Pola1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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776 records found for search term Pola1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11522846	CV244124	single nucleotide variant	POLA1, IVS13, A-G	Pigmentary disorder, reticulate, with systemic manifestations [RCV000235091]\|Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV000235091]	pathogenic				Human		name
151352675	CV1325498	single nucleotide variant	NM_016937.3(POLA1):c.-62G>A	not provided [RCV001814784]	uncertain significance	X	24693900	24693900	Human		name
151827919	CV1437959	single nucleotide variant	NM_001330360.2(POLA1):c.44-2A>G	not provided [RCV001920205]	uncertain significance	X	24699423	24699423	Human		name
405235479	CV3040772	single nucleotide variant	NM_001330360.2(POLA1):c.44-1G>T	not provided [RCV003712186]	uncertain significance	X	24699424	24699424	Human		name
407572694	CV3497176	single nucleotide variant	NM_001330360.2(POLA1):c.*503C>G	not provided [RCV004698996]	uncertain significance	X	24996453	24996453	Human		name
14692871	CV615990	deletion	NM_016937.3(POLA1):c.445_507del	X-linked intellectual disability, van Esch type [RCV000791332]	pathogenic	X	24715139	24715201	Human	1	name
151232605	CV1161875	single nucleotide variant	NM_001330360.2(POLA1):c.463-2A>T	X-linked intellectual disability, van Esch type [RCV001786494]	pathogenic	X	24715139	24715139	Human	1	name
151726146	CV1339638	single nucleotide variant	NM_001330360.2(POLA1):c.347-7C>G	not provided [RCV002004283]	likely benign\|uncertain significance	X	24714547	24714547	Human		name
152052646	CV1523614	single nucleotide variant	NM_001330360.2(POLA1):c.266-6C>T	not provided [RCV002127425]	benign	X	24704383	24704383	Human		name
152080752	CV1589305	single nucleotide variant	NM_001330360.2(POLA1):c.707-4A>G	not provided [RCV002112719]	likely benign	X	24717286	24717286	Human		name
152074809	CV1599283	single nucleotide variant	NM_001330360.2(POLA1):c.265+8G>A	not provided [RCV002075585]	likely benign	X	24703355	24703355	Human		name
152125918	CV1665857	single nucleotide variant	NM_001330360.2(POLA1):c.463-9C>T	X-linked intellectual disability, van Esch type [RCV002466743]\|not provided [RCV002198670]	likely benign\|uncertain significance	X	24715132	24715132	Human	1	name
156079498	CV1908843	single nucleotide variant	NM_001330360.2(POLA1):c.347-3T>C	not provided [RCV002591530]	uncertain significance	X	24714551	24714551	Human		name
156219444	CV2067800	single nucleotide variant	NM_001330360.2(POLA1):c.463-3C>T	not provided [RCV002829629]	uncertain significance	X	24715138	24715138	Human		name
401870985	CV2749456	duplication	NM_001330360.2(POLA1):c.526-2dup	not provided [RCV003332584]	uncertain significance	X	24716359	24716360	Human		name
404979941	CV3009757	single nucleotide variant	NM_001330360.2(POLA1):c.169-4G>T	not provided [RCV003691056]	uncertain significance	X	24703247	24703247	Human		name
402483508	CV3171175	single nucleotide variant	NM_001330360.2(POLA1):c.619-9C>T	not provided [RCV003876202]	likely benign	X	24716875	24716875	Human		name
597938383	CV3775077	single nucleotide variant	NM_001330360.2(POLA1):c.44-17T>G	not provided [RCV005117903]	likely benign	X	24699408	24699408	Human		name
597877505	CV3776030	single nucleotide variant	NM_001330360.2(POLA1):c.346+7A>G	not provided [RCV005123557]	likely benign	X	24704476	24704476	Human		name
597935599	CV3811366	single nucleotide variant	NM_001330360.2(POLA1):c.618+6G>T	not provided [RCV005157881]	uncertain significance	X	24716460	24716460	Human		name
597960569	CV3811926	single nucleotide variant	NM_001330360.2(POLA1):c.619-8G>A	not provided [RCV005163579]	likely benign	X	24716876	24716876	Human		name
597900418	CV3855017	single nucleotide variant	NM_001330360.2(POLA1):c.707-3C>T	not provided [RCV005201926]	uncertain significance	X	24717287	24717287	Human		name
14692870	CV615991	single nucleotide variant	NM_001330360.2(POLA1):c.525+1G>A	X-linked intellectual disability, van Esch type [RCV000791331]	pathogenic	X	24715204	24715204	Human	1	name
126908202	CV1052386	single nucleotide variant	NM_001330360.2(POLA1):c.2347-3T>C	not provided [RCV001367699]	benign\|uncertain significance	X	24741999	24741999	Human		name
127308080	CV1159548	duplication	NM_001330360.2(POLA1):c.1834-9dup	POLA1-related disorder [RCV003940940]\|not provided [RCV001517351]	benign\|likely benign	X	24735389	24735390	Human	1	name , trait , alternate_id
127292132	CV1159553	single nucleotide variant	NM_001330360.2(POLA1):c.3430-9C>G	not provided [RCV001510728]	benign	X	24821443	24821443	Human		name
151795552	CV1434485	single nucleotide variant	NM_001330360.2(POLA1):c.1200+4A>G	not provided [RCV001866648]	uncertain significance	X	24723271	24723271	Human		name
151764530	CV1447667	single nucleotide variant	NM_001330360.2(POLA1):c.1834-3C>T	X-linked intellectual disability, van Esch type [RCV002290789]\|not provided [RCV001895721]	uncertain significance	X	24735396	24735396	Human	1	name
151793493	CV1467738	single nucleotide variant	NM_001330360.2(POLA1):c.4261+5G>A	not provided [RCV001931642]	benign\|uncertain significance	X	24930554	24930554	Human		name
151738527	CV1469572	single nucleotide variant	NM_001330360.2(POLA1):c.3090+6A>G	not provided [RCV002041992]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	24810806	24810806	Human		name
151741569	CV1470081	single nucleotide variant	NM_001330360.2(POLA1):c.2841+6T>C	not provided [RCV001871068]	benign\|uncertain significance	X	24748466	24748466	Human		name
152111757	CV1520461	single nucleotide variant	NM_001330360.2(POLA1):c.2467-5A>G	not provided [RCV002196867]	likely benign	X	24743225	24743225	Human		name
152142304	CV1554166	single nucleotide variant	NM_001330360.2(POLA1):c.4261+4C>T	not provided [RCV002100942]	likely benign	X	24930553	24930553	Human		name
152127845	CV1554279	single nucleotide variant	NM_001330360.2(POLA1):c.707-19T>C	not provided [RCV002176400]	benign	X	24717271	24717271	Human		name
152135149	CV1571778	single nucleotide variant	NM_001330360.2(POLA1):c.169-15C>T	not provided [RCV002177323]	likely benign	X	24703236	24703236	Human		name
152065470	CV1583437	single nucleotide variant	NM_001330360.2(POLA1):c.1833+9C>A	not provided [RCV002110725]	likely benign	X	24733825	24733825	Human		name
152028406	CV1586894	single nucleotide variant	NM_001330360.2(POLA1):c.707-20A>T	not provided [RCV002085454]	likely benign	X	24717270	24717270	Human		name
152162478	CV1606323	single nucleotide variant	NM_001330360.2(POLA1):c.265+20G>A	not provided [RCV002181167]	likely benign	X	24703367	24703367	Human		name
152169180	CV1614108	single nucleotide variant	NM_001330360.2(POLA1):c.3297-4G>A	not provided [RCV002161358]	benign	X	24814975	24814975	Human		name
152097600	CV1650199	single nucleotide variant	NM_001330360.2(POLA1):c.526-13C>T	not provided [RCV002114897]	likely benign	X	24716349	24716349	Human		name
152053373	CV1651525	single nucleotide variant	NM_001330360.2(POLA1):c.1392+7C>T	not provided [RCV002145954]	likely benign	X	24726062	24726062	Human		name
152983314	CV1678137	single nucleotide variant	NM_001330360.2(POLA1):c.169-10A>G	not provided [RCV003101346]\|not specified [RCV002250293]	benign\|likely benign	X	24703241	24703241	Human		name
156070663	CV1893395	single nucleotide variant	NM_001330360.2(POLA1):c.1833+9C>T	not provided [RCV003079527]	likely benign	X	24733825	24733825	Human		name
156449596	CV1941857	single nucleotide variant	NM_001330360.2(POLA1):c.1200+7A>G	not provided [RCV003121721]	benign	X	24723274	24723274	Human		name
155980270	CV1972381	single nucleotide variant	NM_001330360.2(POLA1):c.265+11C>T	not provided [RCV002617568]	likely benign	X	24703358	24703358	Human		name
155910006	CV1980066	single nucleotide variant	NM_001330360.2(POLA1):c.347-16A>C	not provided [RCV002613916]	likely benign	X	24714538	24714538	Human		name
156319892	CV2014401	single nucleotide variant	NM_001330360.2(POLA1):c.707-10A>G	not provided [RCV002672120]	likely benign	X	24717280	24717280	Human		name
155946445	CV2028944	single nucleotide variant	NM_001330360.2(POLA1):c.2041-4G>A	not provided [RCV002730432]	likely benign	X	24739371	24739371	Human		name
156051901	CV2060090	single nucleotide variant	NM_001330360.2(POLA1):c.346+18T>G	not provided [RCV002796796]	likely benign	X	24704487	24704487	Human		name
156309875	CV2109474	single nucleotide variant	NM_001330360.2(POLA1):c.3296+8C>T	not provided [RCV002923010]	benign	X	24812871	24812871	Human		name
156117287	CV2111211	single nucleotide variant	NM_001330360.2(POLA1):c.707-13A>G	not provided [RCV002914019]	benign	X	24717277	24717277	Human		name
155904843	CV2137637	single nucleotide variant	NM_001330360.2(POLA1):c.2567-4T>A	not provided [RCV003011856]	likely benign	X	24745414	24745414	Human		name
401918854	CV2821388	single nucleotide variant	NM_001330360.2(POLA1):c.2347-7T>G	not provided [RCV003430479]	uncertain significance	X	24741995	24741995	Human		name
405177857	CV2861156	single nucleotide variant	NM_001330360.2(POLA1):c.1318-5C>T	not provided [RCV003542920]	likely benign	X	24725976	24725976	Human		name
405232991	CV2896448	duplication	NM_001330360.2(POLA1):c.168+10dup	not provided [RCV003555748]	likely benign	X	24699557	24699558	Human		name
405066210	CV2923711	single nucleotide variant	NM_001330360.2(POLA1):c.265+13G>A	not provided [RCV003580829]	likely benign	X	24703360	24703360	Human		name
405194656	CV2925758	single nucleotide variant	NM_001330360.2(POLA1):c.3430-4T>C	not provided [RCV003565239]	likely benign	X	24821448	24821448	Human		name
405183826	CV2952918	single nucleotide variant	NM_001330360.2(POLA1):c.2040+7A>G	not provided [RCV003676525]	likely benign	X	24737748	24737748	Human		name
405217842	CV2968581	single nucleotide variant	NM_001330360.2(POLA1):c.2566+6G>A	POLA1-related disorder [RCV003901253]\|not provided [RCV003680259]	likely benign\|uncertain significance	X	24743335	24743335	Human	1	name , trait , alternate_id
404989204	CV2998651	single nucleotide variant	NM_001330360.2(POLA1):c.462+17C>T	not provided [RCV003692125]	likely benign	X	24714686	24714686	Human		name
402498746	CV3015969	single nucleotide variant	NM_001330360.2(POLA1):c.265+16G>A	not provided [RCV003688273]	likely benign	X	24703363	24703363	Human		name
405133533	CV3018335	single nucleotide variant	NM_001330360.2(POLA1):c.1317+3T>C	not provided [RCV003701907]	uncertain significance	X	24724454	24724454	Human		name
402506187	CV3039120	single nucleotide variant	NM_001330360.2(POLA1):c.3736+3A>G	not provided [RCV003715222]	uncertain significance	X	24826604	24826604	Human		name
405224129	CV3058067	single nucleotide variant	NM_001330360.2(POLA1):c.3091-4A>C	not provided [RCV003733761]	likely benign	X	24812654	24812654	Human		name
405235991	CV3079586	single nucleotide variant	NM_001330360.2(POLA1):c.3916-5T>C	not provided [RCV003735910]	likely benign	X	24843541	24843541	Human		name
405115376	CV3115496	single nucleotide variant	NM_001330360.2(POLA1):c.1200+3A>G	not provided [RCV003814178]	uncertain significance	X	24723270	24723270	Human		name
405004181	CV3120722	single nucleotide variant	NM_001330360.2(POLA1):c.909-13G>T	not provided [RCV003828325]	benign	X	24717567	24717567	Human		name
405212585	CV3127522	single nucleotide variant	NM_001330360.2(POLA1):c.1201-8G>T	not provided [RCV003823570]	likely benign	X	24724327	24724327	Human		name
405048817	CV3137921	single nucleotide variant	NM_001330360.2(POLA1):c.1834-8T>C	not provided [RCV003831959]	likely benign	X	24735391	24735391	Human		name
405237526	CV3166642	single nucleotide variant	NM_001330360.2(POLA1):c.2964+9C>T	not provided [RCV003854092]	likely benign	X	24749001	24749001	Human		name
405237696	CV3166913	single nucleotide variant	NM_001330360.2(POLA1):c.525+17G>A	not provided [RCV003854167]	likely benign	X	24715220	24715220	Human		name
405083469	CV3167135	single nucleotide variant	NM_001330360.2(POLA1):c.265+17T>G	not provided [RCV003851714]	likely benign	X	24703364	24703364	Human		name
407457106	CV3416053	single nucleotide variant	NM_001330360.2(POLA1):c.2216+4T>G	not provided [RCV004598930]	uncertain significance	X	24739554	24739554	Human		name
597873284	CV3747309	single nucleotide variant	NM_001330360.2(POLA1):c.4048-6C>T	not provided [RCV005068993]	likely benign	X	24888000	24888000	Human		name
597956575	CV3754672	single nucleotide variant	NM_001330360.2(POLA1):c.265+12G>T	not provided [RCV005080522]	likely benign	X	24703359	24703359	Human		name
597972899	CV3790752	single nucleotide variant	NM_001330360.2(POLA1):c.3090+8A>C	not provided [RCV005142967]	likely benign	X	24810808	24810808	Human		name
597954869	CV3809353	single nucleotide variant	NM_001330360.2(POLA1):c.2040+9A>T	not provided [RCV005162077]	likely benign	X	24737750	24737750	Human		name
597879004	CV3813765	single nucleotide variant	NM_001330360.2(POLA1):c.168+17C>T	not provided [RCV005149507]	likely benign	X	24699566	24699566	Human		name
597859300	CV3817132	single nucleotide variant	NM_001330360.2(POLA1):c.2566+6G>C	not provided [RCV005146513]	uncertain significance	X	24743335	24743335	Human		name
597928850	CV3851845	single nucleotide variant	NM_001330360.2(POLA1):c.618+19C>A	not provided [RCV005206313]	likely benign	X	24716473	24716473	Human		name
15107092	CV780099	single nucleotide variant	NM_001330360.2(POLA1):c.1393-9C>T	not provided [RCV000960215]	likely benign	X	24726924	24726924	Human		name
15182589	CV780185	single nucleotide variant	NM_001330360.2(POLA1):c.3297-4G>T	not provided [RCV000974668]	likely benign	X	24814975	24814975	Human		name
127308943	CV1150654	single nucleotide variant	NM_001330360.2(POLA1):c.1833+11C>T	not provided [RCV001500898]	likely benign	X	24733827	24733827	Human		name
127306550	CV1159546	single nucleotide variant	NM_001330360.2(POLA1):c.1532-12A>G	not provided [RCV001516671]	benign	X	24727770	24727770	Human		name
127322153	CV1159547	single nucleotide variant	NM_001330360.2(POLA1):c.1687-15C>T	X-linked reticulate pigmentary disorder [RCV002506640]\|not provided [RCV001523389]	benign\|likely benign	X	24732355	24732355	Human	1	name
127299378	CV1159556	single nucleotide variant	NM_001330360.2(POLA1):c.4262-16C>G	not provided [RCV001513657]	benign	X	24995789	24995789	Human		name
150554999	CV1309989	single nucleotide variant	NM_001330360.2(POLA1):c.1392+11C>G	not provided [RCV003237998]	uncertain significance	X	24726066	24726066	Human		name
151814090	CV1382294	single nucleotide variant	NM_001330360.2(POLA1):c.1531+11A>G	not provided [RCV001992112]	likely benign\|uncertain significance	X	24727082	24727082	Human		name
152122578	CV1521639	single nucleotide variant	NM_001330360.2(POLA1):c.4047+11A>G	not provided [RCV002135898]	likely benign	X	24843688	24843688	Human		name
152116808	CV1541042	single nucleotide variant	NM_001330360.2(POLA1):c.3916-16C>T	not provided [RCV002197501]	likely benign\|conflicting interpretations of pathogenicity	X	24843530	24843530	Human		name
152071921	CV1544548	single nucleotide variant	NM_001330360.2(POLA1):c.1200+13G>A	not provided [RCV002129723]	benign	X	24723280	24723280	Human		name
152152461	CV1545906	duplication	NM_001330360.2(POLA1):c.1772-12dup	not provided [RCV002179665]	benign	X	24733735	24733736	Human		name
152041518	CV1558199	single nucleotide variant	NM_001330360.2(POLA1):c.1531+15A>G	not provided [RCV002126154]	likely benign	X	24727086	24727086	Human		name
152140967	CV1571351	single nucleotide variant	NM_001330360.2(POLA1):c.2566+15T>C	not provided [RCV002138169]	likely benign	X	24743344	24743344	Human		name
152172430	CV1575832	single nucleotide variant	NM_001330360.2(POLA1):c.2216+18T>G	not provided [RCV002183836]	likely benign	X	24739568	24739568	Human		name
152170647	CV1578314	single nucleotide variant	NM_001330360.2(POLA1):c.3916-20A>G	not provided [RCV002183226]	likely benign	X	24843526	24843526	Human		name
152070780	CV1581307	single nucleotide variant	NM_001330360.2(POLA1):c.2567-19C>T	not provided [RCV002091558]	likely benign	X	24745399	24745399	Human		name
152096487	CV1583570	single nucleotide variant	NM_001330360.2(POLA1):c.1834-17G>A	not provided [RCV002132702]	likely benign	X	24735382	24735382	Human		name
152035238	CV1584870	single nucleotide variant	NM_001330360.2(POLA1):c.2217-17C>T	not provided [RCV002125221]	likely benign	X	24741358	24741358	Human		name
152128350	CV1596536	single nucleotide variant	NM_001330360.2(POLA1):c.3736+13A>G	not provided [RCV002118747]	likely benign	X	24826614	24826614	Human		name
152171899	CV1598875	single nucleotide variant	NM_001330360.2(POLA1):c.1531+16T>C	not provided [RCV002143592]	likely benign	X	24727087	24727087	Human		name
152035660	CV1604224	single nucleotide variant	NM_001330360.2(POLA1):c.3429+10G>A	not provided [RCV002087161]	likely benign	X	24815121	24815121	Human		name
152099968	CV1606645	single nucleotide variant	NM_001330360.2(POLA1):c.1531+13A>T	not provided [RCV002195422]	likely benign	X	24727084	24727084	Human		name
152156134	CV1615713	single nucleotide variant	NM_001330360.2(POLA1):c.3297-16T>G	not provided [RCV002158875]	likely benign	X	24814963	24814963	Human		name
152092845	CV1631869	duplication	NM_001330360.2(POLA1):c.1771+16dup	not provided [RCV002132259]	benign\|likely benign	X	24732461	24732462	Human		name
