Pkd1l1 Variant Search Result - Rat Genome Database

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978 records found for search term Pkd1l1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152982120	CV1679083	single nucleotide variant	PKD1L1, ARG2669TER	Heterotaxy, visceral, 8, autosomal [RCV002248436]	pathogenic				Human		name
12738789	CV359122	single nucleotide variant	PKD1L1, CYS1691SER	HETEROTAXY, VISCERAL, 8, AUTOSOMAL [RCV000412500]	pathogenic				Human		name
408376149	CV3512294	single nucleotide variant	NM_138295.5(PKD1L1):c.-6C>T	PKD1L1-related disorder [RCV004748453]	likely benign	7	47948446	47948446	Human		name , trait , alternate_id
151350769	CV1324828	single nucleotide variant	NM_138295.5(PKD1L1):c.-15C>T	Heterotaxy, visceral, 8, autosomal [RCV001809273]	uncertain significance	7	47948455	47948455	Human	1	name
150331968	CV1169247	single nucleotide variant	NM_138295.5(PKD1L1):c.*212C>T	not provided [RCV001536700]	benign	7	47774931	47774931	Human		name
15177339	CV779339	single nucleotide variant	NM_138295.5(PKD1L1):c.44+9T>G	PKD1L1-related disorder [RCV003918527]\|not provided [RCV000973402]	benign	7	47948388	47948388	Human	1	name , trait , alternate_id
150471261	CV1280942	single nucleotide variant	NM_138295.5(PKD1L1):c.161-8T>C	PKD1L1-related disorder [RCV003976071]\|not provided [RCV001713151]	benign	7	47940325	47940325	Human	1	name , trait , alternate_id
405105575	CV3139870	single nucleotide variant	NM_138295.5(PKD1L1):c.399-5T>C	not provided [RCV003835281]	likely benign	7	47932061	47932061	Human		name
402500330	CV3170507	single nucleotide variant	NM_138295.5(PKD1L1):c.520-2A>C	not provided [RCV003877880]	likely pathogenic	7	47931323	47931323	Human		name
405000861	CV3183906	single nucleotide variant	NM_138295.5(PKD1L1):c.398+9A>G	not provided [RCV003882489]	likely benign	7	47936837	47936837	Human		name
405289556	CV3205184	single nucleotide variant	NM_138295.5(PKD1L1):c.737+1G>T	PKD1L1-related disorder [RCV003961780]	likely pathogenic	7	47931103	47931103	Human		name , trait , alternate_id
15172906	CV730500	single nucleotide variant	NM_138295.5(PKD1L1):c.399-6A>G	not provided [RCV000883935]	likely benign	7	47932062	47932062	Human		name
40813773	CV861285	single nucleotide variant	NM_138295.5(PKD1L1):c.160+1G>A	Heterotaxy, visceral, 8, autosomal [RCV003227910]\|Visceral heterotaxy [RCV001260918]	pathogenic	7	47943395	47943395	Human	3	name
126736580	CV1016913	single nucleotide variant	NM_138295.5(PKD1L1):c.7346+2T>C	Heterotaxy, visceral, 8, autosomal [RCV001328571]	pathogenic	7	47813119	47813119	Human		name
126736555	CV1016921	single nucleotide variant	NM_138295.5(PKD1L1):c.1691+2T>G	Heterotaxy, visceral, 8, autosomal [RCV001328565]	pathogenic	7	47905155	47905155	Human		name
126734104	CV1020377	single nucleotide variant	NM_138295.5(PKD1L1):c.4092+1G>C	Heterotaxy, visceral, 8, autosomal [RCV001334509]	pathogenic	7	47866418	47866418	Human		name
150335056	CV1164314	single nucleotide variant	NM_138295.5(PKD1L1):c.6736-3C>T	not provided [RCV001530056]	likely benign	7	47827471	47827471	Human		name
150466603	CV1255767	single nucleotide variant	NM_138295.5(PKD1L1):c.285+74T>G	not provided [RCV001670401]	benign	7	47940119	47940119	Human		name
