Piga Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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362 records found for search term Piga

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12843169	CV379927	single nucleotide variant	NM_002641.4(PIGA):c.*7G>T	PIGA-related disorder [RCV003970159]\|not provided [RCV000992536]\|not specified [RCV000435746]	benign\|likely benign	X	15321499	15321499	Human		name , trait , alternate_id
13537355	CV507888	deletion	NM_002641.4(PIGA):c.-9del	not specified [RCV000610294]	likely benign	X	15331939	15331939	Human		name
150422826	CV1182068	single nucleotide variant	NM_002641.4(PIGA):c.-75A>T	not provided [RCV001553172]	uncertain significance	X	15335513	15335513	Human		name
150457188	CV1202589	deletion	NM_002641.4(PIGA):c.*85del	not provided [RCV001586242]	likely benign	X	15321421	15321421	Human		name
150476620	CV1218504	single nucleotide variant	NM_002641.4(PIGA):c.*40G>A	not provided [RCV001616131]	benign	X	15321466	15321466	Human		name
150529487	CV1289034	single nucleotide variant	NM_002641.4(PIGA):c.-69C>T	not provided [RCV001727503]	uncertain significance	X	15335507	15335507	Human		name
405271976	CV3203022	single nucleotide variant	NM_002641.4(PIGA):c.-64C>T	PIGA-related disorder [RCV003914074]	likely benign	X	15335502	15335502	Human		name , trait , alternate_id
12850128	CV363732	single nucleotide variant	NM_002641.4(PIGA):c.-75A>G	not provided [RCV000441914]\|not specified [RCV000611053]	likely benign	X	15335513	15335513	Human		name
12834709	CV379039	single nucleotide variant	NM_002641.3(PIGA):c.-91C>G	not specified [RCV000420415]	likely benign	X	15335529	15335529	Human		name
598197742	CV4006453	single nucleotide variant	NM_002641.4(PIGA):c.-74T>G	Inborn genetic diseases [RCV005397917]	uncertain significance	X	15335512	15335512	Human	1	name
13518891	CV486470	single nucleotide variant	NM_002641.4(PIGA):c.-75A>C	not provided [RCV000585198]	uncertain significance	X	15335513	15335513	Human		name
14710662	CV671055	single nucleotide variant	NM_002641.3(PIGA):c.-427G>C	not provided [RCV000827776]	benign	X	15335865	15335865	Human		name
127269788	CV1108083	single nucleotide variant	NM_002641.4(PIGA):c.982-4T>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001430367]	likely benign	X	15324875	15324875	Human	1	name
127274577	CV1108084	single nucleotide variant	NM_002641.4(PIGA):c.715+7A>C	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001442902]	likely benign	X	15331209	15331209	Human	1	name
127296802	CV1129446	single nucleotide variant	NM_002641.4(PIGA):c.981+9C>T	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001477461]	likely benign	X	15325011	15325011	Human	1	name
150407287	CV1195711	deletion	NM_002641.4(PIGA):c.716-4del	not provided [RCV001572300]	likely benign	X	15326050	15326050	Human		name
150543382	CV1309433	single nucleotide variant	NM_002641.4(PIGA):c.-63+1G>A	not provided [RCV003238500]	likely pathogenic	X	15335500	15335500	Human		name
151777875	CV1370494	single nucleotide variant	NM_002641.4(PIGA):c.982-3A>C	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001864689]	uncertain significance	X	15324874	15324874	Human	1	name
243055322	CV2406143	single nucleotide variant	NM_002641.4(PIGA):c.981+3A>G	not provided [RCV003131955]	uncertain significance	X	15325017	15325017	Human		name
402508642	CV2995960	single nucleotide variant	NM_002641.4(PIGA):c.982-9C>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645821]	likely benign	X	15324880	15324880	Human	1	name
12845652	CV379934	single nucleotide variant	NM_002641.4(PIGA):c.-63+8C>T	PIGA-related disorder [RCV003897879]\|not provided [RCV004703951]\|not specified [RCV000440209]	likely benign	X	15335493	15335493	Human		name , trait , alternate_id
13531055	CV507783	single nucleotide variant	NM_002641.4(PIGA):c.981+8G>A	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649044]\|PIGA-related disorder [RCV003935690]\|not provided [RCV001702684]\|not specified [RCV000606344]	benign\|likely benign	X	15325012	15325012	Human	1	name , trait , alternate_id
13621868	CV534580	single nucleotide variant	NM_002641.4(PIGA):c.982-4T>A	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649045]	likely benign	X	15324875	15324875	Human	1	name
13621866	CV534581	deletion	NM_002641.4(PIGA):c.982-9del	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649042]	likely benign	X	15324880	15324880	Human	1	name
14732053	CV653777	single nucleotide variant	NM_002641.4(PIGA):c.715+5T>C	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000801682]	uncertain significance	X	15331211	15331211	Human	1	name
38469461	CV940543	single nucleotide variant	NM_002641.4(PIGA):c.981+5A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001202419]	uncertain significance	X	15325015	15325015	Human	1	name
40814210	CV967024	single nucleotide variant	NM_002641.4(PIGA):c.716-9T>A	Intellectual disability [RCV001257697]	uncertain significance	X	15326055	15326055	Human	2	name
40903482	CV977299	single nucleotide variant	NM_002641.4(PIGA):c.981+4A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001270775]	uncertain significance	X	15325016	15325016	Human	1	name
150508618	CV1284327	single nucleotide variant	NM_002641.4(PIGA):c.716-27C>A	not provided [RCV001720435]	benign	X	15326073	15326073	Human		name
151778743	CV1471174	single nucleotide variant	NM_002641.4(PIGA):c.849-10A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001971878]	likely benign\|uncertain significance	X	15325162	15325162	Human	1	name
152051745	CV1521562	single nucleotide variant	NM_002641.4(PIGA):c.848+17T>C	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002145773]	likely benign	X	15325897	15325897	Human	1	name
152051072	CV1637006	single nucleotide variant	NM_002641.4(PIGA):c.849-19C>T	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002189423]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV002222078]	likely benign\|uncertain significance	X	15325171	15325171	Human	2	name
156377569	CV2024883	single nucleotide variant	NM_002641.4(PIGA):c.715+18A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002722050]	likely benign	X	15331198	15331198	Human	1	name
155954989	CV2086906	single nucleotide variant	NM_002641.4(PIGA):c.848+20T>A	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002862551]	likely benign	X	15325894	15325894	Human	1	name
156288195	CV2115040	single nucleotide variant	NM_002641.4(PIGA):c.849-20C>T	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002922040]	benign	X	15325172	15325172	Human	1	name
156022650	CV2138963	single nucleotide variant	NM_002641.4(PIGA):c.848+20T>C	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002998754]	likely benign	X	15325894	15325894	Human	1	name
156008153	CV2175687	single nucleotide variant	NM_002641.4(PIGA):c.981+11T>A	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003035092]	likely benign	X	15325009	15325009	Human	1	name
8598430	CV24996	deletion	NM_002641.4(PIGA):c.1188+2del	Paroxysmal nocturnal hemoglobinuria [RCV001799594]	pathogenic	X	15324663	15324663	Human	2	name
8598438	CV25004	single nucleotide variant	NM_002641.4(PIGA):c.1188+1G>A	Paroxysmal nocturnal hemoglobinuria [RCV001799602]	pathogenic	X	15324664	15324664	Human	2	name
329847495	CV2534024	single nucleotide variant	NM_002641.4(PIGA):c.1188+1G>C	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228230]	likely pathogenic	X	15324664	15324664	Human	1	name
405209162	CV3145812	single nucleotide variant	NM_002641.4(PIGA):c.1188+3A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003845542]	uncertain significance	X	15324662	15324662	Human	1	name
597892533	CV3785339	single nucleotide variant	NM_002641.4(PIGA):c.848+15C>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005125925]	likely benign	X	15325899	15325899	Human	1	name
12842781	CV379031	single nucleotide variant	NM_002641.4(PIGA):c.716-10A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649041]\|not provided [RCV001704461]	benign\|likely benign	X	15326056	15326056	Human	1	name
12839005	CV379037	single nucleotide variant	NM_002641.4(PIGA):c.-63+18C>T	not provided [RCV001704282]	likely benign	X	15335483	15335483	Human		name
12848272	CV379933	single nucleotide variant	NM_002641.4(PIGA):c.-63+13C>T	not provided [RCV000514334]\|not specified [RCV000444977]	benign\|likely benign	X	15335488	15335488	Human		name
13528323	CV508365	single nucleotide variant	NM_002641.4(PIGA):c.716-14C>G	not specified [RCV000605443]	likely benign	X	15326060	15326060	Human		name
13536965	CV508518	single nucleotide variant	NM_002641.4(PIGA):c.-63+17C>T	not specified [RCV000609732]	likely benign	X	15335484	15335484	Human		name
14738876	CV653501	single nucleotide variant	NM_002641.4(PIGA):c.1188+4T>C	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000821111]	benign\|uncertain significance	X	15324661	15324661	Human	1	name
14733070	CV671049	single nucleotide variant	NM_002641.4(PIGA):c.849-23T>C	not provided [RCV000836932]	benign	X	15325175	15325175	Human		name
150421938	CV1182067	single nucleotide variant	NM_002641.4(PIGA):c.-62-278T>C	not provided [RCV001552242]	likely benign	X	15332270	15332270	Human		name
