [RCV002035481]	likely benign	3	179210412	179210412	Human	1	name
151795472	CV1482841	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+19T>G	Cowden syndrome [RCV002047500]	likely benign\|uncertain significance	3	179210357	179210357	Human	1	name
152037779	CV1524969	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+12T>C	Cowden syndrome [RCV002165233]	likely benign	3	179203801	179203801	Human	1	name
152074210	CV1557448	single nucleotide variant	NM_006218.4(PIK3CA):c.2937-15T>C	Cowden syndrome [RCV002129998]	likely benign	3	179234079	179234079	Human	1	name
152151574	CV1559698	single nucleotide variant	NM_006218.4(PIK3CA):c.1405-12T>C	Cowden syndrome [RCV002220897]	likely benign	3	179210419	179210419	Human	1	name
152113208	CV1573443	single nucleotide variant	NM_006218.4(PIK3CA):c.2416+11G>T	Cowden syndrome [RCV002215776]	likely benign	3	179224832	179224832	Human	1	name
152086035	CV1573820	single nucleotide variant	NM_006218.4(PIK3CA):c.2496-19C>T	Cowden syndrome [RCV002149939]	likely benign	3	179229253	179229253	Human	1	name
152079302	CV1579836	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+11T>G	Cowden syndrome [RCV002076156]	likely benign	3	179229453	179229453	Human	1	name
152141333	CV1583223	single nucleotide variant	NM_006218.4(PIK3CA):c.1539+17A>G	Cowden syndrome [RCV002120416]	likely benign	3	179210582	179210582	Human	1	name
152126670	CV1596279	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+16G>C	Cowden syndrome [RCV002118548]	likely benign	3	179226056	179226056	Human	1	name
152086379	CV1599475	single nucleotide variant	NM_006218.4(PIK3CA):c.2295-19G>C	Cowden syndrome [RCV002093542]	likely benign	3	179224681	179224681	Human	1	name
152131830	CV1604636	single nucleotide variant	NM_006218.4(PIK3CA):c.2496-13A>T	Cowden syndrome [RCV002099594]	likely benign	3	179229259	179229259	Human	1	name
152055122	CV1610085	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+18A>G	Cowden syndrome [RCV002167335]	likely benign	3	179230394	179230394	Human	1	name
152074030	CV1615565	single nucleotide variant	NM_006218.4(PIK3CA):c.1912-18T>G	Cowden syndrome [RCV002091977]	likely benign	3	179219931	179219931	Human	1	name
152042043	CV1621640	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-13T>C	Cowden syndrome [RCV002107875]	likely benign	3	179218197	179218197	Human	1	name
152030447	CV1622183	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+15G>A	Cowden syndrome [RCV002186470]	likely benign	3	179210353	179210353	Human	1	name
152174276	CV1622317	single nucleotide variant	NM_006218.4(PIK3CA):c.2295-15T>C	Cowden syndrome [RCV002184455]	likely benign	3	179224685	179224685	Human	1	name
152141691	CV1625347	single nucleotide variant	NM_006218.4(PIK3CA):c.2417-15T>C	Cowden syndrome [RCV002219460]	likely benign	3	179225947	179225947	Human	1	name
152146375	CV1631632	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+19G>A	Cowden syndrome [RCV002157498]	likely benign	3	179203808	179203808	Human	1	name
152071217	CV1638726	single nucleotide variant	NM_006218.4(PIK3CA):c.2496-18G>A	Cowden syndrome [RCV002075128]	likely benign	3	179229254	179229254	Human	1	name
152135207	CV1642215	single nucleotide variant	NM_006218.4(PIK3CA):c.2937-17G>A	Cowden syndrome [RCV002119608]	likely benign	3	179234077	179234077	Human	1	name
152170311	CV1651015	single nucleotide variant	NM_006218.4(PIK3CA):c.1252-10G>A	Cowden syndrome [RCV002143077]	likely benign	3	179210176	179210176	Human	1	name
152137499	CV1665028	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-11G>A	Cowden syndrome [RCV002119903]	likely benign	3	179220975	179220975	Human	1	name
156383287	CV1870543	single nucleotide variant	NM_006218.4(PIK3CA):c.1539+11T>C	Cowden syndrome [RCV003067354]	likely benign	3	179210576	179210576	Human	1	name
156386119	CV1874952	single nucleotide variant	NM_006218.4(PIK3CA):c.2667-20G>A	Cowden syndrome 5 [RCV003134599]\|Cowden syndrome [RCV003050868]	likely benign\|uncertain significance	3	179229984	179229984	Human	2	name
156409089	CV1877519	single nucleotide variant	NM_006218.4(PIK3CA):c.1405-14C>T	Cowden syndrome [RCV003071524]	likely benign	3	179210417	179210417	Human	1	name
156274236	CV1880495	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+17C>T	Cowden syndrome [RCV003060830]	likely benign	3	179210355	179210355	Human	1	name
156363191	CV1901367	single nucleotide variant	NM_006218.4(PIK3CA):c.2937-13T>C	Cowden syndrome [RCV002602641]	likely benign	3	179234081	179234081	Human	1	name
156361965	CV1905008	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-11G>T	Cowden syndrome [RCV002602562]	likely benign	3	179220975	179220975	Human	1	name
156402415	CV1908115	single nucleotide variant	NM_006218.4(PIK3CA):c.1747-11C>G	Cowden syndrome [RCV002585027]	likely benign	3	179219560	179219560	Human	1	name
156396683	CV1924952	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+17T>C	Cowden syndrome [RCV002654975]	likely benign	3	179229459	179229459	Human	1	name
156309569	CV1925017	single nucleotide variant	NM_006218.4(PIK3CA):c.2496-12C>T	Cowden syndrome [RCV002629681]	likely benign	3	179229260	179229260	Human	1	name
156306230	CV1930348	single nucleotide variant	NM_006218.4(PIK3CA):c.1747-15C>T	Cowden syndrome [RCV002629509]	likely benign	3	179219556	179219556	Human	1	name
156436170	CV1947864	single nucleotide variant	NM_006218.4(PIK3CA):c.2666+20C>T	Cowden syndrome [RCV003117984]	likely benign	3	179229462	179229462	Human	1	name
156357502	CV1966910	single nucleotide variant	NM_006218.4(PIK3CA):c.1746+19T>G	Cowden syndrome [RCV002581490]	likely benign	3	179219296	179219296	Human	1	name
156394493	CV1983650	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+12A>C	Cowden syndrome [RCV002605005]	likely benign	3	179210350	179210350	Human	1	name
156391348	CV1991306	single nucleotide variant	NM_006218.4(PIK3CA):c.2295-13A>G	Cowden syndrome [RCV002635020]	likely benign	3	179224687	179224687	Human	1	name
156118969	CV2015837	single nucleotide variant	NM_006218.4(PIK3CA):c.2188-19A>G	Cowden syndrome [RCV002695961]	likely benign	3	179224062	179224062	Human	1	name
156288815	CV2047107	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-19A>G	Cowden syndrome [RCV002770678]	likely benign	3	179218191	179218191	Human	1	name
155932769	CV2067427	deletion	NM_006218.4(PIK3CA):c.2015+20del	Cowden syndrome [RCV002838863]	likely benign	3	179220070	179220070	Human	1	name
156211811	CV2087253	single nucleotide variant	NM_006218.4(PIK3CA):c.1911+11G>T	Cowden syndrome [RCV002852855]	likely benign	3	179219746	179219746	Human	1	name
156314842	CV2089699	single nucleotide variant	NM_006218.4(PIK3CA):c.2188-15T>C	Cowden syndrome [RCV002898927]	likely benign	3	179224066	179224066	Human	1	name
156220676	CV2104772	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-11G>C	Cowden syndrome [RCV002932444]	likely benign	3	179220975	179220975	Human	1	name
156009104	CV2126754	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-14C>A	Cowden syndrome [RCV002975546]	likely benign	3	179220972	179220972	Human	1	name
156319493	CV2137962	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+19T>G	Cowden syndrome [RCV002963104]	likely benign	3	179204607	179204607	Human	1	name
156367347	CV2163746	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+19A>C	Cowden syndrome [RCV003031972]	likely benign	3	179226059	179226059	Human	1	name
156074886	CV2165451	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+15G>T	Cowden syndrome [RCV003037684]	likely benign	3	179210353	179210353	Human	1	name
11049938	CV225633	single nucleotide variant	NM_006218.4(PIK3CA):c.2416+67A>G	Hereditary cancer-predisposing syndrome [RCV000209260]	likely benign	3	179224888	179224888	Human	1	name
11050154	CV225634	single nucleotide variant	NM_006218.4(PIK3CA):c.814-150A>C	Hereditary cancer-predisposing syndrome [RCV000209709]	likely benign	3	179203394	179203394	Human	1	name
11051045	CV225638	single nucleotide variant	NM_006218.4(PIK3CA):c.-77+196G>A	Hereditary cancer-predisposing syndrome [RCV000209112]	likely benign	3	179148799	179148799	Human	1	name
11051040	CV225641	single nucleotide variant	NM_006218.4(PIK3CA):c.-76-138A>T	Hereditary cancer-predisposing syndrome [RCV000209102]	likely benign	3	179198612	179198612	Human	1	name
11050018	CV225642	single nucleotide variant	NM_006218.4(PIK3CA):c.1665-44C>A	Cowden syndrome 5 [RCV003316158]\|Hereditary cancer-predisposing syndrome [RCV000209425]\|not provided [RCV001682919]	benign\|likely benign	3	179219152	179219152	Human	2	name
11551885	CV251012	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-17C>A	Cowden syndrome 5 [RCV003316430]\|Cowden syndrome [RCV001520186]\|not provided [RCV001651193]\|not specified [RCV000253634]	benign	3	179204486	179204486	Human	2	name
11551515	CV251014	single nucleotide variant	NM_006218.4(PIK3CA):c.1747-13T>C	Cowden syndrome 5 [RCV003316431]\|Cowden syndrome [RCV001511000]\|not provided [RCV001610669]\|not specified [RCV000253145]	benign	3	179219558	179219558	Human	2	name
405175667	CV2888526	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-20G>A	Cowden syndrome [RCV003588072]	likely benign	3	179218190	179218190	Human	1	name
405178283	CV2890304	single nucleotide variant	NM_006218.4(PIK3CA):c.1911+14A>C	Cowden syndrome [RCV003588351]	likely benign	3	179219749	179219749	Human	1	name
405198796	CV2891947	single nucleotide variant	NM_006218.4(PIK3CA):c.2294+20A>G	Cowden syndrome [RCV003590951]	likely benign	3	179224207	179224207	Human	1	name
405184175	CV2896398	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+11G>A	Cowden syndrome [RCV003589159]	likely benign	3	179230387	179230387	Human	1	name
405179082	CV2897956	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+16G>A	Cowden syndrome [RCV003588435]	likely benign	3	179204604	179204604	Human	1	name
405133081	CV2994527	single nucleotide variant	NM_006218.4(PIK3CA):c.2667-11A>G	Cowden syndrome [RCV003754427]	likely benign	3	179229993	179229993	Human	1	name
405135089	CV3004465	single nucleotide variant	NM_006218.4(PIK3CA):c.1145+13A>G	Cowden syndrome [RCV003754619]	likely benign	3	179204601	179204601	Human	1	name
405136955	CV3006815	single nucleotide variant	NM_006218.4(PIK3CA):c.2496-10C>T	Cowden syndrome [RCV003754766]	likely benign	3	179229262	179229262	Human	1	name
405094495	CV3134723	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-17T>C	Cowden syndrome [RCV003835069]	likely benign	3	179209578	179209578	Human	1	name
405106741	CV3136171	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+18C>T	Cowden syndrome [RCV003835517]	likely benign	3	179220070	179220070	Human	1	name
405047161	CV3154547	single nucleotide variant	NM_006218.4(PIK3CA):c.2417-18A>G	Cowden syndrome [RCV003849223]	likely benign	3	179225944	179225944	Human	1	name
12739017	CV360850	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+12T>A	Cowden syndrome [RCV002524666]\|Overgrowth [RCV000415184]	likely benign\|uncertain significance	3	179203801	179203801	Human	6	name
597904302	CV3784631	single nucleotide variant	NM_006218.4(PIK3CA):c.1404+11T>C	Cowden syndrome [RCV005127682]	likely benign	3	179210349	179210349	Human	1	name
597973430	CV3820475	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-12T>G	Cowden syndrome [RCV005167992]	likely benign	3	179204491	179204491	Human	1	name
15108576	CV695185	single nucleotide variant	NM_006218.4(PIK3CA):c.1746+10T>C	Cowden syndrome [RCV001469219]	likely benign	3	179219287	179219287	Human	1	name
21071266	CV790362	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-30G>A	Cowden syndrome 1 [RCV000987358]\|not provided [RCV001712836]	benign\|likely benign	3	179209565	179209565	Human	1	name
21071270	CV790365	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-29A>T	Cowden syndrome 1 [RCV000987363]\|not provided [RCV001655655]	benign	3	179220957	179220957	Human	1	name
21071271	CV790366	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-12C>T	Cowden syndrome 1 [RCV000987364]\|Cowden syndrome [RCV002067576]\|not provided [RCV001597238]\|not specified [RCV001700962]	benign	3	179220974	179220974	Human	2	name
21406055	CV799318	single nucleotide variant	NM_006218.4(PIK3CA):c.1060-18C>A	not provided [RCV001673003]\|not specified [RCV001580077]	benign	3	179204485	179204485	Human		name
38597908	CV861303	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-55C>T	Squamous cell lung carcinoma [RCV001250966]\|not provided [RCV001540893]	benign\|uncertain significance	3	179218155	179218155	Human	2	name
150339589	CV1167277	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+261T>C	not provided [RCV001534344]	likely benign	3	179204050	179204050	Human		name
150339721	CV1167278	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-272C>A	not provided [RCV001534508]	benign	3	179209323	179209323	Human		name
150421865	CV1179660	single nucleotide variant	NM_006218.4(PIK3CA):c.1251+157C>T	not provided [RCV001552210]	likely benign	3	179209857	179209857	Human		name
150426838	CV1186556	single nucleotide variant	NM_006218.4(PIK3CA):c.2416+285G>T	not provided [RCV001560103]	likely benign	3	179225106	179225106	Human		name
150427790	CV1186557	single nucleotide variant	NM_006218.4(PIK3CA):c.2937-216T>C	not provided [RCV001561395]	likely benign	3	179233878	179233878	Human		name
150427651	CV1186558	single nucleotide variant	NM_006218.4(PIK3CA):c.2937-155A>G	not provided [RCV001561214]	likely benign	3	179233939	179233939	Human		name
150460381	CV1205767	single nucleotide variant	NM_006218.4(PIK3CA):c.2416+213A>C	not provided [RCV001586724]	likely benign	3	179225034	179225034	Human		name
150514192	CV1210905	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-234T>C	not provided [RCV001598948]	benign	3	179209361	179209361	Human		name
150463787	CV1214835	single nucleotide variant	NM_006218.4(PIK3CA):c.2936+221A>T	not provided [RCV001613830]	benign	3	179230597	179230597	Human		name
150465522	CV1218035	single nucleotide variant	NM_006218.4(PIK3CA):c.1540-199T>C	not provided [RCV001614160]	benign	3	179218011	179218011	Human		name
150454407	CV1219977	single nucleotide variant	NM_006218.4(PIK3CA):c.2016-220A>T	not provided [RCV001612359]	benign	3	179220766	179220766	Human		name
150504504	CV1240767	deletion	NM_006218.4(PIK3CA):c.2295-220del	not provided [RCV001657610]	benign	3	179224480	179224480	Human		name
150440526	CV1265122	single nucleotide variant	NM_006218.4(PIK3CA):c.2667-108G>C	not provided [RCV001679115]	benign	3	179229896	179229896	Human		name
150440586	CV1265422	single nucleotide variant	NM_006218.4(PIK3CA):c.1664+105T>G	not provided [RCV001679125]	benign	3	179218439	179218439	Human		name
150454788	CV1266072	single nucleotide variant	NM_006218.4(PIK3CA):c.2187+306A>T	not provided [RCV001692649]	benign	3	179221463	179221463	Human		name
150468083	CV1269339	deletion	NM_006218.4(PIK3CA):c.1252-114del	not provided [RCV001694747]	benign	3	179210061	179210061	Human		name
150449935	CV1273700	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+144G>T	not provided [RCV001691800]	benign	3	179226184	179226184	Human		name
150461369	CV1275945	single nucleotide variant	NM_006218.4(PIK3CA):c.1059+170C>A	not provided [RCV001709883]	benign	3	179203959	179203959	Human		name
11049971	CV225630	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+349A>G	Hereditary cancer-predisposing syndrome [RCV000209332]	likely benign	3	179220401	179220401	Human	1	name
11050985	CV225632	single nucleotide variant	NM_006218.4(PIK3CA):c.2667-148A>G	Hereditary cancer-predisposing syndrome [RCV000208938]	likely benign	3	179229856	179229856	Human	1	name
11049856	CV225635	single nucleotide variant	NM_006218.4(PIK3CA):c.2015+313A>G	Hereditary cancer-predisposing syndrome [RCV000209089]	likely benign	3	179220365	179220365	Human	1	name
11049948	CV225636	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+483C>T	Hereditary cancer-predisposing syndrome [RCV000209284]	likely benign	3	179226523	179226523	Human	1	name
11051225	CV225637	single nucleotide variant	NM_006218.4(PIK3CA):c.1146-955A>G	Hereditary cancer-predisposing syndrome [RCV000209612]	likely benign	3	179208640	179208640	Human	1	name
11051159	CV225639	single nucleotide variant	NM_006218.4(PIK3CA):c.2667-246T>C	Hereditary cancer-predisposing syndrome [RCV000209430]	likely benign	3	179229758	179229758	Human	1	name
11050067	CV225631	single nucleotide variant	NM_006218.4(PIK3CA):c.2495+1357T>G	Hereditary cancer-predisposing syndrome [RCV000209534]	likely benign	3	179227397	179227397	Human	1	name
11050099	CV225640	single nucleotide variant	NM_006218.4(PIK3CA):c.2187+1078A>T	Hereditary cancer-predisposing syndrome [RCV000209603]	likely benign	3	179222235	179222235	Human	1	name
155708091	CV1822448	single nucleotide variant	NM_006218.4(PIK3CA):c.6T>G (p.Pro2=)	Inborn genetic diseases [RCV002378241]	likely benign	3	179198831	179198831	Human	1	name
152093981	CV1561696	single nucleotide variant	NM_006218.4(PIK3CA):c.15A>G (p.Pro5=)	Cowden syndrome [RCV002194667]\|Inborn genetic diseases [RCV003303728]	likely benign	3	179198840	179198840	Human	2	name
155689578	CV1850555	single nucleotide variant	NM_006218.4(PIK3CA):c.21A>C (p.Ser7=)	Inborn genetic diseases [RCV002425679]	likely benign	3	179198846	179198846	Human	1	name
155689593	CV1850558	single nucleotide variant	NM_006218.4(PIK3CA):c.21A>G (p.Ser7=)	Inborn genetic diseases [RCV002425682]	likely benign	3	179198846	179198846	Human	1	name
598227821	CV3894550	single nucleotide variant	NM_006218.4(PIK3CA):c.18A>G (p.Ser6=)	not provided [RCV005257794]	likely benign	3	179198843	179198843	Human		name
127299417	CV1113777	single nucleotide variant	NM_006218.4(PIK3CA):c.30G>A (p.Leu10=)	Cowden syndrome [RCV001478167]\|Inborn genetic diseases [RCV003298838]	likely benign	3	179198855	179198855	Human	2	name
127293605	CV1113778	single nucleotide variant	NM_006218.4(PIK3CA):c.61C>T (p.Leu21=)	Cowden syndrome [RCV001459262]\|Inborn genetic diseases [RCV003284337]	likely benign	3	179198886	179198886	Human	2	name
150432303	CV1236715	duplication	NM_006218.4(PIK3CA):c.813+79_813+85dup	not provided [RCV001642120]	benign	3	179201609	179201610	Human		name
150488254	CV1251639	duplication	NM_006218.4(PIK3CA):c.813+81_813+85dup	not provided [RCV001674311]	benign	3	179201609	179201610	Human		name
150506791	CV1258054	duplication	NM_006218.4(PIK3CA):c.813+80_813+85dup	not provided [RCV001678271]	benign	3	179201609	179201610	Human		name
152060809	CV1618315	microsatellite	NM_006218.4(PIK3CA):c.1747-3_1747-2del	Cowden syndrome [RCV002090230]	likely benign	3	179219565	179219566	Human		name
155738439	CV1797905	single nucleotide variant	NM_006218.4(PIK3CA):c.42C>T (p.His14=)	Cowden syndrome [RCV003102566]\|Inborn genetic diseases [RCV002331873]	likely benign	3	179198867	179198867	Human	2	name
155725894	CV1799608	single nucleotide variant	NM_006218.4(PIK3CA):c.51C>A (p.Pro17=)	Inborn genetic diseases [RCV002338603]	likely benign	3	179198876	179198876	Human	1	name
155725904	CV1799610	single nucleotide variant	NM_006218.4(PIK3CA):c.51C>G (p.Pro17=)	Inborn genetic diseases [RCV002338605]	likely benign	3	179198876	179198876	Human	1	name
155674300	CV1810119	single nucleotide variant	NM_006218.4(PIK3CA):c.54A>C (p.Pro18=)	Cowden syndrome [RCV003102738]\|Inborn genetic diseases [RCV002351620]	likely benign	3	179198879	179198879	Human	2	name
155747175	CV1816722	single nucleotide variant	NM_006218.4(PIK3CA):c.78A>G (p.Leu26=)	Inborn genetic diseases [RCV002416626]	likely benign	3	179198903	179198903	Human	1	name
155697921	CV1816806	single nucleotide variant	NM_006218.4(PIK3CA):c.81A>G (p.Pro27=)	Inborn genetic diseases [RCV002427903]	likely benign	3	179198906	179198906	Human	1	name
155669329	CV1822058	single nucleotide variant	NM_006218.4(PIK3CA):c.66A>G (p.Val22=)	Inborn genetic diseases [RCV002367130]	likely benign	3	179198891	179198891	Human	1	name
155726968	CV1822361	single nucleotide variant	NM_006218.4(PIK3CA):c.69A>G (p.Glu23=)	Inborn genetic diseases [RCV002364733]	likely benign	3	179198894	179198894	Human	1	name
155702455	CV1825340	single nucleotide variant	NM_006218.4(PIK3CA):c.96G>C (p.Val32=)	Inborn genetic diseases [RCV002376663]	likely benign	3	179198921	179198921	Human	1	name
155731140	CV1825903	single nucleotide variant	NM_006218.4(PIK3CA):c.99T>C (p.Thr33=)	Inborn genetic diseases [RCV002383120]	likely benign	3	179198924	179198924	Human	1	name
155796828	CV1863018	single nucleotide variant	NM_006218.4(PIK3CA):c.2T>C (p.Met1Thr)	Cowden syndrome 5 [RCV002470292]	uncertain significance	3	179198827	179198827	Human	1	name
156100823	CV2386750	single nucleotide variant	NM_006218.4(PIK3CA):c.4C>T (p.Pro2Ser)	Inborn genetic diseases [RCV002739093]	uncertain significance	3	179198829	179198829	Human	1	name
401719426	CV2729209	single nucleotide variant	NM_006218.4(PIK3CA):c.96G>T (p.Val32=)	Inborn genetic diseases [RCV003311389]	likely benign	3	179198921	179198921	Human	1	name
401756136	CV2729213	single nucleotide variant	NM_006218.4(PIK3CA):c.60C>A (p.Ile20=)	Inborn genetic diseases [RCV003278650]	likely benign	3	179198885	179198885	Human	1	name
405722318	CV3381097	single nucleotide variant	NM_006218.4(PIK3CA):c.63A>G (p.Leu21=)	Inborn genetic diseases [RCV004524018]	likely benign	3	179198888	179198888	Human	1	name
405722404	CV3381108	single nucleotide variant	NM_006218.4(PIK3CA):c.84T>C (p.Asn28=)	Inborn genetic diseases [RCV004524029]	likely benign	3	179198909	179198909	Human	1	name
407511993	CV3463573	single nucleotide variant	NM_006218.4(PIK3CA):c.54A>G (p.Pro18=)	Inborn genetic diseases [RCV004648236]	likely benign	3	179198879	179198879	Human	1	name
597928547	CV3851804	single nucleotide variant	NM_006218.4(PIK3CA):c.60C>T (p.Ile20=)	Cowden syndrome [RCV005206272]	likely benign	3	179198885	179198885	Human	1	name
15172633	CV743914	duplication	NM_006218.4(PIK3CA):c.2936+5_2936+7dup	not provided [RCV000905706]	likely benign	3	179230380	179230381	Human		name
26894255	CV827717	single nucleotide variant	NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)	Cowden syndrome [RCV001047554]\|Epidermal nevus [RCV001196519]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001262942]\|not provided [RCV004590053]	uncertain significance	3	179198826	179198826	Human	4	name
127243197	CV1070553	single nucleotide variant	NM_006218.4(PIK3CA):c.171C>G (p.Pro57=)	Cowden syndrome [RCV001416100]\|Inborn genetic diseases [RCV002404978]	likely benign	3	179198996	179198996	Human	2	name
127276268	CV1092246	single nucleotide variant	NM_006218.4(PIK3CA):c.267T>G (p.Leu89=)	Cowden syndrome [RCV001432697]	likely benign	3	179199092	179199092	Human	1	name