152122576	CV1631993	single nucleotide variant	NM_001330360.2(POLA1):c.3297-17T>G	not provided [RCV002118036]	benign	X	24814962	24814962	Human		name
152089238	CV1639037	single nucleotide variant	NM_001330360.2(POLA1):c.2997+17T>G	not provided [RCV002150371]	likely benign	X	24809947	24809947	Human		name
152086093	CV1645308	single nucleotide variant	NM_001330360.2(POLA1):c.3297-15T>G	not provided [RCV002131446]	likely benign	X	24814964	24814964	Human		name
152058205	CV1651975	single nucleotide variant	NM_001330360.2(POLA1):c.2964+10G>A	POLA1-related disorder [RCV003958537]\|not provided [RCV002190220]	likely benign	X	24749002	24749002	Human	1	name , trait , alternate_id
152136068	CV1664323	single nucleotide variant	NM_001330360.2(POLA1):c.2841+14C>T	not provided [RCV002156157]	likely benign	X	24748474	24748474	Human		name
152034728	CV1669567	single nucleotide variant	NM_001330360.2(POLA1):c.1201-17C>T	not provided [RCV002223558]	uncertain significance	X	24724318	24724318	Human		name
152042755	CV1670041	single nucleotide variant	NM_001330360.2(POLA1):c.1200+11G>A	not provided [RCV002224943]	uncertain significance	X	24723278	24723278	Human		name
156335572	CV1954412	single nucleotide variant	NM_001330360.2(POLA1):c.4262-12C>G	not provided [RCV002580230]	likely benign	X	24995793	24995793	Human		name
156289417	CV1961387	duplication	NM_001330360.2(POLA1):c.3561+19dup	not provided [RCV002577768]	likely benign	X	24821601	24821602	Human		name
156284319	CV1968140	single nucleotide variant	NM_001330360.2(POLA1):c.2691+13C>T	not provided [RCV002598500]	likely benign	X	24745555	24745555	Human		name
156175582	CV1968594	single nucleotide variant	NM_001330360.2(POLA1):c.3916-14C>T	not provided [RCV002594907]	benign	X	24843532	24843532	Human		name
156092776	CV1984183	single nucleotide variant	NM_001330360.2(POLA1):c.1393-18T>C	not provided [RCV002621919]	likely benign	X	24726915	24726915	Human		name
155999292	CV1987077	single nucleotide variant	NM_001330360.2(POLA1):c.2567-18G>A	not provided [RCV002618371]	benign	X	24745400	24745400	Human		name
156008984	CV1989579	single nucleotide variant	NM_001330360.2(POLA1):c.2691+18G>A	not provided [RCV002636123]	likely benign	X	24745560	24745560	Human		name
156387272	CV1995885	single nucleotide variant	NM_001330360.2(POLA1):c.4262-16C>T	not provided [RCV002654078]	likely benign	X	24995789	24995789	Human		name
156139327	CV2006534	single nucleotide variant	NM_001330360.2(POLA1):c.3297-14T>C	not provided [RCV002663508]	likely benign	X	24814965	24814965	Human		name
156062824	CV2018234	single nucleotide variant	NM_001330360.2(POLA1):c.1087+15G>A	not provided [RCV002705441]	likely benign\|uncertain significance	X	24717773	24717773	Human		name
155941343	CV2022352	single nucleotide variant	NM_001330360.2(POLA1):c.3915+12C>T	not provided [RCV002730136]	likely benign	X	24841842	24841842	Human		name
156145981	CV2078684	single nucleotide variant	NM_001330360.2(POLA1):c.1392+20T>G	not provided [RCV002872153]	likely benign	X	24726075	24726075	Human		name
156100014	CV2087950	single nucleotide variant	NM_001330360.2(POLA1):c.2841+11T>C	not provided [RCV002848047]	likely benign	X	24748471	24748471	Human		name
156320997	CV2100999	single nucleotide variant	NM_001330360.2(POLA1):c.1392+16A>G	not provided [RCV002899289]	likely benign	X	24726071	24726071	Human		name
156319318	CV2165733	deletion	NM_001330360.2(POLA1):c.1834-10del	not provided [RCV003029054]	benign	X	24735385	24735385	Human		name
156071449	CV2168949	single nucleotide variant	NM_001330360.2(POLA1):c.1201-13T>C	not provided [RCV003037580]	likely benign	X	24724322	24724322	Human		name
404983610	CV2849326	single nucleotide variant	NM_001330360.2(POLA1):c.2841+74G>A	not specified [RCV003489198]	benign	X	24748534	24748534	Human		name
405209907	CV2910054	single nucleotide variant	NM_001330360.2(POLA1):c.2216+19C>T	not provided [RCV003566903]	likely benign	X	24739569	24739569	Human		name
405236308	CV2973406	single nucleotide variant	NM_001330360.2(POLA1):c.1771+16T>A	not provided [RCV003683140]	likely benign	X	24732470	24732470	Human		name
405020895	CV3001888	single nucleotide variant	NM_001330360.2(POLA1):c.4047+14A>C	not provided [RCV003694710]	likely benign	X	24843691	24843691	Human		name
402503838	CV3006951	single nucleotide variant	NM_001330360.2(POLA1):c.1317+13C>A	not provided [RCV003688642]	likely benign	X	24724464	24724464	Human		name
405129011	CV3054457	single nucleotide variant	NM_001330360.2(POLA1):c.1318-10A>G	not provided [RCV003724654]	likely benign	X	24725971	24725971	Human		name
405212225	CV3117924	single nucleotide variant	NM_001330360.2(POLA1):c.1686+14G>A	not provided [RCV003823523]	likely benign	X	24727950	24727950	Human		name
405191046	CV3118090	single nucleotide variant	NM_001330360.2(POLA1):c.3429+14T>A	not provided [RCV003821000]	benign	X	24815125	24815125	Human		name
404998576	CV3123973	single nucleotide variant	NM_001330360.2(POLA1):c.3737-18T>G	not provided [RCV003827880]	likely benign	X	24841634	24841634	Human		name
405140981	CV3125858	single nucleotide variant	NM_001330360.2(POLA1):c.3091-15T>C	not provided [RCV003816773]	likely benign	X	24812643	24812643	Human		name
405029636	CV3129918	single nucleotide variant	NM_001330360.2(POLA1):c.1834-19G>T	not provided [RCV003830516]	likely benign	X	24735380	24735380	Human		name
404994954	CV3132625	single nucleotide variant	NM_001330360.2(POLA1):c.3561+17C>T	not provided [RCV003827564]	likely benign	X	24821600	24821600	Human		name
405132109	CV3133518	single nucleotide variant	NM_001330360.2(POLA1):c.2216+13A>G	not provided [RCV003838488]	likely benign	X	24739563	24739563	Human		name
405203167	CV3165169	single nucleotide variant	NM_001330360.2(POLA1):c.2965-12T>C	not provided [RCV003861030]	likely benign	X	24809886	24809886	Human		name
405001696	CV3184065	single nucleotide variant	NM_001330360.2(POLA1):c.4048-10T>C	not provided [RCV003882648]	benign	X	24887996	24887996	Human		name
405256121	CV3208687	single nucleotide variant	NM_001330360.2(POLA1):c.3296+10G>A	POLA1-related disorder [RCV003939746]\|not provided [RCV005101810]	likely benign	X	24812873	24812873	Human	1	name , trait , alternate_id
597900707	CV3741109	single nucleotide variant	NM_001330360.2(POLA1):c.2965-13T>C	not provided [RCV005072272]	likely benign	X	24809885	24809885	Human		name
597866510	CV3742467	single nucleotide variant	NM_001330360.2(POLA1):c.2567-18G>T	not provided [RCV005068083]	likely benign	X	24745400	24745400	Human		name
597897550	CV3744631	single nucleotide variant	NM_001330360.2(POLA1):c.1317+19T>C	not provided [RCV005071910]	likely benign	X	24724470	24724470	Human		name
597839907	CV3756000	single nucleotide variant	NM_001330360.2(POLA1):c.4047+13A>G	not provided [RCV005086272]	likely benign	X	24843690	24843690	Human		name
597944961	CV3779516	single nucleotide variant	NM_001330360.2(POLA1):c.1771+20C>A	not provided [RCV005134480]	likely benign	X	24732474	24732474	Human		name
597943821	CV3782689	single nucleotide variant	NM_001330360.2(POLA1):c.1686+18G>C	not provided [RCV005134229]	likely benign	X	24727954	24727954	Human		name
597941537	CV3785816	single nucleotide variant	NM_001330360.2(POLA1):c.3737-10A>G	not provided [RCV005133709]	likely benign	X	24841642	24841642	Human		name
597909478	CV3806482	single nucleotide variant	NM_001330360.2(POLA1):c.1924-16T>C	not provided [RCV005154049]	likely benign	X	24737609	24737609	Human		name
597967132	CV3824181	single nucleotide variant	NM_001330360.2(POLA1):c.3297-18T>G	not provided [RCV005165404]	likely benign	X	24814961	24814961	Human		name
597976178	CV3829189	single nucleotide variant	NM_001330360.2(POLA1):c.3561+18G>A	not provided [RCV005169638]	likely benign	X	24821601	24821601	Human		name
597975096	CV3832219	single nucleotide variant	NM_001330360.2(POLA1):c.1393-11T>C	not provided [RCV005168955]	likely benign	X	24726922	24726922	Human		name
597893826	CV3833483	single nucleotide variant	NM_001330360.2(POLA1):c.3562-14A>G	not provided [RCV005180175]	likely benign	X	24826413	24826413	Human		name
597882350	CV3834055	single nucleotide variant	NM_001330360.2(POLA1):c.4048-12C>T	not provided [RCV005178374]	likely benign	X	24887994	24887994	Human		name
15194306	CV778517	deletion	NM_001330360.2(POLA1):c.1771+16del	not provided [RCV000955609]	benign	X	24732462	24732462	Human		name
8637831	CV93057	single nucleotide variant	NM_016937.3(POLA1):c.2947-21352G>A	Malignant melanoma [RCV000073155]	not provided	X	24788546	24788546	Human		name
8637832	CV93058	single nucleotide variant	NM_016937.3(POLA1):c.2947-20962A>G	Malignant melanoma [RCV000073156]	not provided	X	24788936	24788936	Human		name
8637833	CV93059	single nucleotide variant	NM_016937.3(POLA1):c.2947-20904C>T	Malignant melanoma [RCV000073157]	not provided	X	24788994	24788994	Human		name
8637834	CV93060	single nucleotide variant	NM_016937.3(POLA1):c.2947-20856C>T	Malignant melanoma [RCV000073158]	not provided	X	24789042	24789042	Human		name
152035098	CV1670089	single nucleotide variant	NM_001330360.2(POLA1):c.2691+581C>T	not provided [RCV002223623]	uncertain significance	X	24746123	24746123	Human		name
11060061	CV226861	single nucleotide variant	NM_001330360.2(POLA1):c.1393-354A>G	X-linked reticulate pigmentary disorder [RCV000210684]\|not provided [RCV001092577]	pathogenic	X	24726579	24726579	Human	1	name
401906980	CV2795758	single nucleotide variant	NM_001330360.2(POLA1):c.3296+110A>G	not specified [RCV003397110]	benign	X	24812973	24812973	Human		name
152174722	CV1567493	microsatellite	NM_001330360.2(POLA1):c.4262-21TC[6]	not provided [RCV002163252]	likely benign	X	24995784	24995785	Human		name
156201040	CV2010906	microsatellite	NM_001330360.2(POLA1):c.4262-21TC[5]	not provided [RCV002700280]	likely benign	X	24995784	24995787	Human		name
152145786	CV1642200	single nucleotide variant	NM_001330360.2(POLA1):c.21C>T (p.Asp7=)	not provided [RCV002101445]	likely benign	X	24693982	24693982	Human		name
156381021	CV1994660	single nucleotide variant	NM_001330360.2(POLA1):c.8C>T (p.Pro3Leu)	not provided [RCV002653660]	uncertain significance	X	24693969	24693969	Human		name
402513847	CV2991507	single nucleotide variant	NM_001330360.2(POLA1):c.39G>A (p.Ala13=)	not provided [RCV003689769]	likely benign	X	24694000	24694000	Human		name
405182812	CV3143890	deletion	NM_001330360.2(POLA1):c.347-17_347-14del	not provided [RCV003842616]	likely benign	X	24714536	24714539	Human		name
405053055	CV3151299	single nucleotide variant	NM_001330360.2(POLA1):c.96A>G (p.Lys32=)	not provided [RCV003849708]	likely benign	X	24699477	24699477	Human		name
405149620	CV3162801	deletion	NM_001330360.2(POLA1):c.526-14_526-10del	not provided [RCV003856244]	likely benign	X	24716345	24716349	Human		name
152120306	CV1574204	single nucleotide variant	NM_001330360.2(POLA1):c.132G>A (p.Leu44=)	not provided [RCV002175483]	likely benign	X	24699513	24699513	Human		name
152107434	CV1581901	single nucleotide variant	NM_001330360.2(POLA1):c.267T>C (p.Asp89=)	not provided [RCV002079796]	likely benign	X	24704390	24704390	Human		name
152141367	CV1583229	single nucleotide variant	NM_001330360.2(POLA1):c.210A>G (p.Glu70=)	not provided [RCV002120420]	likely benign	X	24703292	24703292	Human		name
156044495	CV2143627	single nucleotide variant	NM_001330360.2(POLA1):c.213G>A (p.Gln71=)	not provided [RCV002999657]	likely benign	X	24703295	24703295	Human		name
156097704	CV2163493	single nucleotide variant	NM_001330360.2(POLA1):c.216T>C (p.Tyr72=)	not provided [RCV003038457]	likely benign	X	24703298	24703298	Human		name
156138180	CV2186655	single nucleotide variant	NM_001330360.2(POLA1):c.17G>A (p.Gly6Asp)	not provided [RCV003056080]	uncertain significance	X	24693978	24693978	Human		name
402475521	CV2863841	single nucleotide variant	NM_001330360.2(POLA1):c.13C>T (p.His5Tyr)	not provided [RCV003543305]	uncertain significance	X	24693974	24693974	Human		name
402520555	CV2871066	single nucleotide variant	NM_001330360.2(POLA1):c.114A>G (p.Gln38=)	not provided [RCV003547662]	likely benign	X	24699495	24699495	Human		name
405193206	CV2985721	deletion	NM_001330360.2(POLA1):c.3736+6_3736+14del	not provided [RCV003706658]	uncertain significance	X	24826604	24826612	Human		name
405201642	CV3066887	single nucleotide variant	NM_001330360.2(POLA1):c.16G>A (p.Gly6Ser)	not provided [RCV003730785]	uncertain significance	X	24693977	24693977	Human		name
405186507	CV3156401	single nucleotide variant	NM_001330360.2(POLA1):c.171C>G (p.Val57=)	not provided [RCV003859279]	likely benign	X	24703253	24703253	Human		name
151787456	CV1390466	single nucleotide variant	NM_001330360.2(POLA1):c.83G>A (p.Arg28Gln)	Inborn genetic diseases [RCV004043993]\|not provided [RCV001931063]	likely benign\|uncertain significance	X	24699464	24699464	Human	1	name
151736346	CV1463549	single nucleotide variant	NM_001330360.2(POLA1):c.708C>T (p.Gly236=)	not provided [RCV001911447]	benign\|uncertain significance	X	24717291	24717291	Human		name
152119042	CV1558345	deletion	NM_001330360.2(POLA1):c.3297-22_3297-11del	not provided [RCV002135469]	likely benign	X	24814953	24814964	Human		name
152135138	CV1560292	single nucleotide variant	NM_001330360.2(POLA1):c.945T>C (p.Ile315=)	not provided [RCV002137436]	likely benign	X	24717616	24717616	Human		name
152047468	CV1569403	single nucleotide variant	NM_001330360.2(POLA1):c.528A>G (p.Thr176=)	not provided [RCV002126816]	likely benign	X	24716364	24716364	Human		name
152151290	CV1578085	single nucleotide variant	NM_001330360.2(POLA1):c.477G>A (p.Leu159=)	not provided [RCV002158233]	likely benign	X	24715155	24715155	Human		name
152085601	CV1599239	single nucleotide variant	NM_001330360.2(POLA1):c.318A>G (p.Glu106=)	not provided [RCV002093436]	benign	X	24704441	24704441	Human		name
152167284	CV1600560	single nucleotide variant	NM_001330360.2(POLA1):c.924G>A (p.Pro308=)	not provided [RCV002160831]	likely benign	X	24717595	24717595	Human		name
152118921	CV1602683	single nucleotide variant	NM_001330360.2(POLA1):c.534A>G (p.Gln178=)	not provided [RCV002117584]	likely benign	X	24716370	24716370	Human		name
152132702	CV1604833	deletion	NM_001330360.2(POLA1):c.3430-16_3430-15del	not provided [RCV002099702]	benign	X	24821432	24821433	Human		name
152036689	CV1605380	deletion	NM_001330360.2(POLA1):c.2346+16_2346+19del	not provided [RCV002087327]	likely benign	X	24741518	24741521	Human		name
152162441	CV1606316	single nucleotide variant	NM_001330360.2(POLA1):c.981A>G (p.Glu327=)	not provided [RCV002181160]	likely benign	X	24717652	24717652	Human		name
152130805	CV1631020	single nucleotide variant	NM_001330360.2(POLA1):c.678T>C (p.Pro226=)	not provided [RCV002119062]	likely benign	X	24716943	24716943	Human		name
152135473	CV1642313	single nucleotide variant	NM_001330360.2(POLA1):c.396C>T (p.Leu132=)	not provided [RCV002119644]	likely benign	X	24714603	24714603	Human		name
156408931	CV1954577	single nucleotide variant	NM_001330360.2(POLA1):c.411G>A (p.Pro137=)	not provided [RCV002586657]	likely benign	X	24714618	24714618	Human		name
156241383	CV1992570	single nucleotide variant	NM_001330360.2(POLA1):c.321T>C (p.Asp107=)	not provided [RCV002627144]	likely benign	X	24704444	24704444	Human		name
156352857	CV1994616	single nucleotide variant	NM_001330360.2(POLA1):c.753G>T (p.Gly251=)	not provided [RCV002675716]	likely benign	X	24717336	24717336	Human		name
156099070	CV2007620	single nucleotide variant	NM_001330360.2(POLA1):c.933T>C (p.Ser311=)	not provided [RCV002695235]	likely benign	X	24717604	24717604	Human		name
156002920	CV2014843	single nucleotide variant	NM_001330360.2(POLA1):c.77G>A (p.Arg26Gln)	not provided [RCV002690140]	uncertain significance	X	24699458	24699458	Human		name
155935148	CV2035368	single nucleotide variant	NM_001330360.2(POLA1):c.897C>T (p.Thr299=)	not provided [RCV002751399]	benign	X	24717480	24717480	Human		name
156017328	CV2046967	single nucleotide variant	NM_001330360.2(POLA1):c.811C>T (p.Leu271=)	not provided [RCV002757003]	likely benign	X	24717394	24717394	Human		name
155941455	CV2055007	single nucleotide variant	NM_001330360.2(POLA1):c.92A>G (p.Lys31Arg)	not provided [RCV002815723]	uncertain significance	X	24699473	24699473	Human		name
156307538	CV2067025	single nucleotide variant	NM_001330360.2(POLA1):c.312C>T (p.Asp104=)	not provided [RCV002833933]	likely benign	X	24704435	24704435	Human		name
155954889	CV2069765	single nucleotide variant	NM_001330360.2(POLA1):c.549T>C (p.Pro183=)	not provided [RCV002816464]	likely benign	X	24716385	24716385	Human		name
156329589	CV2116373	single nucleotide variant	NM_001330360.2(POLA1):c.612C>T (p.Thr204=)	not provided [RCV002938290]	likely benign	X	24716448	24716448	Human		name
156308699	CV2150027	single nucleotide variant	NM_001330360.2(POLA1):c.399A>G (p.Ala133=)	not provided [RCV003028454]	likely benign	X	24714606	24714606	Human		name
156241351	CV2188905	single nucleotide variant	NM_001330360.2(POLA1):c.864A>G (p.Glu288=)	not provided [RCV003059668]	uncertain significance	X	24717447	24717447	Human		name
329350760	CV2421801	single nucleotide variant	NM_001330360.2(POLA1):c.47T>C (p.Leu16Pro)	not provided [RCV003159505]	uncertain significance	X	24699428	24699428	Human		name