150423190	CV1185743	single nucleotide variant	NM_002641.4(PIGA):c.715+273A>G	not provided [RCV001554992]	likely benign	X	15330943	15330943	Human		name
150405460	CV1195710	single nucleotide variant	NM_002641.4(PIGA):c.848+294C>A	not provided [RCV001571638]	likely benign	X	15325620	15325620	Human		name
150416546	CV1199431	single nucleotide variant	NM_002641.4(PIGA):c.716-172G>T	not provided [RCV001575928]	likely benign	X	15326218	15326218	Human		name
156237294	CV2056354	single nucleotide variant	NM_002641.4(PIGA):c.1188+14T>A	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002791220]	likely benign	X	15324651	15324651	Human	1	name
156289942	CV2068791	single nucleotide variant	NM_002641.4(PIGA):c.1188+20A>G	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002856708]	likely benign	X	15324645	15324645	Human	1	name
402498819	CV3018781	single nucleotide variant	NM_002641.4(PIGA):c.1189-17G>T	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644663]	likely benign	X	15321789	15321789	Human	1	name
14706785	CV669869	single nucleotide variant	NM_002641.4(PIGA):c.715+168C>A	not provided [RCV000826628]	benign	X	15331048	15331048	Human		name
14733072	CV670742	single nucleotide variant	NM_002641.4(PIGA):c.1188+53C>T	not provided [RCV000836933]	benign	X	15324612	15324612	Human		name
14706783	CV671052	single nucleotide variant	NM_002641.4(PIGA):c.-63+140C>G	not provided [RCV000826627]	benign	X	15335361	15335361	Human		name
401931075	CV2823922	single nucleotide variant	NM_002641.4(PIGA):c.716-2322C>T	not provided [RCV003441040]	likely benign	X	15328368	15328368	Human		name
407429659	CV3414046	single nucleotide variant	NM_002641.4(PIGA):c.716-2317A>G	not specified [RCV004595460]	benign	X	15328363	15328363	Human		name
407429660	CV3414047	single nucleotide variant	NM_002641.4(PIGA):c.716-2392T>A	not specified [RCV004595461]	benign	X	15328438	15328438	Human		name
598128168	CV3883187	single nucleotide variant	NM_002641.4(PIGA):c.1188+482T>C	not provided [RCV005234720]	uncertain significance	X	15324183	15324183	Human		name
14733414	CV670845	single nucleotide variant	NM_002641.4(PIGA):c.1188+159C>T	not provided [RCV000837083]	benign	X	15324506	15324506	Human		name
150404749	CV1178690	deletion	NM_002641.4(PIGA):c.286_288del	not provided [RCV001544561]	likely benign	X	15321218	15321220	Human		name
152117736	CV1643880	microsatellite	NM_002641.4(PIGA):c.982-17CTTT[2]	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002135312]	likely benign	X	15324877	15324880	Human		name
126745842	CV1018927	single nucleotide variant	NM_002641.4(PIGA):c.1A>G (p.Met1Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001330748]	likely pathogenic	X	15331930	15331930	Human	1	name
152058126	CV1523294	microsatellite	NM_002641.4(PIGA):c.849-16_849-15del	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002167691]	likely benign	X	15325167	15325168	Human		name
152091863	CV1594366	single nucleotide variant	NM_002641.4(PIGA):c.48A>G (p.Thr16=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002171930]	likely benign	X	15331883	15331883	Human	1	name
401961272	CV2844657	deletion	NM_002641.4(PIGA):c.1189-2_1189-1del	not provided [RCV003480454]	likely pathogenic	X	15321773	15321774	Human		name
405048600	CV2899893	single nucleotide variant	NM_002641.4(PIGA):c.4G>A (p.Ala2Thr)	Inborn genetic diseases [RCV004953328]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003531007]	uncertain significance	X	15331927	15331927	Human	2	name
12847999	CV379932	single nucleotide variant	NM_002641.4(PIGA):c.96C>G (p.Thr32=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644984]\|not specified [RCV000444489]	benign\|likely benign	X	15331835	15331835	Human	1	name
126763225	CV1035387	single nucleotide variant	NM_002641.4(PIGA):c.26A>G (p.Asn9Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001341191]	uncertain significance	X	15331905	15331905	Human	1	name
8688847	CV136564	duplication	NM_002641.4(PIGA):c.76dup (p.Tyr26fs)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119284]	pathogenic	X	15331854	15331855	Human	1	name
156123218	CV1982863	single nucleotide variant	NM_002641.4(PIGA):c.216T>C (p.His72=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002623025]	likely benign	X	15331715	15331715	Human	1	name
11350917	CV237178	duplication	NM_002641.4(PIGA):c.68dup (p.Ser24fs)	not provided [RCV000224623]	pathogenic	X	15331862	15331863	Human		name
402500065	CV3049193	single nucleotide variant	NM_002641.4(PIGA):c.252C>T (p.Thr84=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644786]	likely benign	X	15331679	15331679	Human	1	name
12838985	CV377835	single nucleotide variant	NM_002641.4(PIGA):c.198G>A (p.Lys66=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001518222]\|not specified [RCV000427977]	benign\|likely benign	X	15331733	15331733	Human	1	name
12840433	CV379034	single nucleotide variant	NM_002641.4(PIGA):c.273C>T (p.Tyr91=)	Inborn genetic diseases [RCV002436307]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649047]\|PIGA-related disorder [RCV003942406]\|not provided [RCV001712260]	benign\|likely benign	X	15331658	15331658	Human	2	name , trait , alternate_id
597924010	CV3863033	single nucleotide variant	NM_002641.4(PIGA):c.132A>G (p.Pro44=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005205521]	likely benign	X	15331799	15331799	Human	1	name
14720889	CV649760	single nucleotide variant	NM_002641.4(PIGA):c.23G>A (p.Gly8Glu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000813216]	uncertain significance	X	15331908	15331908	Human	1	name
15129146	CV773844	single nucleotide variant	NM_002641.4(PIGA):c.120C>T (p.Asp40=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001513734]	benign	X	15331811	15331811	Human	1	name
38475617	CV939465	single nucleotide variant	NM_002641.4(PIGA):c.19G>A (p.Ala7Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001204330]	uncertain significance	X	15331912	15331912	Human	1	name
38476370	CV951638	single nucleotide variant	NM_002641.4(PIGA):c.144C>T (p.Gly48=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001233047]	likely benign\|uncertain significance	X	15331787	15331787	Human	1	name
126766345	CV1035385	single nucleotide variant	NM_002641.4(PIGA):c.43G>A (p.Ala15Thr)	Inborn genetic diseases [RCV002329319]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001342385]	benign\|uncertain significance	X	15331888	15331888	Human	2	name
126748570	CV1035386	single nucleotide variant	NM_002641.4(PIGA):c.35G>A (p.Arg12His)	Inborn genetic diseases [RCV004960806]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001337677]	likely benign\|uncertain significance	X	15331896	15331896	Human	2	name
127254791	CV1086344	single nucleotide variant	NM_002641.4(PIGA):c.459C>T (p.Asp153=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001400869]	likely benign	X	15331472	15331472	Human	1	name
127256561	CV1108085	single nucleotide variant	NM_002641.4(PIGA):c.441T>C (p.Leu147=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001437726]	likely benign	X	15331490	15331490	Human	1	name
127305052	CV1129447	single nucleotide variant	NM_002641.4(PIGA):c.657A>G (p.Pro219=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001462399]	likely benign	X	15331274	15331274	Human	1	name
127336942	CV1129448	single nucleotide variant	NM_002641.4(PIGA):c.456G>A (p.Thr152=)	Inborn genetic diseases [RCV002342071]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001475311]	likely benign	X	15331475	15331475	Human	2	name
127299543	CV1129449	single nucleotide variant	NM_002641.4(PIGA):c.438G>C (p.Gly146=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001478219]	likely benign	X	15331493	15331493	Human	1	name
127293560	CV1129450	single nucleotide variant	NM_002641.4(PIGA):c.399T>C (p.Ala133=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001476619]	likely benign	X	15331532	15331532	Human	1	name
127296154	CV1129451	single nucleotide variant	NM_002641.4(PIGA):c.387T>C (p.Ser129=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001452685]	likely benign	X	15331544	15331544	Human	1	name
127303824	CV1150493	single nucleotide variant	NM_002641.4(PIGA):c.984T>C (p.Val328=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001499490]	likely benign	X	15324869	15324869	Human	1	name
127326750	CV1150494	single nucleotide variant	NM_002641.4(PIGA):c.420C>T (p.Phe140=)	Inborn genetic diseases [RCV002329642]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001506396]\|not provided [RCV001762703]	likely benign\|uncertain significance	X	15331511	15331511	Human	2	name
127325124	CV1150495	single nucleotide variant	NM_002641.4(PIGA):c.417C>T (p.Leu139=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001485699]	likely benign	X	15331514	15331514	Human	1	name
127304580	CV1150496	single nucleotide variant	NM_002641.4(PIGA):c.390T>C (p.Ser130=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001479539]	likely benign	X	15331541	15331541	Human	1	name