127322189	CV1113779	single nucleotide variant	NM_006218.4(PIK3CA):c.228A>G (p.Glu76=)	Cowden syndrome [RCV001467483]\|Inborn genetic diseases [RCV002456801]	likely benign	3	179199053	179199053	Human	2	name
150541768	CV1302366	single nucleotide variant	NM_006218.4(PIK3CA):c.11G>C (p.Arg4Pro)	not provided [RCV001761056]	uncertain significance	3	179198836	179198836	Human		name
151353409	CV1326520	single nucleotide variant	NM_006218.4(PIK3CA):c.174C>T (p.Leu58=)	Inborn genetic diseases [RCV003365456]\|not provided [RCV001816375]	likely benign	3	179198999	179198999	Human	1	name
152092907	CV1593240	single nucleotide variant	NM_006218.4(PIK3CA):c.171C>T (p.Pro57=)	Cowden syndrome [RCV002094436]\|Inborn genetic diseases [RCV003375591]\|not specified [RCV005406358]	likely benign	3	179198996	179198996	Human	2	name
152096796	CV1597543	single nucleotide variant	NM_006218.4(PIK3CA):c.147A>G (p.Leu49=)	Cowden syndrome [RCV002114800]\|Inborn genetic diseases [RCV004651954]	likely benign	3	179198972	179198972	Human	2	name
152133035	CV1621550	deletion	NM_006218.4(PIK3CA):c.1251+8_1251+11del	Cowden syndrome [RCV002218336]	likely benign	3	179209707	179209710	Human	1	name
155680481	CV1812644	single nucleotide variant	NM_006218.4(PIK3CA):c.123A>C (p.Thr41=)	Inborn genetic diseases [RCV002370957]	likely benign	3	179198948	179198948	Human	1	name
155732613	CV1834053	single nucleotide variant	NM_006218.4(PIK3CA):c.162A>G (p.Arg54=)	Inborn genetic diseases [RCV002401237]	likely benign	3	179198987	179198987	Human	1	name
155746235	CV1839019	single nucleotide variant	NM_006218.4(PIK3CA):c.186T>C (p.Leu62=)	Inborn genetic diseases [RCV002415090]	likely benign	3	179199011	179199011	Human	1	name
155746238	CV1839021	single nucleotide variant	NM_006218.4(PIK3CA):c.186T>G (p.Leu62=)	Cowden syndrome [RCV003774534]\|Inborn genetic diseases [RCV002415092]	likely benign	3	179199011	179199011	Human	2	name
155743415	CV1839410	single nucleotide variant	NM_006218.4(PIK3CA):c.183T>A (p.Leu61=)	Inborn genetic diseases [RCV002412829]	likely benign	3	179199008	179199008	Human	1	name
155693554	CV1842188	single nucleotide variant	NM_006218.4(PIK3CA):c.261A>G (p.Arg87=)	Inborn genetic diseases [RCV002426385]	likely benign	3	179199086	179199086	Human	1	name
155692121	CV1845601	single nucleotide variant	NM_006218.4(PIK3CA):c.258A>G (p.Thr86=)	Inborn genetic diseases [RCV002426122]	likely benign	3	179199083	179199083	Human	1	name
155671395	CV1847536	single nucleotide variant	NM_006218.4(PIK3CA):c.222T>C (p.Thr74=)	Inborn genetic diseases [RCV002420131]	likely benign	3	179199047	179199047	Human	1	name
155686440	CV1852575	single nucleotide variant	NM_006218.4(PIK3CA):c.279G>A (p.Arg93=)	Inborn genetic diseases [RCV002441514]	likely benign	3	179199104	179199104	Human	1	name
155702093	CV1852966	single nucleotide variant	NM_006218.4(PIK3CA):c.264A>T (p.Arg88=)	Inborn genetic diseases [RCV002428681]	likely benign	3	179199089	179199089	Human	1	name
155678853	CV1854071	single nucleotide variant	NM_006218.4(PIK3CA):c.273C>T (p.Asp91=)	Inborn genetic diseases [RCV002439221]	likely benign	3	179199098	179199098	Human	1	name
155681723	CV1854592	single nucleotide variant	NM_006218.4(PIK3CA):c.291C>A (p.Pro97=)	Inborn genetic diseases [RCV002439924]	likely benign	3	179199116	179199116	Human	1	name
155674853	CV1855838	single nucleotide variant	NM_006218.4(PIK3CA):c.288A>G (p.Gln96=)	Inborn genetic diseases [RCV002437889]	likely benign	3	179199113	179199113	Human	1	name
329366748	CV2426830	single nucleotide variant	NM_006218.4(PIK3CA):c.234A>G (p.Glu78=)	Inborn genetic diseases [RCV003182890]	likely benign	3	179199059	179199059	Human	1	name
11525579	CV245289	single nucleotide variant	NM_006218.4(PIK3CA):c.213A>G (p.Val71=)	Cowden syndrome [RCV001457698]\|Inborn genetic diseases [RCV003298311]	likely benign	3	179199038	179199038	Human	2	name
401719409	CV2729201	single nucleotide variant	NM_006218.4(PIK3CA):c.180A>G (p.Gln60=)	Inborn genetic diseases [RCV003311384]	likely benign	3	179199005	179199005	Human	1	name
401899438	CV2790417	single nucleotide variant	NM_006218.4(PIK3CA):c.189A>G (p.Gln63=)	Cowden syndrome [RCV003753273]\|Inborn genetic diseases [RCV003377601]	likely benign	3	179199014	179199014	Human	2	name
405192978	CV2920541	single nucleotide variant	NM_006218.4(PIK3CA):c.201T>G (p.Ser67=)	Cowden syndrome [RCV003590089]	likely benign	3	179199026	179199026	Human	1	name
405721970	CV3381049	single nucleotide variant	NM_006218.4(PIK3CA):c.105A>G (p.Glu35=)	Inborn genetic diseases [RCV004523971]	likely benign	3	179198930	179198930	Human	1	name
405722155	CV3381075	single nucleotide variant	NM_006218.4(PIK3CA):c.201T>C (p.Ser67=)	Inborn genetic diseases [RCV004523997]	likely benign	3	179199026	179199026	Human	1	name
407530740	CV3463577	single nucleotide variant	NM_006218.4(PIK3CA):c.123A>G (p.Thr41=)	Inborn genetic diseases [RCV004657211]	likely benign	3	179198948	179198948	Human	1	name
407530741	CV3463578	single nucleotide variant	NM_006218.4(PIK3CA):c.114T>G (p.Arg38=)	Inborn genetic diseases [RCV004657212]	likely benign	3	179198939	179198939	Human	1	name
407530746	CV3463585	single nucleotide variant	NM_006218.4(PIK3CA):c.204C>T (p.Tyr68=)	Inborn genetic diseases [RCV004657215]	likely benign	3	179199029	179199029	Human	1	name
596931421	CV3531757	single nucleotide variant	NM_006218.4(PIK3CA):c.25G>A (p.Glu9Lys)	not provided [RCV004781319]	uncertain significance	3	179198850	179198850	Human		name
597716100	CV3579715	single nucleotide variant	NM_006218.4(PIK3CA):c.132C>T (p.Thr44=)	Inborn genetic diseases [RCV004959806]	likely benign	3	179198957	179198957	Human	1	name
12882030	CV393407	single nucleotide variant	NM_006218.4(PIK3CA):c.252T>C (p.Asp84=)	Cowden syndrome [RCV001426480]	likely benign	3	179199077	179199077	Human	1	name
598272613	CV4006652	single nucleotide variant	NM_006218.4(PIK3CA):c.102A>G (p.Leu34=)	Inborn genetic diseases [RCV005389430]	likely benign	3	179198927	179198927	Human	1	name
13486773	CV452303	single nucleotide variant	NM_006218.4(PIK3CA):c.225A>G (p.Gln75=)	Cowden syndrome [RCV000553909]\|Inborn genetic diseases [RCV002448618]\|PIK3CA-related disorder [RCV004541646]\|not provided [RCV001815400]	likely benign	3	179199050	179199050	Human	2	name , alternate_id
13478672	CV452418	single nucleotide variant	NM_006218.4(PIK3CA):c.210C>T (p.Phe70=)	Cowden syndrome [RCV000550176]\|Inborn genetic diseases [RCV002420354]	likely benign	3	179199035	179199035	Human	2	name
13613507	CV519162	single nucleotide variant	NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)	Cowden syndrome 1 [RCV000987356]\|Cowden syndrome [RCV000631223]\|Inborn genetic diseases [RCV002404733]	likely benign	3	179198993	179198993	Human	3	name
15138214	CV691332	single nucleotide variant	NM_006218.4(PIK3CA):c.198T>C (p.Ser66=)	Cowden syndrome [RCV002540018]\|Inborn genetic diseases [RCV002416081]	likely benign	3	179199023	179199023	Human	2	name
15164428	CV733923	single nucleotide variant	NM_006218.4(PIK3CA):c.291C>T (p.Pro97=)	Cowden syndrome [RCV002537571]\|Inborn genetic diseases [RCV002434195]	likely benign	3	179199116	179199116	Human	2	name
126912334	CV1042073	single nucleotide variant	NM_006218.4(PIK3CA):c.312A>G (p.Pro104=)	Cowden syndrome [RCV001369681]	likely benign\|uncertain significance	3	179199137	179199137	Human	1	name
127279356	CV1070555	single nucleotide variant	NM_006218.4(PIK3CA):c.825C>T (p.Ser275=)	Cowden syndrome [RCV001409055]	likely benign	3	179203555	179203555	Human	1	name
127253273	CV1092248	single nucleotide variant	NM_006218.4(PIK3CA):c.489A>G (p.Ala163=)	Cowden syndrome [RCV001425982]\|Inborn genetic diseases [RCV002329470]	likely benign	3	179199826	179199826	Human	2	name
127306382	CV1113780	single nucleotide variant	NM_006218.4(PIK3CA):c.402A>T (p.Pro134=)	Cowden syndrome [RCV001462768]	likely benign	3	179199739	179199739	Human	1	name
127300001	CV1113781	single nucleotide variant	NM_006218.4(PIK3CA):c.417C>T (p.Phe139=)	Cowden syndrome [RCV001460996]\|Inborn genetic diseases [RCV003375310]	likely benign	3	179199754	179199754	Human	2	name
127331547	CV1134668	single nucleotide variant	NM_006218.4(PIK3CA):c.480T>C (p.His160=)	Cowden syndrome [RCV001488881]\|Inborn genetic diseases [RCV002334514]	likely benign	3	179199817	179199817	Human	2	name
127332305	CV1134669	single nucleotide variant	NM_006218.4(PIK3CA):c.705C>T (p.Ser235=)	Cowden syndrome [RCV001489412]\|Inborn genetic diseases [RCV002368502]	likely benign	3	179201432	179201432	Human	2	name
150422413	CV1179661	deletion	NM_006218.4(PIK3CA):c.1404+42_1404+44del	not provided [RCV001552600]	likely benign	3	179210380	179210382	Human		name
150438054	CV1286782	single nucleotide variant	NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001837031]	uncertain significance	3	179198918	179198918	Human		name
151710794	CV1372553	single nucleotide variant	NM_006218.4(PIK3CA):c.37A>G (p.Ile13Val)	Cowden syndrome [RCV001964254]	uncertain significance	3	179198862	179198862	Human	1	name
152042071	CV1537890	single nucleotide variant	NM_006218.4(PIK3CA):c.339C>G (p.Leu113=)	Cowden syndrome [RCV002165819]\|Inborn genetic diseases [RCV002454359]	likely benign	3	179199164	179199164	Human	2	name
152111396	CV1551429	single nucleotide variant	NM_006218.4(PIK3CA):c.579G>A (p.Val193=)	Cowden syndrome [RCV002196823]	likely benign	3	179201306	179201306	Human	1	name
152052711	CV1581136	single nucleotide variant	NM_006218.4(PIK3CA):c.594T>C (p.Val198=)	Cowden syndrome [RCV002089360]	likely benign	3	179201321	179201321	Human	1	name
152087043	CV1589910	single nucleotide variant	NM_006218.4(PIK3CA):c.876C>T (p.Ser292=)	Cowden syndrome [RCV002193767]	likely benign	3	179203606	179203606	Human	1	name
152108654	CV1643607	single nucleotide variant	NM_006218.4(PIK3CA):c.564G>C (p.Gly188=)	Cowden syndrome [RCV002096540]\|Inborn genetic diseases [RCV002346435]	likely benign	3	179201291	179201291	Human	2	name
155678950	CV1786776	single nucleotide variant	NM_006218.4(PIK3CA):c.372A>G (p.Pro124=)	Inborn genetic diseases [RCV002353047]	likely benign	3	179199709	179199709	Human	1	name
155725016	CV1790889	single nucleotide variant	NM_006218.4(PIK3CA):c.418C>A (p.Arg140=)	Inborn genetic diseases [RCV002327767]	likely benign	3	179199755	179199755	Human	1	name
155694030	CV1791667	single nucleotide variant	NM_006218.4(PIK3CA):c.315A>G (p.Val105=)	Cowden syndrome [RCV003099243]\|Inborn genetic diseases [RCV002320899]	likely benign	3	179199140	179199140	Human	2	name
155696849	CV1793881	single nucleotide variant	NM_006218.4(PIK3CA):c.399T>C (p.Asp133=)	Inborn genetic diseases [RCV002375617]	likely benign	3	179199736	179199736	Human	1	name
155712124	CV1795375	single nucleotide variant	NM_006218.4(PIK3CA):c.327A>G (p.Glu109=)	Inborn genetic diseases [RCV002325051]	likely benign	3	179199152	179199152	Human	1	name
155666650	CV1796455	single nucleotide variant	NM_006218.4(PIK3CA):c.375G>T (p.Val125=)	Inborn genetic diseases [RCV002349367]	likely benign	3	179199712	179199712	Human	1	name
155735066	CV1797892	single nucleotide variant	NM_006218.4(PIK3CA):c.42C>G (p.His14Gln)	Inborn genetic diseases [RCV002330298]	uncertain significance	3	179198867	179198867	Human	1	name
155738726	CV1801448	single nucleotide variant	NM_006218.4(PIK3CA):c.45G>C (p.Leu15Phe)	Cowden syndrome [RCV003588820]\|Inborn genetic diseases [RCV002342371]	uncertain significance	3	179198870	179198870	Human	2	name
155739349	CV1801668	single nucleotide variant	NM_006218.4(PIK3CA):c.462G>A (p.Arg154=)	Inborn genetic diseases [RCV002342560]	likely benign	3	179199799	179199799	Human	1	name
155745619	CV1802909	single nucleotide variant	NM_006218.4(PIK3CA):c.537G>A (p.Lys179=)	Inborn genetic diseases [RCV002347118]	likely benign	3	179199874	179199874	Human	1	name
155689403	CV1803988	single nucleotide variant	NM_006218.4(PIK3CA):c.597T>C (p.Ser199=)	Inborn genetic diseases [RCV002356142]	likely benign	3	179201324	179201324	Human	1	name
155729617	CV1808423	single nucleotide variant	NM_006218.4(PIK3CA):c.44T>G (p.Leu15Trp)	Inborn genetic diseases [RCV002328697]	uncertain significance	3	179198869	179198869	Human	1	name
155730787	CV1808495	single nucleotide variant	NM_006218.4(PIK3CA):c.450T>C (p.Ala150=)	Inborn genetic diseases [RCV002339910]	likely benign	3	179199787	179199787	Human	1	name
155735111	CV1808718	single nucleotide variant	NM_006218.4(PIK3CA):c.453G>C (p.Val151=)	Inborn genetic diseases [RCV002330317]	likely benign	3	179199790	179199790	Human	1	name
155719377	CV1809126	single nucleotide variant	NM_006218.4(PIK3CA):c.477T>G (p.Pro159=)	Inborn genetic diseases [RCV002337777]	likely benign	3	179199814	179199814	Human	1	name
155735475	CV1809896	single nucleotide variant	NM_006218.4(PIK3CA):c.525A>G (p.Pro175=)	Inborn genetic diseases [RCV002340989]	likely benign	3	179199862	179199862	Human	1	name
155698344	CV1811014	single nucleotide variant	NM_006218.4(PIK3CA):c.606T>C (p.Asn202=)	Inborn genetic diseases [RCV002358380]	likely benign	3	179201333	179201333	Human	1	name
155705376	CV1811186	single nucleotide variant	NM_006218.4(PIK3CA):c.609C>T (p.Asp203=)	Cowden syndrome [RCV003098133]\|Inborn genetic diseases [RCV002360113]	likely benign	3	179201336	179201336	Human	2	name
155710225	CV1811612	single nucleotide variant	NM_006218.4(PIK3CA):c.639T>C (p.His213=)	Inborn genetic diseases [RCV002361549]	likely benign	3	179201366	179201366	Human	1	name
155680835	CV1812729	single nucleotide variant	NM_006218.4(PIK3CA):c.723C>G (p.Leu241=)	Inborn genetic diseases [RCV002371042]	likely benign	3	179201450	179201450	Human	1	name
155728855	CV1813049	single nucleotide variant	NM_006218.4(PIK3CA):c.729T>C (p.Val243=)	Inborn genetic diseases [RCV002382743]	likely benign	3	179201456	179201456	Human	1	name
155747331	CV1813568	single nucleotide variant	NM_006218.4(PIK3CA):c.792A>G (p.Lys264=)	Inborn genetic diseases [RCV002416764]	likely benign	3	179201519	179201519	Human	1	name
155747490	CV1813713	single nucleotide variant	NM_006218.4(PIK3CA):c.795T>C (p.Tyr265=)	Inborn genetic diseases [RCV002416905]	likely benign	3	179201522	179201522	Human	1	name
155689620	CV1814514	single nucleotide variant	NM_006218.4(PIK3CA):c.879T>A (p.Leu293=)	Inborn genetic diseases [RCV002373687]	likely benign	3	179203609	179203609	Human	1	name
155677527	CV1815096	single nucleotide variant	NM_006218.4(PIK3CA):c.681A>G (p.Lys227=)	Inborn genetic diseases [RCV002369569]	likely benign	3	179201408	179201408	Human	1	name
155714353	CV1815265	single nucleotide variant	NM_006218.4(PIK3CA):c.684A>G (p.Lys228=)	Inborn genetic diseases [RCV002362100]	likely benign	3	179201411	179201411	Human	1	name
155715000	CV1815435	single nucleotide variant	NM_006218.4(PIK3CA):c.687T>A (p.Thr229=)	Inborn genetic diseases [RCV002362232]	likely benign	3	179201414	179201414	Human	1	name
155671255	CV1815626	single nucleotide variant	NM_006218.4(PIK3CA):c.715C>T (p.Leu239=)	Inborn genetic diseases [RCV002367573]	likely benign	3	179201442	179201442	Human	1	name
155709201	CV1815703	single nucleotide variant	NM_006218.4(PIK3CA):c.717A>G (p.Leu239=)	Cowden syndrome [RCV003103369]\|Inborn genetic diseases [RCV002378424]	likely benign	3	179201444	179201444	Human	2	name
155741725	CV1816468	single nucleotide variant	NM_006218.4(PIK3CA):c.783C>T (p.Phe261=)	Inborn genetic diseases [RCV002412166]	likely benign	3	179201510	179201510	Human	1	name
155722410	CV1817616	single nucleotide variant	NM_006218.4(PIK3CA):c.873A>G (p.Glu291=)	Inborn genetic diseases [RCV002449749]	likely benign	3	179203603	179203603	Human	1	name
155712251	CV1817940	single nucleotide variant	NM_006218.4(PIK3CA):c.915A>G (p.Pro305=)	Inborn genetic diseases [RCV002378819]	likely benign	3	179203645	179203645	Human	1	name
155727793	CV1818928	single nucleotide variant	NM_006218.4(PIK3CA):c.705C>G (p.Ser235=)	Inborn genetic diseases [RCV002365014]	likely benign	3	179201432	179201432	Human	1	name
155737444	CV1819889	single nucleotide variant	NM_006218.4(PIK3CA):c.774T>C (p.Asp258=)	Inborn genetic diseases [RCV002409680]	likely benign	3	179201501	179201501	Human	1	name
155737769	CV1820157	single nucleotide variant	NM_006218.4(PIK3CA):c.780C>T (p.Tyr260=)	Inborn genetic diseases [RCV002409948]	likely benign	3	179201507	179201507	Human	1	name
155713875	CV1820657	single nucleotide variant	NM_006218.4(PIK3CA):c.853T>C (p.Leu285=)	Cowden syndrome [RCV003099965]\|Inborn genetic diseases [RCV002447819]	likely benign	3	179203583	179203583	Human	2	name
155724174	CV1821313	single nucleotide variant	NM_006218.4(PIK3CA):c.906T>C (p.Phe302=)	Inborn genetic diseases [RCV002449963]	likely benign	3	179203636	179203636	Human	1	name
155691474	CV1821355	single nucleotide variant	NM_006218.4(PIK3CA):c.945A>G (p.Thr315=)	Inborn genetic diseases [RCV002374033]	likely benign	3	179203675	179203675	Human	1	name
155691690	CV1821450	single nucleotide variant	NM_006218.4(PIK3CA):c.948A>G (p.Pro316=)	Inborn genetic diseases [RCV002374075]	likely benign	3	179203678	179203678	Human	1	name
155692444	CV1821596	single nucleotide variant	NM_006218.4(PIK3CA):c.951T>C (p.Tyr317=)	Inborn genetic diseases [RCV002374216]	likely benign	3	179203681	179203681	Human	1	name
155707942	CV1822341	single nucleotide variant	NM_006218.4(PIK3CA):c.699G>A (p.Leu233=)	Cowden syndrome [RCV003588826]\|Inborn genetic diseases [RCV002378210]	likely benign	3	179201426	179201426	Human	2	name
155675065	CV1828890	single nucleotide variant	NM_006218.4(PIK3CA):c.987T>C (p.Val329=)	Inborn genetic diseases [RCV002387389]	likely benign	3	179203717	179203717	Human	1	name
155675482	CV1828957	single nucleotide variant	NM_006218.4(PIK3CA):c.98C>T (p.Thr33Ile)	Inborn genetic diseases [RCV002387456]	uncertain significance	3	179198923	179198923	Human	1	name
155696712	CV1854734	single nucleotide variant	NM_006218.4(PIK3CA):c.303A>G (p.Val101=)	Inborn genetic diseases [RCV002443971]	likely benign	3	179199128	179199128	Human	1	name
155967659	CV1888591	single nucleotide variant	NM_006218.4(PIK3CA):c.762G>A (p.Val254=)	Cowden syndrome [RCV003075019]\|Inborn genetic diseases [RCV003161693]	likely benign	3	179201489	179201489	Human	2	name
156298551	CV1890683	single nucleotide variant	NM_006218.4(PIK3CA):c.768A>G (p.Gly256=)	Cowden syndrome [RCV003087808]	uncertain significance	3	179201495	179201495	Human	1	name
156289687	CV1926445	single nucleotide variant	NM_006218.4(PIK3CA):c.747G>A (p.Lys249=)	Cowden syndrome [RCV002628761]\|PIK3CA-related disorder [RCV004540586]	likely benign	3	179201474	179201474	Human	1	name , alternate_id
156394091	CV2002670	microsatellite	NM_006218.4(PIK3CA):c.2187+11_2187+12del	Cowden syndrome [RCV002681061]	likely benign	3	179221166	179221167	Human		name
156320134	CV2170286	single nucleotide variant	NM_006218.4(PIK3CA):c.894A>G (p.Pro298=)	Cowden syndrome [RCV003029105]	likely benign	3	179203624	179203624	Human	1	name
10768245	CV221370	single nucleotide variant	NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)	Cowden syndrome 5 [RCV003316147]\|Cowden syndrome [RCV000206083]\|Inborn genetic diseases [RCV002453746]\|PIK3CA-related disorder [RCV004530242]\|not provided [RCV001711361]\|not specified [RCV001579917]	benign\|likely benign	3	179199700	179199700	Human	3	name , alternate_id
329366835	CV2426828	single nucleotide variant	NM_006218.4(PIK3CA):c.714A>G (p.Gln238=)	Inborn genetic diseases [RCV003182888]\|not provided [RCV003435988]	likely benign	3	179201441	179201441	Human	1	name
329366754	CV2426833	single nucleotide variant	NM_006218.4(PIK3CA):c.723C>T (p.Leu241=)	Inborn genetic diseases [RCV003182893]	likely benign	3	179201450	179201450	Human	1	name
11525582	CV245295	single nucleotide variant	NM_006218.4(PIK3CA):c.705C>A (p.Ser235=)	Cowden syndrome [RCV001501285]	likely benign	3	179201432	179201432	Human	1	name
11549932	CV251011	single nucleotide variant	NM_006218.4(PIK3CA):c.318C>A (p.Gly106=)	Cowden syndrome 5 [RCV003316432]\|Cowden syndrome [RCV000465889]\|Inborn genetic diseases [RCV002321928]\|not provided [RCV001579870]\|not specified [RCV000251063]	benign\|likely benign	3	179199143	179199143	Human	3	name
329848715	CV2523463	single nucleotide variant	NM_006218.4(PIK3CA):c.29T>C (p.Leu10Pro)	not provided [RCV003225477]	uncertain significance	3	179198854	179198854	Human		name
401754277	CV2717324	single nucleotide variant	NM_006218.4(PIK3CA):c.702A>G (p.Leu234=)	Inborn genetic diseases [RCV003296475]	likely benign	3	179201429	179201429	Human	1	name
401719445	CV2729216	single nucleotide variant	NM_006218.4(PIK3CA):c.52C>T (p.Pro18Ser)	Inborn genetic diseases [RCV003311394]	uncertain significance	3	179198877	179198877	Human	1	name
401899437	CV2790416	single nucleotide variant	NM_006218.4(PIK3CA):c.339C>T (p.Leu113=)	Inborn genetic diseases [RCV003377600]	likely benign	3	179199164	179199164	Human	1	name
401899440	CV2790419	single nucleotide variant	NM_006218.4(PIK3CA):c.402A>G (p.Pro134=)	Inborn genetic diseases [RCV003377603]	likely benign	3	179199739	179199739	Human	1	name
405198769	CV2891886	single nucleotide variant	NM_006218.4(PIK3CA):c.61C>A (p.Leu21Ile)	Cowden syndrome [RCV003590947]	uncertain significance	3	179198886	179198886	Human	1	name
405185812	CV2907845	single nucleotide variant	NM_006218.4(PIK3CA):c.753T>A (p.Ile251=)	Cowden syndrome [RCV003589355]	likely benign	3	179201480	179201480	Human	1	name
405137673	CV3013920	single nucleotide variant	NM_006218.4(PIK3CA):c.676A>C (p.Arg226=)	Cowden syndrome [RCV003754806]	likely benign	3	179201403	179201403	Human	1	name
405125567	CV3064621	single nucleotide variant	NM_006218.4(PIK3CA):c.618G>A (p.Lys206=)	Cowden syndrome [RCV003753603]\|Inborn genetic diseases [RCV004374172]	likely benign	3	179201345	179201345	Human	2	name
405128003	CV3077625	single nucleotide variant	NM_006218.4(PIK3CA):c.621T>C (p.Tyr207=)	Cowden syndrome [RCV003753861]\|Inborn genetic diseases [RCV004953511]	likely benign	3	179201348	179201348	Human	2	name
405722287	CV3381093	single nucleotide variant	NM_006218.4(PIK3CA):c.360T>C (p.Ala120=)	Inborn genetic diseases [RCV004524014]	likely benign	3	179199697	179199697	Human	1	name
405722294	CV3381094	single nucleotide variant	NM_006218.4(PIK3CA):c.375G>A (p.Val125=)	Inborn genetic diseases [RCV004524015]	likely benign	3	179199712	179199712	Human	1	name
405722302	CV3381095	single nucleotide variant	NM_006218.4(PIK3CA):c.408A>G (p.Val136=)	Inborn genetic diseases [RCV004524016]	likely benign	3	179199745	179199745	Human	1	name
405722326	CV3381098	single nucleotide variant	NM_006218.4(PIK3CA):c.666T>A (p.Ala222=)	Inborn genetic diseases [RCV004524019]	likely benign	3	179201393	179201393	Human	1	name