329954962	CV2670894	single nucleotide variant	NM_001330360.2(POLA1):c.82C>T (p.Arg28Trp)	not provided [RCV003236162]	uncertain significance	X	24699463	24699463	Human		name
401937688	CV2796810	single nucleotide variant	NM_001330360.2(POLA1):c.55T>C (p.Ser19Pro)	POLA1-related disorder [RCV003416780]	uncertain significance	X	24699436	24699436	Human		name , trait , alternate_id
405046824	CV2856236	single nucleotide variant	NM_001330360.2(POLA1):c.456T>G (p.Thr152=)	not provided [RCV003579510]	likely benign	X	24714663	24714663	Human		name
405128037	CV2893207	single nucleotide variant	NM_001330360.2(POLA1):c.747G>A (p.Glu249=)	not provided [RCV003559766]	likely benign	X	24717330	24717330	Human		name
405213612	CV2924952	single nucleotide variant	NM_001330360.2(POLA1):c.567G>A (p.Lys189=)	not provided [RCV003567502]	likely benign	X	24716403	24716403	Human		name
405162754	CV2951490	single nucleotide variant	NM_001330360.2(POLA1):c.68T>C (p.Val23Ala)	not provided [RCV003670846]	uncertain significance	X	24699449	24699449	Human		name
405205655	CV2997802	single nucleotide variant	NM_001330360.2(POLA1):c.486T>C (p.Asp162=)	not provided [RCV003678700]	likely benign	X	24715164	24715164	Human		name
402483977	CV3036751	single nucleotide variant	NM_001330360.2(POLA1):c.603T>C (p.Ser201=)	not provided [RCV003713123]	likely benign	X	24716439	24716439	Human		name
405221911	CV3038657	single nucleotide variant	NM_001330360.2(POLA1):c.327C>T (p.Ala109=)	not provided [RCV003710099]	likely benign	X	24704450	24704450	Human		name
405268394	CV3187029	single nucleotide variant	NM_001330360.2(POLA1):c.651C>T (p.Val217=)	not provided [RCV003887112]	likely benign	X	24716916	24716916	Human		name
597914363	CV3740625	single nucleotide variant	NM_001330360.2(POLA1):c.83G>C (p.Arg28Pro)	not provided [RCV005073962]	uncertain significance	X	24699464	24699464	Human		name
597904728	CV3742003	single nucleotide variant	NM_001330360.2(POLA1):c.546A>G (p.Pro182=)	not provided [RCV005072787]	likely benign	X	24716382	24716382	Human		name
597841894	CV3752911	single nucleotide variant	NM_001330360.2(POLA1):c.591G>A (p.Pro197=)	not provided [RCV005086640]	likely benign	X	24716427	24716427	Human		name
597961554	CV3753273	single nucleotide variant	NM_001330360.2(POLA1):c.600C>T (p.Phe200=)	not provided [RCV005081773]	likely benign	X	24716436	24716436	Human		name
597873133	CV3765959	single nucleotide variant	NM_001330360.2(POLA1):c.46C>G (p.Leu16Val)	not provided [RCV005108090]	uncertain significance	X	24699427	24699427	Human		name
597868337	CV3787344	single nucleotide variant	NM_001330360.2(POLA1):c.618G>A (p.Thr206=)	not provided [RCV005122229]	uncertain significance	X	24716454	24716454	Human		name
597949844	CV3818850	single nucleotide variant	NM_001330360.2(POLA1):c.813G>A (p.Leu271=)	not provided [RCV005160920]	likely benign	X	24717396	24717396	Human		name
597972843	CV3819950	single nucleotide variant	NM_001330360.2(POLA1):c.705T>C (p.Ala235=)	not provided [RCV005167664]	benign	X	24716970	24716970	Human		name
597858583	CV3850219	single nucleotide variant	NM_001330360.2(POLA1):c.405A>G (p.Thr135=)	not provided [RCV005195552]	likely benign	X	24714612	24714612	Human		name
127310522	CV1150653	single nucleotide variant	NM_001330360.2(POLA1):c.1503A>G (p.Gly501=)	not provided [RCV001501366]	likely benign	X	24727043	24727043	Human		name
151793835	CV1340996	single nucleotide variant	NM_001330360.2(POLA1):c.240G>C (p.Gln80His)	not provided [RCV001931672]	uncertain significance	X	24703322	24703322	Human		name
151787324	CV1416681	single nucleotide variant	NM_001330360.2(POLA1):c.266A>G (p.Asp89Gly)	Inborn genetic diseases [RCV004955989]\|not provided [RCV001989717]	uncertain significance	X	24704389	24704389	Human	1	name
151833124	CV1439302	single nucleotide variant	NM_001330360.2(POLA1):c.269G>A (p.Gly90Asp)	not provided [RCV001976844]	uncertain significance	X	24704392	24704392	Human		name
151717870	CV1469200	single nucleotide variant	NM_001330360.2(POLA1):c.290G>T (p.Gly97Val)	not provided [RCV002039606]	uncertain significance	X	24704413	24704413	Human		name
151828747	CV1480014	single nucleotide variant	NM_001330360.2(POLA1):c.145G>A (p.Ala49Thr)	not provided [RCV001901591]	uncertain significance	X	24699526	24699526	Human		name
151828903	CV1480056	single nucleotide variant	NM_001330360.2(POLA1):c.110G>A (p.Arg37His)	Inborn genetic diseases [RCV004042620]\|not provided [RCV001901606]	uncertain significance	X	24699491	24699491	Human	1	name
152069325	CV1535371	single nucleotide variant	NM_001330360.2(POLA1):c.1971T>C (p.Ile657=)	not provided [RCV002091369]	likely benign	X	24737672	24737672	Human		name
152064087	CV1554573	single nucleotide variant	NM_001330360.2(POLA1):c.2142G>C (p.Leu714=)	not provided [RCV002190902]	likely benign	X	24739476	24739476	Human		name
152096835	CV1566102	single nucleotide variant	NM_001330360.2(POLA1):c.109C>A (p.Arg37Ser)	Inborn genetic diseases [RCV004045762]\|not provided [RCV002094957]	likely benign	X	24699490	24699490	Human	1	name
152127975	CV1573844	single nucleotide variant	NM_001330360.2(POLA1):c.2304T>G (p.Leu768=)	not provided [RCV002155130]	likely benign	X	24741462	24741462	Human		name
152154701	CV1579521	single nucleotide variant	NM_001330360.2(POLA1):c.185G>A (p.Gly62Asp)	not provided [RCV002158696]	likely benign	X	24703267	24703267	Human		name
152056896	CV1588351	single nucleotide variant	NM_001330360.2(POLA1):c.1128C>T (p.Ala376=)	not provided [RCV002190074]	likely benign	X	24723195	24723195	Human		name
152170502	CV1592458	single nucleotide variant	NM_001330360.2(POLA1):c.2115A>G (p.Glu705=)	not provided [RCV002161795]	likely benign	X	24739449	24739449	Human		name
152039687	CV1592811	single nucleotide variant	NM_001330360.2(POLA1):c.1035A>G (p.Gln345=)	not provided [RCV002188068]	likely benign	X	24717706	24717706	Human		name
152091761	CV1595963	single nucleotide variant	NM_001330360.2(POLA1):c.2124T>C (p.Arg708=)	not provided [RCV002077808]	likely benign	X	24739458	24739458	Human		name
152092872	CV1598566	single nucleotide variant	NM_001330360.2(POLA1):c.2610A>G (p.Leu870=)	not provided [RCV002172063]	likely benign	X	24745461	24745461	Human		name
152091667	CV1602904	single nucleotide variant	NM_001330360.2(POLA1):c.1182C>T (p.Tyr394=)	not provided [RCV002194381]	likely benign	X	24723249	24723249	Human		name
152163736	CV1604905	single nucleotide variant	NM_001330360.2(POLA1):c.2010A>G (p.Arg670=)	not provided [RCV002203889]	likely benign	X	24737711	24737711	Human		name
152151060	CV1605592	single nucleotide variant	NM_001330360.2(POLA1):c.1626G>A (p.Pro542=)	not provided [RCV002102235]	likely benign	X	24727876	24727876	Human		name
152164183	CV1619704	single nucleotide variant	NM_001330360.2(POLA1):c.1428A>G (p.Gly476=)	not provided [RCV002181483]	likely benign	X	24726968	24726968	Human		name
152168857	CV1626394	single nucleotide variant	NM_001330360.2(POLA1):c.2382C>T (p.Asn794=)	not provided [RCV002182593]	likely benign	X	24742037	24742037	Human		name
152059861	CV1627861	single nucleotide variant	NM_001330360.2(POLA1):c.2979G>A (p.Thr993=)	not provided [RCV002190394]	likely benign	X	24809912	24809912	Human		name
152146022	CV1631375	single nucleotide variant	NM_001330360.2(POLA1):c.2937T>G (p.Ala979=)	not provided [RCV002157443]	likely benign	X	24748965	24748965	Human		name
152079826	CV1632519	insertion	NM_001330360.2(POLA1):c.3297-18_3297-17insG	not provided [RCV002130687]	likely benign	X	24814961	24814962	Human		name
152072433	CV1633958	single nucleotide variant	NM_001330360.2(POLA1):c.1009T>C (p.Leu337=)	not provided [RCV002191960]	likely benign	X	24717680	24717680	Human		name
152034563	CV1634951	single nucleotide variant	NM_001330360.2(POLA1):c.2331C>T (p.Ile777=)	not provided [RCV002086992]	likely benign	X	24741489	24741489	Human		name
152146691	CV1635529	single nucleotide variant	NM_001330360.2(POLA1):c.2667T>A (p.Ala889=)	not provided [RCV002201343]	likely benign	X	24745518	24745518	Human		name
152029001	CV1639865	single nucleotide variant	NM_001330360.2(POLA1):c.1230A>G (p.Thr410=)	not provided [RCV002085654]	likely benign	X	24724364	24724364	Human		name
152126383	CV1641924	single nucleotide variant	NM_001330360.2(POLA1):c.1362A>G (p.Glu454=)	not provided [RCV002176229]	likely benign	X	24726025	24726025	Human		name
152085514	CV1645224	single nucleotide variant	NM_001330360.2(POLA1):c.1245A>G (p.Ser415=)	not provided [RCV002131377]	likely benign	X	24724379	24724379	Human		name
152103848	CV1667530	single nucleotide variant	NM_001330360.2(POLA1):c.1680A>G (p.Gln560=)	not provided [RCV002214518]	likely benign	X	24727930	24727930	Human		name
155641562	CV1707037	single nucleotide variant	NM_001330360.2(POLA1):c.101A>G (p.Lys34Arg)	not provided [RCV002287967]	uncertain significance	X	24699482	24699482	Human		name
156031352	CV1899661	single nucleotide variant	NM_001330360.2(POLA1):c.109C>T (p.Arg37Cys)	not provided [RCV003100664]	uncertain significance	X	24699490	24699490	Human		name
156416471	CV1905223	single nucleotide variant	NM_001330360.2(POLA1):c.1368T>G (p.Ser456=)	not provided [RCV002610193]	likely benign	X	24726031	24726031	Human		name
155956830	CV1915509	single nucleotide variant	NM_001330360.2(POLA1):c.2874A>G (p.Thr958=)	POLA1-related disorder [RCV003918930]\|not provided [RCV002616521]	benign\|likely benign	X	24748902	24748902	Human	1	name , trait , alternate_id
156190397	CV1915835	single nucleotide variant	NM_001330360.2(POLA1):c.2877G>A (p.Ala959=)	not provided [RCV002595352]	likely benign	X	24748905	24748905	Human		name
156362415	CV1931796	single nucleotide variant	NM_001330360.2(POLA1):c.1107G>A (p.Gly369=)	not provided [RCV002632769]	likely benign	X	24723174	24723174	Human		name
156414915	CV1983078	single nucleotide variant	NM_001330360.2(POLA1):c.1299T>C (p.Ile433=)	not provided [RCV002609424]	likely benign	X	24724433	24724433	Human		name
156199067	CV2006009	single nucleotide variant	NM_001330360.2(POLA1):c.2178G>A (p.Arg726=)	not provided [RCV002643568]	likely benign	X	24739512	24739512	Human		name
156096958	CV2012903	insertion	NM_001330360.2(POLA1):c.3297-16_3297-15insG	not provided [RCV002706522]	benign	X	24814963	24814964	Human		name
156306075	CV2013739	single nucleotide variant	NM_001330360.2(POLA1):c.1170G>A (p.Glu390=)	not provided [RCV002716284]	likely benign	X	24723237	24723237	Human		name
156157793	CV2033657	single nucleotide variant	NM_001330360.2(POLA1):c.1632C>T (p.Val544=)	not provided [RCV002741436]	likely benign	X	24727882	24727882	Human		name
156201328	CV2034742	single nucleotide variant	NM_001330360.2(POLA1):c.1809T>C (p.Ala603=)	not provided [RCV002766249]	likely benign	X	24733792	24733792	Human		name
156048846	CV2068253	single nucleotide variant	NM_001330360.2(POLA1):c.1176G>A (p.Thr392=)	not provided [RCV002846363]	likely benign	X	24723243	24723243	Human		name
156003568	CV2074773	single nucleotide variant	NM_001330360.2(POLA1):c.2835T>C (p.Ile945=)	not provided [RCV002843522]	likely benign	X	24748454	24748454	Human		name
156099203	CV2107135	single nucleotide variant	NM_001330360.2(POLA1):c.1803A>G (p.Pro601=)	not provided [RCV002926983]	likely benign	X	24733786	24733786	Human		name
156351877	CV2118653	single nucleotide variant	NM_001330360.2(POLA1):c.1002C>T (p.His334=)	not provided [RCV002966359]	likely benign	X	24717673	24717673	Human		name
155975953	CV2149093	single nucleotide variant	NM_001330360.2(POLA1):c.2307A>G (p.Pro769=)	not provided [RCV003016155]	likely benign	X	24741465	24741465	Human		name
156319114	CV2165717	single nucleotide variant	NM_001330360.2(POLA1):c.1653G>A (p.Lys551=)	not provided [RCV003029043]	likely benign	X	24727903	24727903	Human		name
156304447	CV2166818	single nucleotide variant	NM_001330360.2(POLA1):c.2694T>C (p.Asp898=)	not provided [RCV003045710]	likely benign	X	24748313	24748313	Human		name
401918849	CV2821386	single nucleotide variant	NM_001330360.2(POLA1):c.1137T>C (p.His379=)	not provided [RCV003430477]	likely benign	X	24723204	24723204	Human		name
401918851	CV2821387	single nucleotide variant	NM_001330360.2(POLA1):c.2289T>C (p.Cys763=)	not provided [RCV003430478]	likely benign	X	24741447	24741447	Human		name
405114079	CV2948826	single nucleotide variant	NM_001330360.2(POLA1):c.218C>T (p.Ser73Leu)	not provided [RCV003666699]	benign	X	24703300	24703300	Human		name
405147880	CV2962860	single nucleotide variant	NM_001330360.2(POLA1):c.1506T>C (p.Pro502=)	not provided [RCV003673784]	likely benign	X	24727046	24727046	Human		name
405217817	CV2968572	single nucleotide variant	NM_001330360.2(POLA1):c.1716C>T (p.His572=)	not provided [RCV003680256]	likely benign	X	24732399	24732399	Human		name
405245334	CV2969099	single nucleotide variant	NM_001330360.2(POLA1):c.1539G>A (p.Leu513=)	not provided [RCV003685128]	likely benign	X	24727789	24727789	Human		name
405241479	CV2970768	single nucleotide variant	NM_001330360.2(POLA1):c.1359A>G (p.Pro453=)	not provided [RCV003684131]	likely benign	X	24726022	24726022	Human		name
405224326	CV2979245	single nucleotide variant	NM_001330360.2(POLA1):c.1917C>T (p.Ile639=)	not provided [RCV003681166]	likely benign	X	24735482	24735482	Human		name
402518354	CV3002238	single nucleotide variant	NM_001330360.2(POLA1):c.1143C>T (p.Ser381=)	not provided [RCV003690100]	uncertain significance	X	24723210	24723210	Human		name
405181045	CV3027803	single nucleotide variant	NM_001330360.2(POLA1):c.286G>A (p.Asp96Asn)	not provided [RCV003705477]	uncertain significance	X	24704409	24704409	Human		name
405174204	CV3052579	single nucleotide variant	NM_001330360.2(POLA1):c.1497C>A (p.Ile499=)	not provided [RCV003728195]	likely benign	X	24727037	24727037	Human		name
405244084	CV3053937	single nucleotide variant	NM_001330360.2(POLA1):c.2142G>T (p.Leu714=)	not provided [RCV003719830]	likely benign	X	24739476	24739476	Human		name
405165606	CV3059398	single nucleotide variant	NM_001330360.2(POLA1):c.2400T>C (p.His800=)	not provided [RCV003727298]	likely benign	X	24742055	24742055	Human		name
405014754	CV3138939	single nucleotide variant	NM_001330360.2(POLA1):c.1812C>T (p.Phe604=)	not provided [RCV003829276]	benign	X	24733795	24733795	Human		name
405206231	CV3144236	single nucleotide variant	NM_001330360.2(POLA1):c.1173A>G (p.Arg391=)	not provided [RCV003845026]	likely benign	X	24723240	24723240	Human		name
405231891	CV3144591	single nucleotide variant	NM_001330360.2(POLA1):c.1746G>A (p.Lys582=)	not provided [RCV003853044]	likely benign	X	24732429	24732429	Human		name
405067216	CV3148944	single nucleotide variant	NM_001330360.2(POLA1):c.1737A>G (p.Ala579=)	not provided [RCV003850706]	likely benign	X	24732420	24732420	Human		name
405053549	CV3151336	single nucleotide variant	NM_001330360.2(POLA1):c.1726T>C (p.Leu576=)	not provided [RCV003849745]	benign	X	24732409	24732409	Human		name
405217903	CV3161033	single nucleotide variant	NM_001330360.2(POLA1):c.2928A>G (p.Lys976=)	not provided [RCV003863095]	likely benign	X	24748956	24748956	Human		name
405201364	CV3164963	single nucleotide variant	NM_001330360.2(POLA1):c.2574T>C (p.Tyr858=)	not provided [RCV003860824]	benign	X	24745425	24745425	Human		name
405253416	CV3174444	single nucleotide variant	NM_001330360.2(POLA1):c.2100A>G (p.Glu700=)	not provided [RCV003871073]	likely benign	X	24739434	24739434	Human		name
597913682	CV3740515	single nucleotide variant	NM_001330360.2(POLA1):c.1077C>T (p.Tyr359=)	not provided [RCV005073852]	likely benign	X	24717748	24717748	Human		name
597917384	CV3741156	single nucleotide variant	NM_001330360.2(POLA1):c.1635G>A (p.Val545=)	not provided [RCV005074303]	benign	X	24727885	24727885	Human		name
597839262	CV3758358	single nucleotide variant	NM_001330360.2(POLA1):c.1480T>C (p.Leu494=)	not provided [RCV005086193]	benign	X	24727020	24727020	Human		name
597919285	CV3764961	single nucleotide variant	NM_001330360.2(POLA1):c.2508C>T (p.Tyr836=)	not provided [RCV005114976]	likely benign	X	24743271	24743271	Human		name
597883356	CV3799484	single nucleotide variant	NM_001330360.2(POLA1):c.2658A>G (p.Gln886=)	not provided [RCV005150151]	likely benign	X	24745509	24745509	Human		name
597917570	CV3811187	single nucleotide variant	NM_001330360.2(POLA1):c.2598C>T (p.Asp866=)	not provided [RCV005155222]	likely benign	X	24745449	24745449	Human		name
597918338	CV3811275	single nucleotide variant	NM_001330360.2(POLA1):c.2310A>G (p.Leu770=)	not provided [RCV005155310]	likely benign	X	24741468	24741468	Human		name
597947540	CV3817791	single nucleotide variant	NM_001330360.2(POLA1):c.2292G>A (p.Glu764=)	not provided [RCV005160258]	likely benign	X	24741450	24741450	Human		name
597947405	CV3817896	single nucleotide variant	NM_001330360.2(POLA1):c.2016G>A (p.Lys672=)	not provided [RCV005160363]	likely benign	X	24737717	24737717	Human		name
597832527	CV3831274	single nucleotide variant	NM_001330360.2(POLA1):c.1023A>G (p.Ala341=)	not provided [RCV005170477]	likely benign	X	24717694	24717694	Human		name
597963253	CV3841445	single nucleotide variant	NM_001330360.2(POLA1):c.2373C>T (p.Ser791=)	not provided [RCV005193549]	likely benign	X	24742028	24742028	Human		name