127317378	CV1159425	single nucleotide variant	NM_002641.4(PIGA):c.369G>A (p.Thr123=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001521067]\|not provided [RCV001587458]	benign\|likely benign	X	15331562	15331562	Human	1	name
151733217	CV1512398	single nucleotide variant	NM_002641.4(PIGA):c.47C>T (p.Thr16Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002021516]	uncertain significance	X	15331884	15331884	Human	1	name
152170941	CV1552482	single nucleotide variant	NM_002641.4(PIGA):c.924C>T (p.Thr308=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002143286]	likely benign	X	15325077	15325077	Human	1	name
152049383	CV1585540	single nucleotide variant	NM_002641.4(PIGA):c.924C>G (p.Thr308=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002145488]	likely benign	X	15325077	15325077	Human	1	name
152167467	CV1644694	single nucleotide variant	NM_002641.4(PIGA):c.744T>G (p.Pro248=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002142169]	likely benign	X	15326018	15326018	Human	1	name
155683255	CV1814990	single nucleotide variant	NM_002641.4(PIGA):c.927C>T (p.Ser309=)	Inborn genetic diseases [RCV002371453]	likely benign	X	15325074	15325074	Human	1	name
156358511	CV1873870	single nucleotide variant	NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003065440]	benign	X	15331897	15331897	Human	1	name
156022324	CV1919932	single nucleotide variant	NM_002641.4(PIGA):c.591A>G (p.Ala197=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002619459]	likely benign	X	15331340	15331340	Human	1	name
156283620	CV1929607	single nucleotide variant	NM_002641.4(PIGA):c.789A>T (p.Gly263=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002628522]\|PIGA-related disorder [RCV003420384]	likely benign\|uncertain significance	X	15325973	15325973	Human	1	name , trait , alternate_id
156120108	CV1982710	single nucleotide variant	NM_002641.4(PIGA):c.73C>A (p.Leu25Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002622912]	uncertain significance	X	15331858	15331858	Human	1	name
155905598	CV2048108	single nucleotide variant	NM_002641.4(PIGA):c.811T>C (p.Leu271=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002771245]	likely benign	X	15325951	15325951	Human	1	name
10401556	CV205333	single nucleotide variant	NM_002641.4(PIGA):c.98A>G (p.His33Arg)	Inborn genetic diseases [RCV000190762]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001731150]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV003992224]	likely pathogenic\|conflicting interpretations of pathogenicity	X	15331833	15331833	Human	3	name
156087413	CV2080107	single nucleotide variant	NM_002641.4(PIGA):c.732T>C (p.Ser244=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002847592]	likely benign	X	15326030	15326030	Human	1	name
156189245	CV2086680	single nucleotide variant	NM_002641.4(PIGA):c.447A>G (p.Thr149=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002852084]	likely benign	X	15331484	15331484	Human	1	name
156038893	CV2097887	single nucleotide variant	NM_002641.4(PIGA):c.960A>G (p.Glu320=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002885729]	likely benign	X	15325041	15325041	Human	1	name
156246482	CV2105668	single nucleotide variant	NM_002641.4(PIGA):c.85A>G (p.Arg29Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002933390]	uncertain significance	X	15331846	15331846	Human	1	name
10450225	CV215615	single nucleotide variant	NM_002641.4(PIGA):c.79A>G (p.Thr27Ala)	not specified [RCV000202879]	likely benign	X	15331852	15331852	Human		name
329391190	CV2452137	single nucleotide variant	NM_002641.4(PIGA):c.53C>A (p.Ser18Tyr)	Inborn genetic diseases [RCV003217167]	likely benign	X	15331878	15331878	Human	1	name
401931076	CV2823923	single nucleotide variant	NM_002641.4(PIGA):c.32A>G (p.His11Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645365]\|not provided [RCV003441041]	benign\|uncertain significance	X	15331899	15331899	Human	1	name
405050509	CV2912648	single nucleotide variant	NM_002641.4(PIGA):c.852G>T (p.Val284=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003531148]	likely benign	X	15325149	15325149	Human	1	name
405051295	CV2913510	single nucleotide variant	NM_002641.4(PIGA):c.339C>G (p.Leu113=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003531208]	likely benign	X	15331592	15331592	Human	1	name
402504445	CV2937073	single nucleotide variant	NM_002641.4(PIGA):c.91C>G (p.Arg31Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645400]	uncertain significance	X	15331840	15331840	Human	1	name
402505318	CV2970693	single nucleotide variant	NM_002641.4(PIGA):c.864A>T (p.Gly288=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645487]	likely benign	X	15325137	15325137	Human	1	name
402508121	CV2998815	single nucleotide variant	NM_002641.4(PIGA):c.62G>A (p.Ser21Asn)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645788]	uncertain significance	X	15331869	15331869	Human	1	name
402499175	CV3019595	single nucleotide variant	NM_002641.4(PIGA):c.651A>G (p.Pro217=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644698]	likely benign	X	15331280	15331280	Human	1	name
402494570	CV3182969	single nucleotide variant	NM_002641.4(PIGA):c.49C>T (p.Leu17Phe)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003877277]	uncertain significance	X	15331882	15331882	Human	1	name
407428083	CV3410051	single nucleotide variant	NM_002641.4(PIGA):c.612C>T (p.Ser204=)	not specified [RCV004587659]	likely benign	X	15331319	15331319	Human		name
408381044	CV3501377	single nucleotide variant	NM_002641.4(PIGA):c.333A>G (p.Pro111=)	not provided [RCV004727466]	likely benign	X	15331598	15331598	Human		name
12740999	CV360577	single nucleotide variant	NM_002641.4(PIGA):c.62G>T (p.Ser21Ile)	not provided [RCV000413773]	uncertain significance	X	15331869	15331869	Human		name
12842777	CV379028	single nucleotide variant	NM_002641.4(PIGA):c.879G>A (p.Lys293=)	Inborn genetic diseases [RCV002446713]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001516050]\|not provided [RCV000921691]	benign\|likely benign	X	15325122	15325122	Human	2	name
12839317	CV379035	single nucleotide variant	NM_002641.4(PIGA):c.55C>T (p.Arg19Trp)	Inborn genetic diseases [RCV002311467]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000554820]\|not provided [RCV000712538]\|not specified [RCV000428596]	benign	X	15331876	15331876	Human	2	name
12844054	CV379930	single nucleotide variant	NM_002641.4(PIGA):c.672T>C (p.Asp224=)	not specified [RCV000437316]	likely benign	X	15331259	15331259	Human		name
597967059	CV3824155	single nucleotide variant	NM_002641.4(PIGA):c.930T>C (p.Leu310=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005165378]	likely benign	X	15325071	15325071	Human	1	name
597959353	CV3843366	single nucleotide variant	NM_002641.4(PIGA):c.423C>T (p.His141=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005192400]	likely benign	X	15331508	15331508	Human	1	name
12913173	CV422422	single nucleotide variant	NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)	Inborn genetic diseases [RCV002314851]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000694821]\|not provided [RCV000712539]	conflicting interpretations of pathogenicity\|uncertain significance	X	15331870	15331870	Human	2	name
13464458	CV472077	single nucleotide variant	NM_002641.4(PIGA):c.525T>C (p.Leu175=)	Inborn genetic diseases [RCV002316569]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000542222]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV002497172]\|not specified [RCV000611412]	benign\|likely benign	X	15331406	15331406	Human	3	name
13508706	CV481445	single nucleotide variant	NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000578232]\|not provided [RCV001281615]	likely pathogenic\|conflicting interpretations of pathogenicity	X	15331875	15331875	Human	1	name
13816666	CV573640	single nucleotide variant	NM_002641.4(PIGA):c.92G>A (p.Arg31His)	Inborn genetic diseases [RCV002369970]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000706488]	benign\|uncertain significance	X	15331839	15331839	Human	2	name
13829518	CV580817	single nucleotide variant	NM_002641.4(PIGA):c.873A>G (p.Glu291=)	Inborn genetic diseases [RCV002315370]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001500538]	likely benign	X	15325128	15325128	Human	2	name
14706788	CV671050	duplication	NM_002641.4(PIGA):c.849-129_849-128dup	not provided [RCV000826629]	benign	X	15325279	15325280	Human		name
15142916	CV743193	single nucleotide variant	NM_002641.4(PIGA):c.300G>A (p.Gln100=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002537525]	likely benign	X	15331631	15331631	Human	1	name
15167387	CV758336	single nucleotide variant	NM_002641.4(PIGA):c.384T>C (p.His128=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001518903]\|not provided [RCV003438594]	benign\|likely benign	X	15331547	15331547	Human	1	name
15146374	CV758337	single nucleotide variant	NM_002641.4(PIGA):c.312G>A (p.Thr104=)	not provided [RCV000922708]	likely benign	X	15331619	15331619	Human		name
15123675	CV786731	single nucleotide variant	NM_002641.4(PIGA):c.954C>T (p.Ile318=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001417580]\|PIGA-related disorder [RCV003897985]	likely benign	X	15325047	15325047	Human	1	name , trait , alternate_id