405722332	CV3381099	single nucleotide variant	NM_006218.4(PIK3CA):c.666T>G (p.Ala222=)	Inborn genetic diseases [RCV004524020]	likely benign	3	179201393	179201393	Human	1	name
405722359	CV3381102	single nucleotide variant	NM_006218.4(PIK3CA):c.69A>C (p.Glu23Asp)	Inborn genetic diseases [RCV004524023]	uncertain significance	3	179198894	179198894	Human	1	name
405722365	CV3381103	single nucleotide variant	NM_006218.4(PIK3CA):c.700C>T (p.Leu234=)	Inborn genetic diseases [RCV004524024]	likely benign	3	179201427	179201427	Human	1	name
405722376	CV3381104	single nucleotide variant	NM_006218.4(PIK3CA):c.807G>A (p.Gln269=)	Inborn genetic diseases [RCV004524025]	likely benign	3	179201534	179201534	Human	1	name
405722395	CV3381107	single nucleotide variant	NM_006218.4(PIK3CA):c.840G>A (p.Gly280=)	Inborn genetic diseases [RCV004524028]	likely benign	3	179203570	179203570	Human	1	name
407511984	CV3463567	single nucleotide variant	NM_006218.4(PIK3CA):c.64G>A (p.Val22Ile)	Inborn genetic diseases [RCV004648232]	uncertain significance	3	179198889	179198889	Human	1	name
407512006	CV3463583	single nucleotide variant	NM_006218.4(PIK3CA):c.651A>G (p.Pro217=)	Inborn genetic diseases [RCV004648241]	likely benign	3	179201378	179201378	Human	1	name
407530753	CV3463595	single nucleotide variant	NM_006218.4(PIK3CA):c.993T>C (p.Asn331=)	Inborn genetic diseases [RCV004657219]	likely benign	3	179203723	179203723	Human	1	name
408392498	CV3519480	duplication	NM_006218.4(PIK3CA):c.220dup (p.Thr74fs)	not provided [RCV004763776]	uncertain significance	3	179199044	179199045	Human		name
597716066	CV3579711	single nucleotide variant	NM_006218.4(PIK3CA):c.486A>G (p.Arg162=)	Inborn genetic diseases [RCV004959802]	likely benign	3	179199823	179199823	Human	1	name
597716108	CV3579716	single nucleotide variant	NM_006218.4(PIK3CA):c.843G>A (p.Arg281=)	Inborn genetic diseases [RCV004959807]	likely benign	3	179203573	179203573	Human	1	name
597716183	CV3579727	single nucleotide variant	NM_006218.4(PIK3CA):c.600A>G (p.Pro200=)	Inborn genetic diseases [RCV004959817]	likely benign	3	179201327	179201327	Human	1	name
597716244	CV3579736	single nucleotide variant	NM_006218.4(PIK3CA):c.546T>C (p.Tyr182=)	Inborn genetic diseases [RCV004959825]	likely benign	3	179199883	179199883	Human	1	name
597716295	CV3579744	single nucleotide variant	NM_006218.4(PIK3CA):c.798T>C (p.Pro266=)	Inborn genetic diseases [RCV004959832]	likely benign	3	179201525	179201525	Human	1	name
597716453	CV3579771	single nucleotide variant	NM_006218.4(PIK3CA):c.909A>G (p.Thr303=)	Inborn genetic diseases [RCV004959856]	likely benign	3	179203639	179203639	Human	1	name
597716465	CV3579773	single nucleotide variant	NM_006218.4(PIK3CA):c.894A>C (p.Pro298=)	Inborn genetic diseases [RCV004959858]	likely benign	3	179203624	179203624	Human	1	name
597871669	CV3750053	single nucleotide variant	NM_006218.4(PIK3CA):c.777A>G (p.Glu259=)	Cowden syndrome [RCV005068734]	likely benign	3	179201504	179201504	Human	1	name
597894824	CV3833595	single nucleotide variant	NM_006218.4(PIK3CA):c.819A>C (p.Ile273=)	Cowden syndrome [RCV005180287]	likely benign	3	179203549	179203549	Human	1	name
12884797	CV393600	single nucleotide variant	NM_006218.4(PIK3CA):c.636C>T (p.Asn212=)	Cowden syndrome [RCV000464139]\|Inborn genetic diseases [RCV003298512]	likely benign	3	179201363	179201363	Human	2	name
598272558	CV4006629	single nucleotide variant	NM_006218.4(PIK3CA):c.498C>T (p.Val166=)	Inborn genetic diseases [RCV005389410]	likely benign	3	179199835	179199835	Human	1	name
598272562	CV4006630	single nucleotide variant	NM_006218.4(PIK3CA):c.561A>G (p.Lys187=)	Inborn genetic diseases [RCV005389411]	likely benign	3	179199898	179199898	Human	1	name
598272572	CV4006634	single nucleotide variant	NM_006218.4(PIK3CA):c.468C>T (p.Leu156=)	Inborn genetic diseases [RCV005389415]	likely benign	3	179199805	179199805	Human	1	name
598272590	CV4006642	single nucleotide variant	NM_006218.4(PIK3CA):c.903T>C (p.Cys301=)	Inborn genetic diseases [RCV005389422]	likely benign	3	179203633	179203633	Human	1	name
13491658	CV452157	single nucleotide variant	NM_006218.4(PIK3CA):c.529T>C (p.Leu177=)	Cowden syndrome [RCV000534389]\|Inborn genetic diseases [RCV002350174]	likely benign	3	179199866	179199866	Human	2	name
13468624	CV452165	single nucleotide variant	NM_006218.4(PIK3CA):c.849C>T (p.Pro283=)	Cowden syndrome [RCV000544626]	likely benign	3	179203579	179203579	Human	1	name
14741329	CV631047	single nucleotide variant	NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)	Cowden syndrome [RCV000805736]	uncertain significance	3	179198865	179198865	Human	1	name
14719433	CV631048	single nucleotide variant	NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)	Cowden syndrome [RCV000812601]	likely benign\|uncertain significance	3	179199820	179199820	Human	1	name
15159300	CV686365	single nucleotide variant	NM_006218.4(PIK3CA):c.435C>T (p.Asn145=)	Cowden syndrome [RCV000868798]\|Inborn genetic diseases [RCV003169152]	likely benign	3	179199772	179199772	Human	2	name
15180677	CV697937	single nucleotide variant	NM_006218.4(PIK3CA):c.414C>T (p.Asp138=)	Cowden syndrome [RCV000951802]\|Inborn genetic diseases [RCV002327185]	likely benign	3	179199751	179199751	Human	2	name
15190757	CV697938	single nucleotide variant	NM_006218.4(PIK3CA):c.939A>G (p.Thr313=)	Cowden syndrome [RCV001499222]\|Inborn genetic diseases [RCV002372660]	likely benign	3	179203669	179203669	Human	2	name
15149118	CV748113	single nucleotide variant	NM_006218.4(PIK3CA):c.603T>C (p.Asn201=)	not provided [RCV000923225]	likely benign	3	179201330	179201330	Human		name
15130206	CV763736	single nucleotide variant	NM_006218.4(PIK3CA):c.522A>T (p.Ser174=)	Cowden syndrome [RCV001461770]\|Inborn genetic diseases [RCV002336983]	likely benign	3	179199859	179199859	Human	2	name
15118201	CV781615	single nucleotide variant	NM_006218.4(PIK3CA):c.321C>T (p.Asn107=)	Cowden syndrome [RCV001489321]	likely benign	3	179199146	179199146	Human	1	name
21068687	CV795364	single nucleotide variant	NM_006218.4(PIK3CA):c.519T>C (p.Ser173=)	Inborn genetic diseases [RCV004649399]\|not provided [RCV000998160]	likely benign\|uncertain significance	3	179199856	179199856	Human	1	name
26887916	CV827718	single nucleotide variant	NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu)	Cowden syndrome [RCV001066888]\|Inborn genetic diseases [RCV002374978]	uncertain significance	3	179198916	179198916	Human	2	name
126754490	CV1004604	single nucleotide variant	NM_006218.4(PIK3CA):c.2475A>G (p.Gln825=)	Cowden syndrome [RCV001327521]\|Inborn genetic diseases [RCV002456463]	likely benign\|uncertain significance	3	179226020	179226020	Human	2	name
126751333	CV1004605	single nucleotide variant	NM_006218.4(PIK3CA):c.2595C>T (p.Gly865=)	Cowden syndrome [RCV001326899]	likely benign\|uncertain significance	3	179229371	179229371	Human	1	name
126768898	CV1025130	single nucleotide variant	NM_006218.4(PIK3CA):c.2667A>T (p.Ile889=)	Cowden syndrome [RCV001343621]	uncertain significance	3	179230004	179230004	Human	1	name
127257293	CV1070556	single nucleotide variant	NM_006218.4(PIK3CA):c.2103C>T (p.His701=)	Cowden syndrome [RCV001419235]\|Inborn genetic diseases [RCV002420942]	likely benign	3	179221073	179221073	Human	2	name
127240749	CV1092249	single nucleotide variant	NM_006218.4(PIK3CA):c.1071A>G (p.Arg357=)	Cowden syndrome [RCV001434284]	likely benign	3	179204514	179204514	Human	1	name
127249908	CV1092251	single nucleotide variant	NM_006218.4(PIK3CA):c.2421A>G (p.Leu807=)	Cowden syndrome [RCV001425257]\|Inborn genetic diseases [RCV003298720]	likely benign	3	179225966	179225966	Human	2	name
127241894	CV1092252	single nucleotide variant	NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=)	Cowden syndrome [RCV001434510]\|Inborn genetic diseases [RCV002432208]\|not provided [RCV003433164]	likely benign	3	179229284	179229284	Human	2	name
127295164	CV1113784	single nucleotide variant	NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=)	Cowden syndrome [RCV001452427]\|Inborn genetic diseases [RCV002405065]	likely benign	3	179218272	179218272	Human	2	name
127333238	CV1113785	single nucleotide variant	NM_006218.4(PIK3CA):c.1653A>G (p.Leu551=)	Cowden syndrome [RCV001472749]\|Inborn genetic diseases [RCV004037131]	likely benign	3	179218323	179218323	Human	2	name
127330929	CV1113787	single nucleotide variant	NM_006218.4(PIK3CA):c.1776A>C (p.Pro592=)	Cowden syndrome [RCV001471242]	likely benign	3	179219600	179219600	Human	1	name
127300896	CV1113789	single nucleotide variant	NM_006218.4(PIK3CA):c.2028C>T (p.His676=)	Cowden syndrome [RCV001461217]\|Inborn genetic diseases [RCV002421047]	likely benign	3	179220998	179220998	Human	2	name
127312433	CV1113790	single nucleotide variant	NM_006218.4(PIK3CA):c.2268C>T (p.Asn756=)	Cowden syndrome [RCV001464397]	likely benign	3	179224161	179224161	Human	1	name
127315900	CV1113791	single nucleotide variant	NM_006218.4(PIK3CA):c.2331G>A (p.Arg777=)	Cowden syndrome [RCV001465354]\|Inborn genetic diseases [RCV002456793]	likely benign	3	179224736	179224736	Human	2	name
127309736	CV1113792	single nucleotide variant	NM_006218.4(PIK3CA):c.2550G>A (p.Val850=)	Cowden syndrome [RCV001463701]	likely benign	3	179229326	179229326	Human	1	name
127303439	CV1113793	single nucleotide variant	NM_006218.4(PIK3CA):c.2629C>T (p.Leu877=)	Cowden syndrome [RCV001454748]\|Inborn genetic diseases [RCV002432262]	likely benign	3	179229405	179229405	Human	2	name
127303318	CV1113794	single nucleotide variant	NM_006218.4(PIK3CA):c.2964T>C (p.Tyr988=)	Cowden syndrome [RCV001461903]\|Inborn genetic diseases [RCV002439095]	likely benign	3	179234121	179234121	Human	2	name
127294844	CV1134673	single nucleotide variant	NM_006218.4(PIK3CA):c.2523C>T (p.Ile841=)	Cowden syndrome [RCV001497088]\|Inborn genetic diseases [RCV002432398]	likely benign	3	179229299	179229299	Human	2	name
127334779	CV1134674	single nucleotide variant	NM_006218.4(PIK3CA):c.2568T>A (p.Thr856=)	Cowden syndrome [RCV001491103]\|Inborn genetic diseases [RCV002432379]	likely benign	3	179229344	179229344	Human	2	name
127320749	CV1134675	single nucleotide variant	NM_006218.4(PIK3CA):c.2607A>T (p.Ala869=)	Cowden syndrome [RCV001504513]\|Inborn genetic diseases [RCV003161025]	likely benign	3	179229383	179229383	Human	2	name
127287434	CV1134676	single nucleotide variant	NM_006218.4(PIK3CA):c.2946G>A (p.Glu982=)	Cowden syndrome [RCV001494920]	likely benign	3	179234103	179234103	Human	1	name
127321587	CV1154359	single nucleotide variant	NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=)	Cowden syndrome [RCV001523118]\|Inborn genetic diseases [RCV002439212]\|not provided [RCV003434307]	benign\|likely benign	3	179204568	179204568	Human	2	name
150429074	CV1186555	single nucleotide variant	NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV005253861]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV005429355]\|PIK3CA related overgrowth syndrome [RCV002271660]\|PIK3CA ... (more) 0;'>PIK3CA-related disorder [RCV004528517]\|not provided [RCV001563115]	pathogenic\|likely pathogenic	3	179199102	179199102	Human	1	name , alternate_id
151890566	CV1350580	single nucleotide variant	NM_006218.4(PIK3CA):c.1234C>A (p.Arg412=)	Cowden syndrome [RCV002038849]	likely benign\|uncertain significance	3	179209683	179209683	Human	1	name
151709732	CV1361008	single nucleotide variant	NM_006218.4(PIK3CA):c.103G>C (p.Glu35Gln)	Cowden syndrome [RCV001889112]\|Inborn genetic diseases [RCV004041377]	uncertain significance	3	179198928	179198928	Human	2	name
151843684	CV1363331	single nucleotide variant	NM_006218.4(PIK3CA):c.1644A>G (p.Lys548=)	Cowden syndrome [RCV002032126]\|Inborn genetic diseases [RCV002391144]	likely benign	3	179218314	179218314	Human	2	name
151800149	CV1373073	single nucleotide variant	NM_006218.4(PIK3CA):c.1122A>G (p.Gln374=)	Cowden syndrome [RCV001932231]	likely benign\|uncertain significance	3	179204565	179204565	Human	1	name
151754115	CV1407377	single nucleotide variant	NM_006218.4(PIK3CA):c.181C>A (p.Leu61Ile)	Cowden syndrome [RCV002023689]	uncertain significance	3	179199006	179199006	Human	1	name
151819715	CV1416026	single nucleotide variant	NM_006218.4(PIK3CA):c.1857G>A (p.Leu619=)	Cowden syndrome [RCV001919445]\|Inborn genetic diseases [RCV004955864]	likely benign\|uncertain significance	3	179219681	179219681	Human	2	name
151745386	CV1433045	single nucleotide variant	NM_006218.4(PIK3CA):c.2409T>C (p.Asn803=)	Cowden syndrome [RCV001968582]\|Inborn genetic diseases [RCV003170199]	likely benign	3	179224814	179224814	Human	2	name
151804955	CV1444268	single nucleotide variant	NM_006218.4(PIK3CA):c.2445A>G (p.Gln815=)	Cowden syndrome [RCV001918060]\|Inborn genetic diseases [RCV002458762]\|PIK3CA-related disorder [RCV004538598]	likely benign\|uncertain significance	3	179225990	179225990	Human	2	name , alternate_id
151752330	CV1479788	single nucleotide variant	NM_006218.4(PIK3CA):c.189A>C (p.Gln63His)	Cowden syndrome [RCV001927643]\|Inborn genetic diseases [RCV003167085]	uncertain significance	3	179199014	179199014	Human	2	name
151727759	CV1488551	single nucleotide variant	NM_006218.4(PIK3CA):c.2913C>T (p.Cys971=)	Cowden syndrome [RCV001966796]\|Inborn genetic diseases [RCV003303534]	likely benign	3	179230353	179230353	Human	2	name
152110741	CV1519570	single nucleotide variant	NM_006218.4(PIK3CA):c.1476T>A (p.Ile492=)	Cowden syndrome [RCV002153020]\|Inborn genetic diseases [RCV002391277]	likely benign	3	179210502	179210502	Human	2	name
152092050	CV1528930	single nucleotide variant	NM_006218.4(PIK3CA):c.2283A>G (p.Leu761=)	Cowden syndrome [RCV002094320]\|Inborn genetic diseases [RCV004046462]	likely benign	3	179224176	179224176	Human	2	name
152117409	CV1541151	single nucleotide variant	NM_006218.4(PIK3CA):c.1098C>A (p.Pro366=)	Cowden syndrome [RCV002197582]	likely benign	3	179204541	179204541	Human	1	name
152058494	CV1543752	single nucleotide variant	NM_006218.4(PIK3CA):c.2517G>A (p.Leu839=)	Cowden syndrome [RCV002128064]\|Inborn genetic diseases [RCV002427691]	likely benign	3	179229293	179229293	Human	2	name
152133249	CV1544851	single nucleotide variant	NM_006218.4(PIK3CA):c.2958G>A (p.Lys986=)	Cowden syndrome [RCV002177081]\|Inborn genetic diseases [RCV002441253]	likely benign	3	179234115	179234115	Human	2	name
152080594	CV1580047	single nucleotide variant	NM_006218.4(PIK3CA):c.2427A>G (p.Gln809=)	Cowden syndrome [RCV002076313]	likely benign	3	179225972	179225972	Human	1	name
152061957	CV1594422	single nucleotide variant	NM_006218.4(PIK3CA):c.1341A>C (p.Pro447=)	Cowden syndrome [RCV002110217]	likely benign	3	179210275	179210275	Human	1	name
152164734	CV1595546	single nucleotide variant	NM_006218.4(PIK3CA):c.2673T>C (p.Asp891=)	Cowden syndrome [RCV002204100]\|Inborn genetic diseases [RCV002427723]	likely benign	3	179230010	179230010	Human	2	name
152159771	CV1605847	single nucleotide variant	NM_006218.4(PIK3CA):c.2289C>T (p.Asn763=)	Cowden syndrome [RCV002103572]	likely benign	3	179224182	179224182	Human	1	name
152075468	CV1616706	single nucleotide variant	NM_006218.4(PIK3CA):c.1743C>G (p.Ala581=)	Cowden syndrome [RCV002210533]\|Inborn genetic diseases [RCV004047164]	likely benign	3	179219274	179219274	Human	2	name
152057824	CV1619141	single nucleotide variant	NM_006218.4(PIK3CA):c.2262T>A (p.Pro754=)	Cowden syndrome [RCV002127992]\|Inborn genetic diseases [RCV002443228]	likely benign	3	179224155	179224155	Human	2	name
152083340	CV1623826	single nucleotide variant	NM_006218.4(PIK3CA):c.2724C>T (p.Thr908=)	Cowden syndrome [RCV002149597]\|Inborn genetic diseases [RCV002454469]	likely benign	3	179230061	179230061	Human	2	name
152093512	CV1648675	single nucleotide variant	NM_006218.4(PIK3CA):c.1308A>G (p.Leu436=)	Cowden syndrome [RCV002078029]	likely benign	3	179210242	179210242	Human	1	name
152144935	CV1651762	single nucleotide variant	NM_006218.4(PIK3CA):c.2242C>T (p.Leu748=)	Cowden syndrome [RCV002138672]	likely benign	3	179224135	179224135	Human	1	name
152174751	CV1663430	single nucleotide variant	NM_006218.4(PIK3CA):c.1794T>C (p.Ala598=)	Cowden syndrome [RCV002144540]	likely benign	3	179219618	179219618	Human	1	name
155689322	CV1784828	single nucleotide variant	NM_006218.4(PIK3CA):c.1128A>G (p.Val376=)	Inborn genetic diseases [RCV002319863]	likely benign	3	179204571	179204571	Human	1	name
155725145	CV1790904	single nucleotide variant	NM_006218.4(PIK3CA):c.1167T>C (p.Tyr389=)	Inborn genetic diseases [RCV002327782]	likely benign	3	179209616	179209616	Human	1	name
155668014	CV1799828	single nucleotide variant	NM_006218.4(PIK3CA):c.1200T>G (p.Ala400=)	Inborn genetic diseases [RCV002349582]	likely benign	3	179209649	179209649	Human	1	name
155743950	CV1803247	single nucleotide variant	NM_006218.4(PIK3CA):c.1017T>C (p.Leu339=)	Inborn genetic diseases [RCV002345123]	likely benign	3	179203747	179203747	Human	1	name
155746049	CV1803393	single nucleotide variant	NM_006218.4(PIK3CA):c.1017T>G (p.Leu339=)	Inborn genetic diseases [RCV002347340]	likely benign	3	179203747	179203747	Human	1	name
155735617	CV1809928	single nucleotide variant	NM_006218.4(PIK3CA):c.1197T>C (p.Ala399=)	Inborn genetic diseases [RCV002341021]	likely benign	3	179209646	179209646	Human	1	name
155680237	CV1815902	single nucleotide variant	NM_006218.4(PIK3CA):c.1239G>A (p.Lys413=)	Inborn genetic diseases [RCV002370898]	likely benign	3	179209688	179209688	Human	1	name
155718699	CV1819419	single nucleotide variant	NM_006218.4(PIK3CA):c.1242T>A (p.Gly414=)	Inborn genetic diseases [RCV002380504]	likely benign	3	179209691	179209691	Human	1	name
155714463	CV1820804	single nucleotide variant	NM_006218.4(PIK3CA):c.1264T>C (p.Leu422=)	Inborn genetic diseases [RCV002447919]	likely benign	3	179210198	179210198	Human	1	name
155678066	CV1826303	single nucleotide variant	NM_006218.4(PIK3CA):c.1350T>C (p.His450=)	Inborn genetic diseases [RCV002387949]	likely benign	3	179210284	179210284	Human	1	name
155690963	CV1826932	single nucleotide variant	NM_006218.4(PIK3CA):c.1431T>C (p.Phe477=)	Inborn genetic diseases [RCV002392082]	likely benign	3	179210457	179210457	Human	1	name
155691217	CV1826991	single nucleotide variant	NM_006218.4(PIK3CA):c.1434C>T (p.Asp478=)	Inborn genetic diseases [RCV002392141]	likely benign	3	179210460	179210460	Human	1	name
155721378	CV1827509	single nucleotide variant	NM_006218.4(PIK3CA):c.1581C>T (p.Asp527=)	Inborn genetic diseases [RCV002405814]	likely benign	3	179218251	179218251	Human	1	name
155717739	CV1827617	single nucleotide variant	NM_006218.4(PIK3CA):c.1587A>G (p.Glu529=)	Inborn genetic diseases [RCV002398334]	likely benign	3	179218257	179218257	Human	1	name
155718373	CV1827756	single nucleotide variant	NM_006218.4(PIK3CA):c.1593C>A (p.Leu531=)	Inborn genetic diseases [RCV002398473]	likely benign	3	179218263	179218263	Human	1	name
155718886	CV1827849	single nucleotide variant	NM_006218.4(PIK3CA):c.1599A>C (p.Ala533=)	Inborn genetic diseases [RCV002398567]	likely benign	3	179218269	179218269	Human	1	name
155722637	CV1828310	single nucleotide variant	NM_006218.4(PIK3CA):c.1677A>T (p.Val559=)	Inborn genetic diseases [RCV002405956]	likely benign	3	179219208	179219208	Human	1	name
155701339	CV1828638	single nucleotide variant	NM_006218.4(PIK3CA):c.1752T>C (p.Tyr584=)	Cowden syndrome [RCV003097212]\|Inborn genetic diseases [RCV002401587]	likely benign	3	179219576	179219576	Human	2	name
155671176	CV1829148	single nucleotide variant	NM_006218.4(PIK3CA):c.1327T>C (p.Leu443=)	Inborn genetic diseases [RCV002385826]	likely benign	3	179210261	179210261	Human	1	name
155682460	CV1829843	single nucleotide variant	NM_006218.4(PIK3CA):c.1410T>G (p.Thr470=)	Inborn genetic diseases [RCV002389508]	likely benign	3	179210436	179210436	Human	1	name
155683883	CV1830304	single nucleotide variant	NM_006218.4(PIK3CA):c.1491T>C (p.Asn497=)	Inborn genetic diseases [RCV002389715]	likely benign	3	179210517	179210517	Human	1	name
155719384	CV1830562	single nucleotide variant	NM_006218.4(PIK3CA):c.1566A>G (p.Glu522=)	Inborn genetic diseases [RCV002405518]	likely benign	3	179218236	179218236	Human	1	name
155693801	CV1830728	single nucleotide variant	NM_006218.4(PIK3CA):c.1572G>A (p.Arg524=)	Inborn genetic diseases [RCV002392617]	likely benign	3	179218242	179218242	Human	1	name
155693872	CV1830767	single nucleotide variant	NM_006218.4(PIK3CA):c.1575A>G (p.Glu525=)	Inborn genetic diseases [RCV002392627]	likely benign	3	179218245	179218245	Human	1	name
155721064	CV1830851	single nucleotide variant	NM_006218.4(PIK3CA):c.1047A>C (p.Arg349=)	Inborn genetic diseases [RCV002405767]	likely benign	3	179203777	179203777	Human	1	name
155703236	CV1830904	single nucleotide variant	NM_006218.4(PIK3CA):c.1050C>T (p.Asp350=)	Inborn genetic diseases [RCV002394920]	likely benign	3	179203780	179203780	Human	1	name
155724056	CV1831629	single nucleotide variant	NM_006218.4(PIK3CA):c.1734T>C (p.Asp578=)	Cowden syndrome [RCV003753240]\|Inborn genetic diseases [RCV002399229]	likely benign	3	179219265	179219265	Human	2	name
155737921	CV1831778	single nucleotide variant	NM_006218.4(PIK3CA):c.1806G>C (p.Leu602=)	Inborn genetic diseases [RCV002410075]	likely benign	3	179219630	179219630	Human	1	name
155738396	CV1832032	single nucleotide variant	NM_006218.4(PIK3CA):c.181C>T (p.Leu61Phe)	Inborn genetic diseases [RCV002410330]	uncertain significance	3	179199006	179199006	Human	1	name
155738481	CV1832059	single nucleotide variant	NM_006218.4(PIK3CA):c.1821A>G (p.Pro607=)	Inborn genetic diseases [RCV002410357]	likely benign	3	179219645	179219645	Human	1	name
155669417	CV1832156	single nucleotide variant	NM_006218.4(PIK3CA):c.1311A>G (p.Val437=)	Inborn genetic diseases [RCV002385452]	likely benign	3	179210245	179210245	Human	1	name
155671101	CV1832505	single nucleotide variant	NM_006218.4(PIK3CA):c.1326T>C (p.Ala442=)	Inborn genetic diseases [RCV002385803]	likely benign	3	179210260	179210260	Human	1	name
155711807	CV1833236	single nucleotide variant	NM_006218.4(PIK3CA):c.1470A>G (p.Ser490=)	Inborn genetic diseases [RCV002396916]	likely benign	3	179210496	179210496	Human	1	name
155721102	CV1834530	single nucleotide variant	NM_006218.4(PIK3CA):c.1710G>T (p.Leu570=)	Inborn genetic diseases [RCV002398897]	likely benign	3	179219241	179219241	Human	1	name
155731952	CV1835021	single nucleotide variant	NM_006218.4(PIK3CA):c.179A>C (p.Gln60Pro)	Inborn genetic diseases [RCV002407837]	uncertain significance	3	179199004	179199004	Human	1	name
155746573	CV1835215	single nucleotide variant	NM_006218.4(PIK3CA):c.1878C>T (p.Asp626=)	Inborn genetic diseases [RCV002415236]	likely benign	3	179219702	179219702	Human	1	name