150494435	CV1267352	single nucleotide variant	NM_138295.5(PKD1L1):c.3785-7C>T	Heterotaxy, visceral, 8, autosomal [RCV001788784]\|PKD1L1-related disorder [RCV003975990]\|not provided [RCV001688380]	benign	7	47874017	47874017	Human	1	name , trait , alternate_id
150467415	CV1269226	single nucleotide variant	NM_138295.5(PKD1L1):c.7347-5T>C	Heterotaxy, visceral, 8, autosomal [RCV001788780]\|not provided [RCV001694634]	benign	7	47812056	47812056	Human	1	name
150536277	CV1302526	single nucleotide variant	NM_138295.5(PKD1L1):c.4363-8T>G	not provided [RCV001761216]	uncertain significance	7	47857840	47857840	Human		name
156282373	CV1896874	single nucleotide variant	NM_138295.5(PKD1L1):c.3785-8C>T	not provided [RCV003087163]	likely benign	7	47874018	47874018	Human		name
156022154	CV2040721	single nucleotide variant	NM_138295.5(PKD1L1):c.520-17G>T	not provided [RCV002795638]	benign	7	47931338	47931338	Human		name
156309170	CV2085879	single nucleotide variant	NM_138295.5(PKD1L1):c.738-19C>T	not provided [RCV002898613]	likely benign	7	47929545	47929545	Human		name
156339353	CV2092484	single nucleotide variant	NM_138295.5(PKD1L1):c.2453+3G>A	not provided [RCV002900387]	benign	7	47893875	47893875	Human		name
156202708	CV2092569	single nucleotide variant	NM_138295.5(PKD1L1):c.6338-3C>T	not provided [RCV002917846]	uncertain significance	7	47831355	47831355	Human		name
156133686	CV2109315	single nucleotide variant	NM_138295.5(PKD1L1):c.2837-2A>G	not provided [RCV002914647]	likely pathogenic	7	47886056	47886056	Human		name
156391930	CV2127250	single nucleotide variant	NM_138295.5(PKD1L1):c.1061-2A>G	not provided [RCV002943990]	likely pathogenic	7	47915601	47915601	Human		name
401919605	CV2794907	single nucleotide variant	NM_138295.5(PKD1L1):c.2453+1G>A	Heterotaxy, visceral, 8, autosomal [RCV003388653]	likely pathogenic	7	47893877	47893877	Human	1	name
401933850	CV2797837	single nucleotide variant	NM_138295.5(PKD1L1):c.7687-2A>G	PKD1L1-related disorder [RCV003410729]	likely pathogenic	7	47808389	47808389	Human		name , trait , alternate_id
401925997	CV2803207	single nucleotide variant	NM_138295.5(PKD1L1):c.5552+1G>A	PKD1L1-related disorder [RCV003405821]	likely pathogenic	7	47840460	47840460	Human		name , trait , alternate_id
402485600	CV2865172	single nucleotide variant	NM_138295.5(PKD1L1):c.5154-5C>T	not provided [RCV003544439]	likely benign	7	47845083	47845083	Human		name
405193908	CV2925553	single nucleotide variant	NM_138295.5(PKD1L1):c.5770-8C>T	PKD1L1-related disorder [RCV003946752]\|not provided [RCV003565124]	likely benign	7	47837102	47837102	Human	1	name , trait , alternate_id
405181850	CV2952585	single nucleotide variant	NM_138295.5(PKD1L1):c.4150-2A>G	not provided [RCV003676352]	likely pathogenic	7	47858887	47858887	Human		name
405181104	CV2956211	single nucleotide variant	NM_138295.5(PKD1L1):c.5154-7C>T	not provided [RCV003676198]	likely benign	7	47845085	47845085	Human		name
404978082	CV3012123	single nucleotide variant	NM_138295.5(PKD1L1):c.286-18T>C	not provided [RCV003690677]	likely benign	7	47936976	47936976	Human		name
405241201	CV3060933	single nucleotide variant	NM_138295.5(PKD1L1):c.6854+9C>T	not provided [RCV003737220]	likely benign	7	47827341	47827341	Human		name