597908151	CV3853671	single nucleotide variant	NM_001330360.2(POLA1):c.1206T>A (p.Ile402=)	not provided [RCV005203153]	likely benign	X	24724340	24724340	Human		name
597966167	CV3859058	single nucleotide variant	NM_001330360.2(POLA1):c.2409C>T (p.Tyr803=)	not provided [RCV005194453]	benign	X	24742064	24742064	Human		name
598124845	CV3883704	single nucleotide variant	NM_001330360.2(POLA1):c.242A>C (p.Asp81Ala)	not provided [RCV005236058]	uncertain significance	X	24703324	24703324	Human		name
616939225	CV4015555	single nucleotide variant	NM_001330360.2(POLA1):c.249C>G (p.Asp83Glu)	not provided [RCV005413067]	uncertain significance	X	24703331	24703331	Human		name
14689862	CV615987	single nucleotide variant	NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser)	X-linked intellectual disability, van Esch type [RCV000791329]	pathogenic	X	24703336	24703336	Human	1	name
15181213	CV717766	single nucleotide variant	NM_001330360.2(POLA1):c.1167C>T (p.Ile389=)	not provided [RCV000974337]	benign	X	24723234	24723234	Human		name
126758371	CV1014871	single nucleotide variant	NM_001330360.2(POLA1):c.455C>T (p.Thr152Ile)	Inborn genetic diseases [RCV003166833]\|not provided [RCV001317760]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	24714662	24714662	Human	1	name
127238800	CV1086519	single nucleotide variant	NM_001330360.2(POLA1):c.460G>T (p.Asp154Tyr)	not provided [RCV001392538]	likely benign	X	24714667	24714667	Human		name
127244740	CV1108243	single nucleotide variant	NM_001330360.2(POLA1):c.3903C>T (p.Val1301=)	not provided [RCV001424150]	likely benign	X	24841818	24841818	Human		name
127293427	CV1159545	single nucleotide variant	NM_001330360.2(POLA1):c.820A>G (p.Met274Val)	not provided [RCV001511342]	benign	X	24717403	24717403	Human		name
127299722	CV1159551	single nucleotide variant	NM_001330360.2(POLA1):c.3087C>T (p.Asn1029=)	POLA1-related disorder [RCV003931075]\|not provided [RCV001513816]	benign\|likely benign	X	24810797	24810797	Human	1	name , trait , alternate_id
127293179	CV1159552	single nucleotide variant	NM_001330360.2(POLA1):c.3183C>T (p.Tyr1061=)	not provided [RCV001511223]	benign\|likely benign	X	24812750	24812750	Human		name
127291346	CV1159554	single nucleotide variant	NM_001330360.2(POLA1):c.3516C>G (p.Gly1172=)	POLA1-related disorder [RCV003956127]\|not provided [RCV001510302]	benign\|likely benign	X	24821538	24821538	Human	1	name , trait , alternate_id
127310231	CV1159555	single nucleotide variant	NM_001330360.2(POLA1):c.3717C>A (p.Val1239=)	not provided [RCV001518198]	benign	X	24826582	24826582	Human		name
127292222	CV1159557	single nucleotide variant	NM_001330360.2(POLA1):c.4395C>T (p.Ala1465=)	not provided [RCV001510780]	benign	X	24995938	24995938	Human		name
150489957	CV1274793	single nucleotide variant	NM_001330360.2(POLA1):c.4185C>T (p.Tyr1395=)	not provided [RCV001700602]	benign\|likely benign	X	24930473	24930473	Human		name
151350214	CV1324765	single nucleotide variant	NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro)	X-linked intellectual disability, van Esch type [RCV001809210]	uncertain significance	X	24715156	24715156	Human	1	name
151782736	CV1342043	single nucleotide variant	NM_001330360.2(POLA1):c.823G>A (p.Ala275Thr)	not provided [RCV001897395]	uncertain significance	X	24717406	24717406	Human		name
151749640	CV1357199	single nucleotide variant	NM_001330360.2(POLA1):c.520A>G (p.Thr174Ala)	Inborn genetic diseases [RCV004651748]\|not provided [RCV001872123]\|not specified [RCV005409041]	benign\|likely benign\|uncertain significance	X	24715198	24715198	Human	1	name
151832516	CV1378034	single nucleotide variant	NM_001330360.2(POLA1):c.574T>C (p.Ser192Pro)	not provided [RCV002014442]	uncertain significance	X	24716410	24716410	Human		name
151838268	CV1382727	single nucleotide variant	NM_001330360.2(POLA1):c.454A>G (p.Thr152Ala)	not provided [RCV002031519]	uncertain significance	X	24714661	24714661	Human		name
151818275	CV1397427	single nucleotide variant	NM_001330360.2(POLA1):c.367A>G (p.Asn123Asp)	not provided [RCV001992514]	uncertain significance	X	24714574	24714574	Human		name
151802557	CV1405000	single nucleotide variant	NM_001330360.2(POLA1):c.770A>G (p.Asp257Gly)	not provided [RCV001932445]	uncertain significance	X	24717353	24717353	Human		name
151880623	CV1405931	single nucleotide variant	NM_001330360.2(POLA1):c.361G>A (p.Ala121Thr)	not provided [RCV001940972]	benign\|uncertain significance	X	24714568	24714568	Human		name
151893075	CV1411919	single nucleotide variant	NM_001330360.2(POLA1):c.946G>A (p.Asp316Asn)	not provided [RCV001944740]	uncertain significance	X	24717617	24717617	Human		name
151772621	CV1417013	single nucleotide variant	NM_001330360.2(POLA1):c.529C>T (p.Pro177Ser)	not provided [RCV001971332]	benign\|uncertain significance	X	24716365	24716365	Human		name
151721488	CV1419546	single nucleotide variant	NM_001330360.2(POLA1):c.781G>A (p.Asp261Asn)	not provided [RCV001983148]	uncertain significance	X	24717364	24717364	Human		name
151820135	CV1422503	single nucleotide variant	NM_001330360.2(POLA1):c.364C>T (p.Arg122Cys)	Inborn genetic diseases [RCV004041506]\|not provided [RCV001900801]	likely benign\|uncertain significance	X	24714571	24714571	Human	1	name
151885845	CV1428446	single nucleotide variant	NM_001330360.2(POLA1):c.4125T>G (p.Pro1375=)	not provided [RCV002037846]	likely benign	X	24888083	24888083	Human		name
151863826	CV1431458	single nucleotide variant	NM_001330360.2(POLA1):c.563A>G (p.Lys188Arg)	not provided [RCV001924357]	uncertain significance	X	24716399	24716399	Human		name
151838229	CV1445347	single nucleotide variant	NM_001330360.2(POLA1):c.488G>T (p.Gly163Val)	not provided [RCV001994424]	uncertain significance	X	24715166	24715166	Human		name
151743192	CV1466763	single nucleotide variant	NM_001330360.2(POLA1):c.617C>T (p.Thr206Met)	Inborn genetic diseases [RCV004041063]\|not provided [RCV001871223]	likely benign\|uncertain significance	X	24716453	24716453	Human	1	name
151716706	CV1470706	single nucleotide variant	NM_001330360.2(POLA1):c.870A>T (p.Lys290Asn)	not provided [RCV001909077]	uncertain significance	X	24717453	24717453	Human		name
151817031	CV1482749	single nucleotide variant	NM_001330360.2(POLA1):c.721G>T (p.Val241Phe)	Inborn genetic diseases [RCV005397048]\|not provided [RCV002049416]	uncertain significance	X	24717304	24717304	Human	1	name
151838340	CV1501371	single nucleotide variant	NM_001330360.2(POLA1):c.404C>T (p.Thr135Ile)	not provided [RCV001977393]	uncertain significance	X	24714611	24714611	Human		name
151742627	CV1514805	single nucleotide variant	NM_001330360.2(POLA1):c.652T>C (p.Ser218Pro)	not provided [RCV002022470]	uncertain significance	X	24716917	24716917	Human		name
152130439	CV1523394	single nucleotide variant	NM_001330360.2(POLA1):c.4221G>A (p.Ala1407=)	not provided [RCV002136853]	benign	X	24930509	24930509	Human		name
152100052	CV1539947	single nucleotide variant	NM_001330360.2(POLA1):c.3546A>C (p.Ser1182=)	not provided [RCV002095399]	likely benign	X	24821568	24821568	Human		name
152118964	CV1558321	single nucleotide variant	NM_001330360.2(POLA1):c.4248C>T (p.Thr1416=)	not provided [RCV002135459]	likely benign	X	24930536	24930536	Human		name
152069586	CV1569964	single nucleotide variant	NM_001330360.2(POLA1):c.3393T>C (p.Asn1131=)	POLA1-related disorder [RCV003903601]\|not provided [RCV002191603]	likely benign	X	24815075	24815075	Human	1	name , trait , alternate_id
152045748	CV1591124	single nucleotide variant	NM_001330360.2(POLA1):c.3600G>A (p.Ala1200=)	not provided [RCV002188813]	likely benign	X	24826465	24826465	Human		name
152119604	CV1593672	single nucleotide variant	NM_001330360.2(POLA1):c.4359C>T (p.Ser1453=)	not provided [RCV002097966]	likely benign	X	24995902	24995902	Human		name
152166019	CV1612848	single nucleotide variant	NM_001330360.2(POLA1):c.3633C>A (p.Thr1211=)	not provided [RCV002160560]	likely benign	X	24826498	24826498	Human		name
152122303	CV1613517	single nucleotide variant	NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)	POLA1-related disorder [RCV003933512]\|X-linked reticulate pigmentary disorder [RCV002494337]\|not provided [RCV002081721]	likely benign	X	24995926	24995926	Human	2	name , trait , alternate_id
152045243	CV1614144	single nucleotide variant	NM_001330360.2(POLA1):c.3600G>C (p.Ala1200=)	not provided [RCV002166202]	likely benign	X	24826465	24826465	Human		name
152163256	CV1618965	single nucleotide variant	NM_001330360.2(POLA1):c.3765T>C (p.His1255=)	not provided [RCV002123578]	likely benign	X	24841680	24841680	Human		name
152104510	CV1622651	single nucleotide variant	NM_001330360.2(POLA1):c.4002C>T (p.Asn1334=)	not provided [RCV002214622]	likely benign	X	24843632	24843632	Human		name
152108251	CV1623400	single nucleotide variant	NM_001330360.2(POLA1):c.4407A>G (p.Ter1469=)	not provided [RCV002215113]	likely benign	X	24995950	24995950	Human		name
152141841	CV1629008	single nucleotide variant	NM_001330360.2(POLA1):c.3210G>A (p.Ser1070=)	not provided [RCV002100884]	likely benign	X	24812777	24812777	Human		name
152044189	CV1643314	single nucleotide variant	NM_001330360.2(POLA1):c.3180G>A (p.Lys1060=)	not provided [RCV002206729]	likely benign	X	24812747	24812747	Human		name
152133926	CV1652091	single nucleotide variant	NM_001330360.2(POLA1):c.3195T>C (p.Val1065=)	not provided [RCV002199690]	likely benign	X	24812762	24812762	Human		name
152153843	CV1657859	single nucleotide variant	NM_001330360.2(POLA1):c.557T>C (p.Ile186Thr)	not provided [RCV002179861]	benign	X	24716393	24716393	Human		name
152029901	CV1664761	single nucleotide variant	NM_001330360.2(POLA1):c.4395C>G (p.Ala1465=)	not provided [RCV002105745]	likely benign	X	24995938	24995938	Human		name
152103844	CV1667529	single nucleotide variant	NM_001330360.2(POLA1):c.568A>G (p.Lys190Glu)	not provided [RCV002214517]	conflicting interpretations of pathogenicity\|uncertain significance	X	24716404	24716404	Human		name
152999703	CV1683272	single nucleotide variant	NM_001330360.2(POLA1):c.878C>T (p.Ala293Val)	See cases [RCV002252456]\|not provided [RCV003688955]	uncertain significance	X	24717461	24717461	Human		name
153349360	CV1693166	single nucleotide variant	NM_001330360.2(POLA1):c.632G>A (p.Gly211Glu)	not provided [RCV002275761]	uncertain significance	X	24716897	24716897	Human		name
155749349	CV1775565	single nucleotide variant	NM_001330360.2(POLA1):c.400G>A (p.Val134Met)	not provided [RCV002304556]	uncertain significance	X	24714607	24714607	Human		name
155728304	CV1776191	single nucleotide variant	NM_001330360.2(POLA1):c.955G>C (p.Gly319Arg)	not provided [RCV002301595]	uncertain significance	X	24717626	24717626	Human		name
156390386	CV1872631	single nucleotide variant	NM_001330360.2(POLA1):c.3384T>C (p.Asn1128=)	not provided [RCV003051247]	likely benign	X	24815066	24815066	Human		name
156065981	CV1888798	single nucleotide variant	NM_001330360.2(POLA1):c.4192C>T (p.Leu1398=)	not provided [RCV003079379]	likely benign	X	24930480	24930480	Human		name
156197497	CV1897188	single nucleotide variant	NM_001330360.2(POLA1):c.3165G>A (p.Leu1055=)	not provided [RCV002574628]	likely benign	X	24812732	24812732	Human		name
156086361	CV1898993	single nucleotide variant	NM_001330360.2(POLA1):c.923C>T (p.Pro308Leu)	not provided [RCV003080051]	likely benign	X	24717594	24717594	Human		name
155959028	CV1911961	single nucleotide variant	NM_001330360.2(POLA1):c.590C>T (p.Pro197Leu)	Inborn genetic diseases [RCV005399135]\|not provided [RCV002616639]	benign\|likely benign	X	24716426	24716426	Human	1	name
156215328	CV1931034	single nucleotide variant	NM_001330360.2(POLA1):c.3957C>T (p.Ile1319=)	not provided [RCV002644175]	benign	X	24843587	24843587	Human		name
156442552	CV1938780	single nucleotide variant	NM_001330360.2(POLA1):c.4086A>C (p.Arg1362=)	not provided [RCV003112898]	benign\|likely benign	X	24888044	24888044	Human		name
156088809	CV1953461	single nucleotide variant	NM_001330360.2(POLA1):c.3540T>G (p.Thr1180=)	not provided [RCV002570151]	likely benign	X	24821562	24821562	Human		name
156419601	CV1977640	single nucleotide variant	NM_001330360.2(POLA1):c.4180C>T (p.Leu1394=)	not provided [RCV002612840]	benign	X	24930468	24930468	Human		name
156178262	CV1978678	single nucleotide variant	NM_001330360.2(POLA1):c.622G>T (p.Val208Phe)	not provided [RCV002594983]	uncertain significance	X	24716887	24716887	Human		name
156326967	CV1980680	single nucleotide variant	NM_001330360.2(POLA1):c.3747C>G (p.Pro1249=)	not provided [RCV002630707]	likely benign	X	24841662	24841662	Human		name
155915910	CV1980861	single nucleotide variant	NM_001330360.2(POLA1):c.3639C>T (p.Asp1213=)	not provided [RCV002614312]	likely benign	X	24826504	24826504	Human		name
156080577	CV1982730	single nucleotide variant	NM_001330360.2(POLA1):c.4332G>A (p.Glu1444=)	not provided [RCV002638885]	likely benign	X	24995875	24995875	Human		name
156414703	CV1982947	single nucleotide variant	NM_001330360.2(POLA1):c.949C>A (p.Gln317Lys)	not provided [RCV002609325]	uncertain significance	X	24717620	24717620	Human		name
156008583	CV1989541	single nucleotide variant	NM_001330360.2(POLA1):c.898G>A (p.Val300Met)	not provided [RCV002636103]	uncertain significance	X	24717481	24717481	Human		name
156285962	CV2001714	single nucleotide variant	NM_001330360.2(POLA1):c.322G>T (p.Asp108Tyr)	not provided [RCV002647009]	uncertain significance	X	24704445	24704445	Human		name
156014572	CV2046491	single nucleotide variant	NM_001330360.2(POLA1):c.368A>G (p.Asn123Ser)	not provided [RCV002795284]	uncertain significance	X	24714575	24714575	Human		name
156297508	CV2069728	single nucleotide variant	NM_001330360.2(POLA1):c.371A>G (p.Lys124Arg)	not provided [RCV002833467]	uncertain significance	X	24714578	24714578	Human		name
156310362	CV2082293	single nucleotide variant	NM_001330360.2(POLA1):c.4257G>A (p.Glu1419=)	not provided [RCV002898678]	likely benign	X	24930545	24930545	Human		name
155968580	CV2082927	single nucleotide variant	NM_001330360.2(POLA1):c.4224G>A (p.Glu1408=)	not provided [RCV002881375]	likely benign	X	24930512	24930512	Human		name
156230933	CV2085266	single nucleotide variant	NM_001330360.2(POLA1):c.3174A>G (p.Lys1058=)	not provided [RCV002876234]	likely benign	X	24812741	24812741	Human		name
156091292	CV2102679	single nucleotide variant	NM_001330360.2(POLA1):c.3528A>G (p.Lys1176=)	not provided [RCV002913047]	likely benign	X	24821550	24821550	Human		name
155949681	CV2104787	single nucleotide variant	NM_001330360.2(POLA1):c.3798A>G (p.Leu1266=)	not provided [RCV002904993]	likely benign	X	24841713	24841713	Human		name
156143364	CV2134227	single nucleotide variant	NM_001330360.2(POLA1):c.691C>T (p.Arg231Cys)	not provided [RCV002982395]	benign	X	24716956	24716956	Human		name
156248969	CV2174467	single nucleotide variant	NM_001330360.2(POLA1):c.4371G>A (p.Leu1457=)	not provided [RCV003043718]	likely benign	X	24995914	24995914	Human		name
156065467	CV2175928	single nucleotide variant	NM_001330360.2(POLA1):c.3027A>G (p.Thr1009=)	not provided [RCV003053551]	likely benign	X	24810737	24810737	Human		name
156063864	CV2179723	single nucleotide variant	NM_001330360.2(POLA1):c.935G>C (p.Cys312Ser)	not provided [RCV003053504]	uncertain significance	X	24717606	24717606	Human		name
156284501	CV2187052	single nucleotide variant	NM_001330360.2(POLA1):c.461A>T (p.Asp154Val)	not provided [RCV003044891]	uncertain significance	X	24714668	24714668	Human		name
243050595	CV2413460	single nucleotide variant	NM_001330360.2(POLA1):c.356G>T (p.Gly119Val)	Inborn genetic diseases [RCV004246046]\|not provided [RCV003130291]	uncertain significance	X	24714563	24714563	Human	1	name
329954749	CV2670678	single nucleotide variant	NM_001330360.2(POLA1):c.682C>T (p.Pro228Ser)	not provided [RCV003235946]	uncertain significance	X	24716947	24716947	Human		name
401796667	CV2739646	single nucleotide variant	NM_001330360.2(POLA1):c.320A>G (p.Asp107Gly)	not provided [RCV003319607]	uncertain significance	X	24704443	24704443	Human		name
401868029	CV2749186	single nucleotide variant	NM_001330360.2(POLA1):c.383A>G (p.Asn128Ser)	not specified [RCV003332012]	uncertain significance	X	24714590	24714590	Human		name
401919151	CV2794777	single nucleotide variant	NM_001330360.2(POLA1):c.410C>T (p.Pro137Leu)	not specified [RCV003388452]	uncertain significance	X	24714617	24714617	Human		name
401903552	CV2800018	single nucleotide variant	NM_001330360.2(POLA1):c.350A>G (p.Lys117Arg)	POLA1-related disorder [RCV003394474]\|not provided [RCV005062919]	uncertain significance	X	24714557	24714557	Human	1	name , trait , alternate_id
401906156	CV2802354	single nucleotide variant	NM_001330360.2(POLA1):c.625C>T (p.Pro209Ser)	POLA1-related disorder [RCV003421033]	uncertain significance	X	24716890	24716890	Human		name , trait , alternate_id
401918847	CV2821385	single nucleotide variant	NM_001330360.2(POLA1):c.373G>A (p.Asp125Asn)	not provided [RCV003430476]	uncertain significance	X	24714580	24714580	Human		name
401917616	CV2829931	single nucleotide variant	NM_001330360.2(POLA1):c.790A>G (p.Met264Val)	not provided [RCV003443975]	uncertain significance	X	24717373	24717373	Human		name