155732570	CV1835398	single nucleotide variant	NM_006218.4(PIK3CA):c.1887T>C (p.Ser629=)	Inborn genetic diseases [RCV002407958]	likely benign	3	179219711	179219711	Human	1	name
155719629	CV1835655	single nucleotide variant	NM_006218.4(PIK3CA):c.1296C>T (p.Tyr432=)	Inborn genetic diseases [RCV002380656]	likely benign	3	179210230	179210230	Human	1	name
155721061	CV1835874	single nucleotide variant	NM_006218.4(PIK3CA):c.1302C>T (p.Asp434=)	Inborn genetic diseases [RCV002380876]	likely benign	3	179210236	179210236	Human	1	name
155721852	CV1835991	single nucleotide variant	NM_006218.4(PIK3CA):c.1308A>C (p.Leu436=)	Inborn genetic diseases [RCV002380994]	likely benign	3	179210242	179210242	Human	1	name
155700281	CV1836710	single nucleotide variant	NM_006218.4(PIK3CA):c.1449G>A (p.Val483=)	Inborn genetic diseases [RCV002394523]	likely benign	3	179210475	179210475	Human	1	name
155701331	CV1836887	single nucleotide variant	NM_006218.4(PIK3CA):c.1455G>A (p.Lys485=)	Inborn genetic diseases [RCV002394700]	likely benign	3	179210481	179210481	Human	1	name
155693414	CV1837079	single nucleotide variant	NM_006218.4(PIK3CA):c.1527C>T (p.Ser509=)	Inborn genetic diseases [RCV002392542]	likely benign	3	179210553	179210553	Human	1	name
155730628	CV1837121	single nucleotide variant	NM_006218.4(PIK3CA):c.152A>G (p.Lys51Arg)	Inborn genetic diseases [RCV002400840]	uncertain significance	3	179198977	179198977	Human	1	name
155706588	CV1837202	single nucleotide variant	NM_006218.4(PIK3CA):c.1533A>G (p.Ala511=)	Inborn genetic diseases [RCV002403000]	likely benign	3	179210559	179210559	Human	1	name
155702464	CV1837620	single nucleotide variant	NM_006218.4(PIK3CA):c.1611A>G (p.Arg537=)	Inborn genetic diseases [RCV002394834]	likely benign	3	179218281	179218281	Human	1	name
155702754	CV1837752	single nucleotide variant	NM_006218.4(PIK3CA):c.1617T>A (p.Pro539=)	Inborn genetic diseases [RCV002394868]	likely benign	3	179218287	179218287	Human	1	name
155743144	CV1839282	single nucleotide variant	NM_006218.4(PIK3CA):c.1834C>A (p.Arg612=)	Inborn genetic diseases [RCV002412701]	likely benign	3	179219658	179219658	Human	1	name
155682312	CV1839776	single nucleotide variant	NM_006218.4(PIK3CA):c.1974G>A (p.Leu658=)	Inborn genetic diseases [RCV002423552]	likely benign	3	179220011	179220011	Human	1	name
155678226	CV1840181	single nucleotide variant	NM_006218.4(PIK3CA):c.2070C>A (p.Ser690=)	Inborn genetic diseases [RCV002422133]	likely benign	3	179221040	179221040	Human	1	name
155678584	CV1840310	single nucleotide variant	NM_006218.4(PIK3CA):c.2079T>C (p.Arg693=)	Inborn genetic diseases [RCV002422262]	likely benign	3	179221049	179221049	Human	1	name
155705302	CV1841013	single nucleotide variant	NM_006218.4(PIK3CA):c.2271T>C (p.Pro757=)	Inborn genetic diseases [RCV002445947]	likely benign	3	179224164	179224164	Human	1	name
155705784	CV1841144	single nucleotide variant	NM_006218.4(PIK3CA):c.2280A>G (p.Gln760=)	Inborn genetic diseases [RCV002446078]	likely benign	3	179224173	179224173	Human	1	name
155723163	CV1842047	single nucleotide variant	NM_006218.4(PIK3CA):c.2515C>T (p.Leu839=)	Inborn genetic diseases [RCV002432985]	likely benign	3	179229291	179229291	Human	1	name
155671723	CV1842172	single nucleotide variant	NM_006218.4(PIK3CA):c.2619C>T (p.Asn873=)	Inborn genetic diseases [RCV002437216]	likely benign	3	179229395	179229395	Human	1	name
155693702	CV1842248	single nucleotide variant	NM_006218.4(PIK3CA):c.2622C>T (p.Ser874=)	Inborn genetic diseases [RCV002426412]	likely benign	3	179229398	179229398	Human	1	name
155670061	CV1842496	single nucleotide variant	NM_006218.4(PIK3CA):c.2643C>G (p.Leu881=)	Inborn genetic diseases [RCV002453000]	likely benign	3	179229419	179229419	Human	1	name
155739298	CV1842958	single nucleotide variant	NM_006218.4(PIK3CA):c.1915C>T (p.Leu639=)	Inborn genetic diseases [RCV002410607]	likely benign	3	179219952	179219952	Human	1	name
155675899	CV1843326	single nucleotide variant	NM_006218.4(PIK3CA):c.195A>T (p.Glu65Asp)	Inborn genetic diseases [RCV002421690]	uncertain significance	3	179199020	179199020	Human	1	name
155718799	CV1844051	single nucleotide variant	NM_006218.4(PIK3CA):c.2148T>C (p.Thr716=)	Inborn genetic diseases [RCV002432402]	likely benign	3	179221118	179221118	Human	1	name
155700336	CV1844435	single nucleotide variant	NM_006218.4(PIK3CA):c.1089A>T (p.Gly363=)	Inborn genetic diseases [RCV002428426]	likely benign	3	179204532	179204532	Human	1	name
155694778	CV1844477	single nucleotide variant	NM_006218.4(PIK3CA):c.2250C>G (p.Gly750=)	Inborn genetic diseases [RCV002443525]	likely benign	3	179224143	179224143	Human	1	name
155716852	CV1844780	single nucleotide variant	NM_006218.4(PIK3CA):c.2352G>A (p.Glu784=)	Cowden syndrome [RCV003588835]\|Inborn genetic diseases [RCV002448431]	likely benign	3	179224757	179224757	Human	2	name
155717351	CV1844916	single nucleotide variant	NM_006218.4(PIK3CA):c.2361C>T (p.Asp787=)	Inborn genetic diseases [RCV002448551]	likely benign	3	179224766	179224766	Human	1	name
155725898	CV1845100	single nucleotide variant	NM_006218.4(PIK3CA):c.2376A>G (p.Leu792=)	Inborn genetic diseases [RCV002450187]	likely benign	3	179224781	179224781	Human	1	name
155711499	CV1845128	single nucleotide variant	NM_006218.4(PIK3CA):c.2466T>C (p.Asn822=)	Cowden syndrome [RCV003753244]\|Inborn genetic diseases [RCV002430756]	likely benign	3	179226011	179226011	Human	2	name
155712263	CV1845403	single nucleotide variant	NM_006218.4(PIK3CA):c.2484T>A (p.Gly828=)	Inborn genetic diseases [RCV002430838]	likely benign	3	179226029	179226029	Human	1	name
155671628	CV1845837	single nucleotide variant	NM_006218.4(PIK3CA):c.2604T>A (p.Gly868=)	Cowden syndrome [RCV003588837]\|Inborn genetic diseases [RCV002437145]	likely benign	3	179229380	179229380	Human	2	name
155739818	CV1846100	single nucleotide variant	NM_006218.4(PIK3CA):c.1923T>C (p.Tyr641=)	Inborn genetic diseases [RCV002410769]	likely benign	3	179219960	179219960	Human	1	name
155740422	CV1846317	single nucleotide variant	NM_006218.4(PIK3CA):c.1935G>A (p.Leu645=)	Inborn genetic diseases [RCV002410987]	likely benign	3	179219972	179219972	Human	1	name
155748189	CV1846885	single nucleotide variant	NM_006218.4(PIK3CA):c.2112G>A (p.Arg704=)	Inborn genetic diseases [RCV002417510]	likely benign	3	179221082	179221082	Human	1	name
155748256	CV1846944	single nucleotide variant	NM_006218.4(PIK3CA):c.2118C>A (p.Val706=)	Inborn genetic diseases [RCV002417569]	likely benign	3	179221088	179221088	Human	1	name
155694466	CV1848099	single nucleotide variant	NM_006218.4(PIK3CA):c.1098C>T (p.Pro366=)	Inborn genetic diseases [RCV002459987]	likely benign	3	179204541	179204541	Human	1	name
155727577	CV1848323	single nucleotide variant	NM_006218.4(PIK3CA):c.2451T>C (p.Ile817=)	Inborn genetic diseases [RCV002450520]	likely benign	3	179225996	179225996	Human	1	name
155691273	CV1848699	single nucleotide variant	NM_006218.4(PIK3CA):c.2568T>C (p.Thr856=)	Inborn genetic diseases [RCV002425976]	likely benign	3	179229344	179229344	Human	1	name
155669296	CV1848946	single nucleotide variant	NM_006218.4(PIK3CA):c.2586C>T (p.Cys862=)	Inborn genetic diseases [RCV002452869]	likely benign	3	179229362	179229362	Human	1	name
155672032	CV1849003	single nucleotide variant	NM_006218.4(PIK3CA):c.268T>C (p.Cys90Arg)	Inborn genetic diseases [RCV002437356]	uncertain significance	3	179199093	179199093	Human	1	name
155704835	CV1849201	single nucleotide variant	NM_006218.4(PIK3CA):c.2706T>C (p.Ala902=)	Inborn genetic diseases [RCV002429047]	likely benign	3	179230043	179230043	Human	1	name
155689252	CV1850514	single nucleotide variant	NM_006218.4(PIK3CA):c.2199G>A (p.Lys733=)	Inborn genetic diseases [RCV002425638]	likely benign	3	179224092	179224092	Human	1	name
155684998	CV1850876	single nucleotide variant	NM_006218.4(PIK3CA):c.2298T>C (p.Leu766=)	Inborn genetic diseases [RCV002457529]	likely benign	3	179224703	179224703	Human	1	name
155725109	CV1851823	single nucleotide variant	NM_006218.4(PIK3CA):c.2538A>G (p.Gly846=)	Inborn genetic diseases [RCV002433207]	likely benign	3	179229314	179229314	Human	1	name
155678782	CV1851887	single nucleotide variant	NM_006218.4(PIK3CA):c.2541T>C (p.Leu847=)	Inborn genetic diseases [RCV002455791]	likely benign	3	179229317	179229317	Human	1	name
155725828	CV1851996	single nucleotide variant	NM_006218.4(PIK3CA):c.2550G>C (p.Val850=)	Cowden syndrome [RCV003588836]\|Inborn genetic diseases [RCV002433302]	likely benign	3	179229326	179229326	Human	2	name
155726015	CV1852032	single nucleotide variant	NM_006218.4(PIK3CA):c.2553G>C (p.Val851=)	Inborn genetic diseases [RCV002433322]	likely benign	3	179229329	179229329	Human	1	name
155670501	CV1852112	single nucleotide variant	NM_006218.4(PIK3CA):c.2655C>T (p.Asn885=)	Inborn genetic diseases [RCV002453093]	likely benign	3	179229431	179229431	Human	1	name
155670777	CV1852472	single nucleotide variant	NM_006218.4(PIK3CA):c.2686C>T (p.Leu896=)	Inborn genetic diseases [RCV002453158]	likely benign	3	179230023	179230023	Human	1	name
155680207	CV1853179	single nucleotide variant	NM_006218.4(PIK3CA):c.2772A>G (p.Lys924=)	Inborn genetic diseases [RCV002439630]	likely benign	3	179230109	179230109	Human	1	name
155680702	CV1853285	single nucleotide variant	NM_006218.4(PIK3CA):c.2781A>C (p.Gly927=)	Inborn genetic diseases [RCV002439736]	likely benign	3	179230118	179230118	Human	1	name
155683563	CV1853563	single nucleotide variant	NM_006218.4(PIK3CA):c.2943G>A (p.Gln981=)	Inborn genetic diseases [RCV002440194]	likely benign	3	179234100	179234100	Human	1	name
155672786	CV1854053	single nucleotide variant	NM_006218.4(PIK3CA):c.2739T>C (p.Ile913=)	Inborn genetic diseases [RCV002437578]	likely benign	3	179230076	179230076	Human	1	name
155680711	CV1854407	single nucleotide variant	NM_006218.4(PIK3CA):c.2904C>T (p.Ala968=)	Inborn genetic diseases [RCV002439739]	likely benign	3	179230344	179230344	Human	1	name
155680860	CV1854438	single nucleotide variant	NM_006218.4(PIK3CA):c.2907A>G (p.Gln969=)	Inborn genetic diseases [RCV002439770]	likely benign	3	179230347	179230347	Human	1	name
155681135	CV1854495	single nucleotide variant	NM_006218.4(PIK3CA):c.2910A>G (p.Glu970=)	Cowden syndrome [RCV003102867]\|Inborn genetic diseases [RCV002439827]	likely benign	3	179230350	179230350	Human	2	name
155665421	CV1855400	single nucleotide variant	NM_006218.4(PIK3CA):c.2850A>G (p.Glu950=)	Inborn genetic diseases [RCV002435356]	likely benign	3	179230290	179230290	Human	1	name
155673854	CV1855692	single nucleotide variant	NM_006218.4(PIK3CA):c.2877T>C (p.Asp959=)	Inborn genetic diseases [RCV002437743]	likely benign	3	179230317	179230317	Human	1	name
155688531	CV1856369	single nucleotide variant	NM_006218.4(PIK3CA):c.2967A>C (p.Leu989=)	Inborn genetic diseases [RCV002442041]	likely benign	3	179234124	179234124	Human	1	name
155689601	CV1856504	single nucleotide variant	NM_006218.4(PIK3CA):c.2979G>A (p.Gln993=)	Inborn genetic diseases [RCV002442178]	likely benign	3	179234136	179234136	Human	1	name
156093640	CV1909937	single nucleotide variant	NM_006218.4(PIK3CA):c.2823G>A (p.Lys941=)	Cowden syndrome [RCV002592002]	uncertain significance	3	179230263	179230263	Human	1	name
156103214	CV1917033	single nucleotide variant	NM_006218.4(PIK3CA):c.1629C>T (p.Ile543=)	Cowden syndrome [RCV002592353]\|Inborn genetic diseases [RCV004068987]	likely benign	3	179218299	179218299	Human	2	name
156154303	CV1926090	single nucleotide variant	NM_006218.4(PIK3CA):c.1680T>C (p.Thr560=)	Cowden syndrome [RCV002624122]	likely benign	3	179219211	179219211	Human	1	name
156436168	CV1951267	single nucleotide variant	NM_006218.4(PIK3CA):c.2241T>C (p.Ala747=)	Cowden syndrome [RCV003117200]	likely benign	3	179224134	179224134	Human	1	name
155946267	CV2028915	single nucleotide variant	NM_006218.4(PIK3CA):c.1248A>G (p.Lys416=)	Cowden syndrome [RCV002730420]\|Inborn genetic diseases [RCV003308249]	likely benign	3	179209697	179209697	Human	2	name
156223084	CV2064127	single nucleotide variant	NM_006218.4(PIK3CA):c.2148T>G (p.Thr716=)	Cowden syndrome [RCV002829763]	likely benign	3	179221118	179221118	Human	1	name
155948910	CV2069012	single nucleotide variant	NM_006218.4(PIK3CA):c.2922A>G (p.Thr974=)	Cowden syndrome [RCV002862238]\|Inborn genetic diseases [RCV004654039]	likely benign	3	179230362	179230362	Human	2	name
156345803	CV2121065	single nucleotide variant	NM_006218.4(PIK3CA):c.2997A>C (p.Ile999=)	Cowden syndrome [RCV002939163]\|Inborn genetic diseases [RCV003308360]	likely benign	3	179234154	179234154	Human	2	name
156128229	CV2125011	single nucleotide variant	NM_006218.4(PIK3CA):c.2787G>C (p.Leu929=)	Cowden syndrome [RCV002953775]\|Inborn genetic diseases [RCV004068039]	likely benign	3	179230227	179230227	Human	2	name
329383684	CV2422453	single nucleotide variant	NM_006218.4(PIK3CA):c.1074A>G (p.Thr358=)	Inborn genetic diseases [RCV003176390]	likely benign	3	179204517	179204517	Human	1	name
329383687	CV2422454	single nucleotide variant	NM_006218.4(PIK3CA):c.1704G>A (p.Leu568=)	Inborn genetic diseases [RCV003176391]	likely benign	3	179219235	179219235	Human	1	name
329383691	CV2422457	single nucleotide variant	NM_006218.4(PIK3CA):c.1719A>G (p.Lys573=)	Inborn genetic diseases [RCV003176392]	likely benign	3	179219250	179219250	Human	1	name
329366752	CV2426832	single nucleotide variant	NM_006218.4(PIK3CA):c.2583G>A (p.Gln861=)	Inborn genetic diseases [RCV003182892]	likely benign	3	179229359	179229359	Human	1	name
329366758	CV2426835	single nucleotide variant	NM_006218.4(PIK3CA):c.1159C>T (p.Leu387=)	Inborn genetic diseases [RCV003182895]	likely benign	3	179209608	179209608	Human	1	name
329366764	CV2426838	single nucleotide variant	NM_006218.4(PIK3CA):c.1968A>G (p.Lys656=)	Inborn genetic diseases [RCV003182898]	likely benign	3	179220005	179220005	Human	1	name
329366766	CV2426839	single nucleotide variant	NM_006218.4(PIK3CA):c.1578T>C (p.Asn526=)	Inborn genetic diseases [RCV003182899]	likely benign	3	179218248	179218248	Human	1	name
329366772	CV2426842	single nucleotide variant	NM_006218.4(PIK3CA):c.1287G>A (p.Leu429=)	Inborn genetic diseases [RCV003182902]	likely benign	3	179210221	179210221	Human	1	name
329366776	CV2426844	single nucleotide variant	NM_006218.4(PIK3CA):c.1143C>T (p.Pro381=)	Inborn genetic diseases [RCV003182904]	likely benign	3	179204586	179204586	Human	1	name
329366780	CV2426846	single nucleotide variant	NM_006218.4(PIK3CA):c.1479A>G (p.Glu493=)	Inborn genetic diseases [RCV003182906]	likely benign	3	179210505	179210505	Human	1	name
329366782	CV2426847	single nucleotide variant	NM_006218.4(PIK3CA):c.1890G>A (p.Gln630=)	Inborn genetic diseases [RCV003182907]	likely benign	3	179219714	179219714	Human	1	name
329366784	CV2426848	single nucleotide variant	NM_006218.4(PIK3CA):c.1347T>C (p.Pro449=)	Inborn genetic diseases [RCV003182908]	likely benign	3	179210281	179210281	Human	1	name
11525578	CV245286	single nucleotide variant	NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=)	Cowden syndrome 5 [RCV003316315]\|Cowden syndrome [RCV001086660]\|Inborn genetic diseases [RCV002411077]\|PIK3CA-related disorder [RCV004535202]\|not provided [RCV000658981]	likely benign	3	179203786	179203786	Human	3	name , alternate_id
11525586	CV245290	single nucleotide variant	NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=)	Cowden syndrome 5 [RCV003316316]\|Cowden syndrome [RCV000237071]\|Inborn genetic diseases [RCV002429160]\|not provided [RCV001538365]	benign\|likely benign	3	179221151	179221151	Human	3	name
11525580	CV245292	single nucleotide variant	NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)	Cowden syndrome 5 [RCV005235204]\|Cowden syndrome [RCV000236279]\|Inborn genetic diseases [RCV002446468]\|not provided [RCV001582799]\|not specified [RCV001579833]	benign\|likely benign	3	179224703	179224703	Human	3	name
11525585	CV245293	single nucleotide variant	NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)	Cowden syndrome 5 [RCV003316317]\|Cowden syndrome [RCV001084863]\|not provided [RCV000597490]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	179234142	179234142	Human	2	name
329394045	CV2472290	single nucleotide variant	NM_006218.4(PIK3CA):c.2808C>T (p.His936=)	Inborn genetic diseases [RCV003218594]	likely benign	3	179230248	179230248	Human	1	name
329394091	CV2472321	single nucleotide variant	NM_006218.4(PIK3CA):c.1233C>T (p.Gly411=)	Inborn genetic diseases [RCV003218617]	likely benign	3	179209682	179209682	Human	1	name
329394112	CV2472332	single nucleotide variant	NM_006218.4(PIK3CA):c.1083C>T (p.Tyr361=)	Inborn genetic diseases [RCV003218628]	likely benign	3	179204526	179204526	Human	1	name
329394166	CV2472359	single nucleotide variant	NM_006218.4(PIK3CA):c.1398A>C (p.Pro466=)	Inborn genetic diseases [RCV003218655]	likely benign	3	179210332	179210332	Human	1	name
329394208	CV2472381	single nucleotide variant	NM_006218.4(PIK3CA):c.2988T>C (p.Asn996=)	Inborn genetic diseases [RCV003218677]	likely benign	3	179234145	179234145	Human	1	name
11547746	CV251013	single nucleotide variant	NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=)	Cowden syndrome [RCV001488790]\|Inborn genetic diseases [RCV002392765]\|not specified [RCV000248169]	likely benign	3	179210538	179210538	Human	2	name
401764797	CV2728083	single nucleotide variant	NM_006218.4(PIK3CA):c.2670T>C (p.Tyr890=)	Inborn genetic diseases [RCV003301039]	likely benign	3	179230007	179230007	Human	1	name
401719406	CV2729199	single nucleotide variant	NM_006218.4(PIK3CA):c.2967A>G (p.Leu989=)	Inborn genetic diseases [RCV003311383]	likely benign	3	179234124	179234124	Human	1	name
401756125	CV2729202	single nucleotide variant	NM_006218.4(PIK3CA):c.2256G>T (p.Leu752=)	Inborn genetic diseases [RCV003278646]	likely benign	3	179224149	179224149	Human	1	name
401719414	CV2729203	single nucleotide variant	NM_006218.4(PIK3CA):c.1845T>C (p.Ala615=)	Inborn genetic diseases [RCV003311385]	likely benign	3	179219669	179219669	Human	1	name
401756130	CV2729205	single nucleotide variant	NM_006218.4(PIK3CA):c.1380T>C (p.Gly460=)	Inborn genetic diseases [RCV003278648]	likely benign	3	179210314	179210314	Human	1	name
401719416	CV2729206	single nucleotide variant	NM_006218.4(PIK3CA):c.1020T>C (p.Cys340=)	Inborn genetic diseases [RCV003311386]	likely benign	3	179203750	179203750	Human	1	name
401719419	CV2729207	single nucleotide variant	NM_006218.4(PIK3CA):c.2355C>T (p.Asn785=)	Inborn genetic diseases [RCV003311387]	likely benign	3	179224760	179224760	Human	1	name
401719424	CV2729208	single nucleotide variant	NM_006218.4(PIK3CA):c.2190A>G (p.Val730=)	Inborn genetic diseases [RCV003311388]	likely benign	3	179224083	179224083	Human	1	name
401756133	CV2729210	single nucleotide variant	NM_006218.4(PIK3CA):c.2229T>C (p.Asp743=)	Inborn genetic diseases [RCV003278649]	likely benign	3	179224122	179224122	Human	1	name
401719438	CV2729214	single nucleotide variant	NM_006218.4(PIK3CA):c.1422G>A (p.Glu474=)	Inborn genetic diseases [RCV003311392]	likely benign	3	179210448	179210448	Human	1	name
401719441	CV2729215	single nucleotide variant	NM_006218.4(PIK3CA):c.1353A>G (p.Gly451=)	Inborn genetic diseases [RCV003311393]	likely benign	3	179210287	179210287	Human	1	name
401876060	CV2750190	single nucleotide variant	NM_006218.4(PIK3CA):c.287A>G (p.Gln96Arg)	Cerebral cavernous malformation 4 [RCV003333638]	uncertain significance	3	179199112	179199112	Human	1	name
401883055	CV2763844	single nucleotide variant	NM_006218.4(PIK3CA):c.2256G>C (p.Leu752=)	Inborn genetic diseases [RCV003350716]	likely benign	3	179224149	179224149	Human	1	name
401883056	CV2763845	single nucleotide variant	NM_006218.4(PIK3CA):c.2592C>A (p.Gly864=)	Inborn genetic diseases [RCV003350717]	likely benign	3	179229368	179229368	Human	1	name
401883062	CV2763851	single nucleotide variant	NM_006218.4(PIK3CA):c.1569A>G (p.Leu523=)	Inborn genetic diseases [RCV003350720]	likely benign	3	179218239	179218239	Human	1	name
401874209	CV2773693	single nucleotide variant	NM_006218.4(PIK3CA):c.2490T>C (p.Asp830=)	Inborn genetic diseases [RCV003362180]	likely benign	3	179226035	179226035	Human	1	name
401899439	CV2790418	single nucleotide variant	NM_006218.4(PIK3CA):c.1386T>G (p.Thr462=)	Inborn genetic diseases [RCV003377602]	likely benign	3	179210320	179210320	Human	1	name
401899441	CV2790420	single nucleotide variant	NM_006218.4(PIK3CA):c.2793T>C (p.His931=)	Inborn genetic diseases [RCV003377604]	likely benign	3	179230233	179230233	Human	1	name
401899442	CV2790421	single nucleotide variant	NM_006218.4(PIK3CA):c.1815T>C (p.Asn605=)	Inborn genetic diseases [RCV003377605]	likely benign	3	179219639	179219639	Human	1	name
401899443	CV2790422	single nucleotide variant	NM_006218.4(PIK3CA):c.1365G>A (p.Leu455=)	Inborn genetic diseases [RCV003377606]	likely benign	3	179210299	179210299	Human	1	name
401922992	CV2825070	single nucleotide variant	NM_006218.4(PIK3CA):c.1221C>T (p.Cys407=)	not provided [RCV003434800]	likely benign	3	179209670	179209670	Human		name
405177805	CV2886820	single nucleotide variant	NM_006218.4(PIK3CA):c.1203A>C (p.Arg401=)	Cowden syndrome [RCV003588299]	likely benign	3	179209652	179209652	Human	1	name
405178325	CV2890492	single nucleotide variant	NM_006218.4(PIK3CA):c.2785C>T (p.Leu929=)	Cowden syndrome [RCV003588355]	uncertain significance	3	179230225	179230225	Human	1	name
405129852	CV2965060	single nucleotide variant	NM_006218.4(PIK3CA):c.1567T>C (p.Leu523=)	Cowden syndrome [RCV003754091]	likely benign	3	179218237	179218237	Human	1	name
405135421	CV3015042	single nucleotide variant	NM_006218.4(PIK3CA):c.1960C>T (p.Leu654=)	Cowden syndrome [RCV003754653]	likely benign	3	179219997	179219997	Human	1	name
405137412	CV3021336	single nucleotide variant	NM_006218.4(PIK3CA):c.2181A>C (p.Thr727=)	Cowden syndrome [RCV003754838]	likely benign	3	179221151	179221151	Human	1	name
405120038	CV3033930	single nucleotide variant	NM_006218.4(PIK3CA):c.134T>C (p.Ile45Thr)	Cowden syndrome [RCV003752867]	uncertain significance	3	179198959	179198959	Human	1	name
405722025	CV3381056	single nucleotide variant	NM_006218.4(PIK3CA):c.1425G>A (p.Leu475=)	Inborn genetic diseases [RCV004523978]	likely benign	3	179210451	179210451	Human	1	name
405722033	CV3381057	single nucleotide variant	NM_006218.4(PIK3CA):c.1488C>A (p.Ala496=)	Inborn genetic diseases [RCV004523979]	likely benign	3	179210514	179210514	Human	1	name
405722040	CV3381058	single nucleotide variant	NM_006218.4(PIK3CA):c.1560C>T (p.Asp520=)	Inborn genetic diseases [RCV004523980]	likely benign	3	179218230	179218230	Human	1	name