404980514	CV3183328	single nucleotide variant	NM_138295.5(PKD1L1):c.737+11G>A	not provided [RCV003880351]	benign	7	47931093	47931093	Human		name
405263572	CV3189789	single nucleotide variant	NM_138295.5(PKD1L1):c.1402+8G>A	PKD1L1-related disorder [RCV003896838]\|not provided [RCV005101560]	likely benign	7	47908069	47908069	Human	1	name , trait , alternate_id
405264372	CV3189990	single nucleotide variant	NM_138295.5(PKD1L1):c.1061-9C>T	PKD1L1-related disorder [RCV003897034]	likely benign	7	47915608	47915608	Human		name , trait , alternate_id
405264961	CV3190074	single nucleotide variant	NM_138295.5(PKD1L1):c.2064+3A>G	PKD1L1-related disorder [RCV003897113]	likely benign	7	47902376	47902376	Human		name , trait , alternate_id
405260097	CV3190125	single nucleotide variant	NM_138295.5(PKD1L1):c.3663+5G>A	PKD1L1-related disorder [RCV003894528]	uncertain significance	7	47877484	47877484	Human		name , trait , alternate_id
405286557	CV3192827	single nucleotide variant	NM_138295.5(PKD1L1):c.3664-8G>A	PKD1L1-related disorder [RCV003981556]	likely benign	7	47876225	47876225	Human		name , trait , alternate_id
405292683	CV3192958	single nucleotide variant	NM_138295.5(PKD1L1):c.4590+8C>T	PKD1L1-related disorder [RCV003964651]	likely benign	7	47857597	47857597	Human		name , trait , alternate_id
405259419	CV3194779	single nucleotide variant	NM_138295.5(PKD1L1):c.8194-3T>C	PKD1L1-related disorder [RCV003894168]	likely benign	7	47796153	47796153	Human		name , trait , alternate_id
405269840	CV3197978	single nucleotide variant	NM_138295.5(PKD1L1):c.2064+9G>A	PKD1L1-related disorder [RCV003899790]\|not provided [RCV005101598]	likely benign	7	47902370	47902370	Human	1	name , trait , alternate_id
405268567	CV3201020	single nucleotide variant	NM_138295.5(PKD1L1):c.4363-9A>G	PKD1L1-related disorder [RCV003899131]	likely benign	7	47857841	47857841	Human		name , trait , alternate_id
405272132	CV3206376	single nucleotide variant	NM_138295.5(PKD1L1):c.2676-9A>G	PKD1L1-related disorder [RCV003971992]	likely benign	7	47888159	47888159	Human		name , trait , alternate_id
405274687	CV3209016	single nucleotide variant	NM_138295.5(PKD1L1):c.5943+8C>T	PKD1L1-related disorder [RCV003951780]	likely benign	7	47836913	47836913	Human		name , trait , alternate_id
405289544	CV3218276	single nucleotide variant	NM_138295.5(PKD1L1):c.3785-3C>T	PKD1L1-related disorder [RCV003983678]	likely benign	7	47874013	47874013	Human		name , trait , alternate_id
405278880	CV3220452	single nucleotide variant	NM_138295.5(PKD1L1):c.1692-7C>G	PKD1L1-related disorder [RCV003976650]	likely benign	7	47904624	47904624	Human		name , trait , alternate_id
407459643	CV3496855	single nucleotide variant	NM_138295.5(PKD1L1):c.1523-2A>G	Autism [RCV004698670]	uncertain significance	7	47905327	47905327	Human	2	name
408371243	CV3504891	single nucleotide variant	NM_138295.5(PKD1L1):c.6855-4A>T	PKD1L1-related disorder [RCV004724515]	likely benign	7	47821190	47821190	Human		name , trait , alternate_id
408370850	CV3505786	single nucleotide variant	NM_138295.5(PKD1L1):c.6055-4G>T	PKD1L1-related disorder [RCV004724256]	uncertain significance	7	47835043	47835043	Human		name , trait , alternate_id