21070357	CV798188	single nucleotide variant	NM_002641.4(PIGA):c.29G>A (p.Gly10Asp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002549122]\|not provided [RCV000999331]	uncertain significance	X	15331902	15331902	Human	1	name
28879407	CV860797	single nucleotide variant	NM_002641.4(PIGA):c.91C>T (p.Arg31Cys)	Inborn genetic diseases [RCV002555941]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001319054]\|not provided [RCV001090787]	uncertain significance	X	15331840	15331840	Human	2	name
126726370	CV999640	single nucleotide variant	NM_002641.4(PIGA):c.43G>C (p.Ala15Pro)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001302865]	uncertain significance	X	15331888	15331888	Human	1	name
126740701	CV1014798	single nucleotide variant	NM_002641.4(PIGA):c.281T>C (p.Leu94Pro)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001325239]	uncertain significance	X	15331650	15331650	Human	1	name
126746700	CV1018926	single nucleotide variant	NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001330947]	uncertain significance	X	15331662	15331662	Human	1	name
126761406	CV1035383	single nucleotide variant	NM_002641.4(PIGA):c.215A>G (p.His72Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001340682]	uncertain significance	X	15331716	15331716	Human	1	name
126752592	CV1035384	single nucleotide variant	NM_002641.4(PIGA):c.182T>C (p.Ile61Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001338458]	uncertain significance	X	15331749	15331749	Human	1	name
127260681	CV1108082	single nucleotide variant	NM_002641.4(PIGA):c.1308C>T (p.Phe436=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001427928]\|not provided [RCV005411749]	likely benign	X	15321653	15321653	Human	1	name
150543380	CV1309432	single nucleotide variant	NM_002641.4(PIGA):c.290T>C (p.Met97Thr)	not provided [RCV003238499]	uncertain significance	X	15331641	15331641	Human		name
8688848	CV136565	single nucleotide variant	NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119285]	pathogenic	X	15331701	15331701	Human	1	name
8688851	CV136568	single nucleotide variant	NM_002641.4(PIGA):c.278C>T (p.Pro93Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119288]	pathogenic	X	15331653	15331653	Human	1	name
151821275	CV1453561	single nucleotide variant	NM_002641.4(PIGA):c.227A>G (p.Asn76Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001879236]	uncertain significance	X	15331704	15331704	Human	1	name
151811864	CV1510260	single nucleotide variant	NM_002641.4(PIGA):c.286G>C (p.Val96Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001918688]	uncertain significance	X	15331645	15331645	Human	1	name
151791534	CV1515488	single nucleotide variant	NM_002641.4(PIGA):c.236G>A (p.Gly79Asp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002027273]\|not provided [RCV002246659]	likely pathogenic\|uncertain significance	X	15331695	15331695	Human	1	name
152076655	CV1565939	single nucleotide variant	NM_002641.4(PIGA):c.1185A>G (p.Glu395=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002075824]	likely benign	X	15324668	15324668	Human	1	name
152075358	CV1601311	single nucleotide variant	NM_002641.4(PIGA):c.1419A>G (p.Arg473=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002112026]	likely benign	X	15321542	15321542	Human	1	name
152094976	CV1603791	single nucleotide variant	NM_002641.4(PIGA):c.1311C>T (p.Leu437=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002213235]	likely benign	X	15321650	15321650	Human	1	name
152982490	CV1677422	single nucleotide variant	NM_002641.4(PIGA):c.109A>G (p.Met37Val)	Paroxysmal nocturnal hemoglobinuria 1 [RCV002249131]	likely pathogenic	X	15331822	15331822	Human	1	name
155267570	CV1697488	single nucleotide variant	NM_002641.4(PIGA):c.268T>C (p.Tyr90His)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002281627]	likely pathogenic	X	15331663	15331663	Human	1	name
156299564	CV2017246	single nucleotide variant	NM_002641.4(PIGA):c.1062T>C (p.Ser354=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002715997]	benign	X	15324791	15324791	Human	1	name
155911777	CV2029398	single nucleotide variant	NM_002641.4(PIGA):c.296A>G (p.Asn99Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002750197]	uncertain significance	X	15331635	15331635	Human	1	name
156322324	CV2053813	single nucleotide variant	NM_002641.4(PIGA):c.154C>T (p.His52Tyr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002810163]\|not provided [RCV005054424]	likely pathogenic\|uncertain significance	X	15331777	15331777	Human	1	name
155952398	CV2076476	single nucleotide variant	NM_002641.4(PIGA):c.1219T>C (p.Leu407=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002862418]	likely benign	X	15321742	15321742	Human	1	name
10408525	CV208918	single nucleotide variant	NM_002641.4(PIGA):c.232A>G (p.Lys78Glu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000761571]\|not specified [RCV000194679]	likely benign\|uncertain significance	X	15331699	15331699	Human	1	name
155944344	CV2111368	single nucleotide variant	NM_002641.4(PIGA):c.272A>G (p.Tyr91Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002904676]	uncertain significance	X	15331659	15331659	Human	1	name
8598431	CV24997	single nucleotide variant	NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)	Paroxysmal nocturnal hemoglobinuria [RCV001799595]\|not provided [RCV002460890]	pathogenic\|likely pathogenic	X	15331637	15331637	Human	2	name
8598434	CV25000	single nucleotide variant	NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)	Paroxysmal nocturnal hemoglobinuria [RCV001799598]	pathogenic	X	15331768	15331768	Human	2	name
8598436	CV25002	deletion	NM_002641.4(PIGA):c.431del (p.Thr144fs)	Paroxysmal nocturnal hemoglobinuria [RCV001799600]	pathogenic	X	15331500	15331500	Human	2	name
329847881	CV2543907	single nucleotide variant	NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228869]	uncertain significance	X	15331764	15331764	Human	1	name
329847883	CV2543909	duplication	NM_002641.4(PIGA):c.329dup (p.Pro111fs)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228871]	likely pathogenic	X	15331601	15331602	Human	1	name
329847885	CV2543911	single nucleotide variant	NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228873]	uncertain significance	X	15331789	15331789	Human	1	name
401931072	CV2823919	single nucleotide variant	NM_002641.4(PIGA):c.1386T>C (p.Gly462=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645364]\|not provided [RCV003441037]	likely benign	X	15321575	15321575	Human	1	name
401931073	CV2823920	single nucleotide variant	NM_002641.4(PIGA):c.1293G>A (p.Leu431=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005100068]\|not provided [RCV003441038]	likely benign	X	15321668	15321668	Human	1	name
402504794	CV2949385	single nucleotide variant	NM_002641.4(PIGA):c.291G>T (p.Met97Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645433]	likely benign	X	15331640	15331640	Human	1	name
402504935	CV2953986	single nucleotide variant	NM_002641.4(PIGA):c.1149T>C (p.Thr383=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645446]	likely benign	X	15324704	15324704	Human	1	name
402505430	CV2971119	single nucleotide variant	NM_002641.4(PIGA):c.1200G>A (p.Arg400=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645497]	likely benign	X	15321761	15321761	Human	1	name
402505543	CV2974732	single nucleotide variant	NM_002641.4(PIGA):c.1143A>G (p.Val381=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645508]	likely benign	X	15324710	15324710	Human	1	name
402507439	CV2986236	single nucleotide variant	NM_002641.4(PIGA):c.289A>C (p.Met97Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645695]	uncertain significance	X	15331642	15331642	Human	1	name
402497606	CV3008139	single nucleotide variant	NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644540]	likely pathogenic	X	15331743	15331743	Human	1	name
407426477	CV3411353	single nucleotide variant	NM_002641.4(PIGA):c.217G>C (p.Ala73Pro)	not provided [RCV004590530]	uncertain significance	X	15331714	15331714	Human		name
407454543	CV3495359	single nucleotide variant	NM_002641.4(PIGA):c.104T>C (p.Ile35Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV004691669]	uncertain significance	X	15331827	15331827	Human	1	name
408390673	CV3527673	single nucleotide variant	NM_002641.4(PIGA):c.137T>C (p.Met46Thr)	not provided [RCV004774941]	uncertain significance	X	15331794	15331794	Human		name
597942505	CV3786241	single nucleotide variant	NM_002641.4(PIGA):c.263A>G (p.Lys88Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005133932]	uncertain significance	X	15331668	15331668	Human	1	name
12833756	CV378939	single nucleotide variant	NM_002641.4(PIGA):c.113T>C (p.Val38Ala)	not provided [RCV000419126]	likely pathogenic\|uncertain significance	X	15331818	15331818	Human		name
12849885	CV379931	single nucleotide variant	NM_002641.4(PIGA):c.293A>G (p.Tyr98Cys)	not provided [RCV000437982]	likely pathogenic	X	15331638	15331638	Human		name