405722056	CV3381060	single nucleotide variant	NM_006218.4(PIK3CA):c.1663A>C (p.Arg555=)	Inborn genetic diseases [RCV004523982]	likely benign	3	179218333	179218333	Human	1	name
405722069	CV3381062	single nucleotide variant	NM_006218.4(PIK3CA):c.1716T>A (p.Val572=)	Inborn genetic diseases [RCV004523984]	likely benign	3	179219247	179219247	Human	1	name
405722077	CV3381063	single nucleotide variant	NM_006218.4(PIK3CA):c.1756T>C (p.Leu586=)	Inborn genetic diseases [RCV004523985]	likely benign	3	179219580	179219580	Human	1	name
405722095	CV3381066	single nucleotide variant	NM_006218.4(PIK3CA):c.1806G>A (p.Leu602=)	Inborn genetic diseases [RCV004523988]	likely benign	3	179219630	179219630	Human	1	name
405722109	CV3381068	single nucleotide variant	NM_006218.4(PIK3CA):c.1854C>T (p.Cys618=)	Inborn genetic diseases [RCV004523990]	likely benign	3	179219678	179219678	Human	1	name
405722119	CV3381070	single nucleotide variant	NM_006218.4(PIK3CA):c.1902G>A (p.Gln634=)	Inborn genetic diseases [RCV004523992]	likely benign	3	179219726	179219726	Human	1	name
405722127	CV3381071	single nucleotide variant	NM_006218.4(PIK3CA):c.1944G>A (p.Leu648=)	Inborn genetic diseases [RCV004523993]	likely benign	3	179219981	179219981	Human	1	name
405722148	CV3381074	single nucleotide variant	NM_006218.4(PIK3CA):c.1998T>C (p.Phe666=)	Inborn genetic diseases [RCV004523996]	likely benign	3	179220035	179220035	Human	1	name
405722179	CV3381078	single nucleotide variant	NM_006218.4(PIK3CA):c.2250C>T (p.Gly750=)	Inborn genetic diseases [RCV004524000]	likely benign	3	179224143	179224143	Human	1	name
405722204	CV3381081	single nucleotide variant	NM_006218.4(PIK3CA):c.2373G>A (p.Glu791=)	Inborn genetic diseases [RCV004524003]	likely benign	3	179224778	179224778	Human	1	name
405722209	CV3381082	single nucleotide variant	NM_006218.4(PIK3CA):c.2529C>T (p.Asp843=)	Inborn genetic diseases [RCV004524004]	likely benign	3	179229305	179229305	Human	1	name
405722218	CV3381083	single nucleotide variant	NM_006218.4(PIK3CA):c.2608C>T (p.Leu870=)	Inborn genetic diseases [RCV004524005]	likely benign	3	179229384	179229384	Human	1	name
405722234	CV3381085	single nucleotide variant	NM_006218.4(PIK3CA):c.2691T>C (p.Phe897=)	Inborn genetic diseases [RCV004524007]	likely benign	3	179230028	179230028	Human	1	name
405722240	CV3381086	single nucleotide variant	NM_006218.4(PIK3CA):c.2721T>C (p.Ala907=)	Inborn genetic diseases [RCV004524008]	likely benign	3	179230058	179230058	Human	1	name
405722258	CV3381089	single nucleotide variant	NM_006218.4(PIK3CA):c.2862T>C (p.Phe954=)	Inborn genetic diseases [RCV004524010]	likely benign	3	179230302	179230302	Human	1	name
405722267	CV3381090	single nucleotide variant	NM_006218.4(PIK3CA):c.2970T>C (p.Ala990=)	Inborn genetic diseases [RCV004524011]	likely benign	3	179234127	179234127	Human	1	name
598214496	CV3416820	single nucleotide variant	NM_006218.4(PIK3CA):c.115G>A (p.Glu39Lys)	PIK3CA related overgrowth syndrome [RCV005251386]	likely pathogenic	3	179198940	179198940	Human	1	name , alternate_id
407511988	CV3463570	single nucleotide variant	NM_006218.4(PIK3CA):c.2001C>T (p.Phe667=)	Inborn genetic diseases [RCV004648234]	likely benign	3	179220038	179220038	Human	1	name
407511998	CV3463579	single nucleotide variant	NM_006218.4(PIK3CA):c.2634T>C (p.His878=)	Inborn genetic diseases [RCV004648238]	likely benign	3	179229410	179229410	Human	1	name
407512001	CV3463580	single nucleotide variant	NM_006218.4(PIK3CA):c.1713T>C (p.Ser571=)	Inborn genetic diseases [RCV004648239]	likely benign	3	179219244	179219244	Human	1	name
407530743	CV3463582	single nucleotide variant	NM_006218.4(PIK3CA):c.1317A>G (p.Gly439=)	Inborn genetic diseases [RCV004657213]	likely benign	3	179210251	179210251	Human	1	name
407512008	CV3463586	single nucleotide variant	NM_006218.4(PIK3CA):c.2010T>C (p.His670=)	Inborn genetic diseases [RCV004648242]	likely benign	3	179220047	179220047	Human	1	name
407512013	CV3463590	single nucleotide variant	NM_006218.4(PIK3CA):c.1695A>G (p.Leu565=)	Inborn genetic diseases [RCV004648244]	likely benign	3	179219226	179219226	Human	1	name
407512018	CV3463593	single nucleotide variant	NM_006218.4(PIK3CA):c.1212T>A (p.Leu404=)	Inborn genetic diseases [RCV004648246]	likely benign	3	179209661	179209661	Human	1	name
407573002	CV3498711	deletion	NM_006218.4(PIK3CA):c.992del (p.Asn331fs)	not specified [RCV004699681]	uncertain significance	3	179203720	179203720	Human		name
408385494	CV3520201	duplication	NM_006218.4(PIK3CA):c.724dup (p.Cys242fs)	not provided [RCV004760022]	uncertain significance	3	179201450	179201451	Human		name
597716075	CV3579712	single nucleotide variant	NM_006218.4(PIK3CA):c.2595C>A (p.Gly865=)	Inborn genetic diseases [RCV004959803]	likely benign	3	179229371	179229371	Human	1	name
597716083	CV3579713	single nucleotide variant	NM_006218.4(PIK3CA):c.2094T>C (p.Tyr698=)	Inborn genetic diseases [RCV004959804]	likely benign	3	179221064	179221064	Human	1	name
597716092	CV3579714	single nucleotide variant	NM_006218.4(PIK3CA):c.1605T>G (p.Ser535=)	Inborn genetic diseases [RCV004959805]	likely benign	3	179218275	179218275	Human	1	name
597716116	CV3579717	single nucleotide variant	NM_006218.4(PIK3CA):c.1236A>G (p.Arg412=)	Inborn genetic diseases [RCV004959808]	likely benign	3	179209685	179209685	Human	1	name
597716133	CV3579720	single nucleotide variant	NM_006218.4(PIK3CA):c.2505T>G (p.Pro835=)	Inborn genetic diseases [RCV004959810]	likely benign	3	179229281	179229281	Human	1	name
597716147	CV3579722	single nucleotide variant	NM_006218.4(PIK3CA):c.2262T>C (p.Pro754=)	Inborn genetic diseases [RCV004959812]	likely benign	3	179224155	179224155	Human	1	name
597716171	CV3579725	single nucleotide variant	NM_006218.4(PIK3CA):c.2721T>A (p.Ala907=)	Inborn genetic diseases [RCV004959815]	likely benign	3	179230058	179230058	Human	1	name
597716191	CV3579729	single nucleotide variant	NM_006218.4(PIK3CA):c.1170T>C (p.Asp390=)	Inborn genetic diseases [RCV004959818]	likely benign	3	179209619	179209619	Human	1	name
597716208	CV3579731	single nucleotide variant	NM_006218.4(PIK3CA):c.1164T>C (p.Asn388=)	Inborn genetic diseases [RCV004959820]	likely benign	3	179209613	179209613	Human	1	name
597716215	CV3579732	single nucleotide variant	NM_006218.4(PIK3CA):c.1335T>C (p.Leu445=)	Inborn genetic diseases [RCV004959821]	likely benign	3	179210269	179210269	Human	1	name
597716250	CV3579737	single nucleotide variant	NM_006218.4(PIK3CA):c.2715T>C (p.Cys905=)	Inborn genetic diseases [RCV004959826]	likely benign	3	179230052	179230052	Human	1	name
597716257	CV3579738	single nucleotide variant	NM_006218.4(PIK3CA):c.1354T>C (p.Leu452=)	Inborn genetic diseases [RCV004959827]	likely benign	3	179210288	179210288	Human	1	name
597716266	CV3579740	single nucleotide variant	NM_006218.4(PIK3CA):c.2994C>T (p.Phe998=)	Inborn genetic diseases [RCV004959828]	likely benign	3	179234151	179234151	Human	1	name
597716281	CV3579742	single nucleotide variant	NM_006218.4(PIK3CA):c.145C>G (p.Leu49Val)	Inborn genetic diseases [RCV004959830]	uncertain significance	3	179198970	179198970	Human	1	name
597716289	CV3579743	single nucleotide variant	NM_006218.4(PIK3CA):c.2874G>A (p.Gln958=)	Inborn genetic diseases [RCV004959831]	likely benign	3	179230314	179230314	Human	1	name
597716307	CV3579746	single nucleotide variant	NM_006218.4(PIK3CA):c.1038A>T (p.Val346=)	Inborn genetic diseases [RCV004959834]	likely benign	3	179203768	179203768	Human	1	name
597716350	CV3579753	single nucleotide variant	NM_006218.4(PIK3CA):c.1503C>T (p.Ser501=)	Inborn genetic diseases [RCV004959840]	likely benign	3	179210529	179210529	Human	1	name
597716362	CV3579755	single nucleotide variant	NM_006218.4(PIK3CA):c.2178A>G (p.Glu726=)	Inborn genetic diseases [RCV004959842]	likely benign	3	179221148	179221148	Human	1	name
597716376	CV3579757	single nucleotide variant	NM_006218.4(PIK3CA):c.2931T>C (p.Phe977=)	Inborn genetic diseases [RCV004959844]	likely benign	3	179230371	179230371	Human	1	name
597716380	CV3579758	single nucleotide variant	NM_006218.4(PIK3CA):c.2454T>C (p.Arg818=)	Inborn genetic diseases [RCV004959845]	likely benign	3	179225999	179225999	Human	1	name
597716407	CV3579763	single nucleotide variant	NM_006218.4(PIK3CA):c.2379G>C (p.Leu793=)	Inborn genetic diseases [RCV004959849]	likely benign	3	179224784	179224784	Human	1	name
597716439	CV3579768	single nucleotide variant	NM_006218.4(PIK3CA):c.1867T>C (p.Leu623=)	Inborn genetic diseases [RCV004959854]	likely benign	3	179219691	179219691	Human	1	name
12836421	CV362928	single nucleotide variant	NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	Abnormal cerebral morphology [RCV002275002]\|CLOVES syndrome [RCV004767253]\|Cowden syndrome 5 [RCV003995942]\|Cowden syndrome [RCV001224952]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV003225067]\|Ovarian neoplasm [RCV000785354]\|PIK3CA related ... (more) overgrowth syndrome [RCV002274026]\|not provided [RCV001562650]	pathogenic\|likely pathogenic	3	179199088	179199088	Human	8	name , alternate_id
12834368	CV363357	single nucleotide variant	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	Abnormal cardiovascular system morphology [RCV001327958]\|CLOVES syndrome [RCV001526599]\|Cowden syndrome [RCV002524695]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001542570]\|PIK3CA related overgrowth syndrome [RCV003458199]\|not provided [RC ... (more) V001837893]	pathogenic\|likely pathogenic	3	179199066	179199066	Human	5	name , alternate_id
12837196	CV363371	single nucleotide variant	NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV003993951]	likely pathogenic	3	179198938	179198938	Human		name
12834476	CV363372	single nucleotide variant	NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)	Cowden syndrome [RCV001861480]\|not provided [RCV003229833]	likely pathogenic\|uncertain significance	3	179198937	179198937	Human	1	name
12835357	CV363373	single nucleotide variant	NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)	Gastric adenocarcinoma [RCV000431544]\|Glioblastoma [RCV000430901]\|Malignant neoplasm of body of uterus [RCV000424314]\|Neoplasm of the large intestine [RCV000438739]\|Neoplasm of uterine cervix [RCV000421528]\|Squamous cell lung carcinoma [RCV000441606]	likely pathogenic	3	179198937	179198937	Human	4	name
12837671	CV363374	single nucleotide variant	NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)	Gastric adenocarcinoma [RCV000432150]\|Glioblastoma [RCV000426273]\|Malignant neoplasm of body of uterus [RCV000442897]\|Neoplasm of the large intestine [RCV000432808]\|Neoplasm of uterine cervix [RCV000442990]\|Squamous cell lung carcinoma [RCV000425565]	likely pathogenic	3	179198938	179198938	Human	4	name
12834508	CV363375	single nucleotide variant	NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)	Gastric adenocarcinoma [RCV000419739]\|Glioblastoma [RCV000420508]\|Malignant neoplasm of body of uterus [RCV000436970]\|Neoplasm of the large intestine [RCV000427069]\|Neoplasm of uterine cervix [RCV000437732]\|Squamous cell lung carcinoma [RCV000431174]	likely pathogenic	3	179198937	179198937	Human	4	name
597843398	CV3735906	single nucleotide variant	NM_006218.4(PIK3CA):c.101T>C (p.Leu34Ser)	not provided [RCV005065255]	uncertain significance	3	179198926	179198926	Human		name
598223866	CV3894057	single nucleotide variant	NM_006218.4(PIK3CA):c.2095T>C (p.Leu699=)	not provided [RCV005257300]	likely benign	3	179221065	179221065	Human		name
12882637	CV393404	single nucleotide variant	NM_006218.4(PIK3CA):c.140A>G (p.His47Arg)	Cowden syndrome [RCV000460046]\|not provided [RCV002223207]	uncertain significance	3	179198965	179198965	Human	1	name
12890019	CV393410	single nucleotide variant	NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=)	Cowden syndrome 5 [RCV003316577]\|Cowden syndrome [RCV000473850]\|Inborn genetic diseases [RCV002451149]\|not provided [RCV001533820]\|not specified [RCV001796063]	benign\|likely benign	3	179204586	179204586	Human	3	name
12885793	CV393415	single nucleotide variant	NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=)	Cowden syndrome [RCV000466060]\|Inborn genetic diseases [RCV002402305]	likely benign	3	179218233	179218233	Human	2	name
12888963	CV393418	single nucleotide variant	NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=)	Cowden syndrome 5 [RCV003316576]\|Cowden syndrome [RCV000471914]\|Inborn genetic diseases [RCV002402304]\|not provided [RCV001662434]	benign\|likely benign	3	179219612	179219612	Human	3	name
12885143	CV393420	single nucleotide variant	NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=)	Cowden syndrome [RCV001476323]\|Inborn genetic diseases [RCV002418430]\|not provided [RCV000464785]	likely benign	3	179220050	179220050	Human	2	name
12890446	CV393427	single nucleotide variant	NM_006218.4(PIK3CA):c.2118C>T (p.Val706=)	Cowden syndrome [RCV001482734]\|Inborn genetic diseases [RCV002418431]	likely benign	3	179221088	179221088	Human	2	name
12887593	CV393431	single nucleotide variant	NM_006218.4(PIK3CA):c.2439A>C (p.Thr813=)	Cowden syndrome [RCV001428167]\|Inborn genetic diseases [RCV002451148]	likely benign	3	179225984	179225984	Human	2	name
12882805	CV393601	single nucleotide variant	NM_006218.4(PIK3CA):c.1254A>G (p.Glu418=)	Cowden syndrome [RCV000460357]	likely benign	3	179210188	179210188	Human	1	name
12887935	CV393605	single nucleotide variant	NM_006218.4(PIK3CA):c.1449G>C (p.Val483=)	Cowden syndrome [RCV000469978]\|Inborn genetic diseases [RCV002393176]	likely benign	3	179210475	179210475	Human	2	name
12888376	CV393623	single nucleotide variant	NM_006218.4(PIK3CA):c.2514T>C (p.Cys838=)	Cowden syndrome [RCV000470773]\|Inborn genetic diseases [RCV002429561]	likely benign	3	179229290	179229290	Human	2	name
12883770	CV393790	single nucleotide variant	NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=)	Cowden syndrome [RCV001399230]\|Inborn genetic diseases [RCV002383844]	likely benign	3	179210239	179210239	Human	2	name
12891132	CV393799	single nucleotide variant	NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=)	Cowden syndrome [RCV000476002]\|Inborn genetic diseases [RCV002418429]	likely benign	3	179221019	179221019	Human	2	name
598272536	CV4006621	single nucleotide variant	NM_006218.4(PIK3CA):c.2004T>C (p.Phe668=)	Inborn genetic diseases [RCV005389402]	likely benign	3	179220041	179220041	Human	1	name
598272549	CV4006626	single nucleotide variant	NM_006218.4(PIK3CA):c.131C>T (p.Thr44Ile)	Inborn genetic diseases [RCV005389407]	uncertain significance	3	179198956	179198956	Human	1	name
598272563	CV4006631	single nucleotide variant	NM_006218.4(PIK3CA):c.1413A>C (p.Pro471=)	Inborn genetic diseases [RCV005389412]	likely benign	3	179210439	179210439	Human	1	name
598272567	CV4006632	single nucleotide variant	NM_006218.4(PIK3CA):c.2391T>C (p.Asn797=)	Inborn genetic diseases [RCV005389413]	likely benign	3	179224796	179224796	Human	1	name
598272568	CV4006633	single nucleotide variant	NM_006218.4(PIK3CA):c.1521C>T (p.Ser507=)	Inborn genetic diseases [RCV005389414]	likely benign	3	179210547	179210547	Human	1	name
598272579	CV4006637	single nucleotide variant	NM_006218.4(PIK3CA):c.1113G>A (p.Val371=)	Inborn genetic diseases [RCV005389417]	likely benign	3	179204556	179204556	Human	1	name
598272580	CV4006638	single nucleotide variant	NM_006218.4(PIK3CA):c.2520A>G (p.Ser840=)	Inborn genetic diseases [RCV005389418]	likely benign	3	179229296	179229296	Human	1	name
598272585	CV4006640	single nucleotide variant	NM_006218.4(PIK3CA):c.1182T>G (p.Pro394=)	Inborn genetic diseases [RCV005389420]	likely benign	3	179209631	179209631	Human	1	name
598272589	CV4006641	single nucleotide variant	NM_006218.4(PIK3CA):c.1651C>T (p.Leu551=)	Inborn genetic diseases [RCV005389421]	likely benign	3	179218321	179218321	Human	1	name
598272603	CV4006647	single nucleotide variant	NM_006218.4(PIK3CA):c.2259T>G (p.Ser753=)	Inborn genetic diseases [RCV005389426]	likely benign	3	179224152	179224152	Human	1	name
598272608	CV4006650	single nucleotide variant	NM_006218.4(PIK3CA):c.2613G>A (p.Gln871=)	Inborn genetic diseases [RCV005389428]	likely benign	3	179229389	179229389	Human	1	name
12895645	CV406148	single nucleotide variant	NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)	Cowden syndrome 5 [RCV005252905]\|Global developmental delay [RCV002464207]\|not provided [RCV000487221]	pathogenic	3	179199103	179199103	Human	5	name
12905595	CV413650	single nucleotide variant	NM_006218.4(PIK3CA):c.148T>C (p.Phe50Leu)	not provided [RCV000487716]	uncertain significance	3	179198973	179198973	Human		name
13494165	CV451950	single nucleotide variant	NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=)	Cowden syndrome [RCV000536201]\|Inborn genetic diseases [RCV002395289]	likely benign	3	179218305	179218305	Human	2	name
13481603	CV451951	single nucleotide variant	NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=)	Cowden syndrome 5 [RCV005235384]\|Cowden syndrome [RCV000551506]\|Inborn genetic diseases [RCV002404375]\|not provided [RCV003431073]	benign\|likely benign	3	179219217	179219217	Human	3	name
13493084	CV451958	single nucleotide variant	NM_006218.4(PIK3CA):c.2040T>C (p.Val680=)	Cowden syndrome [RCV000535432]\|Inborn genetic diseases [RCV002420353]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001725187]	likely benign	3	179221010	179221010	Human	2	name
13479682	CV451961	single nucleotide variant	NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=)	Cowden syndrome [RCV001411650]\|Inborn genetic diseases [RCV002456049]\|PIK3CA-related disorder [RCV004537903]	likely benign	3	179225984	179225984	Human	2	name , alternate_id
13493031	CV452150	single nucleotide variant	NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln)	Cowden syndrome [RCV000557885]	uncertain significance	3	179198979	179198979	Human	1	name
13485280	CV452177	single nucleotide variant	NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=)	Cowden syndrome [RCV000553156]\|Inborn genetic diseases [RCV002456050]	likely benign	3	179229425	179229425	Human	2	name
13481533	CV452298	single nucleotide variant	NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)	Cowden syndrome [RCV000529008]\|Inborn genetic diseases [RCV002528307]	likely benign\|uncertain significance	3	179199036	179199036	Human	2	name
13494126	CV452305	single nucleotide variant	NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=)	Cowden syndrome [RCV000558667]\|Inborn genetic diseases [RCV002384043]\|PIK3CA-related disorder [RCV004541645]\|not provided [RCV003431072]	likely benign	3	179203759	179203759	Human	2	name , alternate_id
13471259	CV452307	single nucleotide variant	NM_006218.4(PIK3CA):c.2856G>A (p.Val952=)	Cowden syndrome [RCV000546740]\|Inborn genetic diseases [RCV002438293]	likely benign	3	179230296	179230296	Human	2	name
13496038	CV452415	single nucleotide variant	NM_006218.4(PIK3CA):c.141T>G (p.His47Gln)	Cowden syndrome [RCV000537569]	uncertain significance	3	179198966	179198966	Human	1	name
13613483	CV518955	single nucleotide variant	NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)	Cowden syndrome [RCV000631212]\|not provided [RCV000998159]	conflicting interpretations of pathogenicity\|uncertain significance	3	179199003	179199003	Human	1	name
13613504	CV518971	single nucleotide variant	NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=)	Cowden syndrome [RCV000631222]\|Inborn genetic diseases [RCV002431858]	likely benign	3	179221139	179221139	Human	2	name
13613515	CV518975	single nucleotide variant	NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=)	Cowden syndrome [RCV000631226]\|Inborn genetic diseases [RCV002438647]	likely benign	3	179230359	179230359	Human	2	name
13613527	CV519156	single nucleotide variant	NM_006218.4(PIK3CA):c.1215C>T (p.Ser405=)	Cowden syndrome [RCV001426025]	likely benign	3	179209664	179209664	Human	1	name
13613517	CV519163	single nucleotide variant	NM_006218.4(PIK3CA):c.1485T>C (p.His495=)	Cowden syndrome [RCV000631227]	likely benign	3	179210511	179210511	Human	1	name
13613510	CV519167	single nucleotide variant	NM_006218.4(PIK3CA):c.1530C>T (p.His510=)	Cowden syndrome [RCV000631224]\|Inborn genetic diseases [RCV002388002]	likely benign	3	179210556	179210556	Human	2	name
13613512	CV519169	single nucleotide variant	NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=)	Cowden syndrome [RCV000631225]	likely benign	3	179219996	179219996	Human	1	name
13613522	CV519172	single nucleotide variant	NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=)	Cowden syndrome [RCV000631229]\|Inborn genetic diseases [RCV002438648]	likely benign	3	179230112	179230112	Human	2	name
13613502	CV519173	single nucleotide variant	NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=)	Cowden syndrome [RCV000631221]\|Inborn genetic diseases [RCV002377350]\|not provided [RCV005243313]	likely benign	3	179210203	179210203	Human	2	name
13613524	CV519176	single nucleotide variant	NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=)	Cowden syndrome [RCV000631230]\|Inborn genetic diseases [RCV003162797]	likely benign	3	179210290	179210290	Human	2	name
13613520	CV519189	single nucleotide variant	NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=)	Cowden syndrome [RCV001397056]	likely benign	3	179224706	179224706	Human	1	name
13706330	CV537441	single nucleotide variant	NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)	Cowden syndrome 1 [RCV000987365]\|Cowden syndrome [RCV001088006]\|Inborn genetic diseases [RCV002442380]\|not provided [RCV000658982]	likely benign	3	179225963	179225963	Human	3	name
13808867	CV561270	single nucleotide variant	NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly)	Cowden syndrome [RCV000687483]	uncertain significance	3	179199039	179199039	Human	1	name
13802069	CV576075	single nucleotide variant	NM_006218.4(PIK3CA):c.248T>C (p.Phe83Ser)	CLAPO syndrome [RCV000709697]	pathogenic	3	179199073	179199073	Human	1	name
13827423	CV578414	duplication	NM_006218.4(PIK3CA):c.407dup (p.Gln137fs)	Familial cancer of breast [RCV000714876]\|PIK3CA related overgrowth syndrome [RCV000714877]	likely pathogenic	3	179199743	179199744	Human	2	name , alternate_id
14711601	CV631050	duplication	NM_006218.4(PIK3CA):c.851dup (p.Asn284fs)	Cowden syndrome [RCV000810012]	uncertain significance	3	179203579	179203580	Human	1	name
15132354	CV683566	single nucleotide variant	NM_006218.4(PIK3CA):c.1104T>C (p.Cys368=)	Cowden syndrome [RCV000863787]\|Inborn genetic diseases [RCV002427106]\|PIK3CA-related disorder [RCV004540176]	likely benign	3	179204547	179204547	Human	2	name , alternate_id