402524166	CV2868295	deletion	NM_001330360.2(POLA1):c.2511del (p.Gly839fs)	not provided [RCV003547988]	uncertain significance	X	24743274	24743274	Human		name
405069480	CV2876345	single nucleotide variant	NM_001330360.2(POLA1):c.365G>A (p.Arg122His)	not provided [RCV003548441]	uncertain significance	X	24714572	24714572	Human		name
405147919	CV2881775	single nucleotide variant	NM_001330360.2(POLA1):c.941A>G (p.Asp314Gly)	not provided [RCV003561507]	uncertain significance	X	24717612	24717612	Human		name
405173711	CV2907816	single nucleotide variant	NM_001330360.2(POLA1):c.416A>G (p.Asn139Ser)	not provided [RCV003563352]	uncertain significance	X	24714623	24714623	Human		name
402475983	CV2916859	single nucleotide variant	NM_001330360.2(POLA1):c.333T>G (p.Asp111Glu)	not provided [RCV003571430]	uncertain significance	X	24704456	24704456	Human		name
402484904	CV2944945	single nucleotide variant	NM_001330360.2(POLA1):c.3456C>T (p.Tyr1152=)	not provided [RCV003659981]	likely benign	X	24821478	24821478	Human		name
405092927	CV2947121	single nucleotide variant	NM_001330360.2(POLA1):c.3837C>T (p.Tyr1279=)	not provided [RCV003665415]	benign	X	24841752	24841752	Human		name
405182966	CV2952804	single nucleotide variant	NM_001330360.2(POLA1):c.427A>G (p.Met143Val)	not provided [RCV003676465]	uncertain significance	X	24714634	24714634	Human		name
405190906	CV2964804	single nucleotide variant	NM_001330360.2(POLA1):c.4278A>G (p.Gln1426=)	not provided [RCV003677190]	likely benign	X	24995821	24995821	Human		name
405238705	CV2996832	single nucleotide variant	NM_001330360.2(POLA1):c.3291T>C (p.Thr1097=)	not provided [RCV003718717]	likely benign	X	24812858	24812858	Human		name
402487030	CV2999141	single nucleotide variant	NM_001330360.2(POLA1):c.691C>A (p.Arg231Ser)	not provided [RCV003687163]	uncertain significance	X	24716956	24716956	Human		name
405077344	CV3008108	single nucleotide variant	NM_001330360.2(POLA1):c.647C>T (p.Pro216Leu)	not provided [RCV003716841]	uncertain significance	X	24716912	24716912	Human		name
402499180	CV3016092	single nucleotide variant	NM_001330360.2(POLA1):c.3072A>T (p.Val1024=)	not provided [RCV003688315]	likely benign	X	24810782	24810782	Human		name
405123661	CV3021055	single nucleotide variant	NM_001330360.2(POLA1):c.964A>G (p.Ser322Gly)	not provided [RCV003701023]	uncertain significance	X	24717635	24717635	Human		name
405161721	CV3021643	single nucleotide variant	NM_001330360.2(POLA1):c.490C>G (p.Leu164Val)	not provided [RCV003704011]	uncertain significance	X	24715168	24715168	Human		name
405056439	CV3023369	single nucleotide variant	NM_001330360.2(POLA1):c.3705A>C (p.Gly1235=)	not provided [RCV003697372]	likely benign	X	24826570	24826570	Human		name
405076229	CV3031598	single nucleotide variant	NM_001330360.2(POLA1):c.3027A>C (p.Thr1009=)	not provided [RCV003698563]	likely benign	X	24810737	24810737	Human		name
405219780	CV3045791	single nucleotide variant	NM_001330360.2(POLA1):c.763T>G (p.Phe255Val)	Inborn genetic diseases [RCV004661745]\|not provided [RCV003733028]	likely benign\|uncertain significance	X	24717346	24717346	Human	1	name
405244328	CV3050567	single nucleotide variant	NM_001330360.2(POLA1):c.3364C>T (p.Leu1122=)	not provided [RCV003719955]	benign	X	24815046	24815046	Human		name
405203496	CV3063260	single nucleotide variant	NM_001330360.2(POLA1):c.397G>A (p.Ala133Thr)	not provided [RCV003731037]	uncertain significance	X	24714604	24714604	Human		name
405113640	CV3118784	single nucleotide variant	NM_001330360.2(POLA1):c.3729G>A (p.Thr1243=)	not provided [RCV003814012]	likely benign	X	24826594	24826594	Human		name
405207643	CV3120512	single nucleotide variant	NM_001330360.2(POLA1):c.3801T>C (p.Leu1267=)	not provided [RCV003822846]	likely benign	X	24841716	24841716	Human		name
405186608	CV3149083	single nucleotide variant	NM_001330360.2(POLA1):c.3669C>T (p.His1223=)	POLA1-related disorder [RCV003909185]\|not provided [RCV003843007]	likely benign	X	24826534	24826534	Human	1	name , trait , alternate_id
405041390	CV3154018	single nucleotide variant	NM_001330360.2(POLA1):c.3321T>G (p.Ser1107=)	not provided [RCV003848886]	likely benign	X	24815003	24815003	Human		name
405854749	CV3394864	single nucleotide variant	NM_001330360.2(POLA1):c.644C>T (p.Ser215Phe)	not provided [RCV004555005]	uncertain significance	X	24716909	24716909	Human		name
407426551	CV3410003	single nucleotide variant	NM_001330360.2(POLA1):c.919C>T (p.Leu307Phe)	not provided [RCV004585935]	uncertain significance	X	24717590	24717590	Human		name
407457338	CV3416109	single nucleotide variant	NM_001330360.2(POLA1):c.3282T>C (p.Ala1094=)	not provided [RCV004598987]	likely benign	X	24812849	24812849	Human		name
408380633	CV3523612	single nucleotide variant	NM_001330360.2(POLA1):c.949C>G (p.Gln317Glu)	not provided [RCV004766010]	uncertain significance	X	24717620	24717620	Human		name
408391285	CV3527948	single nucleotide variant	NM_001330360.2(POLA1):c.349A>G (p.Lys117Glu)	not provided [RCV004775220]	uncertain significance	X	24714556	24714556	Human		name
596931111	CV3529955	single nucleotide variant	NM_001330360.2(POLA1):c.775G>A (p.Asp259Asn)	not provided [RCV004781005]	uncertain significance	X	24717358	24717358	Human		name
596929059	CV3540758	single nucleotide variant	NM_001330360.2(POLA1):c.436G>T (p.Ala146Ser)	not provided [RCV004795086]	uncertain significance	X	24714643	24714643	Human		name
596948192	CV3549273	single nucleotide variant	NM_001330360.2(POLA1):c.416A>T (p.Asn139Ile)	not provided [RCV004812093]	likely benign	X	24714623	24714623	Human		name
597649727	CV3551805	single nucleotide variant	NM_001330360.2(POLA1):c.575C>T (p.Ser192Phe)	not provided [RCV004820518]	uncertain significance	X	24716411	24716411	Human		name
597719913	CV3733549	single nucleotide variant	NM_001330360.2(POLA1):c.389A>G (p.Lys130Arg)	not provided [RCV005052739]	uncertain significance	X	24714596	24714596	Human		name
597901421	CV3741354	single nucleotide variant	NM_001330360.2(POLA1):c.3051T>C (p.Asn1017=)	not provided [RCV005072325]	likely benign	X	24810761	24810761	Human		name
597858960	CV3748324	single nucleotide variant	NM_001330360.2(POLA1):c.3162A>G (p.Leu1054=)	not provided [RCV005067146]	likely benign	X	24812729	24812729	Human		name
597929313	CV3749240	single nucleotide variant	NM_001330360.2(POLA1):c.3546A>G (p.Ser1182=)	not provided [RCV005075696]	likely benign	X	24821568	24821568	Human		name
597967943	CV3752141	single nucleotide variant	NM_001330360.2(POLA1):c.3675C>T (p.Val1225=)	not provided [RCV005083335]	likely benign	X	24826540	24826540	Human		name
597858982	CV3755896	single nucleotide variant	NM_001330360.2(POLA1):c.3612G>A (p.Leu1204=)	not provided [RCV005089047]	likely benign	X	24826477	24826477	Human		name
597935724	CV3759464	single nucleotide variant	NM_001330360.2(POLA1):c.943A>G (p.Ile315Val)	not provided [RCV005076584]	uncertain significance	X	24717614	24717614	Human		name
597833211	CV3760410	single nucleotide variant	NM_001330360.2(POLA1):c.3207G>A (p.Thr1069=)	not provided [RCV005085153]	likely benign	X	24812774	24812774	Human		name
597907783	CV3781564	single nucleotide variant	NM_001330360.2(POLA1):c.3696A>G (p.Pro1232=)	not provided [RCV005128252]	likely benign	X	24826561	24826561	Human		name
597969115	CV3791205	single nucleotide variant	NM_001330360.2(POLA1):c.481A>G (p.Lys161Glu)	not provided [RCV005141237]	uncertain significance	X	24715159	24715159	Human		name
597957130	CV3800359	single nucleotide variant	NM_001330360.2(POLA1):c.4371G>T (p.Leu1457=)	not provided [RCV005137451]	likely benign	X	24995914	24995914	Human		name
597871829	CV3805203	insertion	NM_001330360.2(POLA1):c.3297-16_3297-15insGT	not provided [RCV005148481]	likely benign	X	24814962	24814963	Human		name
597944189	CV3812474	single nucleotide variant	NM_001330360.2(POLA1):c.3141T>C (p.Asp1047=)	not provided [RCV005159684]	likely benign	X	24812708	24812708	Human		name
597915990	CV3814565	single nucleotide variant	NM_001330360.2(POLA1):c.977A>G (p.Gln326Arg)	not provided [RCV005154880]	uncertain significance	X	24717648	24717648	Human		name
597940678	CV3819101	single nucleotide variant	NM_001330360.2(POLA1):c.757A>G (p.Met253Val)	not provided [RCV005158912]	uncertain significance	X	24717340	24717340	Human		name
597962884	CV3819476	single nucleotide variant	NM_001330360.2(POLA1):c.760G>C (p.Glu254Gln)	not provided [RCV005164192]	uncertain significance	X	24717343	24717343	Human		name
597963456	CV3819626	single nucleotide variant	NM_001330360.2(POLA1):c.860A>T (p.Glu287Val)	not provided [RCV005164342]	uncertain significance	X	24717443	24717443	Human		name
597974355	CV3831592	single nucleotide variant	NM_001330360.2(POLA1):c.4113C>T (p.Ser1371=)	not provided [RCV005168531]	likely benign	X	24888071	24888071	Human		name
597883754	CV3834813	single nucleotide variant	NM_001330360.2(POLA1):c.3465A>G (p.Lys1155=)	not provided [RCV005178536]	benign	X	24821487	24821487	Human		name
597910893	CV3850438	single nucleotide variant	NM_001330360.2(POLA1):c.3747C>T (p.Pro1249=)	not provided [RCV005203586]	likely benign	X	24841662	24841662	Human		name
597935070	CV3863606	single nucleotide variant	NM_001330360.2(POLA1):c.432C>G (p.Phe144Leu)	not provided [RCV005207419]	uncertain significance	X	24714639	24714639	Human		name
13592732	CV513686	single nucleotide variant	NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp)	X-linked reticulate pigmentary disorder [RCV000626207]	uncertain significance	X	24714619	24714619	Human	1	name
14397370	CV613244	single nucleotide variant	NM_001330360.2(POLA1):c.323A>G (p.Asp108Gly)	not provided [RCV000762613]	uncertain significance	X	24704446	24704446	Human		name
14689867	CV615988	single nucleotide variant	NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg)	X-linked intellectual disability, van Esch type [RCV000791333]	pathogenic	X	24704469	24704469	Human	1	name
15101966	CV729553	single nucleotide variant	NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)	X-linked reticulate pigmentary disorder [RCV002487956]\|not provided [RCV000892384]	benign\|likely benign	X	24995899	24995899	Human	1	name
126732181	CV1022160	deletion	NM_001330360.2(POLA1):c.3469del (p.Ser1157fs)	Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV001333935]	pathogenic	X	24821485	24821485	Human		name
127278019	CV1086520	single nucleotide variant	NM_001330360.2(POLA1):c.1012G>A (p.Val338Ile)	Inborn genetic diseases [RCV002553990]\|not provided [RCV001408222]	likely benign	X	24717683	24717683	Human	1	name
127271931	CV1086521	single nucleotide variant	NM_001330360.2(POLA1):c.1504C>T (p.Pro502Ser)	Inborn genetic diseases [RCV002553419]\|POLA1-related disorder [RCV003938686]\|not provided [RCV001405522]	likely benign	X	24727044	24727044	Human	2	name , trait , alternate_id
127302164	CV1159549	single nucleotide variant	NM_001330360.2(POLA1):c.2236T>C (p.Tyr746His)	X-linked intellectual disability, van Esch type [RCV004594288]\|not provided [RCV001514955]	benign\|likely benign	X	24741394	24741394	Human	1	name
127312230	CV1159550	single nucleotide variant	NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)	X-linked intellectual disability, van Esch type [RCV004594290]\|X-linked reticulate pigmentary disorder [RCV002501812]\|not provided [RCV001518877]	benign\|likely benign	X	24741425	24741425	Human	2	name
127296295	CV1162291	single nucleotide variant	NM_001330360.2(POLA1):c.1193G>A (p.Arg398His)	X-linked reticulate pigmentary disorder [RCV001527404]\|not provided [RCV001873721]	uncertain significance	X	24723260	24723260	Human	1	name
150550740	CV1305115	single nucleotide variant	NM_001330360.2(POLA1):c.2468G>A (p.Gly823Glu)	not provided [RCV001765895]	uncertain significance	X	24743231	24743231	Human		name
151868760	CV1345659	single nucleotide variant	NM_001330360.2(POLA1):c.2446A>G (p.Arg816Gly)	not provided [RCV001924930]	uncertain significance	X	24742101	24742101	Human		name
151852309	CV1357131	single nucleotide variant	NM_001330360.2(POLA1):c.1757A>G (p.Gln586Arg)	not provided [RCV001904260]	uncertain significance	X	24732440	24732440	Human		name
151772683	CV1357315	single nucleotide variant	NM_001330360.2(POLA1):c.2389T>G (p.Leu797Val)	not provided [RCV001864229]	uncertain significance	X	24742044	24742044	Human		name
151851168	CV1361971	single nucleotide variant	NM_001330360.2(POLA1):c.2516G>A (p.Gly839Glu)	Inborn genetic diseases [RCV002562230]\|X-linked intellectual disability, van Esch type [RCV004728975]\|not provided [RCV001978959]	uncertain significance	X	24743279	24743279	Human	2	name
151842762	CV1363193	single nucleotide variant	NM_001330360.2(POLA1):c.2674G>A (p.Ala892Thr)	Inborn genetic diseases [RCV004044867]\|not provided [RCV002032019]	uncertain significance	X	24745525	24745525	Human	1	name
151857033	CV1363733	single nucleotide variant	NM_001330360.2(POLA1):c.2888A>G (p.Tyr963Cys)	not provided [RCV001904814]	uncertain significance	X	24748916	24748916	Human		name
151839953	CV1391328	single nucleotide variant	NM_001330360.2(POLA1):c.2471A>G (p.Asp824Gly)	Inborn genetic diseases [RCV002573377]\|not provided [RCV001977567]	benign\|uncertain significance	X	24743234	24743234	Human	1	name
151720068	CV1396520	single nucleotide variant	NM_001330360.2(POLA1):c.2653G>C (p.Val885Leu)	Inborn genetic diseases [RCV003166969]\|not provided [RCV001890954]	uncertain significance	X	24745504	24745504	Human	1	name
151856326	CV1401865	single nucleotide variant	NM_001330360.2(POLA1):c.1747C>T (p.Pro583Ser)	not provided [RCV002017224]	uncertain significance	X	24732430	24732430	Human		name
151862803	CV1409143	single nucleotide variant	NM_001330360.2(POLA1):c.1217C>T (p.Thr406Met)	Inborn genetic diseases [RCV004039893]\|not provided [RCV001905515]	benign\|likely benign\|uncertain significance	X	24724351	24724351	Human	1	name
151768438	CV1410473	single nucleotide variant	NM_001330360.2(POLA1):c.2693A>T (p.Asp898Val)	Inborn genetic diseases [RCV002562960]\|not provided [RCV001988011]	uncertain significance	X	24748312	24748312	Human	1	name
151756328	CV1410645	single nucleotide variant	NM_001330360.2(POLA1):c.2197A>G (p.Asn733Asp)	not provided [RCV001969698]	uncertain significance	X	24739531	24739531	Human		name
151793451	CV1423084	single nucleotide variant	NM_001330360.2(POLA1):c.2138A>G (p.His713Arg)	not provided [RCV001917039]	uncertain significance	X	24739472	24739472	Human		name
151772733	CV1427662	single nucleotide variant	NM_001330360.2(POLA1):c.1603A>G (p.Ile535Val)	not provided [RCV001915141]	uncertain significance	X	24727853	24727853	Human		name
151744956	CV1432961	single nucleotide variant	NM_001330360.2(POLA1):c.2213A>G (p.Tyr738Cys)	not provided [RCV001968536]	likely benign\|uncertain significance	X	24739547	24739547	Human		name
151709645	CV1433244	single nucleotide variant	NM_001330360.2(POLA1):c.2045G>A (p.Arg682Gln)	not provided [RCV002001687]	uncertain significance	X	24739379	24739379	Human		name
151710166	CV1433642	single nucleotide variant	NM_001330360.2(POLA1):c.2617T>G (p.Ser873Ala)	not provided [RCV002001793]	uncertain significance	X	24745468	24745468	Human		name
151841711	CV1438261	single nucleotide variant	NM_001330360.2(POLA1):c.2816A>C (p.Asp939Ala)	not provided [RCV001921611]	uncertain significance	X	24748435	24748435	Human		name
151853767	CV1457144	single nucleotide variant	NM_001330360.2(POLA1):c.2116T>A (p.Leu706Met)	not provided [RCV001883075]	uncertain significance	X	24739450	24739450	Human		name
151836872	CV1469695	single nucleotide variant	NM_001330360.2(POLA1):c.2348C>T (p.Ser783Phe)	not provided [RCV001880886]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	24742003	24742003	Human		name
151775217	CV1478551	single nucleotide variant	NM_001330360.2(POLA1):c.1168G>A (p.Glu390Lys)	not provided [RCV002045627]	benign\|uncertain significance	X	24723235	24723235	Human		name
151748820	CV1478916	single nucleotide variant	NM_001330360.2(POLA1):c.1802C>A (p.Pro601Gln)	Inborn genetic diseases [RCV004956145]\|not provided [RCV002023153]	uncertain significance	X	24733785	24733785	Human	1	name
151793027	CV1490253	single nucleotide variant	NM_001330360.2(POLA1):c.2038G>T (p.Gly680Trp)	not provided [RCV001952225]	uncertain significance	X	24737739	24737739	Human		name
151720881	CV1494584	single nucleotide variant	NM_001330360.2(POLA1):c.1214A>G (p.Asn405Ser)	not provided [RCV001965956]	uncertain significance	X	24724348	24724348	Human		name
151887025	CV1496035	single nucleotide variant	NM_001330360.2(POLA1):c.2742G>A (p.Met914Ile)	not provided [RCV001887683]	uncertain significance	X	24748361	24748361	Human		name
151719316	CV1498000	single nucleotide variant	NM_001330360.2(POLA1):c.2799G>C (p.Gln933His)	not provided [RCV001965720]	uncertain significance	X	24748418	24748418	Human		name
151848110	CV1502568	single nucleotide variant	NM_001330360.2(POLA1):c.1240A>G (p.Ile414Val)	not provided [RCV001882236]	uncertain significance	X	24724374	24724374	Human		name
151787189	CV1504639	single nucleotide variant	NM_001330360.2(POLA1):c.1763A>G (p.His588Arg)	Inborn genetic diseases [RCV003264335]\|not provided [RCV001951672]	uncertain significance	X	24732446	24732446	Human	1	name