597947789	CV3852346	single nucleotide variant	NM_002641.4(PIGA):c.1350C>T (p.Ile450=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005189423]	likely benign	X	15321611	15321611	Human	1	name
13621869	CV534614	single nucleotide variant	NM_002641.4(PIGA):c.1422G>A (p.Gly474=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001401479]	likely benign	X	15321539	15321539	Human	1	name
13621867	CV534652	single nucleotide variant	NM_002641.4(PIGA):c.1095A>G (p.Gln365=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649043]	likely benign	X	15324758	15324758	Human	1	name
13621863	CV535068	single nucleotide variant	NM_002641.4(PIGA):c.112G>A (p.Val38Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649037]	uncertain significance	X	15331819	15331819	Human	1	name
13794633	CV552245	single nucleotide variant	NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000680065]	conflicting interpretations of pathogenicity\|uncertain significance	X	15331690	15331690	Human	1	name
13829823	CV580815	single nucleotide variant	NM_002641.4(PIGA):c.1368T>C (p.Asp456=)	Inborn genetic diseases [RCV002318611]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005092090]	likely benign	X	15321593	15321593	Human	2	name
13830500	CV580819	single nucleotide variant	NM_002641.4(PIGA):c.1188G>A (p.Lys396=)	Inborn genetic diseases [RCV002317618]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001512921]\|PIGA-related disorder [RCV003892147]\|not provided [RCV003222120]	benign\|likely benign	X	15324665	15324665	Human	2	name , trait , alternate_id
14396536	CV612338	single nucleotide variant	NM_002641.4(PIGA):c.145G>A (p.Val49Met)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000761517]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV002249463]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	15331786	15331786	Human	2	name
14399025	CV614499	single nucleotide variant	NM_002641.4(PIGA):c.248T>C (p.Leu83Pro)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000768039]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV003224421]	uncertain significance	X	15331683	15331683	Human	2	name
14723770	CV649758	single nucleotide variant	NM_002641.4(PIGA):c.250A>G (p.Thr84Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000798103]	benign\|uncertain significance	X	15331681	15331681	Human	1	name
14720316	CV649759	single nucleotide variant	NM_002641.4(PIGA):c.193C>T (p.His65Tyr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000812987]	likely pathogenic	X	15331738	15331738	Human	1	name
14742362	CV656734	single nucleotide variant	NM_002641.4(PIGA):c.1234C>A (p.Arg412=)	not provided [RCV000841338]	likely benign	X	15321727	15321727	Human		name
15142343	CV758335	single nucleotide variant	NM_002641.4(PIGA):c.1338T>A (p.Thr446=)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001434986]	likely benign	X	15321623	15321623	Human	1	name
15173849	CV789085	single nucleotide variant	NM_002641.4(PIGA):c.247C>G (p.Leu83Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000984472]	uncertain significance	X	15331684	15331684	Human	1	name
21070354	CV798187	single nucleotide variant	NM_002641.4(PIGA):c.230G>A (p.Arg77Gln)	Neurodevelopmental disorder with epilepsy and hemochromatosis [RCV002221259]\|not provided [RCV000999330]	pathogenic\|likely pathogenic	X	15331701	15331701	Human	1	name
25318976	CV816499	single nucleotide variant	NM_002641.4(PIGA):c.166C>G (p.Leu56Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001028012]	uncertain significance	X	15331765	15331765	Human	1	name
26914536	CV849724	single nucleotide variant	NM_002641.4(PIGA):c.242G>A (p.Arg81His)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001055034]\|not provided [RCV005232088]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	15331689	15331689	Human	1	name
38497427	CV951637	single nucleotide variant	NM_002641.4(PIGA):c.238A>G (p.Ile80Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001227061]	uncertain significance	X	15331693	15331693	Human	1	name
38596779	CV963952	single nucleotide variant	NM_002641.4(PIGA):c.287T>C (p.Val96Ala)	Intellectual disability [RCV001252346]	likely benign	X	15331644	15331644	Human	2	name
38596778	CV963953	single nucleotide variant	NM_002641.4(PIGA):c.178C>G (p.Leu60Val)	Intellectual disability [RCV001252345]	uncertain significance	X	15331753	15331753	Human	2	name
126736436	CV1014794	single nucleotide variant	NM_002641.4(PIGA):c.790G>C (p.Glu264Gln)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313854]	uncertain significance	X	15325972	15325972	Human	1	name
126757037	CV1014795	single nucleotide variant	NM_002641.4(PIGA):c.568G>A (p.Glu190Lys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001317368]	uncertain significance	X	15331363	15331363	Human	1	name
126771177	CV1014796	single nucleotide variant	NM_002641.4(PIGA):c.538C>T (p.His180Tyr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001323006]	uncertain significance	X	15331393	15331393	Human	1	name
126735367	CV1014797	single nucleotide variant	NM_002641.4(PIGA):c.433A>G (p.Met145Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313710]	uncertain significance	X	15331498	15331498	Human	1	name
126746705	CV1018925	single nucleotide variant	NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001330948]	uncertain significance	X	15331539	15331539	Human	1	name
126740279	CV1022147	single nucleotide variant	NM_002641.4(PIGA):c.986T>C (p.Val329Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001775167]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV001335962]	likely pathogenic	X	15324867	15324867	Human	2	name
126922311	CV1052310	single nucleotide variant	NM_002641.4(PIGA):c.754C>G (p.Gln252Glu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001364524]	uncertain significance	X	15326008	15326008	Human	1	name
126922373	CV1052311	single nucleotide variant	NM_002641.4(PIGA):c.517G>A (p.Val173Met)	Inborn genetic diseases [RCV002341772]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001364599]	uncertain significance	X	15331414	15331414	Human	2	name
126912484	CV1052312	single nucleotide variant	NM_002641.4(PIGA):c.305C>T (p.Thr102Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001358831]	uncertain significance	X	15331626	15331626	Human	1	name
150409654	CV1196332	single nucleotide variant	NM_002641.4(PIGA):c.665G>A (p.Arg222Lys)	not provided [RCV001572750]	uncertain significance	X	15331266	15331266	Human		name
150554506	CV1304208	single nucleotide variant	NM_002641.4(PIGA):c.892G>T (p.Val298Phe)	not provided [RCV001771178]	uncertain significance	X	15325109	15325109	Human		name
8688846	CV136563	single nucleotide variant	NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119283]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV004820831]\|not provided [RCV000443275]	pathogenic\|likely pathogenic	X	15331576	15331576	Human	2	name
8688849	CV136566	single nucleotide variant	NM_002641.4(PIGA):c.616A>T (p.Ile206Phe)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119286]	pathogenic	X	15331315	15331315	Human	1	name
151789871	CV1392984	single nucleotide variant	NM_002641.4(PIGA):c.677T>C (p.Ile226Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001931310]	uncertain significance	X	15331254	15331254	Human	1	name
151840457	CV1407900	single nucleotide variant	NM_002641.4(PIGA):c.721G>A (p.Asp241Asn)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001881290]\|not provided [RCV002074431]	uncertain significance	X	15326041	15326041	Human	1	name
151871218	CV1413634	single nucleotide variant	NM_002641.4(PIGA):c.514A>G (p.Thr172Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001998363]\|not provided [RCV003222374]	uncertain significance	X	15331417	15331417	Human	1	name
151849603	CV1451953	single nucleotide variant	NM_002641.4(PIGA):c.332C>T (p.Pro111Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002016394]	uncertain significance	X	15331599	15331599	Human	1	name
151867141	CV1468975	single nucleotide variant	NM_002641.4(PIGA):c.853C>T (p.Arg285Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002018486]\|PIGA-related disorder [RCV003984156]\|not provided [RCV005256841]	uncertain significance	X	15325148	15325148	Human	1	name , trait , alternate_id
151782240	CV1486844	single nucleotide variant	NM_002641.4(PIGA):c.400A>G (p.Met134Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001915989]	uncertain significance	X	15331531	15331531	Human	1	name
152153340	CV1667577	single nucleotide variant	NM_002641.4(PIGA):c.380C>T (p.Ser127Leu)	Neurodevelopmental disorder with epilepsy and hemochromatosis [RCV002221186]	pathogenic	X	15331551	15331551	Human	1	name
152983250	CV1678078	single nucleotide variant	NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV004823022]	pathogenic	X	15331581	15331581	Human	1	name
153000425	CV1683033	single nucleotide variant	NM_002641.4(PIGA):c.866C>T (p.Ala289Val)	Inborn genetic diseases [RCV002443275]\|See cases [RCV002253043]	uncertain significance	X	15325135	15325135	Human	1	name
156363890	CV1895564	single nucleotide variant	NM_002641.4(PIGA):c.748C>G (p.Leu250Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003091907]	benign	X	15326014	15326014	Human	1	name