15130770	CV683567	single nucleotide variant	NM_006218.4(PIK3CA):c.1458C>T (p.Phe486=)	Cowden syndrome [RCV001089266]\|Inborn genetic diseases [RCV002390754]\|not provided [RCV000863490]	likely benign	3	179210484	179210484	Human	2	name
15101070	CV686366	single nucleotide variant	NM_006218.4(PIK3CA):c.1263A>G (p.Pro421=)	Cowden syndrome [RCV000870179]\|Inborn genetic diseases [RCV002442848]	likely benign	3	179210197	179210197	Human	2	name
15144605	CV686367	single nucleotide variant	NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)	Cowden syndrome 1 [RCV000987361]\|Cowden syndrome [RCV000865936]\|Inborn genetic diseases [RCV002399892]\|not provided [RCV003438515]	likely benign	3	179219591	179219591	Human	3	name
15149150	CV686368	single nucleotide variant	NM_006218.4(PIK3CA):c.1809C>T (p.Asp603=)	Cowden syndrome [RCV000866801]\|Inborn genetic diseases [RCV002409046]\|not provided [RCV003432813]	benign\|likely benign	3	179219633	179219633	Human	2	name
15154409	CV686369	single nucleotide variant	NM_006218.4(PIK3CA):c.2991C>T (p.Leu997=)	Cowden syndrome [RCV001504070]\|Inborn genetic diseases [RCV002434101]	likely benign	3	179234148	179234148	Human	2	name
15116219	CV691333	single nucleotide variant	NM_006218.4(PIK3CA):c.1299A>G (p.Thr433=)	Cowden syndrome [RCV001452851]\|Inborn genetic diseases [RCV002381992]	likely benign	3	179210233	179210233	Human	2	name
15113574	CV691334	single nucleotide variant	NM_006218.4(PIK3CA):c.2277T>C (p.His759=)	Cowden syndrome [RCV001503124]\|Inborn genetic diseases [RCV002444943]	likely benign	3	179224170	179224170	Human	2	name
15188253	CV697939	single nucleotide variant	NM_006218.4(PIK3CA):c.1413A>G (p.Pro471=)	Inborn genetic diseases [RCV003307760]\|not provided [RCV000953826]	likely benign	3	179210439	179210439	Human	1	name
15163783	CV697940	single nucleotide variant	NM_006218.4(PIK3CA):c.1599A>T (p.Ala533=)	Cowden syndrome [RCV000948173]\|Inborn genetic diseases [RCV002400099]	likely benign	3	179218269	179218269	Human	2	name
15163787	CV697941	single nucleotide variant	NM_006218.4(PIK3CA):c.1743C>A (p.Ala581=)	Cowden syndrome [RCV000948174]\|Inborn genetic diseases [RCV002409259]	likely benign	3	179219274	179219274	Human	2	name
15174499	CV697942	single nucleotide variant	NM_006218.4(PIK3CA):c.2679C>T (p.Ala893=)	Cowden syndrome [RCV001455078]\|Inborn genetic diseases [RCV002427380]	likely benign	3	179230016	179230016	Human	2	name
15114151	CV733924	single nucleotide variant	NM_006218.4(PIK3CA):c.1428G>A (p.Glu476=)	Cowden syndrome [RCV001498858]\|Inborn genetic diseases [RCV002390876]	likely benign	3	179210454	179210454	Human	2	name
15166888	CV748114	single nucleotide variant	NM_006218.4(PIK3CA):c.1203A>G (p.Arg401=)	Cowden syndrome [RCV000926971]\|Inborn genetic diseases [RCV004958293]	likely benign	3	179209652	179209652	Human	2	name
15187806	CV763737	single nucleotide variant	NM_006218.4(PIK3CA):c.1374T>A (p.Pro458=)	Cowden syndrome [RCV001431055]	likely benign	3	179210308	179210308	Human	1	name
15114562	CV763738	single nucleotide variant	NM_006218.4(PIK3CA):c.2109T>C (p.Asn703=)	Cowden syndrome [RCV001441764]	likely benign	3	179221079	179221079	Human	1	name
15137013	CV763739	single nucleotide variant	NM_006218.4(PIK3CA):c.2115A>G (p.Gln705=)	Cowden syndrome [RCV001428782]\|Inborn genetic diseases [RCV004958316]	likely benign	3	179221085	179221085	Human	2	name
15188491	CV763740	single nucleotide variant	NM_006218.4(PIK3CA):c.2172G>A (p.Lys724=)	Cowden syndrome [RCV002542255]\|Inborn genetic diseases [RCV002427317]	likely benign	3	179221142	179221142	Human	2	name
15139062	CV763741	single nucleotide variant	NM_006218.4(PIK3CA):c.2214A>G (p.Gln738=)	Cowden syndrome [RCV002544603]\|Inborn genetic diseases [RCV003169438]	likely benign	3	179224107	179224107	Human	2	name
15147377	CV763742	single nucleotide variant	NM_006218.4(PIK3CA):c.2274T>C (p.Ala758=)	Cowden syndrome [RCV001396730]	likely benign	3	179224167	179224167	Human	1	name
15129934	CV763743	single nucleotide variant	NM_006218.4(PIK3CA):c.2520A>T (p.Ser840=)	Cowden syndrome [RCV001472460]\|Inborn genetic diseases [RCV003307746]	likely benign	3	179229296	179229296	Human	2	name
21071267	CV790363	single nucleotide variant	NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)	Cowden syndrome 1 [RCV000987359]\|Inborn genetic diseases [RCV002400161]	likely benign	3	179219274	179219274	Human	2	name
26902475	CV827719	single nucleotide variant	NM_006218.4(PIK3CA):c.139C>T (p.His47Tyr)	Cowden syndrome [RCV001071905]	uncertain significance	3	179198964	179198964	Human	1	name
26899278	CV827720	single nucleotide variant	NM_006218.4(PIK3CA):c.274C>A (p.Leu92Ile)	Cowden syndrome [RCV001034952]	uncertain significance	3	179199099	179199099	Human	1	name
26891019	CV827727	single nucleotide variant	NM_006218.4(PIK3CA):c.2496A>G (p.Arg832=)	Cowden syndrome [RCV001068090]\|Inborn genetic diseases [RCV002429729]	likely benign\|uncertain significance	3	179229272	179229272	Human	2	name
38475242	CV931839	single nucleotide variant	NM_006218.4(PIK3CA):c.175C>T (p.His59Tyr)	Cowden syndrome [RCV001204192]\|Inborn genetic diseases [RCV004649484]	uncertain significance	3	179199000	179199000	Human	2	name
38478850	CV931840	single nucleotide variant	NM_006218.4(PIK3CA):c.176A>C (p.His59Pro)	Cowden syndrome [RCV001205732]	uncertain significance	3	179199001	179199001	Human	1	name
38487917	CV943422	single nucleotide variant	NM_006218.4(PIK3CA):c.1026C>G (p.Thr342=)	Cowden syndrome [RCV001237811]\|Inborn genetic diseases [RCV002379908]	likely benign\|uncertain significance	3	179203756	179203756	Human	2	name
41407236	CV983285	single nucleotide variant	NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)	PIK3CA related overgrowth syndrome [RCV001289462]	pathogenic\|likely pathogenic	3	179199096	179199096	Human	1	name , alternate_id
126729543	CV985855	deletion	NM_006218.4(PIK3CA):c.685del (p.Thr229fs)	Colorectal cancer [RCV001293838]	pathogenic	3	179201406	179201406	Human	2	name
126753114	CV989383	single nucleotide variant	NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)	Cowden syndrome [RCV001307339]\|Inborn genetic diseases [RCV002430117]\|PIK3CA-related disorder [RCV004545194]\|not provided [RCV004692460]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	179229368	179229368	Human	2	name , alternate_id
126747696	CV1004602	single nucleotide variant	NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr)	Cowden syndrome 5 [RCV003130262]\|Cowden syndrome [RCV001315394]\|Inborn genetic diseases [RCV003365322]	uncertain significance	3	179201371	179201371	Human	3	name
126735960	CV1004603	single nucleotide variant	NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val)	Cowden syndrome [RCV001313790]\|Inborn genetic diseases [RCV005385030]	uncertain significance	3	179201388	179201388	Human	2	name
126921069	CV1042074	single nucleotide variant	NM_006218.4(PIK3CA):c.373G>A (p.Val125Met)	Cowden syndrome [RCV001374178]	uncertain significance	3	179199710	179199710	Human	1	name
127273417	CV1092254	single nucleotide variant	NM_006218.4(PIK3CA):c.3042A>G (p.Gln1014=)	Cowden syndrome [RCV001442517]\|Inborn genetic diseases [RCV002449195]	likely benign	3	179234199	179234199	Human	2	name
127266055	CV1092255	single nucleotide variant	NM_006218.4(PIK3CA):c.3081C>G (p.Ala1027=)	Cowden syndrome [RCV001440145]\|Inborn genetic diseases [RCV002319715]	likely benign	3	179234238	179234238	Human	2	name
127307325	CV1113782	single nucleotide variant	NM_006218.4(PIK3CA):c.548A>G (p.Asn183Ser)	Cowden syndrome [RCV001462984]	likely benign	3	179199885	179199885	Human	1	name
127307506	CV1134670	single nucleotide variant	NM_006218.4(PIK3CA):c.895A>G (p.Met299Val)	Cowden syndrome [RCV001500497]	likely benign	3	179203625	179203625	Human	1	name
127286106	CV1161768	single nucleotide variant	NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)	CLAPO syndrome [RCV000709696]\|MACRODACTYLY, SOMATIC [RCV000709695]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001526501]\|PIK3CA related overgrowth syndrome [RCV003458229]\|PIK3CA-related disorder [RCV00 ... (more) 2280185]	pathogenic\|likely pathogenic	3	179199169	179199169	Human	2	name , alternate_id
150468362	CV1241890	single nucleotide variant	NM_006218.4(PIK3CA):c.320A>G (p.Asn107Ser)	Cowden syndrome 5 [RCV001650492]	uncertain significance	3	179199145	179199145	Human	1	name
150465461	CV1268614	insertion	NM_006218.4(PIK3CA):c.814-77_814-76insAATA	not provided [RCV001694310]	benign	3	179203465	179203466	Human		name
150461133	CV1275917	deletion	NM_006218.4(PIK3CA):c.2295-218_2295-216del	not provided [RCV001709855]	benign	3	179224482	179224484	Human		name
150549049	CV1294926	deletion	NM_006218.4(PIK3CA):c.1321del (p.Met441fs)	not provided [RCV001764887]	uncertain significance	3	179210251	179210251	Human		name
151851645	CV1349659	single nucleotide variant	NM_006218.4(PIK3CA):c.863T>C (p.Met288Thr)	Cowden syndrome [RCV001958074]\|Inborn genetic diseases [RCV002370577]	uncertain significance	3	179203593	179203593	Human	2	name
151862069	CV1354018	single nucleotide variant	NM_006218.4(PIK3CA):c.928C>T (p.Arg310Cys)	Cowden syndrome [RCV001959346]	uncertain significance	3	179203658	179203658	Human	1	name
151840107	CV1391356	single nucleotide variant	NM_006218.4(PIK3CA):c.389T>C (p.Met130Thr)	Cowden syndrome [RCV001977583]\|Inborn genetic diseases [RCV002361330]	uncertain significance	3	179199726	179199726	Human	2	name
151889166	CV1402587	single nucleotide variant	NM_006218.4(PIK3CA):c.422G>A (p.Arg141Lys)	Cowden syndrome [RCV001942741]	uncertain significance	3	179199759	179199759	Human	1	name
151772201	CV1402622	single nucleotide variant	NM_006218.4(PIK3CA):c.835C>T (p.Leu279Phe)	Cowden syndrome [RCV001896449]\|Inborn genetic diseases [RCV002440983]	uncertain significance	3	179203565	179203565	Human	2	name
151721365	CV1421712	single nucleotide variant	NM_006218.4(PIK3CA):c.719A>C (p.Lys240Thr)	Cowden syndrome [RCV001909780]	uncertain significance	3	179201446	179201446	Human	1	name
151884405	CV1432413	single nucleotide variant	NM_006218.4(PIK3CA):c.311C>G (p.Pro104Arg)	Cowden syndrome [RCV002000267]	uncertain significance	3	179199136	179199136	Human	1	name
151825078	CV1478413	single nucleotide variant	NM_006218.4(PIK3CA):c.463G>C (p.Asp155His)	Cowden syndrome [RCV002030264]	uncertain significance	3	179199800	179199800	Human	1	name
151763717	CV1499379	single nucleotide variant	NM_006218.4(PIK3CA):c.814T>C (p.Tyr272His)	Cowden syndrome [RCV001863389]	uncertain significance	3	179203544	179203544	Human	1	name
152125447	CV1532341	single nucleotide variant	NM_006218.4(PIK3CA):c.3060A>G (p.Ala1020=)	Cowden syndrome [RCV002118394]\|Inborn genetic diseases [RCV002443225]	likely benign	3	179234217	179234217	Human	2	name
152103209	CV1560610	single nucleotide variant	NM_006218.4(PIK3CA):c.3009A>G (p.Ser1003=)	Cowden syndrome [RCV002152059]	likely benign	3	179234166	179234166	Human	1	name
152128913	CV1583818	single nucleotide variant	NM_006218.4(PIK3CA):c.3138A>C (p.Ala1046=)	Cowden syndrome [RCV002199062]\|Inborn genetic diseases [RCV002325702]	likely benign	3	179234295	179234295	Human	2	name
152059731	CV1627813	single nucleotide variant	NM_006218.4(PIK3CA):c.3144T>C (p.His1048=)	Cowden syndrome [RCV002190380]\|Inborn genetic diseases [RCV002324542]	likely benign	3	179234301	179234301	Human	2	name
9589569	CV166218	single nucleotide variant	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	Angioosteohypertrophic syndrome [RCV002254279]\|Cowden syndrome 5 [RCV000144506]\|Cowden syndrome [RCV002512561]\|Keratoacanthoma [RCV001849317]\|PIK3CA related overgrowth syndrome [RCV004719712]\|not provided [RCV001726000]	pathogenic\|likely pathogenic	3	179199690	179199690	Human	6	name , alternate_id
9589570	CV166219	single nucleotide variant	NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys)	Cowden syndrome 5 [RCV000144507]	pathogenic	3	179199740	179199740	Human	1	name
9589571	CV166220	single nucleotide variant	NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys)	Cowden syndrome 5 [RCV000144508]	pathogenic	3	179201379	179201379	Human	1	name
152156908	CV1668819	single nucleotide variant	NM_006218.4(PIK3CA):c.317G>A (p.Gly106Asp)	not specified [RCV002223045]	uncertain significance	3	179199142	179199142	Human		name
155265186	CV1695901	single nucleotide variant	NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)	Cowden syndrome [RCV003096320]\|PIK3CA related overgrowth syndrome [RCV003458242]\|not provided [RCV002280087]	pathogenic\|likely pathogenic\|uncertain significance	3	179199169	179199169	Human	2	name , alternate_id
155642223	CV1707285	single nucleotide variant	NM_006218.4(PIK3CA):c.316G>A (p.Gly106Ser)	not provided [RCV002288215]	uncertain significance	3	179199141	179199141	Human		name
155715743	CV1784996	single nucleotide variant	NM_006218.4(PIK3CA):c.3096G>A (p.Glu1032=)	Inborn genetic diseases [RCV002325856]	likely benign	3	179234253	179234253	Human	1	name
155716274	CV1785138	single nucleotide variant	NM_006218.4(PIK3CA):c.3102G>A (p.Glu1034=)	Inborn genetic diseases [RCV002325998]	likely benign	3	179234259	179234259	Human	1	name
155700789	CV1788197	single nucleotide variant	NM_006218.4(PIK3CA):c.3183A>G (p.Thr1061=)	Inborn genetic diseases [RCV002322765]	likely benign	3	179234340	179234340	Human	1	name
155701025	CV1788233	single nucleotide variant	NM_006218.4(PIK3CA):c.3186T>C (p.Ile1062=)	Inborn genetic diseases [RCV002322801]	likely benign	3	179234343	179234343	Human	1	name
155702057	CV1788389	single nucleotide variant	NM_006218.4(PIK3CA):c.3199T>C (p.Leu1067=)	Inborn genetic diseases [RCV002322933]	likely benign	3	179234356	179234356	Human	1	name
155701719	CV1791328	single nucleotide variant	NM_006218.4(PIK3CA):c.439T>G (p.Cys147Gly)	Inborn genetic diseases [RCV002333714]	uncertain significance	3	179199776	179199776	Human	1	name
155700707	CV1791945	single nucleotide variant	NM_006218.4(PIK3CA):c.3180C>T (p.His1060=)	Cowden syndrome [RCV003099270]\|Inborn genetic diseases [RCV002322748]	likely benign	3	179234337	179234337	Human	2	name
155744579	CV1793218	single nucleotide variant	NM_006218.4(PIK3CA):c.364G>A (p.Gly122Ser)	Inborn genetic diseases [RCV002346645]	uncertain significance	3	179199701	179199701	Human	1	name
155697310	CV1794040	single nucleotide variant	NM_006218.4(PIK3CA):c.400C>G (p.Pro134Ala)	Inborn genetic diseases [RCV002375705]	uncertain significance	3	179199737	179199737	Human	1	name
155716657	CV1794623	single nucleotide variant	NM_006218.4(PIK3CA):c.3111G>A (p.Glu1037=)	Inborn genetic diseases [RCV002326095]	likely benign	3	179234268	179234268	Human	1	name
155716807	CV1794658	single nucleotide variant	NM_006218.4(PIK3CA):c.3114T>C (p.Tyr1038=)	Inborn genetic diseases [RCV002326130]	likely benign	3	179234271	179234271	Human	1	name
155691371	CV1794682	single nucleotide variant	NM_006218.4(PIK3CA):c.3117C>T (p.Phe1039=)	Inborn genetic diseases [RCV002320446]	likely benign	3	179234274	179234274	Human	1	name
155688952	CV1803921	single nucleotide variant	NM_006218.4(PIK3CA):c.596C>A (p.Ser199Tyr)	Cowden syndrome [RCV003588824]\|Inborn genetic diseases [RCV002356075]	uncertain significance	3	179201323	179201323	Human	2	name
155738204	CV1805060	single nucleotide variant	NM_006218.4(PIK3CA):c.457C>A (p.Leu153Ile)	Inborn genetic diseases [RCV002342184]	uncertain significance	3	179199794	179199794	Human	1	name
155738227	CV1805068	single nucleotide variant	NM_006218.4(PIK3CA):c.457C>T (p.Leu153Phe)	Cowden syndrome [RCV005096601]\|Inborn genetic diseases [RCV002342192]	uncertain significance	3	179199794	179199794	Human	2	name
155731298	CV1808579	single nucleotide variant	NM_006218.4(PIK3CA):c.451G>C (p.Val151Leu)	Inborn genetic diseases [RCV002339991]	uncertain significance	3	179199788	179199788	Human	1	name
155680677	CV1812696	single nucleotide variant	NM_006218.4(PIK3CA):c.722T>A (p.Leu241His)	Inborn genetic diseases [RCV002371009]	uncertain significance	3	179201449	179201449	Human	1	name
155709122	CV1814043	single nucleotide variant	NM_006218.4(PIK3CA):c.832A>G (p.Met278Val)	Inborn genetic diseases [RCV002430451]	uncertain significance	3	179203562	179203562	Human	1	name
155731399	CV1814318	single nucleotide variant	NM_006218.4(PIK3CA):c.839G>A (p.Gly280Glu)	Inborn genetic diseases [RCV002434885]	uncertain significance	3	179203569	179203569	Human	1	name
155690031	CV1814592	single nucleotide variant	NM_006218.4(PIK3CA):c.881A>G (p.Tyr294Cys)	Inborn genetic diseases [RCV002373750]	uncertain significance	3	179203611	179203611	Human	1	name
155690471	CV1814691	single nucleotide variant	NM_006218.4(PIK3CA):c.884C>G (p.Ser295Cys)	Inborn genetic diseases [RCV002373820]	uncertain significance	3	179203614	179203614	Human	1	name
155714104	CV1815220	single nucleotide variant	NM_006218.4(PIK3CA):c.683A>G (p.Lys228Arg)	Inborn genetic diseases [RCV002362058]	uncertain significance	3	179201410	179201410	Human	1	name
155747116	CV1816646	single nucleotide variant	NM_006218.4(PIK3CA):c.788A>G (p.Glu263Gly)	Cowden syndrome [RCV003120964]\|Inborn genetic diseases [RCV002416574]	likely benign\|uncertain significance	3	179201515	179201515	Human	2	name
155742712	CV1816913	single nucleotide variant	NM_006218.4(PIK3CA):c.821G>T (p.Arg274Ile)	Inborn genetic diseases [RCV002412512]	uncertain significance	3	179203551	179203551	Human	1	name
155697361	CV1820439	single nucleotide variant	NM_006218.4(PIK3CA):c.817A>C (p.Ile273Leu)	Inborn genetic diseases [RCV002427799]	uncertain significance	3	179203547	179203547	Human	1	name
155714384	CV1820785	single nucleotide variant	NM_006218.4(PIK3CA):c.857T>C (p.Met286Thr)	Inborn genetic diseases [RCV002447903]	uncertain significance	3	179203587	179203587	Human	1	name
155700546	CV1821095	single nucleotide variant	NM_006218.4(PIK3CA):c.900C>G (p.Asp300Glu)	Inborn genetic diseases [RCV002376377]	uncertain significance	3	179203630	179203630	Human	1	name
155692170	CV1821545	single nucleotide variant	NM_006218.4(PIK3CA):c.950A>G (p.Tyr317Cys)	Inborn genetic diseases [RCV002374165]	uncertain significance	3	179203680	179203680	Human	1	name
155668871	CV1821986	single nucleotide variant	NM_006218.4(PIK3CA):c.668A>G (p.Glu223Gly)	Inborn genetic diseases [RCV002367058]	uncertain significance	3	179201395	179201395	Human	1	name
155707884	CV1822287	single nucleotide variant	NM_006218.4(PIK3CA):c.698T>C (p.Leu233Ser)	Inborn genetic diseases [RCV002378196]	uncertain significance	3	179201425	179201425	Human	1	name
155684284	CV1824840	single nucleotide variant	NM_006218.4(PIK3CA):c.932T>G (p.Ile311Ser)	Inborn genetic diseases [RCV002371638]	uncertain significance	3	179203662	179203662	Human	1	name
155730070	CV1825731	single nucleotide variant	NM_006218.4(PIK3CA):c.995G>C (p.Ser332Thr)	Inborn genetic diseases [RCV002382948]	uncertain significance	3	179203725	179203725	Human	1	name
155674693	CV1828834	single nucleotide variant	NM_006218.4(PIK3CA):c.985G>T (p.Val329Phe)	Inborn genetic diseases [RCV002387333]	uncertain significance	3	179203715	179203715	Human	1	name
155696665	CV1854722	single nucleotide variant	NM_006218.4(PIK3CA):c.3039A>G (p.Leu1013=)	Inborn genetic diseases [RCV002443959]	likely benign	3	179234196	179234196	Human	1	name
155697437	CV1854886	single nucleotide variant	NM_006218.4(PIK3CA):c.3051T>C (p.Asp1017=)	Inborn genetic diseases [RCV002444124]	likely benign	3	179234208	179234208	Human	1	name
155698025	CV1854979	single nucleotide variant	NM_006218.4(PIK3CA):c.3060A>T (p.Ala1020=)	Inborn genetic diseases [RCV002444217]	likely benign	3	179234217	179234217	Human	1	name
156369503	CV1887893	single nucleotide variant	NM_006218.4(PIK3CA):c.3198A>T (p.Ala1066=)	Cowden syndrome [RCV003092307]	likely benign	3	179234355	179234355	Human	1	name
156024598	CV1922357	single nucleotide variant	NM_006218.4(PIK3CA):c.466C>G (p.Leu156Val)	Cowden syndrome [RCV002636878]	uncertain significance	3	179199803	179199803	Human	1	name
155909276	CV2027860	single nucleotide variant	NM_006218.4(PIK3CA):c.971C>T (p.Thr324Ile)	Cowden syndrome [RCV002726681]	uncertain significance	3	179203701	179203701	Human	1	name
156323695	CV2053926	single nucleotide variant	NM_006218.4(PIK3CA):c.449C>T (p.Ala150Val)	Cowden syndrome [RCV002810249]	uncertain significance	3	179199786	179199786	Human	1	name
156033606	CV2059270	single nucleotide variant	NM_006218.4(PIK3CA):c.396A>C (p.Lys132Asn)	Cowden syndrome [RCV002796157]	uncertain significance	3	179199733	179199733	Human	1	name
155911554	CV2069552	single nucleotide variant	NM_006218.4(PIK3CA):c.649C>T (p.Pro217Ser)	Cowden syndrome [RCV002837757]	uncertain significance	3	179201376	179201376	Human	1	name
156313739	CV2089447	single nucleotide variant	NM_006218.4(PIK3CA):c.952A>G (p.Met318Val)	Cowden syndrome [RCV002898866]	uncertain significance	3	179203682	179203682	Human	1	name
155913926	CV2091574	single nucleotide variant	NM_006218.4(PIK3CA):c.493T>C (p.Tyr165His)	Cowden syndrome [RCV002902957]	uncertain significance	3	179199830	179199830	Human	1	name
156267254	CV2097157	single nucleotide variant	NM_006218.4(PIK3CA):c.3024T>C (p.Ser1008=)	Cowden syndrome [RCV002877482]\|Inborn genetic diseases [RCV004065947]	likely benign	3	179234181	179234181	Human	2	name
156376405	CV2124164	single nucleotide variant	NM_006218.4(PIK3CA):c.851A>G (p.Asn284Ser)	Cowden syndrome [RCV002942754]\|Inborn genetic diseases [RCV004958864]	uncertain significance	3	179203581	179203581	Human	2	name
10407297	CV213941	single nucleotide variant	NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)	Cowden syndrome [RCV001221647]\|PIK3CA related overgrowth syndrome [RCV000201238]\|PIK3CA-related disorder [RCV004737318]\|not provided [RCV002254285]	pathogenic\|likely pathogenic	3	179199136	179199136	Human	2	name , alternate_id
156023849	CV2141503	single nucleotide variant	NM_006218.4(PIK3CA):c.481A>G (p.Ser161Gly)	Cowden syndrome [RCV002976286]	uncertain significance	3	179199818	179199818	Human	1	name
10449592	CV214867	single nucleotide variant	NM_006218.4(PIK3CA):c.335T>A (p.Ile112Asn)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV000202414]	pathogenic	3	179199160	179199160	Human	1	name
156152579	CV2150563	single nucleotide variant	NM_006218.4(PIK3CA):c.314T>C (p.Val105Ala)	Cowden syndrome [RCV003022903]	uncertain significance	3	179199139	179199139	Human	1	name
156305985	CV2157373	single nucleotide variant	NM_006218.4(PIK3CA):c.932T>C (p.Ile311Thr)	Cowden syndrome [RCV003028325]	uncertain significance	3	179203662	179203662	Human	1	name