151773855	CV1504896	single nucleotide variant	NM_001330360.2(POLA1):c.1957C>G (p.Leu653Val)	not provided [RCV002009103]	uncertain significance	X	24737658	24737658	Human		name
151773942	CV1504999	single nucleotide variant	NM_001330360.2(POLA1):c.2683G>A (p.Val895Ile)	not provided [RCV001988507]	uncertain significance	X	24745534	24745534	Human		name
151723302	CV1511906	single nucleotide variant	NM_001330360.2(POLA1):c.1175C>T (p.Thr392Met)	not provided [RCV002003962]	benign\|uncertain significance	X	24723242	24723242	Human		name
153301269	CV1689117	single nucleotide variant	NM_001330360.2(POLA1):c.1931A>G (p.Asn644Ser)	X-linked intellectual disability, van Esch type [RCV002266845]\|not provided [RCV003096053]	uncertain significance	X	24737632	24737632	Human	1	name
153302006	CV1689405	single nucleotide variant	NM_001330360.2(POLA1):c.1387T>C (p.Tyr463His)	not provided [RCV002267355]	uncertain significance	X	24726050	24726050	Human		name
153349050	CV1693323	single nucleotide variant	NM_001330360.2(POLA1):c.2831T>C (p.Leu944Pro)	not provided [RCV002275434]	uncertain significance	X	24748450	24748450	Human		name
153347883	CV1694932	single nucleotide variant	NM_001330360.2(POLA1):c.1901A>G (p.Lys634Arg)	not provided [RCV002278862]	uncertain significance	X	24735466	24735466	Human		name
155746582	CV1771652	single nucleotide variant	NM_001330360.2(POLA1):c.1764C>G (p.His588Gln)	not provided [RCV002303432]	uncertain significance	X	24732447	24732447	Human		name
155749428	CV1773796	single nucleotide variant	NM_001330360.2(POLA1):c.1534C>T (p.Leu512Phe)	not provided [RCV002304641]	uncertain significance	X	24727784	24727784	Human		name
155730118	CV1780735	single nucleotide variant	NM_001330360.2(POLA1):c.2242T>G (p.Leu748Val)	not specified [RCV002308519]	uncertain significance	X	24741400	24741400	Human		name
155798496	CV1860684	single nucleotide variant	NM_001330360.2(POLA1):c.1535T>C (p.Leu512Pro)	not provided [RCV002467327]	uncertain significance	X	24727785	24727785	Human		name
156281771	CV1877119	single nucleotide variant	NM_001330360.2(POLA1):c.2369G>A (p.Arg790Gln)	Inborn genetic diseases [RCV005399085]\|not provided [RCV003061088]	conflicting interpretations of pathogenicity\|uncertain significance	X	24742024	24742024	Human	1	name
156316076	CV1903579	single nucleotide variant	NM_001330360.2(POLA1):c.1060G>A (p.Ala354Thr)	Inborn genetic diseases [RCV005399112]\|not provided [RCV003088727]	uncertain significance	X	24717731	24717731	Human	1	name
156084665	CV1909170	single nucleotide variant	NM_001330360.2(POLA1):c.2083A>G (p.Met695Val)	Inborn genetic diseases [RCV002591695]\|not provided [RCV002591694]	benign\|likely benign	X	24739417	24739417	Human	1	name
156407208	CV1918028	single nucleotide variant	NM_001330360.2(POLA1):c.1054T>G (p.Leu352Val)	not provided [RCV002606826]\|not specified [RCV003230769]	uncertain significance	X	24717725	24717725	Human		name
156438617	CV1947227	single nucleotide variant	NM_001330360.2(POLA1):c.2378G>A (p.Arg793His)	not provided [RCV003108562]	uncertain significance	X	24742033	24742033	Human		name
156408135	CV1957736	single nucleotide variant	NM_001330360.2(POLA1):c.2653G>T (p.Val885Leu)	not provided [RCV002586429]	uncertain significance	X	24745504	24745504	Human		name
156133743	CV1962823	single nucleotide variant	NM_001330360.2(POLA1):c.2329A>G (p.Ile777Val)	Inborn genetic diseases [RCV005398933]\|not provided [RCV002572323]	uncertain significance	X	24741487	24741487	Human	1	name
156397251	CV1965682	single nucleotide variant	NM_001330360.2(POLA1):c.1633G>A (p.Val545Met)	not provided [RCV002584499]	benign	X	24727883	24727883	Human		name
156416137	CV1966485	single nucleotide variant	NM_001330360.2(POLA1):c.1670A>G (p.Lys557Arg)	not provided [RCV002589546]	uncertain significance	X	24727920	24727920	Human		name
156417597	CV1967051	single nucleotide variant	NM_001330360.2(POLA1):c.1237C>T (p.Pro413Ser)	not provided [RCV002590275]	uncertain significance	X	24724371	24724371	Human		name
156330623	CV1969925	single nucleotide variant	NM_001330360.2(POLA1):c.1109A>G (p.Lys370Arg)	not provided [RCV002600772]	uncertain significance	X	24723176	24723176	Human		name
155981611	CV1972459	single nucleotide variant	NM_001330360.2(POLA1):c.2191A>G (p.Met731Val)	Inborn genetic diseases [RCV004065783]\|not provided [RCV002617627]	benign\|likely benign	X	24739525	24739525	Human	1	name
156381507	CV1978789	single nucleotide variant	NM_001330360.2(POLA1):c.2530G>C (p.Ala844Pro)	not provided [RCV002603997]	uncertain significance	X	24743293	24743293	Human		name
156003055	CV1987955	single nucleotide variant	NM_001330360.2(POLA1):c.1011G>C (p.Leu337Phe)	not provided [RCV002618541]	uncertain significance	X	24717682	24717682	Human		name
156115136	CV1998835	single nucleotide variant	NM_001330360.2(POLA1):c.1391C>T (p.Ser464Leu)	not provided [RCV002640093]	uncertain significance	X	24726054	24726054	Human		name
155941196	CV2022313	single nucleotide variant	NM_001330360.2(POLA1):c.1018G>A (p.Gly340Arg)	not provided [RCV002730126]	uncertain significance	X	24717689	24717689	Human		name
155953587	CV2043871	single nucleotide variant	NM_001330360.2(POLA1):c.1793G>A (p.Cys598Tyr)	not provided [RCV002775903]	uncertain significance	X	24733776	24733776	Human		name
156001852	CV2057487	single nucleotide variant	NM_001330360.2(POLA1):c.1154T>C (p.Met385Thr)	not provided [RCV002819691]	uncertain significance	X	24723221	24723221	Human		name
156221580	CV2067916	single nucleotide variant	NM_001330360.2(POLA1):c.1430A>G (p.Glu477Gly)	not provided [RCV002829705]	uncertain significance	X	24726970	24726970	Human		name
155936717	CV2074926	single nucleotide variant	NM_001330360.2(POLA1):c.2677C>G (p.Gln893Glu)	not provided [RCV002861493]	uncertain significance	X	24745528	24745528	Human		name
156042824	CV2094206	single nucleotide variant	NM_001330360.2(POLA1):c.1573A>G (p.Met525Val)	Inborn genetic diseases [RCV004958798]\|not provided [RCV002885878]\|not specified [RCV003994469]	benign\|likely benign\|uncertain significance	X	24727823	24727823	Human	1	name
156270759	CV2135304	single nucleotide variant	NM_001330360.2(POLA1):c.2752C>T (p.Pro918Ser)	not provided [RCV002988814]	uncertain significance	X	24748371	24748371	Human		name
155961534	CV2138427	single nucleotide variant	NM_001330360.2(POLA1):c.1124C>T (p.Ser375Leu)	not provided [RCV002972409]	uncertain significance	X	24723191	24723191	Human		name
156185067	CV2163998	single nucleotide variant	NM_001330360.2(POLA1):c.2584A>C (p.Ile862Leu)	not provided [RCV003023951]	uncertain significance	X	24745435	24745435	Human		name
156235555	CV2180734	single nucleotide variant	NM_001330360.2(POLA1):c.2580G>C (p.Lys860Asn)	not provided [RCV003043252]	uncertain significance	X	24745431	24745431	Human		name
156170731	CV2188167	single nucleotide variant	NM_001330360.2(POLA1):c.1183T>A (p.Phe395Ile)	not provided [RCV003041024]	uncertain significance	X	24723250	24723250	Human		name
156138326	CV2253662	single nucleotide variant	NM_001330360.2(POLA1):c.1114T>A (p.Trp372Arg)	Inborn genetic diseases [RCV002826028]	uncertain significance	X	24723181	24723181	Human	1	name
156005724	CV2290389	single nucleotide variant	NM_001330360.2(POLA1):c.1172G>A (p.Arg391Gln)	Inborn genetic diseases [RCV002883653]	uncertain significance	X	24723239	24723239	Human	1	name
156045514	CV2308089	single nucleotide variant	NM_001330360.2(POLA1):c.1285A>G (p.Thr429Ala)	Inborn genetic diseases [RCV002910895]	likely benign	X	24724419	24724419	Human	1	name
156302218	CV2319517	single nucleotide variant	NM_001330360.2(POLA1):c.1378G>A (p.Glu460Lys)	Inborn genetic diseases [RCV002936460]	uncertain significance	X	24726041	24726041	Human	1	name
156434716	CV2403073	single nucleotide variant	NM_001330360.2(POLA1):c.1627C>T (p.Leu543Phe)	not provided [RCV003127029]	uncertain significance	X	24727877	24727877	Human		name
243059625	CV2413461	single nucleotide variant	NM_001330360.2(POLA1):c.2756G>T (p.Arg919Ile)	Inborn genetic diseases [RCV005399265]\|not provided [RCV003135085]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	24748375	24748375	Human	1	name
243053772	CV2416397	single nucleotide variant	NM_001330360.2(POLA1):c.2729C>T (p.Pro910Leu)	not provided [RCV003149458]	uncertain significance	X	24748348	24748348	Human		name
329402672	CV2451212	single nucleotide variant	NM_001330360.2(POLA1):c.2257A>G (p.Lys753Glu)	Inborn genetic diseases [RCV003199562]	uncertain significance	X	24741415	24741415	Human	1	name
329350852	CV2477682	single nucleotide variant	NM_001330360.2(POLA1):c.1927C>A (p.His643Asn)	not provided [RCV003223794]	uncertain significance	X	24737628	24737628	Human		name
329952575	CV2669975	single nucleotide variant	NM_001330360.2(POLA1):c.2211G>A (p.Met737Ile)	not provided [RCV003233188]	uncertain significance	X	24739545	24739545	Human		name
329954909	CV2670841	single nucleotide variant	NM_001330360.2(POLA1):c.2830C>A (p.Leu944Ile)	not provided [RCV003236109]	uncertain significance	X	24748449	24748449	Human		name
329952395	CV2671745	single nucleotide variant	NM_001330360.2(POLA1):c.1253A>T (p.Asp418Val)	POLA1-related disorder [RCV003936735]\|not provided [RCV003237141]	uncertain significance	X	24724387	24724387	Human	1	name , trait , alternate_id
401749962	CV2695891	single nucleotide variant	NM_001330360.2(POLA1):c.2102T>C (p.Ile701Thr)	Inborn genetic diseases [RCV003253489]	uncertain significance	X	24739436	24739436	Human	1	name
401740259	CV2705943	single nucleotide variant	NM_001330360.2(POLA1):c.2988G>A (p.Met996Ile)	Inborn genetic diseases [RCV003292325]	uncertain significance	X	24809921	24809921	Human	1	name
401829827	CV2747582	single nucleotide variant	NM_001330360.2(POLA1):c.2474A>C (p.Glu825Ala)	not provided [RCV003329048]	uncertain significance	X	24743237	24743237	Human		name
401830504	CV2748206	single nucleotide variant	NM_001330360.2(POLA1):c.2927A>C (p.Lys976Thr)	not provided [RCV003329813]	uncertain significance	X	24748955	24748955	Human		name
401888292	CV2788268	single nucleotide variant	NM_001330360.2(POLA1):c.1618C>T (p.Pro540Ser)	Inborn genetic diseases [RCV003367677]	uncertain significance	X	24727868	24727868	Human	1	name
405689828	CV2794328	single nucleotide variant	NM_001330360.2(POLA1):c.1864A>G (p.Arg622Gly)	Inherited aplastic anemia [RCV003991543]	likely pathogenic	X	24735429	24735429	Human	1	name
405689874	CV2794335	single nucleotide variant	NM_001330360.2(POLA1):c.1627C>A (p.Leu543Ile)	Inherited aplastic anemia [RCV003991550]	likely pathogenic	X	24727877	24727877	Human	1	name
401921008	CV2802191	single nucleotide variant	NM_001330360.2(POLA1):c.2512A>G (p.Lys838Glu)	POLA1-related disorder [RCV003402812]	uncertain significance	X	24743275	24743275	Human		name , trait , alternate_id
401921711	CV2802648	single nucleotide variant	NM_001330360.2(POLA1):c.1768T>G (p.Cys590Gly)	POLA1-related disorder [RCV003403035]\|not provided [RCV003778339]	uncertain significance	X	24732451	24732451	Human	1	name , trait , alternate_id
401946592	CV2831638	single nucleotide variant	NM_001330360.2(POLA1):c.2018G>A (p.Arg673Gln)	X-linked reticulate pigmentary disorder [RCV003445303]\|not provided [RCV003778491]	uncertain significance	X	24737719	24737719	Human	1	name
402502714	CV2869402	single nucleotide variant	NM_001330360.2(POLA1):c.2884A>T (p.Met962Leu)	Inborn genetic diseases [RCV004953308]\|not provided [RCV003546073]	uncertain significance	X	24748912	24748912	Human	1	name
405196872	CV2869727	single nucleotide variant	NM_001330360.2(POLA1):c.1534C>G (p.Leu512Val)	not provided [RCV003550932]	uncertain significance	X	24727784	24727784	Human		name
402492776	CV2877964	single nucleotide variant	NM_001330360.2(POLA1):c.2210T>C (p.Met737Thr)	not provided [RCV003545108]	uncertain significance	X	24739544	24739544	Human		name
405187627	CV2917722	single nucleotide variant	NM_001330360.2(POLA1):c.1345A>C (p.Ile449Leu)	not provided [RCV003564582]	uncertain significance	X	24726008	24726008	Human		name
405127948	CV2957198	single nucleotide variant	NM_001330360.2(POLA1):c.1577C>T (p.Ala526Val)	not provided [RCV003672140]	benign	X	24727827	24727827	Human		name
405135172	CV2961194	single nucleotide variant	NM_001330360.2(POLA1):c.2519G>A (p.Arg840His)	not provided [RCV003672586]	uncertain significance	X	24743282	24743282	Human		name
405198615	CV2973016	single nucleotide variant	NM_001330360.2(POLA1):c.2657A>G (p.Gln886Arg)	not provided [RCV003677890]	uncertain significance	X	24745508	24745508	Human		name
405227810	CV2980544	single nucleotide variant	NM_001330360.2(POLA1):c.2030C>G (p.Pro677Arg)	not provided [RCV003711007]	uncertain significance	X	24737731	24737731	Human		name
402509162	CV2994575	single nucleotide variant	NM_001330360.2(POLA1):c.1808C>T (p.Ala603Val)	not provided [RCV003689380]\|not specified [RCV005240861]	uncertain significance	X	24733791	24733791	Human		name
402488590	CV2995591	single nucleotide variant	NM_001330360.2(POLA1):c.1138G>A (p.Val380Met)	not provided [RCV003687309]	uncertain significance	X	24723205	24723205	Human		name
405254993	CV3000093	single nucleotide variant	NM_001330360.2(POLA1):c.1483A>G (p.Met495Val)	not provided [RCV003723261]	uncertain significance	X	24727023	24727023	Human		name
402520930	CV3000402	single nucleotide variant	NM_001330360.2(POLA1):c.1301T>G (p.Met434Arg)	not provided [RCV003716424]	uncertain significance	X	24724435	24724435	Human		name
405154938	CV3028044	single nucleotide variant	NM_001330360.2(POLA1):c.1649T>C (p.Met550Thr)	not provided [RCV003703549]	uncertain significance	X	24727899	24727899	Human		name
405183662	CV3032010	single nucleotide variant	NM_001330360.2(POLA1):c.1982A>G (p.Lys661Arg)	not provided [RCV003705795]	benign	X	24737683	24737683	Human		name
405198985	CV3041011	single nucleotide variant	NM_001330360.2(POLA1):c.2773G>A (p.Val925Ile)	not provided [RCV003707255]	uncertain significance	X	24748392	24748392	Human		name
405144309	CV3056073	single nucleotide variant	NM_001330360.2(POLA1):c.2137C>A (p.His713Asn)	not provided [RCV003725810]	likely benign	X	24739471	24739471	Human		name
405037885	CV3067639	single nucleotide variant	NM_001330360.2(POLA1):c.2375A>G (p.Glu792Gly)	Inborn genetic diseases [RCV004953467]\|not provided [RCV003739679]	uncertain significance	X	24742030	24742030	Human	1	name
405030885	CV3077331	single nucleotide variant	NM_001330360.2(POLA1):c.2275T>G (p.Leu759Val)	not provided [RCV003739081]	uncertain significance	X	24741433	24741433	Human		name
405212973	CV3078129	single nucleotide variant	NM_001330360.2(POLA1):c.2510A>G (p.Lys837Arg)	Inborn genetic diseases [RCV004953499]\|not provided [RCV003732265]	benign\|likely benign	X	24743273	24743273	Human	1	name
404984087	CV3121678	single nucleotide variant	NM_001330360.2(POLA1):c.1918A>G (p.Ile640Val)	not provided [RCV003826477]	benign	X	24735483	24735483	Human		name
405173075	CV3122897	single nucleotide variant	NM_001330360.2(POLA1):c.2765G>A (p.Arg922Gln)	not provided [RCV003819295]	uncertain significance	X	24748384	24748384	Human		name
405224887	CV3145957	single nucleotide variant	NM_001330360.2(POLA1):c.1192C>T (p.Arg398Cys)	not provided [RCV003847671]	benign	X	24723259	24723259	Human		name
405190742	CV3149682	single nucleotide variant	NM_001330360.2(POLA1):c.2281A>C (p.Ile761Leu)	not provided [RCV003843408]	uncertain significance	X	24741439	24741439	Human		name
405167703	CV3153714	single nucleotide variant	NM_001330360.2(POLA1):c.2201T>C (p.Ile734Thr)	not provided [RCV003841259]	uncertain significance	X	24739535	24739535	Human		name
405268733	CV3199064	single nucleotide variant	NM_001330360.2(POLA1):c.2235A>T (p.Leu745Phe)	POLA1-related disorder [RCV003912169]	uncertain significance	X	24741393	24741393	Human		name , trait , alternate_id
405658749	CV3373313	single nucleotide variant	NM_001330360.2(POLA1):c.1661A>G (p.Gln554Arg)	Inborn genetic diseases [RCV004512174]\|not provided [RCV005104833]	uncertain significance	X	24727911	24727911	Human	1	name
405658754	CV3373314	single nucleotide variant	NM_001330360.2(POLA1):c.2679G>T (p.Gln893His)	Inborn genetic diseases [RCV004512175]	uncertain significance	X	24745530	24745530	Human	1	name
405658757	CV3373315	single nucleotide variant	NM_001330360.2(POLA1):c.2680A>G (p.Lys894Glu)	Inborn genetic diseases [RCV004512176]	uncertain significance	X	24745531	24745531	Human	1	name
407425180	CV3409393	single nucleotide variant	NM_001330360.2(POLA1):c.2252C>T (p.Thr751Ile)	not provided [RCV004585324]	likely benign	X	24741410	24741410	Human		name
408381559	CV3501961	single nucleotide variant	NM_001330360.2(POLA1):c.2332G>A (p.Ala778Thr)	not provided [RCV004729489]	uncertain significance	X	24741490	24741490	Human		name
408369986	CV3502947	single nucleotide variant	NM_001330360.2(POLA1):c.1292A>T (p.Tyr431Phe)	not provided [RCV004724068]	uncertain significance	X	24724426	24724426	Human		name
408389961	CV3524848	single nucleotide variant	NM_001330360.2(POLA1):c.2689G>A (p.Glu897Lys)	not provided [RCV004769743]	uncertain significance	X	24745540	24745540	Human		name
408383947	CV3526848	single nucleotide variant	NM_001330360.2(POLA1):c.2905T>C (p.Ser969Pro)	not provided [RCV004772161]	uncertain significance	X	24748933	24748933	Human		name