156145398	CV1922959	single nucleotide variant	NM_002641.4(PIGA):c.301T>G (p.Ser101Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002623814]\|not provided [RCV004725556]	uncertain significance	X	15331630	15331630	Human	1	name
156208298	CV2018750	single nucleotide variant	NM_002641.4(PIGA):c.328C>G (p.Leu110Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002700529]	uncertain significance	X	15331603	15331603	Human	1	name
156174947	CV2053530	single nucleotide variant	NM_002641.4(PIGA):c.430A>T (p.Thr144Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002802069]	uncertain significance	X	15331501	15331501	Human	1	name
156006246	CV2064848	single nucleotide variant	NM_002641.4(PIGA):c.446C>T (p.Thr149Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002843641]	uncertain significance	X	15331485	15331485	Human	1	name
156204624	CV2110211	single nucleotide variant	NM_002641.4(PIGA):c.317T>C (p.Leu106Pro)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002957507]	uncertain significance	X	15331614	15331614	Human	1	name
156006207	CV2126586	single nucleotide variant	NM_002641.4(PIGA):c.586G>A (p.Ala196Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002975413]	uncertain significance	X	15331345	15331345	Human	1	name
156077115	CV2170830	single nucleotide variant	NM_002641.4(PIGA):c.371T>A (p.Ile124Lys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003020227]	uncertain significance	X	15331560	15331560	Human	1	name
8598433	CV24999	deletion	NM_002641.4(PIGA):c.1115del (p.Pro372fs)	Paroxysmal nocturnal hemoglobinuria [RCV001799597]	pathogenic	X	15324738	15324738	Human	2	name
329847884	CV2543910	deletion	NM_002641.4(PIGA):c.1139del (p.Ile380fs)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228872]	likely pathogenic	X	15324714	15324714	Human	1	name
401829407	CV2747406	single nucleotide variant	NM_002641.4(PIGA):c.545T>C (p.Ile182Thr)	not provided [RCV003328871]	uncertain significance	X	15331386	15331386	Human		name
401830378	CV2748104	single nucleotide variant	NM_002641.4(PIGA):c.831A>T (p.Arg277Ser)	not provided [RCV003329711]	uncertain significance	X	15325931	15325931	Human		name
401931074	CV2823921	single nucleotide variant	NM_002641.4(PIGA):c.757A>G (p.Lys253Glu)	not provided [RCV003441039]	uncertain significance	X	15326005	15326005	Human		name
401917289	CV2829775	single nucleotide variant	NM_002641.4(PIGA):c.968G>A (p.Ser323Asn)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005100083]\|not provided [RCV003443819]	uncertain significance	X	15325033	15325033	Human	1	name
401964607	CV2848787	single nucleotide variant	NM_002641.4(PIGA):c.847A>G (p.Arg283Gly)	Epileptic encephalopathy [RCV003484990]	likely pathogenic	X	15325915	15325915	Human	2	name
402504101	CV2943040	single nucleotide variant	NM_002641.4(PIGA):c.541A>G (p.Ile181Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645386]	uncertain significance	X	15331390	15331390	Human	1	name
402505582	CV2964936	single nucleotide variant	NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645512]	uncertain significance	X	15331488	15331488	Human	1	name
402506153	CV2973408	single nucleotide variant	NM_002641.4(PIGA):c.342G>C (p.Arg114Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003645569]	uncertain significance	X	15331589	15331589	Human	1	name
402499057	CV3029517	deletion	NM_002641.4(PIGA):c.1028del (p.Asn343fs)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644686]	pathogenic	X	15324825	15324825	Human	1	name
402499595	CV3035253	single nucleotide variant	NM_002641.4(PIGA):c.908A>G (p.His303Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644739]	uncertain significance	X	15325093	15325093	Human	1	name
402499829	CV3043023	single nucleotide variant	NM_002641.4(PIGA):c.682A>G (p.Ile228Val)	Inborn genetic diseases [RCV004654305]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644762]	benign\|likely benign	X	15331249	15331249	Human	2	name
408385135	CV3505746	single nucleotide variant	NM_002641.4(PIGA):c.910A>G (p.Ile304Val)	PIGA-related disorder [RCV004732419]	uncertain significance	X	15325091	15325091	Human		name , trait , alternate_id
408390400	CV3527536	single nucleotide variant	NM_002641.4(PIGA):c.764C>T (p.Pro255Leu)	not provided [RCV004774803]	uncertain significance	X	15325998	15325998	Human		name
408385866	CV3528718	single nucleotide variant	NM_002641.4(PIGA):c.436G>A (p.Gly146Arg)	not provided [RCV004772551]	uncertain significance	X	15331495	15331495	Human		name
597922114	CV3777460	single nucleotide variant	NM_002641.4(PIGA):c.530A>G (p.Asp177Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005130389]	uncertain significance	X	15331401	15331401	Human	1	name
597943275	CV3786412	single nucleotide variant	NM_002641.4(PIGA):c.557A>G (p.Tyr186Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005134103]	uncertain significance	X	15331374	15331374	Human	1	name
597975353	CV3799087	single nucleotide variant	NM_002641.4(PIGA):c.304A>G (p.Thr102Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005144483]	uncertain significance	X	15331627	15331627	Human	1	name
12839875	CV379929	single nucleotide variant	NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	Inborn genetic diseases [RCV002318490]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001851079]\|not provided [RCV000429633]	pathogenic\|uncertain significance	X	15325939	15325939	Human	2	name
12850346	CV380442	single nucleotide variant	NM_002641.4(PIGA):c.395C>G (p.Ser132Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000445622]	likely pathogenic	X	15331536	15331536	Human	1	name
597844661	CV3827501	single nucleotide variant	NM_002641.4(PIGA):c.671A>G (p.Asp224Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005172772]	uncertain significance	X	15331260	15331260	Human	1	name
597938879	CV3852925	single nucleotide variant	NM_002641.4(PIGA):c.707A>T (p.Tyr236Phe)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005187326]	uncertain significance	X	15331224	15331224	Human	1	name
598217795	CV3891576	single nucleotide variant	NM_002641.4(PIGA):c.448G>T (p.Val150Phe)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005252418]	uncertain significance	X	15331483	15331483	Human	1	name
617150126	CV4017174	single nucleotide variant	NM_002641.4(PIGA):c.880G>T (p.Asp294Tyr)	not provided [RCV005416831]	uncertain significance	X	15325121	15325121	Human		name
12901152	CV411149	single nucleotide variant	NM_002641.4(PIGA):c.616A>G (p.Ile206Val)	Inborn genetic diseases [RCV002318585]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002525974]\|not provided [RCV000484035]	likely benign\|uncertain significance	X	15331315	15331315	Human	2	name
12899766	CV411150	single nucleotide variant	NM_002641.4(PIGA):c.613G>A (p.Val205Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001346607]\|Neurodevelopmental abnormality [RCV005241243]\|not provided [RCV000480917]	uncertain significance	X	15331318	15331318	Human	3	name
13211781	CV426413	single nucleotide variant	NM_002641.4(PIGA):c.368C>T (p.Thr123Met)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001341771]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV001249629]\|not provided [RCV000497905]	pathogenic\|likely pathogenic\|uncertain significance	X	15331563	15331563	Human	2	name
13486999	CV446520	single nucleotide variant	NM_002641.4(PIGA):c.307G>A (p.Ala103Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000554054]\|not provided [RCV000523605]	benign\|likely benign\|uncertain significance	X	15331624	15331624	Human	1	name
13498979	CV470535	single nucleotide variant	NM_002641.4(PIGA):c.877A>G (p.Lys293Glu)	Inborn genetic diseases [RCV003278908]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000530991]	benign\|uncertain significance	X	15325124	15325124	Human	2	name
13498800	CV471787	single nucleotide variant	NM_002641.4(PIGA):c.348A>G (p.Ile116Met)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000530217]	uncertain significance	X	15331583	15331583	Human	1	name
13621864	CV534656	single nucleotide variant	NM_002641.4(PIGA):c.761A>G (p.Tyr254Cys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649038]	uncertain significance	X	15326001	15326001	Human	1	name
13819018	CV575348	single nucleotide variant	NM_002641.4(PIGA):c.854G>A (p.Arg285His)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000694082]\|not specified [RCV005407893]	uncertain significance	X	15325147	15325147	Human	1	name
13822254	CV575349	single nucleotide variant	NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000697028]\|not provided [RCV005253077]	uncertain significance	X	15331450	15331450	Human	1	name
13817332	CV575350	single nucleotide variant	NM_002641.4(PIGA):c.342G>T (p.Arg114Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000692952]	uncertain significance	X	15331589	15331589	Human	1	name
13830096	CV580675	single nucleotide variant	NM_002641.4(PIGA):c.955G>A (p.Val319Met)	Inborn genetic diseases [RCV002316710]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000990473]	uncertain significance	X	15325046	15325046	Human	2	name