156379543	CV2178919	single nucleotide variant	NM_006218.4(PIK3CA):c.847C>G (p.Pro283Ala)	Cowden syndrome [RCV003050379]	uncertain significance	3	179203577	179203577	Human	1	name
156101904	CV2386814	single nucleotide variant	NM_006218.4(PIK3CA):c.901T>G (p.Cys301Gly)	Inborn genetic diseases [RCV002739158]	uncertain significance	3	179203631	179203631	Human	1	name
329366762	CV2426837	single nucleotide variant	NM_006218.4(PIK3CA):c.425A>G (p.Asn142Ser)	Inborn genetic diseases [RCV003182897]	uncertain significance	3	179199762	179199762	Human	1	name
329366770	CV2426841	single nucleotide variant	NM_006218.4(PIK3CA):c.3105T>C (p.Ala1035=)	Inborn genetic diseases [RCV003182901]	likely benign	3	179234262	179234262	Human	1	name
329366994	CV2426849	single nucleotide variant	NM_006218.4(PIK3CA):c.862A>C (p.Met288Leu)	Inborn genetic diseases [RCV003182909]	uncertain significance	3	179203592	179203592	Human	1	name
11525576	CV245294	single nucleotide variant	NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val)	Cowden syndrome [RCV000235809]	uncertain significance	3	179199698	179199698	Human	1	name
329394225	CV2472390	single nucleotide variant	NM_006218.4(PIK3CA):c.973A>G (p.Lys325Glu)	Inborn genetic diseases [RCV003218686]	uncertain significance	3	179203703	179203703	Human	1	name
329394870	CV2472963	single nucleotide variant	NM_006218.4(PIK3CA):c.361A>C (p.Ile121Leu)	not provided [RCV003218946]	uncertain significance	3	179199698	179199698	Human		name
11634203	CV264121	single nucleotide variant	NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)	Cowden syndrome [RCV001859541]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001353357]\|See cases [RCV002287404]\|not provided [RCV000404833]\|not specified [RCV001195259]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	179199148	179199148	Human	2	name
401764799	CV2728084	single nucleotide variant	NM_006218.4(PIK3CA):c.896T>C (p.Met299Thr)	Inborn genetic diseases [RCV003301040]	uncertain significance	3	179203626	179203626	Human	1	name
401756127	CV2729204	single nucleotide variant	NM_006218.4(PIK3CA):c.350T>C (p.Ile117Thr)	Inborn genetic diseases [RCV003278647]	uncertain significance	3	179199175	179199175	Human	1	name
401719448	CV2729217	single nucleotide variant	NM_006218.4(PIK3CA):c.864G>A (p.Met288Ile)	Inborn genetic diseases [RCV003311395]	uncertain significance	3	179203594	179203594	Human	1	name
401883058	CV2763846	single nucleotide variant	NM_006218.4(PIK3CA):c.958G>A (p.Gly320Arg)	Inborn genetic diseases [RCV003350718]	uncertain significance	3	179203688	179203688	Human	1	name
401869531	CV2763852	single nucleotide variant	NM_006218.4(PIK3CA):c.325G>A (p.Glu109Lys)	Inborn genetic diseases [RCV003360918]	uncertain significance	3	179199150	179199150	Human	1	name
405176407	CV2889041	single nucleotide variant	NM_006218.4(PIK3CA):c.3087T>C (p.Asp1029=)	Cowden syndrome [RCV003588147]	likely benign	3	179234244	179234244	Human	1	name
405133901	CV3002285	single nucleotide variant	NM_006218.4(PIK3CA):c.586G>T (p.Val196Leu)	Cowden syndrome [RCV003754506]	uncertain significance	3	179201313	179201313	Human	1	name
405117959	CV3025925	single nucleotide variant	NM_006218.4(PIK3CA):c.451G>A (p.Val151Met)	Cowden syndrome [RCV003752626]	uncertain significance	3	179199788	179199788	Human	1	name
405288717	CV3193748	single nucleotide variant	NM_006218.4(PIK3CA):c.592G>A (p.Val198Ile)	PIK3CA-related disorder [RCV004542659]	uncertain significance	3	179201319	179201319	Human		name , trait , alternate_id
405722271	CV3381091	single nucleotide variant	NM_006218.4(PIK3CA):c.3057T>C (p.Ile1019=)	Inborn genetic diseases [RCV004524012]	likely benign	3	179234214	179234214	Human	1	name
405722310	CV3381096	single nucleotide variant	NM_006218.4(PIK3CA):c.465C>A (p.Asp155Glu)	Inborn genetic diseases [RCV004524017]	uncertain significance	3	179199802	179199802	Human	1	name
405722341	CV3381100	single nucleotide variant	NM_006218.4(PIK3CA):c.673A>G (p.Ile225Val)	Inborn genetic diseases [RCV004524021]	uncertain significance	3	179201400	179201400	Human	1	name
405722352	CV3381101	single nucleotide variant	NM_006218.4(PIK3CA):c.688C>G (p.Arg230Gly)	Inborn genetic diseases [RCV004524022]	uncertain significance	3	179201415	179201415	Human	1	name
405722381	CV3381105	single nucleotide variant	NM_006218.4(PIK3CA):c.809A>G (p.Tyr270Cys)	Inborn genetic diseases [RCV004524026]	uncertain significance	3	179201536	179201536	Human	1	name
405722386	CV3381106	single nucleotide variant	NM_006218.4(PIK3CA):c.834G>A (p.Met278Ile)	Inborn genetic diseases [RCV004524027]\|not provided [RCV004767563]	uncertain significance	3	179203564	179203564	Human	1	name
405722413	CV3381109	single nucleotide variant	NM_006218.4(PIK3CA):c.965C>G (p.Thr322Arg)	Inborn genetic diseases [RCV004524030]	uncertain significance	3	179203695	179203695	Human	1	name
407426678	CV3411478	single nucleotide variant	NM_006218.4(PIK3CA):c.697T>G (p.Leu233Val)	not provided [RCV004590656]	uncertain significance	3	179201424	179201424	Human		name
407511975	CV3463561	single nucleotide variant	NM_006218.4(PIK3CA):c.949T>C (p.Tyr317His)	Inborn genetic diseases [RCV004648228]	uncertain significance	3	179203679	179203679	Human	1	name
407511977	CV3463562	single nucleotide variant	NM_006218.4(PIK3CA):c.3105T>G (p.Ala1035=)	Inborn genetic diseases [RCV004648229]	likely benign	3	179234262	179234262	Human	1	name
407511979	CV3463563	single nucleotide variant	NM_006218.4(PIK3CA):c.767G>C (p.Gly256Ala)	Inborn genetic diseases [RCV004648230]	uncertain significance	3	179201494	179201494	Human	1	name
407511982	CV3463564	single nucleotide variant	NM_006218.4(PIK3CA):c.400C>A (p.Pro134Thr)	Inborn genetic diseases [RCV004648231]	uncertain significance	3	179199737	179199737	Human	1	name
407530728	CV3463565	single nucleotide variant	NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)	Familial cancer of breast [RCV005023617]\|Inborn genetic diseases [RCV004657205]	uncertain significance	3	179199139	179199139	Human	10	name
407530729	CV3463566	single nucleotide variant	NM_006218.4(PIK3CA):c.3168T>C (p.Asp1056=)	Inborn genetic diseases [RCV004657206]	likely benign	3	179234325	179234325	Human	1	name
407511997	CV3463575	single nucleotide variant	NM_006218.4(PIK3CA):c.643T>C (p.Cys215Arg)	Inborn genetic diseases [RCV004648237]	uncertain significance	3	179201370	179201370	Human	1	name
407530738	CV3463576	single nucleotide variant	NM_006218.4(PIK3CA):c.593T>G (p.Val198Gly)	Inborn genetic diseases [RCV004657210]	uncertain significance	3	179201320	179201320	Human	1	name
407530745	CV3463584	single nucleotide variant	NM_006218.4(PIK3CA):c.464A>G (p.Asp155Gly)	Inborn genetic diseases [RCV004657214]	uncertain significance	3	179199801	179199801	Human	1	name
407530750	CV3463588	single nucleotide variant	NM_006218.4(PIK3CA):c.3106T>C (p.Leu1036=)	Cowden syndrome [RCV005102370]\|Inborn genetic diseases [RCV004657217]	likely benign	3	179234263	179234263	Human	2	name
407530751	CV3463592	single nucleotide variant	NM_006218.4(PIK3CA):c.541A>G (p.Ile181Val)	Inborn genetic diseases [RCV004657218]	uncertain significance	3	179199878	179199878	Human	1	name
408382464	CV3503325	single nucleotide variant	NM_006218.4(PIK3CA):c.337C>T (p.Leu113Phe)	PIK3CA-related disorder [RCV004729910]	uncertain significance	3	179199162	179199162	Human		name , trait , alternate_id
408369224	CV3507926	single nucleotide variant	NM_006218.4(PIK3CA):c.758A>C (p.Lys253Thr)	PIK3CA-related disorder [RCV004736742]	uncertain significance	3	179201485	179201485	Human		name , trait , alternate_id
408394432	CV3518235	single nucleotide variant	NM_006218.4(PIK3CA):c.316G>T (p.Gly106Cys)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV004759558]	likely pathogenic	3	179199141	179199141	Human	1	name
597716057	CV3579710	single nucleotide variant	NM_006218.4(PIK3CA):c.340A>T (p.Asn114Tyr)	Inborn genetic diseases [RCV004959801]	uncertain significance	3	179199165	179199165	Human	1	name
597716125	CV3579718	single nucleotide variant	NM_006218.4(PIK3CA):c.3108G>A (p.Leu1036=)	Inborn genetic diseases [RCV004959809]	likely benign	3	179234265	179234265	Human	1	name
597716154	CV3579723	single nucleotide variant	NM_006218.4(PIK3CA):c.985G>A (p.Val329Ile)	Inborn genetic diseases [RCV004959813]	uncertain significance	3	179203715	179203715	Human	1	name
597716274	CV3579741	single nucleotide variant	NM_006218.4(PIK3CA):c.667G>A (p.Glu223Lys)	Inborn genetic diseases [RCV004959829]	uncertain significance	3	179201394	179201394	Human	1	name
597716302	CV3579745	single nucleotide variant	NM_006218.4(PIK3CA):c.516A>C (p.Glu172Asp)	Inborn genetic diseases [RCV004959833]	uncertain significance	3	179199853	179199853	Human	1	name
597716316	CV3579747	single nucleotide variant	NM_006218.4(PIK3CA):c.591A>G (p.Ile197Met)	Inborn genetic diseases [RCV004959835]	uncertain significance	3	179201318	179201318	Human	1	name
597716331	CV3579749	single nucleotide variant	NM_006218.4(PIK3CA):c.518C>G (p.Ser173Cys)	Inborn genetic diseases [RCV004959837]	uncertain significance	3	179199855	179199855	Human	1	name
597716356	CV3579754	single nucleotide variant	NM_006218.4(PIK3CA):c.937A>G (p.Thr313Ala)	Inborn genetic diseases [RCV004959841]	uncertain significance	3	179203667	179203667	Human	1	name
597716367	CV3579756	single nucleotide variant	NM_006218.4(PIK3CA):c.956A>T (p.Asn319Ile)	Inborn genetic diseases [RCV004959843]	uncertain significance	3	179203686	179203686	Human	1	name
597716425	CV3579766	single nucleotide variant	NM_006218.4(PIK3CA):c.919T>C (p.Tyr307His)	Inborn genetic diseases [RCV004959852]	uncertain significance	3	179203649	179203649	Human	1	name
597716432	CV3579767	single nucleotide variant	NM_006218.4(PIK3CA):c.943A>G (p.Thr315Ala)	Inborn genetic diseases [RCV004959853]	uncertain significance	3	179203673	179203673	Human	1	name
597716469	CV3579774	single nucleotide variant	NM_006218.4(PIK3CA):c.905T>C (p.Phe302Ser)	Inborn genetic diseases [RCV004959859]	uncertain significance	3	179203635	179203635	Human	1	name
12835696	CV363358	single nucleotide variant	NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	CLOVES syndrome [RCV001526649]\|Cowden syndrome [RCV000631208]\|PIK3CA related overgrowth syndrome [RCV004719813]	pathogenic\|likely pathogenic\|uncertain significance	3	179199142	179199142	Human	3	name , alternate_id
12838037	CV363359	single nucleotide variant	NM_006218.4(PIK3CA):c.316G>C (p.Gly106Arg)	Malignant neoplasm of body of uterus [RCV000427806]\|Neoplasm of the large intestine [RCV000442359]\|Neoplasm of uterine cervix [RCV000443103]\|Squamous cell lung carcinoma [RCV000433718]\|Transitional cell carcinoma of the bladder [RCV000433470]\|Uterine carcinosarcoma [RCV000426242]	likely pathogenic	3	179199141	179199141	Human	3	name
12835167	CV363361	single nucleotide variant	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	Cowden syndrome 5 [RCV003147452]\|PIK3CA related overgrowth syndrome [RCV005251125]	pathogenic\|likely pathogenic\|uncertain significance	3	179199156	179199156	Human	2	name , alternate_id
12834827	CV363362	single nucleotide variant	NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)	Cowden syndrome [RCV002521505]	likely pathogenic\|uncertain significance	3	179199158	179199158	Human	1	name
12834329	CV363363	single nucleotide variant	NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	Breast neoplasm [RCV000426788]\|Gastric adenocarcinoma [RCV000424501]\|Glioblastoma [RCV000437845]\|Lung adenocarcinoma [RCV000423063]\|Malignant neoplasm of body of uterus [RCV000443132]\|Multiple myeloma [RCV000433335]\|Neoplasm of brain [RCV000443094]\|Neoplasm of the large intestine [RCV000438066]\|Neop ... (more) lasm of uterine cervix [RCV000417780]\|Neuroblastoma [RCV000442310]\|Squamous cell carcinoma of the head and neck [RCV000427854]	likely pathogenic	3	179199157	179199157	Human	8	name
597967169	CV3855741	single nucleotide variant	NM_006218.4(PIK3CA):c.512T>C (p.Val171Ala)	Cowden syndrome [RCV005194721]	uncertain significance	3	179199849	179199849	Human	1	name
598126708	CV3882163	single nucleotide variant	NM_006218.4(PIK3CA):c.589A>G (p.Ile197Val)	not provided [RCV005233714]	uncertain significance	3	179201316	179201316	Human		name
598221503	CV3892022	single nucleotide variant	NM_006218.4(PIK3CA):c.333G>T (p.Lys111Asn)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV005253361]	likely pathogenic	3	179199158	179199158	Human	1	name
12888115	CV393361	single nucleotide variant	NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser)	Cowden syndrome [RCV000470301]\|Familial cancer of breast [RCV005033964]\|not provided [RCV003437203]	uncertain significance	3	179199166	179199166	Human	10	name
12891460	CV393584	single nucleotide variant	NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp)	Cowden syndrome [RCV000476644]	uncertain significance	3	179199152	179199152	Human	1	name
12889491	CV393599	single nucleotide variant	NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu)	Cowden syndrome [RCV000472843]\|PIK3CA-related disorder [RCV004529581]	uncertain significance	3	179199813	179199813	Human	1	name , alternate_id
12884589	CV393782	single nucleotide variant	NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr)	Cowden syndrome [RCV000463724]\|Inborn genetic diseases [RCV004022543]	uncertain significance	3	179201491	179201491	Human	2	name
12880989	CV393804	single nucleotide variant	NM_006218.4(PIK3CA):c.3198A>G (p.Ala1066=)	Cowden syndrome [RCV000457043]\|Inborn genetic diseases [RCV002323761]	likely benign	3	179234355	179234355	Human	2	name
598272595	CV4006644	single nucleotide variant	NM_006218.4(PIK3CA):c.895A>T (p.Met299Leu)	Inborn genetic diseases [RCV005389424]	uncertain significance	3	179203625	179203625	Human	1	name
598272605	CV4006648	single nucleotide variant	NM_006218.4(PIK3CA):c.476C>G (p.Pro159Arg)	Inborn genetic diseases [RCV005389427]	uncertain significance	3	179199813	179199813	Human	1	name
616933576	CV4013569	single nucleotide variant	NM_006218.4(PIK3CA):c.322C>T (p.Arg108Cys)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV005411111]	likely pathogenic	3	179199147	179199147	Human	1	name
12893633	CV406152	duplication	NM_006218.4(PIK3CA):c.2646dup (p.Asp883fs)	not provided [RCV000479649]	pathogenic	3	179229419	179229420	Human		name
13471481	CV443384	single nucleotide variant	NM_006218.4(PIK3CA):c.485G>A (p.Arg162Lys)	not provided [RCV000518870]	uncertain significance	3	179199822	179199822	Human		name
13469516	CV452153	single nucleotide variant	NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser)	Cowden syndrome [RCV000545394]	uncertain significance	3	179199737	179199737	Human	1	name
13496852	CV452420	single nucleotide variant	NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe)	Cowden syndrome [RCV000560641]	uncertain significance	3	179199803	179199803	Human	1	name
13612278	CV513940	single nucleotide variant	NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)	Corpus callosum, agenesis of [RCV000626895]\|Cowden syndrome [RCV000695314]	uncertain significance	3	179201469	179201469	Human	6	name
13613485	CV518965	single nucleotide variant	NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val)	Cowden syndrome [RCV000631213]	uncertain significance	3	179203661	179203661	Human	1	name
13613494	CV518968	single nucleotide variant	NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile)	Cowden syndrome [RCV000631218]\|Inborn genetic diseases [RCV003162796]	uncertain significance	3	179203725	179203725	Human	2	name
13613482	CV518989	single nucleotide variant	NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly)	Cowden syndrome [RCV000631211]\|Inborn genetic diseases [RCV002358757]	uncertain significance	3	179199723	179199723	Human	2	name
13613499	CV519149	single nucleotide variant	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	Cowden syndrome [RCV000631220]\|Familial cancer of breast [RCV000764478]\|not provided [RCV003432657]	uncertain significance	3	179199773	179199773	Human	9	name
13613490	CV519151	single nucleotide variant	NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr)	Cowden syndrome [RCV000631217]\|Inborn genetic diseases [RCV002343198]	uncertain significance	3	179199897	179199897	Human	2	name
8608335	CV54635	single nucleotide variant	NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)	Cowden syndrome 5 [RCV003315570]\|Cowden syndrome [RCV000469313]\|not provided [RCV001541434]\|not specified [RCV000038674]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	179234232	179234232	Human	2	name
13813264	CV558842	single nucleotide variant	NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser)	Cowden syndrome [RCV000704243]	uncertain significance	3	179199807	179199807	Human	1	name
13816107	CV558844	single nucleotide variant	NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser)	Cowden syndrome [RCV000692101]	uncertain significance	3	179201350	179201350	Human	1	name
13813248	CV561265	deletion	NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs)	Cowden syndrome [RCV000690023]	uncertain significance	3	179198853	179198877	Human	1	name
13816527	CV561271	single nucleotide variant	NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)	Cowden syndrome [RCV000692375]\|Inborn genetic diseases [RCV002532213]	likely benign\|uncertain significance	3	179203547	179203547	Human	2	name
13806834	CV561273	single nucleotide variant	NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile)	Cowden syndrome 5 [RCV004698513]\|Cowden syndrome [RCV000700757]\|Inborn genetic diseases [RCV002386241]\|not provided [RCV001759395]	uncertain significance	3	179203684	179203684	Human	3	name
13820111	CV575691	single nucleotide variant	NM_006218.4(PIK3CA):c.500A>G (p.Tyr167Cys)	Hereditary cancer-predisposing syndrome [RCV000708938]\|Inborn genetic diseases [RCV002334399]	uncertain significance	3	179199837	179199837	Human	2	name
13820112	CV575692	single nucleotide variant	NM_006218.4(PIK3CA):c.563G>A (p.Gly188Glu)	Hereditary cancer-predisposing syndrome [RCV000708939]	uncertain significance	3	179201290	179201290	Human	1	name
14710977	CV631049	single nucleotide variant	NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu)	Cowden syndrome [RCV000793301]	uncertain significance	3	179199896	179199896	Human	1	name
14716146	CV631051	single nucleotide variant	NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr)	Cowden syndrome [RCV000795027]\|Inborn genetic diseases [RCV002442631]	uncertain significance	3	179203676	179203676	Human	2	name
15154597	CV748115	single nucleotide variant	NM_006218.4(PIK3CA):c.3150C>A (p.Gly1050=)	not provided [RCV000924291]	likely benign	3	179234307	179234307	Human		name
26920339	CV827721	single nucleotide variant	NM_006218.4(PIK3CA):c.367A>G (p.Met123Val)	Cowden syndrome [RCV001059879]\|Inborn genetic diseases [RCV002451253]	uncertain significance	3	179199704	179199704	Human	2	name
26888900	CV827722	single nucleotide variant	NM_006218.4(PIK3CA):c.997G>T (p.Ala333Ser)	Cowden syndrome [RCV001045429]	uncertain significance	3	179203727	179203727	Human	1	name
26905576	CV827723	single nucleotide variant	NM_006218.4(PIK3CA):c.998C>T (p.Ala333Val)	Cowden syndrome [RCV001037060]\|Inborn genetic diseases [RCV002379485]\|PIK3CA-related disorder [RCV004528345]	uncertain significance	3	179203728	179203728	Human	2	name , alternate_id
26892032	CV827729	single nucleotide variant	NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=)	Cowden syndrome [RCV001068504]	likely benign\|uncertain significance	3	179234283	179234283	Human	1	name
38597889	CV861286	single nucleotide variant	NM_006218.4(PIK3CA):c.452T>C (p.Val151Ala)	Squamous cell lung carcinoma [RCV001250948]	likely pathogenic	3	179199789	179199789	Human	2	name
38477141	CV923098	single nucleotide variant	NM_006218.4(PIK3CA):c.611A>C (p.Lys204Thr)	Cowden syndrome [RCV001215998]\|Inborn genetic diseases [RCV002356920]	uncertain significance	3	179201338	179201338	Human	2	name
38481872	CV923099	single nucleotide variant	NM_006218.4(PIK3CA):c.995G>A (p.Ser332Asn)	Cowden syndrome [RCV001218205]\|Inborn genetic diseases [RCV002379821]	uncertain significance	3	179203725	179203725	Human	2	name
38475118	CV931841	single nucleotide variant	NM_006218.4(PIK3CA):c.635A>G (p.Asn212Ser)	Cowden syndrome [RCV001204133]\|Inborn genetic diseases [RCV002365919]	uncertain significance	3	179201362	179201362	Human	2	name
38475407	CV943421	single nucleotide variant	NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu)	Cowden syndrome [RCV001232623]	uncertain significance	3	179199861	179199861	Human	1	name
40815507	CV970762	single nucleotide variant	NM_006218.4(PIK3CA):c.461G>A (p.Arg154Lys)	CLAPO syndrome [RCV001262943]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV004762038]	uncertain significance	3	179199798	179199798	Human	2	name
40903710	CV976693	deletion	NM_006218.4(PIK3CA):c.2075del (p.Cys692fs)	Glycogen storage disease, type II [RCV001270431]	likely pathogenic	3	179221045	179221045	Human	1	name
126763197	CV989374	single nucleotide variant	NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu)	Cowden syndrome [RCV001300603]	uncertain significance	3	179199126	179199126	Human	1	name
126755790	CV989375	single nucleotide variant	NM_006218.4(PIK3CA):c.586G>A (p.Val196Ile)	Cowden syndrome [RCV001307944]	uncertain significance	3	179201313	179201313	Human	1	name
126748983	CV989376	single nucleotide variant	NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg)	Cowden syndrome [RCV001297045]	uncertain significance	3	179201338	179201338	Human	1	name
126767175	CV989377	single nucleotide variant	NM_006218.4(PIK3CA):c.910A>G (p.Met304Val)	Cowden syndrome [RCV001302181]\|Inborn genetic diseases [RCV002375367]	uncertain significance	3	179203640	179203640	Human	2	name
126756991	CV989378	single nucleotide variant	NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp)	Cowden syndrome [RCV001298752]	uncertain significance	3	179203685	179203685	Human	1	name
8688249	CV138775	single nucleotide variant	NM_006218.4(PIK3CA):c.1837G>A (p.Gly613Ser)	not specified [RCV000121809]	not provided	3	179219661	179219661	Human		name
8688250	CV138776	single nucleotide variant	NM_006218.4(PIK3CA):c.1876G>A (p.Asp626Asn)	not specified [RCV000121810]	not provided	3	179219700	179219700	Human		name
8688251	CV138777	single nucleotide variant	NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)	Cowden syndrome 5 [RCV003315764]\|Cowden syndrome [RCV001517745]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001725125]\|not provided [RCV001682835]\|not specified [RCV000121811]	benign\|not provided	3	179209622	179209622	Human	2	name