408393399	CV3528458	single nucleotide variant	NM_001330360.2(POLA1):c.1484T>A (p.Met495Lys)	not provided [RCV004776226]	uncertain significance	X	24727024	24727024	Human		name
597650804	CV3551947	single nucleotide variant	NM_001330360.2(POLA1):c.1522A>C (p.Lys508Gln)	not provided [RCV004820660]	uncertain significance	X	24727062	24727062	Human		name
597692371	CV3590878	single nucleotide variant	NM_001330360.2(POLA1):c.1894G>A (p.Val632Ile)	Inborn genetic diseases [RCV004954334]	uncertain significance	X	24735459	24735459	Human	1	name
597692381	CV3590880	single nucleotide variant	NM_001330360.2(POLA1):c.1717A>G (p.Ser573Gly)	Inborn genetic diseases [RCV004954335]	uncertain significance	X	24732400	24732400	Human	1	name
597656286	CV3731560	single nucleotide variant	NM_001330360.2(POLA1):c.1965G>C (p.Gln655His)	not provided [RCV005001741]	uncertain significance	X	24737666	24737666	Human		name
597833966	CV3735721	single nucleotide variant	NM_001330360.2(POLA1):c.2288G>A (p.Cys763Tyr)	not provided [RCV005063584]	uncertain significance	X	24741446	24741446	Human		name
597887568	CV3741984	single nucleotide variant	NM_001330360.2(POLA1):c.1042C>T (p.His348Tyr)	not provided [RCV005070704]	uncertain significance	X	24717713	24717713	Human		name
597929305	CV3749239	single nucleotide variant	NM_001330360.2(POLA1):c.2105C>T (p.Ser702Leu)	not provided [RCV005075695]	uncertain significance	X	24739439	24739439	Human		name
597890651	CV3762902	single nucleotide variant	NM_001330360.2(POLA1):c.2203C>A (p.Gln735Lys)	not provided [RCV005110675]	uncertain significance	X	24739537	24739537	Human		name
597944243	CV3776541	single nucleotide variant	NM_001330360.2(POLA1):c.1714C>T (p.His572Tyr)	not provided [RCV005119397]	uncertain significance	X	24732397	24732397	Human		name
597926506	CV3783318	single nucleotide variant	NM_001330360.2(POLA1):c.1855G>A (p.Ala619Thr)	not provided [RCV005116004]	uncertain significance	X	24735420	24735420	Human		name
597942613	CV3786264	single nucleotide variant	NM_001330360.2(POLA1):c.1120G>C (p.Glu374Gln)	not provided [RCV005133955]	uncertain significance	X	24723187	24723187	Human		name
597963247	CV3791894	single nucleotide variant	NM_001330360.2(POLA1):c.2221T>G (p.Ser741Ala)	not provided [RCV005139450]	uncertain significance	X	24741379	24741379	Human		name
597955952	CV3792290	single nucleotide variant	NM_001330360.2(POLA1):c.2326A>G (p.Asn776Asp)	not provided [RCV005137177]	uncertain significance	X	24741484	24741484	Human		name
597919658	CV3811679	single nucleotide variant	NM_001330360.2(POLA1):c.2501A>G (p.Asn834Ser)	not provided [RCV005155510]	uncertain significance	X	24743264	24743264	Human		name
597875852	CV3813149	single nucleotide variant	NM_001330360.2(POLA1):c.2489A>G (p.Asp830Gly)	not provided [RCV005149085]	uncertain significance	X	24743252	24743252	Human		name
597951948	CV3815669	single nucleotide variant	NM_001330360.2(POLA1):c.2202A>G (p.Ile734Met)	not provided [RCV005161422]	uncertain significance	X	24739536	24739536	Human		name
597864649	CV3823195	single nucleotide variant	NM_001330360.2(POLA1):c.2220A>T (p.Glu740Asp)	not provided [RCV005175545]	uncertain significance	X	24741378	24741378	Human		name
597967438	CV3824241	single nucleotide variant	NM_001330360.2(POLA1):c.1943T>G (p.Phe648Cys)	not provided [RCV005165464]	uncertain significance	X	24737644	24737644	Human		name
597964550	CV3830539	single nucleotide variant	NM_001330360.2(POLA1):c.1849G>T (p.Val617Phe)	not provided [RCV005164679]	uncertain significance	X	24735414	24735414	Human		name
597940267	CV3836645	single nucleotide variant	NM_001330360.2(POLA1):c.1289A>T (p.Lys430Ile)	Inborn genetic diseases [RCV005392993]\|not provided [RCV005187666]\|not specified [RCV005241124]	uncertain significance	X	24724423	24724423	Human	1	name
597907116	CV3842950	single nucleotide variant	NM_001330360.2(POLA1):c.2581T>A (p.Phe861Ile)	not provided [RCV005182258]	uncertain significance	X	24745432	24745432	Human		name
597953269	CV3843944	single nucleotide variant	NM_001330360.2(POLA1):c.2028G>A (p.Met676Ile)	not provided [RCV005190806]	uncertain significance	X	24737729	24737729	Human		name
597905758	CV3846601	single nucleotide variant	NM_001330360.2(POLA1):c.2120T>C (p.Ile707Thr)	not provided [RCV005182028]	uncertain significance	X	24739454	24739454	Human		name
597906919	CV3853501	single nucleotide variant	NM_001330360.2(POLA1):c.1625C>G (p.Pro542Arg)	not provided [RCV005202980]	uncertain significance	X	24727875	24727875	Human		name
598198255	CV4000421	single nucleotide variant	NM_001330360.2(POLA1):c.1924G>A (p.Gly642Ser)	Inborn genetic diseases [RCV005397984]	uncertain significance	X	24737625	24737625	Human	1	name
598198266	CV4000423	single nucleotide variant	NM_001330360.2(POLA1):c.2848A>G (p.Ile950Val)	Inborn genetic diseases [RCV005397986]	uncertain significance	X	24748876	24748876	Human	1	name
617154118	CV4022281	single nucleotide variant	NM_001330360.2(POLA1):c.2879A>G (p.Asn960Ser)	not provided [RCV005429637]	uncertain significance	X	24748907	24748907	Human		name
617154580	CV4022303	single nucleotide variant	NM_001330360.2(POLA1):c.1765T>C (p.Phe589Leu)	not provided [RCV005429659]	uncertain significance	X	24732448	24732448	Human		name
15201903	CV729552	single nucleotide variant	NM_001330360.2(POLA1):c.1021G>T (p.Ala341Ser)	Inborn genetic diseases [RCV002540101]\|not provided [RCV000891326]	benign\|likely benign	X	24717692	24717692	Human	1	name
21075023	CV798812	single nucleotide variant	NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn)	X-linked intellectual disability, van Esch type [RCV000995840]	likely pathogenic	X	24724341	24724341	Human	1	name
126738496	CV1018975	single nucleotide variant	NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser)	X-linked intellectual disability, van Esch type [RCV001328971]\|not provided [RCV001760424]	uncertain significance	X	24810760	24810760	Human	1	name
126770981	CV1035459	single nucleotide variant	NM_001330360.2(POLA1):c.4025G>A (p.Arg1342His)	Inborn genetic diseases [RCV002547019]\|POLA1-related disorder [RCV003963231]\|not provided [RCV001344780]	benign\|likely benign\|uncertain significance	X	24843655	24843655	Human	2	name , trait , alternate_id
126921799	CV1052387	single nucleotide variant	NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val)	POLA1-related disorder [RCV003898346]\|X-linked reticulate pigmentary disorder [RCV002488118]\|not provided [RCV001363916]	likely benign\|uncertain significance	X	24843585	24843585	Human	2	name , trait , alternate_id
150468422	CV1241904	single nucleotide variant	NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala)	X-linked intellectual disability, van Esch type [RCV001650506]\|not provided [RCV002538532]	uncertain significance	X	24810756	24810756	Human	1	name
150550074	CV1300039	single nucleotide variant	NM_001330360.2(POLA1):c.4346G>C (p.Arg1449Pro)	not provided [RCV001765509]	uncertain significance	X	24995889	24995889	Human		name
151759888	CV1340747	single nucleotide variant	NM_001330360.2(POLA1):c.3211G>A (p.Asp1071Asn)	not provided [RCV001913856]	uncertain significance	X	24812778	24812778	Human		name
151861497	CV1353737	single nucleotide variant	NM_001330360.2(POLA1):c.3416T>A (p.Phe1139Tyr)	not provided [RCV001959280]	uncertain significance	X	24815098	24815098	Human		name
151808306	CV1365464	single nucleotide variant	NM_001330360.2(POLA1):c.4079G>A (p.Arg1360His)	Inborn genetic diseases [RCV004040538]\|not provided [RCV001899702]	benign\|likely benign\|uncertain significance	X	24888037	24888037	Human	1	name
151712828	CV1371102	single nucleotide variant	NM_001330360.2(POLA1):c.3857A>G (p.Lys1286Arg)	Inborn genetic diseases [RCV003247104]\|not provided [RCV001908352]	benign\|likely benign\|uncertain significance	X	24841772	24841772	Human	1	name
151804401	CV1371804	single nucleotide variant	NM_001330360.2(POLA1):c.4078C>T (p.Arg1360Cys)	not provided [RCV001953224]	uncertain significance	X	24888036	24888036	Human		name
151709237	CV1375793	single nucleotide variant	NM_001330360.2(POLA1):c.4180C>G (p.Leu1394Val)	not provided [RCV001963948]	uncertain significance	X	24930468	24930468	Human		name
151874085	CV1382393	single nucleotide variant	NM_001330360.2(POLA1):c.3746C>T (p.Pro1249Leu)	Inborn genetic diseases [RCV002642026]\|not provided [RCV002019317]	benign\|likely benign\|uncertain significance	X	24841661	24841661	Human	1	name
151879977	CV1388361	single nucleotide variant	NM_001330360.2(POLA1):c.4351G>A (p.Gly1451Ser)	Inborn genetic diseases [RCV003170086]\|not provided [RCV001982393]	benign\|likely benign\|uncertain significance	X	24995894	24995894	Human	1	name
151711663	CV1396472	single nucleotide variant	NM_001330360.2(POLA1):c.3999C>A (p.Ser1333Arg)	Inborn genetic diseases [RCV004039133]\|not provided [RCV001889514]	likely benign\|uncertain significance	X	24843629	24843629	Human	1	name
151892970	CV1411724	single nucleotide variant	NM_001330360.2(POLA1):c.3607C>G (p.Gln1203Glu)	not provided [RCV001944653]	uncertain significance	X	24826472	24826472	Human		name
151821917	CV1412569	single nucleotide variant	NM_001330360.2(POLA1):c.3599C>T (p.Ala1200Val)	not provided [RCV001919660]	uncertain significance	X	24826464	24826464	Human		name
151800135	CV1417596	single nucleotide variant	NM_001330360.2(POLA1):c.3802G>A (p.Gly1268Ser)	Inborn genetic diseases [RCV004956120]\|not provided [RCV002047905]	likely benign\|uncertain significance	X	24841717	24841717	Human	1	name
151831020	CV1426553	single nucleotide variant	NM_001330360.2(POLA1):c.3472C>G (p.Leu1158Val)	Inborn genetic diseases [RCV004042389]\|not provided [RCV001976653]	benign\|likely benign\|uncertain significance	X	24821494	24821494	Human	1	name
151763451	CV1433972	single nucleotide variant	NM_001330360.2(POLA1):c.4374C>G (p.Ser1458Arg)	not provided [RCV002024640]	uncertain significance	X	24995917	24995917	Human		name
151846206	CV1434583	single nucleotide variant	NM_001330360.2(POLA1):c.3209C>T (p.Ser1070Leu)	not provided [RCV001922148]	uncertain significance	X	24812776	24812776	Human		name
151848069	CV1439792	single nucleotide variant	NM_001330360.2(POLA1):c.4082A>G (p.Asn1361Ser)	not provided [RCV002016206]	uncertain significance	X	24888040	24888040	Human		name
151864729	CV1443049	single nucleotide variant	NM_001330360.2(POLA1):c.3568T>G (p.Ser1190Ala)	not provided [RCV002034911]	uncertain significance	X	24826433	24826433	Human		name
151804854	CV1444227	single nucleotide variant	NM_001330360.2(POLA1):c.3332G>A (p.Arg1111Gln)	not provided [RCV001932645]	uncertain significance	X	24815014	24815014	Human		name
151797595	CV1446708	single nucleotide variant	NM_001330360.2(POLA1):c.3206C>T (p.Thr1069Met)	Inborn genetic diseases [RCV004656847]\|not provided [RCV002027788]	likely benign\|uncertain significance	X	24812773	24812773	Human	1	name
151832709	CV1456046	single nucleotide variant	NM_001330360.2(POLA1):c.3370G>C (p.Glu1124Gln)	not provided [RCV002050880]	uncertain significance	X	24815052	24815052	Human		name
151814167	CV1460498	single nucleotide variant	NM_001330360.2(POLA1):c.3821C>G (p.Thr1274Ser)	not provided [RCV001878571]	uncertain significance	X	24841736	24841736	Human		name
151806167	CV1462516	single nucleotide variant	NM_001330360.2(POLA1):c.3457C>G (p.Pro1153Ala)	not provided [RCV001991393]	uncertain significance	X	24821479	24821479	Human		name
151807790	CV1462792	single nucleotide variant	NM_001330360.2(POLA1):c.3044A>G (p.Asn1015Ser)	not provided [RCV001991535]	benign\|uncertain significance	X	24810754	24810754	Human		name
151735167	CV1465709	single nucleotide variant	NM_001330360.2(POLA1):c.3667C>T (p.His1223Tyr)	not provided [RCV002041626]\|not specified [RCV002246552]	uncertain significance	X	24826532	24826532	Human		name
151809057	CV1476349	single nucleotide variant	NM_001330360.2(POLA1):c.3369A>G (p.Ile1123Met)	not provided [RCV001899767]	uncertain significance	X	24815051	24815051	Human		name
151829594	CV1480195	single nucleotide variant	NM_001330360.2(POLA1):c.3596A>G (p.Tyr1199Cys)	not provided [RCV001901673]	uncertain significance	X	24826461	24826461	Human		name
151770107	CV1483029	single nucleotide variant	NM_001330360.2(POLA1):c.3343G>A (p.Val1115Met)	not provided [RCV001914901]	uncertain significance	X	24815025	24815025	Human		name
151740599	CV1490595	single nucleotide variant	NM_001330360.2(POLA1):c.3910G>A (p.Gly1304Ser)	not provided [RCV001985205]	uncertain significance	X	24841825	24841825	Human		name
151720692	CV1496896	single nucleotide variant	NM_001330360.2(POLA1):c.3001A>C (p.Asn1001His)	not provided [RCV001909677]	uncertain significance	X	24810711	24810711	Human		name
151760628	CV1497274	single nucleotide variant	NM_001330360.2(POLA1):c.4289C>G (p.Pro1430Arg)	not provided [RCV001987227]	uncertain significance	X	24995832	24995832	Human		name
151795038	CV1514779	single nucleotide variant	NM_001330360.2(POLA1):c.3914C>T (p.Ser1305Leu)	not provided [RCV002011048]	uncertain significance	X	24841829	24841829	Human		name
152117763	CV1534715	single nucleotide variant	NM_001330360.2(POLA1):c.3901G>A (p.Val1301Ile)	not provided [RCV002153866]	benign	X	24841816	24841816	Human		name
152075189	CV1544845	single nucleotide variant	NM_001330360.2(POLA1):c.3721A>G (p.Ile1241Val)	not provided [RCV002169818]	benign	X	24826586	24826586	Human		name
152041895	CV1669930	single nucleotide variant	NM_001330360.2(POLA1):c.3782A>C (p.Glu1261Ala)	not provided [RCV002224832]	uncertain significance	X	24841697	24841697	Human		name
153345981	CV1690900	single nucleotide variant	NM_001330360.2(POLA1):c.3289A>G (p.Thr1097Ala)	not specified [RCV002271800]	uncertain significance	X	24812856	24812856	Human		name
155266083	CV1704950	single nucleotide variant	NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)	X-linked intellectual disability, van Esch type [RCV002285248]	uncertain significance	X	24995856	24995856	Human	1	name
155643852	CV1708162	single nucleotide variant	NM_001330360.2(POLA1):c.3212A>G (p.Asp1071Gly)	X-linked intellectual disability, van Esch type [RCV002290150]\|not provided [RCV003669264]	uncertain significance	X	24812779	24812779	Human	1	name
155749408	CV1773686	single nucleotide variant	NM_001330360.2(POLA1):c.3064G>A (p.Glu1022Lys)	not provided [RCV002304618]	uncertain significance	X	24810774	24810774	Human		name
155691324	CV1778005	single nucleotide variant	NM_001330360.2(POLA1):c.3936C>A (p.Ser1312Arg)	not provided [RCV002299319]	uncertain significance	X	24843566	24843566	Human		name
155796668	CV1862969	single nucleotide variant	NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)	X-linked intellectual disability, van Esch type [RCV002470243]	uncertain significance	X	24843580	24843580	Human	1	name
156407102	CV1874839	single nucleotide variant	NM_001330360.2(POLA1):c.4205G>A (p.Arg1402Gln)	not provided [RCV003070730]	benign	X	24930493	24930493	Human		name
156194172	CV1889411	single nucleotide variant	NM_001330360.2(POLA1):c.3632C>A (p.Thr1211Asn)	not provided [RCV003083976]	uncertain significance	X	24826497	24826497	Human		name
155957453	CV1911799	single nucleotide variant	NM_001330360.2(POLA1):c.3496T>C (p.Trp1166Arg)	Inborn genetic diseases [RCV002616554]\|not provided [RCV002628230]	uncertain significance	X	24821518	24821518	Human	1	name
155962015	CV1936581	single nucleotide variant	NM_001330360.2(POLA1):c.3517A>G (p.Arg1173Gly)	not provided [RCV002512400]	uncertain significance	X	24821539	24821539	Human		name
155979639	CV1972345	single nucleotide variant	NM_001330360.2(POLA1):c.4271A>G (p.Lys1424Arg)	not provided [RCV002617540]	uncertain significance	X	24995814	24995814	Human		name
155986063	CV1979594	single nucleotide variant	NM_001330360.2(POLA1):c.3004C>G (p.Leu1002Val)	not provided [RCV002617810]	uncertain significance	X	24810714	24810714	Human		name
156087841	CV1989580	single nucleotide variant	NM_001330360.2(POLA1):c.3727A>G (p.Thr1243Ala)	Inborn genetic diseases [RCV002639114]\|not provided [RCV002657884]	uncertain significance	X	24826592	24826592	Human	1	name
156085864	CV1993204	single nucleotide variant	NM_001330360.2(POLA1):c.3766C>T (p.His1256Tyr)	not provided [RCV002639051]	uncertain significance	X	24841681	24841681	Human		name
156341249	CV1998188	single nucleotide variant	NM_001330360.2(POLA1):c.4082A>T (p.Asn1361Ile)	not provided [RCV002650328]	uncertain significance	X	24888040	24888040	Human		name
156332188	CV2000646	single nucleotide variant	NM_001330360.2(POLA1):c.3783A>C (p.Glu1261Asp)	not provided [RCV002649880]\|not specified [RCV005419483]	uncertain significance	X	24841698	24841698	Human		name
156349877	CV2008655	single nucleotide variant	NM_001330360.2(POLA1):c.3943C>T (p.Arg1315Cys)	Inborn genetic diseases [RCV003308233]\|not provided [RCV002720105]	uncertain significance	X	24843573	24843573	Human	1	name
156016380	CV2010329	single nucleotide variant	NM_001330360.2(POLA1):c.3748A>G (p.Thr1250Ala)	Inborn genetic diseases [RCV002710606]\|not provided [RCV002735163]	uncertain significance	X	24841663	24841663	Human	1	name
156093470	CV2012659	single nucleotide variant	NM_001330360.2(POLA1):c.3623A>G (p.Asp1208Gly)	Inborn genetic diseases [RCV004067667]\|not provided [RCV002706399]	uncertain significance	X	24826488	24826488	Human	1	name