13835644	CV586907	single nucleotide variant	NM_002641.4(PIGA):c.424G>A (p.Ala142Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002535212]\|not provided [RCV000731506]\|not specified [RCV003987687]	uncertain significance	X	15331507	15331507	Human	1	name
14715902	CV649754	single nucleotide variant	NM_002641.4(PIGA):c.908A>C (p.His303Pro)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000811393]	uncertain significance	X	15325093	15325093	Human	1	name
14719972	CV649755	single nucleotide variant	NM_002641.4(PIGA):c.661A>G (p.Arg221Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000812835]	uncertain significance	X	15331270	15331270	Human	1	name
14717255	CV649756	single nucleotide variant	NM_002641.4(PIGA):c.526T>G (p.Cys176Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000811831]	uncertain significance	X	15331405	15331405	Human	1	name
14741771	CV649757	single nucleotide variant	NM_002641.4(PIGA):c.407A>G (p.His136Arg)	Inborn genetic diseases [RCV002319915]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000822383]	uncertain significance	X	15331524	15331524	Human	2	name
21070350	CV798186	single nucleotide variant	NM_002641.4(PIGA):c.985G>T (p.Val329Leu)	not provided [RCV000999329]	uncertain significance	X	15324868	15324868	Human		name
21404289	CV802044	single nucleotide variant	NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001004672]\|PIGA-related disorder [RCV003983820]\|not provided [RCV001552602]	pathogenic\|likely pathogenic\|uncertain significance	X	15331575	15331575	Human	1	name , trait , alternate_id
25320313	CV806161	deletion	NM_002641.4(PIGA):c.1159del (p.Trp387fs)	not provided [RCV001009173]	likely pathogenic	X	15324694	15324694	Human		name
26917098	CV849721	single nucleotide variant	NM_002641.4(PIGA):c.783T>G (p.Ile261Met)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001042425]	uncertain significance	X	15325979	15325979	Human	1	name
26916832	CV849722	single nucleotide variant	NM_002641.4(PIGA):c.676A>G (p.Ile226Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001056609]	uncertain significance	X	15331255	15331255	Human	1	name
26912841	CV849723	single nucleotide variant	NM_002641.4(PIGA):c.300G>T (p.Gln100His)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001053870]	uncertain significance	X	15331631	15331631	Human	1	name
38474072	CV929596	single nucleotide variant	NM_002641.4(PIGA):c.599C>T (p.Pro200Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001214586]	uncertain significance	X	15331332	15331332	Human	1	name
38478767	CV929597	single nucleotide variant	NM_002641.4(PIGA):c.565A>G (p.Lys189Glu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001216760]	uncertain significance	X	15331366	15331366	Human	1	name
38477097	CV939464	single nucleotide variant	NM_002641.4(PIGA):c.322C>A (p.His108Asn)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001204938]	uncertain significance	X	15331609	15331609	Human	1	name
38477755	CV951636	single nucleotide variant	NM_002641.4(PIGA):c.640G>C (p.Asp214His)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001233613]\|not provided [RCV003328663]	uncertain significance	X	15331291	15331291	Human	1	name
126756996	CV999639	single nucleotide variant	NM_002641.4(PIGA):c.680C>G (p.Thr227Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001298754]	uncertain significance	X	15331251	15331251	Human	1	name
126732280	CV1014792	single nucleotide variant	NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313189]	uncertain significance	X	15321574	15321574	Human	1	name
126733072	CV1014793	single nucleotide variant	NM_002641.4(PIGA):c.1255C>T (p.His419Tyr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313328]	uncertain significance	X	15321706	15321706	Human	1	name
126915043	CV1052307	single nucleotide variant	NM_002641.4(PIGA):c.1222C>T (p.Pro408Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001359756]	uncertain significance	X	15321739	15321739	Human	1	name
126921544	CV1052308	single nucleotide variant	NM_002641.4(PIGA):c.1201G>A (p.Val401Ile)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001363616]\|not specified [RCV003479319]	uncertain significance	X	15321760	15321760	Human	1	name
126917682	CV1052309	single nucleotide variant	NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001361307]\|not provided [RCV003148983]	uncertain significance	X	15324831	15324831	Human	1	name
126908276	CV1052646	single nucleotide variant	NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001374411]\|PIGA-related disorder [RCV005232298]\|not provided [RCV001576089]	pathogenic\|likely pathogenic	X	15321609	15321609	Human	1	name , trait , alternate_id
150423357	CV1185742	single nucleotide variant	NM_002641.4(PIGA):c.1434T>G (p.Asn478Lys)	not provided [RCV001555207]	likely benign	X	15321527	15321527	Human		name
150435390	CV1244402	single nucleotide variant	NM_002641.4(PIGA):c.1061C>A (p.Ser354Tyr)	not provided [RCV001665393]	uncertain significance	X	15324792	15324792	Human		name
151776504	CV1399047	single nucleotide variant	NM_002641.4(PIGA):c.1315C>G (p.Leu439Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001930026]\|not provided [RCV003313243]	uncertain significance	X	15321646	15321646	Human	1	name
151764455	CV1407673	single nucleotide variant	NM_002641.4(PIGA):c.1131C>G (p.Ile377Met)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002044638]	uncertain significance	X	15324722	15324722	Human	1	name
151878593	CV1416217	single nucleotide variant	NM_002641.4(PIGA):c.1159T>A (p.Trp387Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001926141]	uncertain significance	X	15324694	15324694	Human	1	name
151834715	CV1419940	single nucleotide variant	NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001977010]\|not provided [RCV002463093]	uncertain significance	X	15321757	15321757	Human	1	name
151870513	CV1476922	single nucleotide variant	NM_002641.4(PIGA):c.1225A>G (p.Met409Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001925142]	uncertain significance	X	15321736	15321736	Human	1	name
151833799	CV1493256	single nucleotide variant	NM_002641.4(PIGA):c.1201G>C (p.Val401Leu)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001935321]	uncertain significance	X	15321760	15321760	Human	1	name
152105480	CV1609493	single nucleotide variant	NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002115881]	benign	X	15324714	15324714	Human	1	name
152033099	CV1610280	single nucleotide variant	NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys)	Inborn genetic diseases [RCV003015357]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002124871]	benign\|likely benign	X	15321558	15321558	Human	2	name
155716867	CV1775381	single nucleotide variant	NM_002641.4(PIGA):c.1063T>A (p.Leu355Met)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002301078]	uncertain significance	X	15324790	15324790	Human	1	name
155797025	CV1863133	single nucleotide variant	NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002470407]\|not provided [RCV004809843]	uncertain significance	X	15324766	15324766	Human	1	name
156309655	CV1895232	single nucleotide variant	NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003088365]	uncertain significance	X	15321642	15321642	Human	1	name
155961935	CV1936576	single nucleotide variant	NM_002641.4(PIGA):c.1223C>G (p.Pro408Arg)	not provided [RCV002512395]	uncertain significance	X	15321738	15321738	Human		name
10052774	CV195311	single nucleotide variant	NM_002641.4(PIGA):c.1202T>A (p.Val401Glu)	not provided [RCV000179409]	uncertain significance	X	15321759	15321759	Human		name
155995258	CV2060149	single nucleotide variant	NM_002641.4(PIGA):c.1135A>G (p.Asn379Asp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002819392]	uncertain significance	X	15324718	15324718	Human	1	name
156013342	CV2071991	single nucleotide variant	NM_002641.4(PIGA):c.1348A>G (p.Ile450Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002843996]	uncertain significance	X	15321613	15321613	Human	1	name
156114767	CV2104574	single nucleotide variant	NM_002641.4(PIGA):c.1363A>G (p.Ile455Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002927580]	uncertain significance	X	15321598	15321598	Human	1	name
156217569	CV2107131	single nucleotide variant	NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002918425]	uncertain significance	X	15324826	15324826	Human	1	name
156044841	CV2143642	single nucleotide variant	NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002999668]	benign\|uncertain significance	X	15321535	15321535	Human	1	name
155951717	CV2238830	single nucleotide variant	NM_002641.4(PIGA):c.1223C>T (p.Pro408Leu)	Inborn genetic diseases [RCV002753116]	uncertain significance	X	15321738	15321738	Human	1	name
329393666	CV2449783	single nucleotide variant	NM_002641.4(PIGA):c.1424G>T (p.Gly475Val)	Inborn genetic diseases [RCV003193287]	uncertain significance	X	15321537	15321537	Human	1	name
329379348	CV2456215	single nucleotide variant	NM_002641.4(PIGA):c.1240G>A (p.Asp414Asn)	Inborn genetic diseases [RCV003212451]	uncertain significance	X	15321721	15321721	Human	1	name