8599486	CV28694	single nucleotide variant	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	Abnormal cardiovascular system morphology [RCV001327963]\|Angioosteohypertrophic syndrome [RCV004527293]\|Breast adenocarcinoma [RCV000014631]\|CLOVES syndrome [RCV001262721]\|Carcinoma of colon [RCV000014633]\|Cerebrofacial Vascular Metameric Syndrome (CVMS) [RCV001730473]\|Eccrine angiomatous hamartoma ... (more) [RCV001786329]\|Gallbladder cancer [RCV001374447]\|Gastric cancer [RCV002508125]\|HEMIFACIAL MYOHYPERPLASIA, SOMATIC [RCV003764575]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV000055930]\|Non-small cell lung carcinoma [RCV000038671]\|OVARIAN CANCER, EPITHELIAL, SOMATIC [RCV000014632]\|Ovarian neoplasm [RCV000422210]\|PIK3CA overgrowth syndrome [RCV004698419]\|PIK3CA related overgrowth syndrome [RCV001290591]\|Rare combined vascular malformation [RCV004527295]\|Rare venous malformation [RCV004527294]\|Sarcoma [RCV000119356]\|Seborrheic keratosis [RCV000014636]\|Segmental undergrowth associated with lymphatic malformation [RCV001705591]\|not provided [RCV001092440]	pathogenic\|likely pathogenic\|conflicting data from submitters\|other\|not provided	3	179218303	179218303	Human	20	name , trait , alternate_id
8563829	CV28697	duplication	NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)	Gastric cancer [RCV002508126]\|Hepatocellular carcinoma [RCV000014641]\|PIK3CA related overgrowth syndrome [RCV003458189]	pathogenic\|likely pathogenic\|other	3	179234358	179234359	Human	5	name , alternate_id
597637728	CV3721177	single nucleotide variant	NM_006218.4(PIK3CA):c.2949G>A (p.Met983Ile)	Familial cancer of breast [RCV005024528]	uncertain significance	3	179234106	179234106	Human	9	name
598197947	CV4006646	single nucleotide variant	NM_006218.4(PIK3CA):c.1865A>G (p.Tyr622Cys)	Inborn genetic diseases [RCV005397943]	uncertain significance	3	179219689	179219689	Human	1	name
617154072	CV4022235	single nucleotide variant	NM_006218.4(PIK3CA):c.2593G>A (p.Gly865Ser)	not provided [RCV005429591]	uncertain significance	3	179229369	179229369	Human		name
8602627	CV40609	single nucleotide variant	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	Abnormal cardiovascular system morphology [RCV001327962]\|CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC [RCV001728093]\|CLAPO syndrome [RCV000709693]\|CLOVES syndrome [RCV000024622]\|Cerebrofacial Vascular Metameric Syndrome (CVMS) [RCV001730477]\|Cowden syndrome [RCV002513230]\|HEMIFACIAL MYOHYPERPLASIA, S ... (more) OMATIC [RCV003764635]\|Lip and oral cavity carcinoma [RCV001255687]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV004698785]\|Non-small cell lung carcinoma [RCV000154513]\|Ovarian neoplasm [RCV000151649]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836714]\|PIK3CA related overgrowth syndrome [RCV003458190]\|PIK3CA-related disorder [RCV004532404]\|PIK3CA-related overgrowth [RCV003987334]\|Rare venous malformation [RCV004527296]\|not provided [RCV000416776]	pathogenic\|likely pathogenic\|conflicting data from submitters\|not provided	3	179218294	179218294	Human	11	name , trait , alternate_id
8602628	CV40610	single nucleotide variant	NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	Abnormal cardiovascular system morphology [RCV001327960]\|CLAPO syndrome [RCV000709694]\|CLOVES syndrome [RCV000024623]\|Capillary malformation [RCV001526612]\|Cowden syndrome [RCV003588566]\|Ovarian neoplasm [RCV000154512]\|PIK3CA related overgrowth syndrome [RCV0002 ... (more) 01232]\|Rare combined vascular malformation [RCV004527297]\|Segmental undergrowth associated with lymphatic malformation [RCV001705599]\|not provided [RCV002054475]	pathogenic\|likely pathogenic\|uncertain significance\|conflicting data from submitters	3	179210192	179210192	Human	10	name , alternate_id
8570602	CV48302	single nucleotide variant	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	Abnormal cardiovascular system morphology [RCV001327966]\|Abnormal cerebral morphology [RCV002274888]\|Angioosteohypertrophic syndrome [RCV002254272]\|CLOVES syndrome [RCV004798751]\|Cowden syndrome 5 [RCV001594376]\|Cowden syndrome [RCV001852661]\|Inborn genetic diseases [RCV004955261]\|Megalencephaly-cap ... (more) illary malformation-polymicrogyria syndrome [RCV000032907]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836717]\|PIK3C1-related disorder [RCV005222712]\|PIK3CA related overgrowth syndrome [RCV003233078]\|PIK3CA-related disorder [RCV004737167]\|not provided [RCV000414672]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|other	3	179230077	179230077	Human	10	name , alternate_id
8604327	CV48303	single nucleotide variant	NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	Cowden syndrome [RCV000806643]\|Epidermal nevus [RCV005229840]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV000032908]\|PIK3CA related overgrowth syndrome [RCV000201233]\|PIK3CA-related disorder [RCV0045324 ... (more) 77]\|not provided [RCV005241335]	pathogenic\|other	3	179204576	179204576	Human	4	name , alternate_id
8608331	CV54631	single nucleotide variant	NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	CLOVES syndrome [RCV001256198]\|PIK3CA related overgrowth syndrome [RCV003458192]\|PIK3CA-related disorder [RCV004534818]\|not specified [RCV000038669]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	3	179210186	179210186	Human	2	name , alternate_id
8608333	CV54633	single nucleotide variant	NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)	Abnormal cardiovascular system morphology [RCV001327965]\|Ovarian neoplasm [RCV000038672]\|PIK3CA related overgrowth syndrome [RCV003458193]\|not provided [RCV002254273]	pathogenic\|likely pathogenic	3	179218307	179218307	Human	5	name , alternate_id
8604328	CV48304	single nucleotide variant	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	CLOVES syndrome [RCV002226661]\|Cowden syndrome [RCV000698423]\|Familial cancer of breast [RCV000763508]\|HEMIFACIAL MYOHYPERPLASIA, SOMATIC [RCV003882732]\|Inborn genetic diseases [RCV004955262]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV000032909]\|Non-small cell lung carcinoma [ ... (more) RCV000038675]\|PIK3CA overgrowth syndrome [RCV004698336]\|PIK3CA related overgrowth syndrome [RCV003233079]\|Segmental undergrowth associated with mainly venous malformation with capillary component [RCV001705625]\|not provided [RCV001092441]	pathogenic\|likely pathogenic\|other	3	179234296	179234296	Human	24	trait , alternate_id
155794829	CV1861052	single nucleotide variant	NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV002468765]\|PIK3CA-related disorder [RCV004725294]	likely pathogenic\|uncertain significance	3	179221143	179221143	Human	1	alternate_id
401798039	CV2739186	single nucleotide variant	NM_006218.4(PIK3CA):c.2924G>A (p.Arg975Lys)	PIK3CA-related disorder [RCV004538938]\|not provided [RCV003318834]	uncertain significance	3	179230364	179230364	Human		alternate_id
401923524	CV2796725	single nucleotide variant	NM_006218.4(PIK3CA):c.3050A>T (p.Asp1017Val)	PIK3CA-related disorder [RCV004527960]	uncertain significance	3	179234207	179234207	Human		trait , alternate_id
401913235	CV2801638	single nucleotide variant	NM_006218.4(PIK3CA):c.3074C>A (p.Thr1025Asn)	PIK3CA-related disorder [RCV004529279]	likely pathogenic	3	179234231	179234231	Human		trait , alternate_id
8599483	CV28691	single nucleotide variant	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	Abnormal cardiovascular system morphology [RCV001327968]\|Breast adenocarcinoma [RCV000014622]\|Breast carcinoma [RCV003128082]\|CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC [RCV001728091]\|CLAPO syndrome [RCV001729349]\|CLOVES syndrome [RCV000024621]\|Carcinoma of colon [RCV000014624]\|Cerebrofacial Vascul ... (more) ar Metameric Syndrome (CVMS) [RCV001730472]\|Congenital macrodactylia [RCV001526648]\|Gastric cancer [RCV002508124]\|Hepatocellular carcinoma [RCV000014626]\|Klippel-Trenaunay-like-Syndrome [RCV003325939]\|Lip and oral cavity carcinoma [RCV001255686]\|MACRODACTYLY, SOMATIC [RCV000709691]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001807727]\|Non-small cell lung carcinoma [RCV000014627]\|OVARIAN CANCER, EPITHELIAL, SOMATIC [RCV000014623]\|Ovarian neoplasm [RCV000154516]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836707]\|PIK3CA related overgrowth syndrome [RCV000201231]\|PIK3CA-Related Overgrowth Spectrum Disorders [RCV005051734]\|PIK3CA-related disorder [RCV004737153]\|Rare combined vascular malformation [RCV004527291]\|Rare venous malformation [RCV004527290]\|Rosette-forming glioneuronal tumor [RCV000487449]\|Seborrheic keratosis [RCV000014628]\|Segmental undergrowth associated with lymphatic malformation [RCV001705590]\|Segmental undergrowth associated with mainly venous malformation with capillary component [RCV001705589]\|not provided [RCV001092442]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|other	3	179234297	179234297	Human	26	trait , alternate_id
405264173	CV3189944	single nucleotide variant	NM_006218.4(PIK3CA):c.1997T>G (p.Phe666Cys)	PIK3CA-related disorder [RCV004534458]	uncertain significance	3	179220034	179220034	Human		trait , alternate_id
405268451	CV3200965	single nucleotide variant	NM_006218.4(PIK3CA):c.1256A>G (p.His419Arg)	PIK3CA-related disorder [RCV004531820]	uncertain significance	3	179210190	179210190	Human		trait , alternate_id
408382659	CV3503567	single nucleotide variant	NM_006218.4(PIK3CA):c.1162A>G (p.Asn388Asp)	PIK3CA-related disorder [RCV004730063]	uncertain significance	3	179209611	179209611	Human		trait , alternate_id
408369368	CV3510135	single nucleotide variant	NM_006218.4(PIK3CA):c.2521A>G (p.Ile841Val)	Inborn genetic diseases [RCV005387311]\|PIK3CA-related disorder [RCV004736870]	likely pathogenic\|uncertain significance	3	179229297	179229297	Human	1	alternate_id
12836178	CV363349	single nucleotide variant	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	Abnormal cardiovascular system morphology [RCV001327961]\|CLOVES syndrome [RCV001526693]\|Cowden syndrome [RCV001861479]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV000991209]\|Ovarian neoplasm [RCV000785580]\|PIK3CA related overgrowth syndrome ... (more) [RCV002472374]\|PIK3CA-related disorder [RCV002244865]\|not provided [RCV001775789]	pathogenic\|likely pathogenic	3	179210291	179210291	Human	7	alternate_id
12883255	CV393365	single nucleotide variant	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	Cowden syndrome [RCV000461259]\|Familial cancer of breast [RCV000764479]\|PIK3CA-related disorder [RCV004533141]	uncertain significance	3	179204573	179204573	Human	21	alternate_id
12894793	CV406150	single nucleotide variant	NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	Angioosteohypertrophic syndrome [RCV002254298]\|Cowden syndrome [RCV000798360]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001526558]\|Ovarian neoplasm [RCV000785369]\|PIK3CA related overgrowth syndrome [RCV005251138]\|PIK3CA ... (more) 700;'>PIK3CA-related disorder [RCV004535503]\|not provided [RCV000484163]	pathogenic	3	179204536	179204536	Human	5	alternate_id
13497192	CV451966	single nucleotide variant	NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His)	Cowden syndrome [RCV000538378]\|PIK3CA-related disorder [RCV004737607]	uncertain significance	3	179225998	179225998	Human	1	alternate_id
13473321	CV452170	single nucleotide variant	NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn)	Cowden syndrome [RCV000547757]\|PIK3CA-related disorder [RCV004537902]\|not provided [RCV003237894]	uncertain significance	3	179210554	179210554	Human	1	alternate_id
38493127	CV953398	single nucleotide variant	NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met)	Cowden syndrome [RCV001240400]\|Familial cancer of breast [RCV005029818]\|PIK3CA-related disorder [RCV004738213]	uncertain significance	3	179210502	179210502	Human	24	alternate_id
41407235	CV983286	microsatellite	NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	Angioosteohypertrophic syndrome [RCV004527420]\|CLOVES syndrome [RCV003447584]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836980]\|PIK3CA related overgrowth syndrome [RCV001289461]\|PIK3CA ... (more) 00;'>PIK3CA-related disorder [RCV004727079]\|Rare venous malformation [RCV004527421]\|not provided [RCV002254349]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	179199150	179199152	Human		alternate_id
127286107	CV1161769	single nucleotide variant	NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001526504]\|PIK3CA related overgrowth syndrome [RCV003234076]	pathogenic\|likely pathogenic	3	179234261	179234261	Human	1	alternate_id
150420427	CV1197039	single nucleotide variant	NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile)	PIK3CA related overgrowth syndrome [RCV002472380]\|not provided [RCV001577605]	pathogenic\|likely pathogenic	3	179234169	179234169	Human	1	alternate_id
153000871	CV1683870	single nucleotide variant	NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His)	Cowden syndrome [RCV005095870]\|PIK3CA related overgrowth syndrome [RCV003157111]	pathogenic\|likely pathogenic	3	179234218	179234218	Human	2	alternate_id
9690285	CV173901	single nucleotide variant	NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	Cowden syndrome [RCV000699681]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001526545]\|Non-small cell lung carcinoma [RCV000155959]\|PIK3CA related overgrowth syndrome [RCV000201237]\|not provided [RCV002293423]	pathogenic\|likely pathogenic	3	179234286	179234286	Human	4	alternate_id
155794828	CV1861051	single nucleotide variant	NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV002468764]\|PIK3CA related overgrowth syndrome [RCV005251326]	pathogenic\|likely pathogenic	3	179210280	179210280	Human	1	alternate_id
10407296	CV213942	single nucleotide variant	NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	Cowden syndrome [RCV000631214]\|PIK3CA related overgrowth syndrome [RCV000201236]\|not provided [RCV003320599]	pathogenic\|likely pathogenic	3	179234286	179234286	Human	2	alternate_id
10407295	CV213943	single nucleotide variant	NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	Capillary malformation [RCV003485561]\|Cowden syndrome [RCV002517302]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001775099]\|PIK3CA related overgrowth syndrome [RCV000201234]	pathogenic\|likely pathogenic	3	179218305	179218305	Human	4	alternate_id
329952789	CV2670127	single nucleotide variant	NM_006218.4(PIK3CA):c.2702G>T (p.Cys901Phe)	PIK3CA related overgrowth syndrome [RCV003233340]	likely pathogenic	3	179230039	179230039	Human	1	alternate_id
401726612	CV2736150	deletion	NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)	PIK3CA related overgrowth syndrome [RCV003458258]\|not provided [RCV003312597]	pathogenic\|likely pathogenic	3	179210272	179210298	Human	1	alternate_id
401945738	CV2839616	indel	NM_006218.4(PIK3CA):c.1632_1633delinsAA (p.Glu545Lys)	PIK3CA related overgrowth syndrome [RCV003458278]	pathogenic	3	179218302	179218303	Human		alternate_id
8599484	CV28692	single nucleotide variant	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	Breast adenocarcinoma [RCV000014629]\|CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC [RCV001728092]\|CLAPO syndrome [RCV000709692]\|CLOVES syndrome [RCV000032905]\|Cavernous lymphangioma [RCV004527292]\|Colorectal cancer [RCV001807728]\|Cowden syndrome 1 [RCV000987367]\|Hemihypertrophy [RCV001526597]\|Inborn g ... (more) enetic diseases [RCV004649064]\|Macrodactyly of toe [RCV000626894]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001253236]\|Ovarian neoplasm [RCV000422323]\|PIK3CA related overgrowth syndrome [RCV000201235]\|not provided [RCV002254265]	pathogenic\|likely pathogenic\|conflicting data from submitters\|other	3	179234297	179234297	Human	17	alternate_id
8599485	CV28693	single nucleotide variant	NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)	Breast adenocarcinoma [RCV000014630]\|PIK3CA related overgrowth syndrome [RCV005251037]	pathogenic\|likely pathogenic\|other	3	179218306	179218306	Human	3	alternate_id
8599487	CV28695	single nucleotide variant	NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	Carcinoma of colon [RCV000014637]\|Epidermal nevus [RCV000014638]\|PIK3CA related overgrowth syndrome [RCV004562209]	pathogenic\|likely pathogenic\|other	3	179218304	179218304	Human	5	alternate_id
8599488	CV28696	single nucleotide variant	NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	Carcinoma of colon [RCV000014640]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV004698784]\|OVARIAN CANCER, EPITHELIAL, SOMATIC [RCV000014639]\|Ovarian neoplasm [RCV000436582]\|PIK3CA related overgrowth syndrome [RCV000201230]\|Prostate cancer [R ... (more) CV000205164]\|Segmental undergrowth associated with mainly venous malformation with capillary component [RCV001705592]\|not provided [RCV001762046]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|other	3	179218306	179218306	Human	7	name , alternate_id
405869357	CV3397749	indel	NM_006218.4(PIK3CA):c.1358_1361delinsG (p.Glu453_Asp454delinsGly)	PIK3CA related overgrowth syndrome [RCV004566500]	likely pathogenic	3	179210292	179210295	Human		alternate_id
407574681	CV3495430	deletion	NM_006218.4(PIK3CA):c.1345_1356del (p.Pro449_Leu452del)	PIK3CA related overgrowth syndrome [RCV004720186]	likely pathogenic	3	179210277	179210288	Human	1	alternate_id
12834383	CV362777	single nucleotide variant	NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)	Ovarian neoplasm [RCV000785567]\|PIK3CA related overgrowth syndrome [RCV004719812]	pathogenic\|likely pathogenic	3	179218307	179218307	Human	3	alternate_id
12835108	CV362778	single nucleotide variant	NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)	PIK3CA related overgrowth syndrome [RCV005251518]	pathogenic\|likely pathogenic	3	179218307	179218307	Human	1	alternate_id
12834435	CV362929	single nucleotide variant	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	Abnormal cardiovascular system morphology [RCV001327959]\|Familial cancer of breast [RCV002502454]\|PIK3CA related overgrowth syndrome [RCV003458198]\|not provided [RCV001172158]	pathogenic\|likely pathogenic	3	179203765	179203765	Human	23	alternate_id
12834523	CV363355	single nucleotide variant	NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	Cowden syndrome [RCV001851018]\|Inborn genetic diseases [RCV000624735]\|Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV003152707]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836817]\|PIK3CA ... (more) related overgrowth syndrome [RCV003233633]\|not provided [RCV000484330]	pathogenic\|likely pathogenic	3	179221146	179221146	Human	3	alternate_id
12838662	CV363377	single nucleotide variant	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	Cowden syndrome 5 [RCV000767535]\|Cowden syndrome [RCV000631216]\|Hypertelorism [RCV000852337]\|Inborn genetic diseases [RCV004955473]\|PIK3CA related overgrowth syndrome [RCV003985084]\|not provided [RCV000485942]	pathogenic\|likely pathogenic\|drug response	3	179203760	179203760	Human	11	alternate_id
598214584	CV3890640	single nucleotide variant	NM_006218.4(PIK3CA):c.1037T>G (p.Val346Gly)	PIK3CA related overgrowth syndrome [RCV005251517]	likely pathogenic	3	179203767	179203767	Human	1	alternate_id
598214601	CV3890647	deletion	NM_006218.4(PIK3CA):c.1353_1367del (p.Leu452_Leu456del)	PIK3CA related overgrowth syndrome [RCV005251525]	likely pathogenic	3	179210287	179210301	Human	1	alternate_id
598214602	CV3890648	deletion	NM_006218.4(PIK3CA):c.1348_1374del (p.His450_Pro458del)	PIK3CA related overgrowth syndrome [RCV005251526]	likely pathogenic	3	179210279	179210305	Human	1	alternate_id
598214655	CV3890669	inversion	NM_006218.4(PIK3CA):c.1637_1638inv (p.Gln546Pro)	PIK3CA related overgrowth syndrome [RCV005251551]	likely pathogenic	3	179218307	179218308	Human		alternate_id
12894372	CV406149	single nucleotide variant	NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001849378]\|PIK3CA related overgrowth syndrome [RCV003233647]\|not provided [RCV000482573]	pathogenic\|likely pathogenic	3	179203778	179203778	Human	1	alternate_id
13485116	CV452151	deletion	NM_006218.4(PIK3CA):c.321_323del (p.Arg108del)	Cowden syndrome [RCV000530625]\|PIK3CA related overgrowth syndrome [RCV005251144]	likely pathogenic\|uncertain significance	3	179199146	179199148	Human	2	alternate_id
13530940	CV511469	single nucleotide variant	NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly)	Inborn genetic diseases [RCV000622911]\|PIK3CA related overgrowth syndrome [RCV005251158]\|not provided [RCV003318606]	pathogenic\|uncertain significance	3	179203779	179203779	Human	2	alternate_id
8608334	CV54634	single nucleotide variant	NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	CLOVES syndrome [RCV001526503]\|Non-small cell lung carcinoma [RCV000038673]\|PIK3CA related overgrowth syndrome [RCV003458194]\|not provided [RCV002254274]	pathogenic\|likely pathogenic	3	179234230	179234230	Human	4	alternate_id
21068690	CV795365	single nucleotide variant	NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)	Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV001775154]\|PIK3CA related overgrowth syndrome [RCV003233916]\|not provided [RCV000998161]	pathogenic\|likely pathogenic	3	179204533	179204533	Human	1	alternate_id
41407234	CV983287	single nucleotide variant	NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu)	PIK3CA related overgrowth syndrome [RCV001289460]	pathogenic	3	179230064	179230064	Human	1	alternate_id
150479354	CV1239370	insertion	NM_006218.4(PIK3CA):c.352+125_352+126insTAT	not provided [RCV001652533]	benign	3	179199300	179199301	Human		name
152054793	CV1610042	indel	NM_006218.4(PIK3CA):c.813+15_813+16delinsAT	Cowden syndrome [RCV002167297]	likely benign	3	179201555	179201556	Human		name
127328826	CV1134671	indel	NM_006218.4(PIK3CA):c.1060-18_1060-17delinsAA	Cowden syndrome [RCV001486990]	likely benign	3	179204485	179204486	Human		name
150500564	CV1238202	insertion	NM_006218.4(PIK3CA):c.2495+163_2495+164insGACTT	not provided [RCV001656632]	benign	3	179226199	179226200	Human		name
597716222	CV3579733	single nucleotide variant	NM_006218.4(PIK3CA):c.1570A>G (p.Arg524Gly)	Inborn genetic diseases [RCV004959822]	uncertain significance	3	179218240	179218240	Human	1	name

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