155933677	CV2035231	single nucleotide variant	NM_001330360.2(POLA1):c.4040A>G (p.Tyr1347Cys)	not provided [RCV002751302]	uncertain significance	X	24843670	24843670	Human		name
155943659	CV2039408	single nucleotide variant	NM_001330360.2(POLA1):c.3091G>A (p.Val1031Ile)	not provided [RCV002775357]	uncertain significance	X	24812658	24812658	Human		name
155955396	CV2040098	single nucleotide variant	NM_001330360.2(POLA1):c.3053G>A (p.Ser1018Asn)	not provided [RCV002775993]	likely benign	X	24810763	24810763	Human		name
155999315	CV2122769	single nucleotide variant	NM_001330360.2(POLA1):c.3523G>T (p.Val1175Leu)	not provided [RCV002975106]	uncertain significance	X	24821545	24821545	Human		name
155938148	CV2125869	single nucleotide variant	NM_001330360.2(POLA1):c.4338C>A (p.Phe1446Leu)	not provided [RCV002971095]	uncertain significance	X	24995881	24995881	Human		name
156304868	CV2129705	single nucleotide variant	NM_001330360.2(POLA1):c.3877G>A (p.Gly1293Arg)	not provided [RCV002962316]	uncertain significance	X	24841792	24841792	Human		name
155963285	CV2134603	single nucleotide variant	NM_001330360.2(POLA1):c.3728C>T (p.Thr1243Met)	not provided [RCV002972490]	uncertain significance	X	24826593	24826593	Human		name
155968532	CV2152372	single nucleotide variant	NM_001330360.2(POLA1):c.4360G>A (p.Glu1454Lys)	not provided [RCV003015821]	benign	X	24995903	24995903	Human		name
156370497	CV2171106	single nucleotide variant	NM_001330360.2(POLA1):c.4253A>G (p.His1418Arg)	not provided [RCV003032187]	uncertain significance	X	24930541	24930541	Human		name
156342189	CV2174995	single nucleotide variant	NM_001330360.2(POLA1):c.3218A>G (p.Asn1073Ser)	not provided [RCV003047798]	uncertain significance	X	24812785	24812785	Human		name
156340633	CV2186814	single nucleotide variant	NM_001330360.2(POLA1):c.3080T>C (p.Leu1027Ser)	not provided [RCV003064211]	uncertain significance	X	24810790	24810790	Human		name
155917588	CV2236599	single nucleotide variant	NM_001330360.2(POLA1):c.3765T>A (p.His1255Gln)	Inborn genetic diseases [RCV002772523]	uncertain significance	X	24841680	24841680	Human	1	name
156440037	CV2401721	single nucleotide variant	NM_001330360.2(POLA1):c.4187C>T (p.Thr1396Ile)	not provided [RCV003110009]	uncertain significance	X	24930475	24930475	Human		name
243051660	CV2404038	single nucleotide variant	NM_001330360.2(POLA1):c.3767A>C (p.His1256Pro)	not provided [RCV003129079]	uncertain significance	X	24841682	24841682	Human		name
243051131	CV2415667	single nucleotide variant	NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)	X-linked reticulate pigmentary disorder [RCV003148269]	uncertain significance	X	24841721	24841721	Human	1	name
243050598	CV2417364	single nucleotide variant	NM_001330360.2(POLA1):c.3230A>T (p.Lys1077Ile)	not provided [RCV003152236]	uncertain significance	X	24812797	24812797	Human		name
243052145	CV2417757	single nucleotide variant	NM_001330360.2(POLA1):c.4001A>G (p.Asn1334Ser)	X-linked intellectual disability, van Esch type [RCV003152821]	uncertain significance	X	24843631	24843631	Human	1	name
329352954	CV2468066	single nucleotide variant	NM_001330360.2(POLA1):c.4265A>T (p.Lys1422Ile)	Inborn genetic diseases [RCV003200881]	uncertain significance	X	24995808	24995808	Human	1	name
401722541	CV2703406	single nucleotide variant	NM_001330360.2(POLA1):c.3145G>A (p.Val1049Ile)	Inborn genetic diseases [RCV003268053]\|not provided [RCV003777063]	benign\|likely benign	X	24812712	24812712	Human	1	name
401778296	CV2718644	single nucleotide variant	NM_001330360.2(POLA1):c.4385C>T (p.Ala1462Val)	Inborn genetic diseases [RCV003263814]	uncertain significance	X	24995928	24995928	Human	1	name
401798724	CV2742542	single nucleotide variant	NM_001330360.2(POLA1):c.4159C>G (p.Pro1387Ala)	not provided [RCV003324986]	uncertain significance	X	24888117	24888117	Human		name
405689866	CV2794334	single nucleotide variant	NM_001330360.2(POLA1):c.3455A>G (p.Tyr1152Cys)	Inherited aplastic anemia [RCV003991549]	likely pathogenic	X	24821477	24821477	Human	1	name
401909345	CV2803649	single nucleotide variant	NM_001330360.2(POLA1):c.3431C>T (p.Ala1144Val)	POLA1-related disorder [RCV003397732]	uncertain significance	X	24821453	24821453	Human		name , trait , alternate_id
401913389	CV2830360	single nucleotide variant	NM_001330360.2(POLA1):c.4183T>C (p.Tyr1395His)	not provided [RCV003441575]	uncertain significance	X	24930471	24930471	Human		name
405869455	CV2831999	single nucleotide variant	NM_001330360.2(POLA1):c.3566G>A (p.Gly1189Glu)	not provided [RCV004573011]	uncertain significance	X	24826431	24826431	Human		name
405219643	CV2870213	single nucleotide variant	NM_001330360.2(POLA1):c.4017C>G (p.Asp1339Glu)	not provided [RCV003553687]	uncertain significance	X	24843647	24843647	Human		name
405217408	CV2873474	single nucleotide variant	NM_001330360.2(POLA1):c.4012A>G (p.Met1338Val)	not provided [RCV003553400]	uncertain significance	X	24843642	24843642	Human		name
405213604	CV2879458	single nucleotide variant	NM_001330360.2(POLA1):c.4262A>G (p.Asp1421Gly)	not provided [RCV003552929]	uncertain significance	X	24995805	24995805	Human		name
405239195	CV2886019	single nucleotide variant	NM_001330360.2(POLA1):c.3590G>C (p.Arg1197Thr)	not provided [RCV003557003]	uncertain significance	X	24826455	24826455	Human		name
405173485	CV2907758	single nucleotide variant	NM_001330360.2(POLA1):c.3268T>C (p.Trp1090Arg)	not provided [RCV003563332]	uncertain significance	X	24812835	24812835	Human		name
405124258	CV2939212	single nucleotide variant	NM_001330360.2(POLA1):c.4357T>G (p.Ser1453Ala)	Inborn genetic diseases [RCV005392653]\|not provided [RCV003671797]	uncertain significance	X	24995900	24995900	Human	1	name
405075998	CV2940654	single nucleotide variant	NM_001330360.2(POLA1):c.3532G>A (p.Gly1178Arg)	not provided [RCV003659623]	uncertain significance	X	24821554	24821554	Human		name
405133294	CV2959340	single nucleotide variant	NM_001330360.2(POLA1):c.3098G>A (p.Ser1033Asn)	not provided [RCV003668571]	uncertain significance	X	24812665	24812665	Human		name
405185319	CV2967555	single nucleotide variant	NM_001330360.2(POLA1):c.4186A>G (p.Thr1396Ala)	not provided [RCV003676600]	uncertain significance	X	24930474	24930474	Human		name
405020741	CV2992674	single nucleotide variant	NM_001330360.2(POLA1):c.4321A>T (p.Asn1441Tyr)	not provided [RCV003694806]	uncertain significance	X	24995864	24995864	Human		name
402480623	CV3000954	single nucleotide variant	NM_001330360.2(POLA1):c.4018A>G (p.Ile1340Val)	not provided [RCV003686566]	uncertain significance	X	24843648	24843648	Human		name
402503123	CV3007072	single nucleotide variant	NM_001330360.2(POLA1):c.3451G>T (p.Asp1151Tyr)	not provided [RCV003688705]	uncertain significance	X	24821473	24821473	Human		name
405004357	CV3016488	single nucleotide variant	NM_001330360.2(POLA1):c.3403C>G (p.Pro1135Ala)	not provided [RCV003693461]	uncertain significance	X	24815085	24815085	Human		name
405152978	CV3031563	single nucleotide variant	NM_001330360.2(POLA1):c.3944G>A (p.Arg1315His)	not provided [RCV003703419]	uncertain significance	X	24843574	24843574	Human		name
405221019	CV3032267	single nucleotide variant	NM_001330360.2(POLA1):c.3932C>T (p.Pro1311Leu)	not provided [RCV003709968]	uncertain significance	X	24843562	24843562	Human		name
405128756	CV3053537	single nucleotide variant	NM_001330360.2(POLA1):c.3739C>T (p.Leu1247Phe)	not provided [RCV003724426]	uncertain significance	X	24841654	24841654	Human		name
405183939	CV3057874	single nucleotide variant	NM_001330360.2(POLA1):c.4384G>A (p.Ala1462Thr)	not provided [RCV003729075]	benign	X	24995927	24995927	Human		name
405091618	CV3122642	single nucleotide variant	NM_001330360.2(POLA1):c.4147G>A (p.Ala1383Thr)	not provided [RCV003811207]	uncertain significance	X	24888105	24888105	Human		name
405183616	CV3127470	single nucleotide variant	NM_001330360.2(POLA1):c.3641C>T (p.Thr1214Ile)	not provided [RCV003820158]	uncertain significance	X	24826506	24826506	Human		name
405208152	CV3145659	single nucleotide variant	NM_001330360.2(POLA1):c.3634A>G (p.Ile1212Val)	not provided [RCV003845389]	uncertain significance	X	24826499	24826499	Human		name
405195698	CV3146537	single nucleotide variant	NM_001330360.2(POLA1):c.4249G>A (p.Asp1417Asn)	Inborn genetic diseases [RCV004953591]\|not provided [RCV003843892]	likely benign\|uncertain significance	X	24930537	24930537	Human	1	name
405188084	CV3149229	single nucleotide variant	NM_001330360.2(POLA1):c.3188C>T (p.Ala1063Val)	not provided [RCV003843155]	likely benign	X	24812755	24812755	Human		name
405184018	CV3155973	single nucleotide variant	NM_001330360.2(POLA1):c.4333C>G (p.Gln1445Glu)	not provided [RCV003859047]	uncertain significance	X	24995876	24995876	Human		name
405236865	CV3169109	single nucleotide variant	NM_001330360.2(POLA1):c.4396G>A (p.Val1466Met)	Inborn genetic diseases [RCV004369548]\|not provided [RCV003866388]	uncertain significance	X	24995939	24995939	Human	1	name
402476245	CV3173770	single nucleotide variant	NM_001330360.2(POLA1):c.3736G>C (p.Gly1246Arg)	POLA1-related disorder [RCV004755028]\|X-linked intellectual disability, van Esch type [RCV004565958]\|not provided [RCV003875308]	uncertain significance	X	24826601	24826601	Human	2	name , trait , alternate_id
405253121	CV3178203	single nucleotide variant	NM_001330360.2(POLA1):c.3926T>C (p.Met1309Thr)	not provided [RCV003870984]	uncertain significance	X	24843556	24843556	Human		name
405274026	CV3194989	single nucleotide variant	NM_001330360.2(POLA1):c.3881C>T (p.Thr1294Ile)	POLA1-related disorder [RCV003902231]	uncertain significance	X	24841796	24841796	Human		name , trait , alternate_id
405276348	CV3206662	single nucleotide variant	NM_001330360.2(POLA1):c.3242A>G (p.Lys1081Arg)	POLA1-related disorder [RCV003917103]	uncertain significance	X	24812809	24812809	Human		name , trait , alternate_id
405658761	CV3373316	single nucleotide variant	NM_001330360.2(POLA1):c.3550G>A (p.Val1184Ile)	Inborn genetic diseases [RCV004512177]	uncertain significance	X	24821572	24821572	Human	1	name
407506451	CV3496145	single nucleotide variant	NM_001330360.2(POLA1):c.3328A>T (p.Ser1110Cys)	not provided [RCV004697985]	uncertain significance	X	24815010	24815010	Human		name
408369686	CV3502840	single nucleotide variant	NM_001330360.2(POLA1):c.3356A>T (p.Gln1119Leu)	not provided [RCV004723961]	uncertain significance	X	24815038	24815038	Human		name
408390430	CV3519296	single nucleotide variant	NM_001330360.2(POLA1):c.3101A>G (p.Glu1034Gly)	not provided [RCV004762605]	uncertain significance	X	24812668	24812668	Human		name
408392758	CV3528247	single nucleotide variant	NM_001330360.2(POLA1):c.3917G>T (p.Gly1306Val)	not provided [RCV004776015]	uncertain significance	X	24843547	24843547	Human		name
596923072	CV3530243	single nucleotide variant	NM_001330360.2(POLA1):c.3100G>A (p.Glu1034Lys)	not provided [RCV004776842]	uncertain significance	X	24812667	24812667	Human		name
596926924	CV3539910	microsatellite	NM_001330360.2(POLA1):c.100AAG[1] (p.Lys35del)	not provided [RCV004790901]	uncertain significance	X	24699481	24699483	Human		name
596938589	CV3549641	single nucleotide variant	NM_001330360.2(POLA1):c.3697A>G (p.Ile1233Val)	not provided [RCV004812681]	uncertain significance	X	24826562	24826562	Human		name
597633101	CV3552947	single nucleotide variant	NM_001330360.2(POLA1):c.3002A>G (p.Asn1001Ser)	not provided [RCV004823777]	uncertain significance	X	24810712	24810712	Human		name
597657136	CV3729736	single nucleotide variant	NM_001330360.2(POLA1):c.4087A>G (p.Thr1363Ala)	X-linked reticulate pigmentary disorder [RCV005041753]	uncertain significance	X	24888045	24888045	Human	1	name
597657773	CV3731715	single nucleotide variant	NM_001330360.2(POLA1):c.3445C>T (p.Pro1149Ser)	not provided [RCV005001896]	uncertain significance	X	24821467	24821467	Human		name
597920731	CV3738113	single nucleotide variant	NM_001330360.2(POLA1):c.3949A>G (p.Ser1317Gly)	not provided [RCV005074712]	uncertain significance	X	24843579	24843579	Human		name
597905654	CV3738685	single nucleotide variant	NM_001330360.2(POLA1):c.3709G>C (p.Asp1237His)	not provided [RCV005072919]	uncertain significance	X	24826574	24826574	Human		name
597867404	CV3739150	single nucleotide variant	NM_001330360.2(POLA1):c.3716T>C (p.Val1239Ala)	not provided [RCV005068217]	uncertain significance	X	24826581	24826581	Human		name
597901908	CV3741432	single nucleotide variant	NM_001330360.2(POLA1):c.4173C>G (p.Asp1391Glu)	not provided [RCV005072403]	uncertain significance	X	24930461	24930461	Human		name
597865165	CV3742286	single nucleotide variant	NM_001330360.2(POLA1):c.3911G>A (p.Gly1304Asp)	not provided [RCV005067902]	uncertain significance	X	24841826	24841826	Human		name
597940343	CV3757222	single nucleotide variant	NM_001330360.2(POLA1):c.4024C>T (p.Arg1342Cys)	not provided [RCV005077407]	uncertain significance	X	24843654	24843654	Human		name
597903959	CV3784434	single nucleotide variant	NM_001330360.2(POLA1):c.3226A>G (p.Thr1076Ala)	not provided [RCV005127486]	uncertain significance	X	24812793	24812793	Human		name
597962968	CV3791541	single nucleotide variant	NM_001330360.2(POLA1):c.4048G>A (p.Gly1350Ser)	not provided [RCV005139295]	uncertain significance	X	24888006	24888006	Human		name
597870093	CV3803572	single nucleotide variant	NM_001330360.2(POLA1):c.3296A>G (p.Asn1099Ser)	not provided [RCV005148170]	uncertain significance	X	24812863	24812863	Human		name
597907058	CV3804140	single nucleotide variant	NM_001330360.2(POLA1):c.3340A>G (p.Ile1114Val)	not provided [RCV005153686]	uncertain significance	X	24815022	24815022	Human		name
597961440	CV3812148	single nucleotide variant	NM_001330360.2(POLA1):c.4052G>C (p.Trp1351Ser)	not provided [RCV005163801]	uncertain significance	X	24888010	24888010	Human		name
597957440	CV3814359	single nucleotide variant	NM_001330360.2(POLA1):c.3838A>G (p.Arg1280Gly)	not provided [RCV005162690]	uncertain significance	X	24841753	24841753	Human		name
597958332	CV3814804	single nucleotide variant	NM_001330360.2(POLA1):c.3635T>C (p.Ile1212Thr)	not provided [RCV005162929]	uncertain significance	X	24826500	24826500	Human		name
597968041	CV3820813	single nucleotide variant	NM_001330360.2(POLA1):c.3077A>G (p.Lys1026Arg)	not provided [RCV005165654]	uncertain significance	X	24810787	24810787	Human		name
597878659	CV3825958	single nucleotide variant	NM_001330360.2(POLA1):c.3323A>T (p.Asp1108Val)	not provided [RCV005177832]	uncertain significance	X	24815005	24815005	Human		name
597908651	CV3829941	single nucleotide variant	NM_001330360.2(POLA1):c.3860G>A (p.Cys1287Tyr)	not provided [RCV005182510]	uncertain significance	X	24841775	24841775	Human		name
597974894	CV3831900	single nucleotide variant	NM_001330360.2(POLA1):c.3092T>C (p.Val1031Ala)	not provided [RCV005168839]	uncertain significance	X	24812659	24812659	Human		name
597959923	CV3843498	single nucleotide variant	NM_001330360.2(POLA1):c.3331C>T (p.Arg1111Trp)	not provided [RCV005192535]	uncertain significance	X	24815013	24815013	Human		name
597961377	CV3844099	single nucleotide variant	NM_001330360.2(POLA1):c.3385G>A (p.Val1129Met)	not provided [RCV005192946]	uncertain significance	X	24815067	24815067	Human		name
597951904	CV3847497	single nucleotide variant	NM_001330360.2(POLA1):c.3335A>G (p.Asp1112Gly)	not provided [RCV005190479]	uncertain significance	X	24815017	24815017	Human		name
598202255	CV3892861	single nucleotide variant	NM_001330360.2(POLA1):c.3719T>C (p.Leu1240Pro)	not provided [RCV005255191]	uncertain significance	X	24826584	24826584	Human		name
598198254	CV4000420	single nucleotide variant	NM_001330360.2(POLA1):c.3688T>A (p.Cys1230Ser)	Inborn genetic diseases [RCV005397983]	uncertain significance	X	24826553	24826553	Human	1	name
598198261	CV4000422	single nucleotide variant	NM_001330360.2(POLA1):c.3122T>G (p.Leu1041Arg)	Inborn genetic diseases [RCV005397985]	uncertain significance	X	24812689	24812689	Human	1	name
617154317	CV4022708	single nucleotide variant	NM_001330360.2(POLA1):c.3236A>C (p.Glu1079Ala)	not provided [RCV005430066]	uncertain significance	X	24812803	24812803	Human		name
13827663	CV578590	single nucleotide variant	NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)	X-linked reticulate pigmentary disorder [RCV000714859]\|not provided [RCV000894499]\|not specified [RCV002249436]	benign\|uncertain significance	X	24826487	24826487	Human	1	name
14689864	CV615989	single nucleotide variant	NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu)	X-linked intellectual disability, van Esch type [RCV000791330]	pathogenic	X	24888118	24888118	Human	1	name
151861629	CV1474047	microsatellite	NM_001330360.2(POLA1):c.413ACA[1] (p.Asn139del)	not provided [RCV001883992]	uncertain significance	X	24714619	24714621	Human		name
597950729	CV3756312	deletion	NM_001330360.2(POLA1):c.1092_1094del (p.Val365del)	not provided [RCV005079369]	uncertain significance	X	24723157	24723159	Human		name
405115606	CV3019430	insertion	NM_001330360.2(POLA1):c.95_96insTGA (p.Lys32delinsAsnGlu)	not provided [RCV003700207]	uncertain significance	X	24699475	24699476	Human		name

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