401915602	CV2795307	single nucleotide variant	NM_002641.4(PIGA):c.1031T>G (p.Leu344Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003389140]	uncertain significance	X	15324822	15324822	Human	1	name
401920165	CV2796461	single nucleotide variant	NM_002641.4(PIGA):c.1127A>G (p.Asn376Ser)	PIGA-related disorder [RCV003402497]	uncertain significance	X	15324726	15324726	Human		name , trait , alternate_id
404981267	CV2850784	single nucleotide variant	NM_002641.4(PIGA):c.1332G>T (p.Trp444Cys)	not provided [RCV003488257]	uncertain significance	X	15321629	15321629	Human		name
402500030	CV3055734	single nucleotide variant	NM_002641.4(PIGA):c.1213G>C (p.Ala405Pro)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003644783]	uncertain significance	X	15321748	15321748	Human	1	name
405279452	CV3217458	single nucleotide variant	NM_002641.4(PIGA):c.1030C>G (p.Leu344Val)	PIGA-related disorder [RCV003976867]	uncertain significance	X	15324823	15324823	Human		name , trait , alternate_id
596943469	CV3542949	single nucleotide variant	NM_002641.4(PIGA):c.1226T>A (p.Met409Lys)	not provided [RCV004798534]	uncertain significance	X	15321735	15321735	Human		name
597935197	CV3759381	single nucleotide variant	NM_002641.4(PIGA):c.1433A>G (p.Asn478Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005076501]	uncertain significance	X	15321528	15321528	Human	1	name
12848437	CV379928	single nucleotide variant	NM_002641.4(PIGA):c.1214C>T (p.Ala405Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000541463]\|not provided [RCV001698229]	benign\|likely benign	X	15321747	15321747	Human	1	name
12854181	CV384425	single nucleotide variant	NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000449490]	likely pathogenic\|conflicting interpretations of pathogenicity	X	15324670	15324670	Human	1	name
597968231	CV3853405	single nucleotide variant	NM_002641.4(PIGA):c.1065G>T (p.Leu355Phe)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV005195047]	uncertain significance	X	15324788	15324788	Human	1	name
8568049	CV38943	single nucleotide variant	NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000022881]\|not provided [RCV001007979]	pathogenic	X	15321727	15321727	Human	1	name
13445856	CV438433	single nucleotide variant	NM_002641.4(PIGA):c.1031T>C (p.Leu344Pro)	Neurodevelopmental disorder with epilepsy and hemochromatosis [RCV002221237]\|not provided [RCV000512946]	pathogenic\|uncertain significance	X	15324822	15324822	Human	1	name
13476697	CV446519	single nucleotide variant	NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001851494]\|PIGA-related disorder [RCV003900088]\|not provided [RCV000520216]	uncertain significance	X	15321763	15321763	Human	1	name , trait , alternate_id
13498438	CV471783	single nucleotide variant	NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000528864]\|Paroxysmal nocturnal hemoglobinuria 1 [RCV000766085]\|not provided [RCV001566346]	uncertain significance	X	15324805	15324805	Human	2	name
13537190	CV507782	single nucleotide variant	NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg)	Inborn genetic diseases [RCV002311957]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649040]\|not provided [RCV001755991]	benign\|likely benign	X	15321541	15321541	Human	2	name
13533012	CV512603	single nucleotide variant	NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln)	Inborn genetic diseases [RCV000624780]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001522945]	benign\|uncertain significance	X	15321579	15321579	Human	2	name
13621865	CV534644	single nucleotide variant	NM_002641.4(PIGA):c.1447A>G (p.Thr483Ala)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649039]	uncertain significance	X	15321514	15321514	Human	1	name
13621862	CV534646	single nucleotide variant	NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649036]	uncertain significance	X	15321592	15321592	Human	1	name
14746605	CV573636	single nucleotide variant	NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001063758]\|PIGA-related disorder [RCV003413667]\|not provided [RCV000841232]	likely benign\|uncertain significance	X	15321580	15321580	Human	1	name , trait , alternate_id
14709707	CV649753	single nucleotide variant	NM_002641.4(PIGA):c.1427A>G (p.Glu476Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000809416]	uncertain significance	X	15321534	15321534	Human	1	name
15185874	CV706139	single nucleotide variant	NM_002641.4(PIGA):c.1346C>G (p.Ser449Cys)	not provided [RCV000953113]	likely benign	X	15321615	15321615	Human		name
15179763	CV717696	single nucleotide variant	NM_002641.4(PIGA):c.1421G>T (p.Gly474Val)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000973987]\|not provided [RCV001702578]	benign\|likely benign	X	15321540	15321540	Human	1	name
21073324	CV792138	single nucleotide variant	NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000990472]	conflicting interpretations of pathogenicity\|uncertain significance	X	15321726	15321726	Human	1	name
26898080	CV822217	single nucleotide variant	NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001034403]\|not provided [RCV004590029]	benign\|uncertain significance	X	15324807	15324807	Human	1	name
26888803	CV849717	single nucleotide variant	NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001067235]	pathogenic\|likely pathogenic	X	15321607	15321607	Human	1	name
26921463	CV849718	single nucleotide variant	NM_002641.4(PIGA):c.1240G>C (p.Asp414His)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001061021]	uncertain significance	X	15321721	15321721	Human	1	name
26912602	CV849719	single nucleotide variant	NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001039494]	uncertain significance	X	15324669	15324669	Human	1	name
26900300	CV849720	single nucleotide variant	NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly)	Inborn genetic diseases [RCV005384935]\|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001071233]	uncertain significance	X	15324676	15324676	Human	2	name
38473729	CV959183	single nucleotide variant	NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001248167]	uncertain significance	X	15321543	15321543	Human	1	name
38464429	CV961636	single nucleotide variant	NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)	Paroxysmal nocturnal hemoglobinuria 1 [RCV001249628]	likely pathogenic	X	15321606	15321606	Human	1	name
40886413	CV972803	single nucleotide variant	NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001264801]	uncertain significance	X	15321700	15321700	Human	1	name
126751907	CV999638	single nucleotide variant	NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001297619]\|not provided [RCV001751566]	uncertain significance	X	15321762	15321762	Human	1	name
329847879	CV2543903	deletion	NM_002641.4(PIGA):c.196_206del (p.Lys66fs)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228865]	likely pathogenic	X	15331725	15331735	Human	1	name
329847882	CV2543908	deletion	NM_002641.4(PIGA):c.151_187del (p.Ser51fs)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003228870]	likely pathogenic	X	15331744	15331780	Human	1	name
153303410	CV1686218	microsatellite	NM_002641.4(PIGA):c.684TGT[2] (p.Val231del)	not provided [RCV002261651]	uncertain significance	X	15331239	15331241	Human		name
8598432	CV24998	insertion	NM_002641.4(PIGA):c.459_460insA (p.His154fs)	Paroxysmal nocturnal hemoglobinuria [RCV001799596]	pathogenic	X	15331471	15331472	Human	2	name
8598435	CV25001	insertion	NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs)	Paroxysmal nocturnal hemoglobinuria [RCV001799599]	pathogenic	X	15331681	15331682	Human	2	name
243053000	CV2418070	deletion	NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)	Paroxysmal nocturnal hemoglobinuria 1 [RCV003153135]	likely pathogenic	X	15321679	15321680	Human	1	name
8598437	CV25003	deletion	NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs)	Paroxysmal nocturnal hemoglobinuria [RCV001799601]	pathogenic	X	15321637	15321638	Human	2	name
21073323	CV792137	duplication	NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000990471]	likely pathogenic	X	15321567	15321568	Human	1	name
8688850	CV136567	deletion	NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV002281561]\|Neurodevelopmental disorder with epilepsy and hemochromatosis [RCV002221150]\|not provided [RCV000478249]	pathogenic	X	15324821	15324823	Human	2	name
405053515	CV2925397	deletion	NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003531373]\|not provided [RCV004798050]	uncertain significance	X	15321560	15321562	Human	1	name
38477176	CV929595	deletion	NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001216019]	uncertain significance	X	15324714	15324722	Human	1	name
150541464	CV1298801	indel	NM_002641.4(PIGA):c.1223_1228delinsTTCCACTGATAA (p.Pro408_Asp410delinsLeuProLeuIleAsn)	not provided [RCV001760949]	uncertain significance	X	15321733	15321738	Human		name
8598439	CV25005	insertion	NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer)	Paroxysmal nocturnal hemoglobinuria [RCV001799603]	pathogenic	X	15321605	15321606	Human	2	name

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