408375815	CV3506509	single nucleotide variant	NM_138295.5(PKD1L1):c.3265+5C>G	PKD1L1-related disorder [RCV004726336]	likely benign	7	47884593	47884593	Human		name , trait , alternate_id
408375991	CV3511559	duplication	NM_138295.5(PKD1L1):c.7346+5dup	PKD1L1-related disorder [RCV004748363]	uncertain significance	7	47813115	47813116	Human		name , trait , alternate_id
596929223	CV3540871	single nucleotide variant	NM_138295.5(PKD1L1):c.3664-9G>A	not provided [RCV004795200]	uncertain significance	7	47876226	47876226	Human		name
597949553	CV3772366	single nucleotide variant	NM_138295.5(PKD1L1):c.1060+7T>G	not provided [RCV005120685]	likely benign	7	47929197	47929197	Human		name
597863351	CV3822799	single nucleotide variant	NM_138295.5(PKD1L1):c.1229-2A>G	not provided [RCV005175331]	likely pathogenic	7	47908252	47908252	Human		name
597879152	CV3826207	single nucleotide variant	NM_138295.5(PKD1L1):c.7173+8G>A	not provided [RCV005177903]	likely benign	7	47813923	47813923	Human		name
597886492	CV3842353	single nucleotide variant	NM_138295.5(PKD1L1):c.6338-4G>A	not provided [RCV005178988]	likely benign	7	47831356	47831356	Human		name
598202892	CV3896358	single nucleotide variant	NM_138295.5(PKD1L1):c.7173+5G>T	Heterotaxy, visceral, 8, autosomal [RCV005356619]	uncertain significance	7	47813926	47813926	Human	1	name
15151399	CV730496	single nucleotide variant	NM_138295.5(PKD1L1):c.7827+6C>T	Heterotaxy, visceral, 8, autosomal [RCV001262952]\|not provided [RCV000879587]	likely benign\|uncertain significance	7	47808241	47808241	Human	1	name
15156263	CV730497	single nucleotide variant	NM_138295.5(PKD1L1):c.1932-8C>T	not provided [RCV000880591]	likely benign	7	47902519	47902519	Human		name
15172358	CV730498	single nucleotide variant	NM_138295.5(PKD1L1):c.1523-4A>G	not provided [RCV000883825]	benign	7	47905329	47905329	Human		name
15108082	CV730499	single nucleotide variant	NM_138295.5(PKD1L1):c.1402+7C>T	PKD1L1-related disorder [RCV003930847]\|not provided [RCV000893601]	benign	7	47908070	47908070	Human	1	name , trait , alternate_id
15142470	CV744357	single nucleotide variant	NM_138295.5(PKD1L1):c.2837-7G>C	not provided [RCV000899678]	likely benign	7	47886061	47886061	Human		name
15164204	CV744404	single nucleotide variant	NM_138295.5(PKD1L1):c.7828-3C>T	not provided [RCV000903950]	benign	7	47803347	47803347	Human		name
15104980	CV775330	single nucleotide variant	NM_138295.5(PKD1L1):c.4092+9C>T	not provided [RCV000937496]	likely benign	7	47866410	47866410	Human		name
15202951	CV777671	single nucleotide variant	NM_138295.5(PKD1L1):c.2675+4C>T	Heterotaxy, visceral, 8, autosomal [RCV001731993]\|PKD1L1-related disorder [RCV003926078]\|not provided [RCV000958127]\|not specified [RCV001702073]	benign\|likely benign	7	47890538	47890538	Human	1	name , trait , alternate_id
38463338	CV920241	deletion	NM_138295.5(PKD1L1):c.1060+4del	Heterotaxy, visceral, 8, autosomal [RCV001198985]	uncertain significance	7	47929200	47929200	Human	1	name
150332111	CV1163501	single nucleotide variant	NM_138295.5(PKD1L1):c.3443-79T>C	not provided [RCV001528083]	benign	7	47880884	47880884	Human		name
150339040	CV1167416	single nucleotide variant	NM_138295.5(PKD1L1):c.737+207A>G	not provided [RCV001534011]	benign	7	47930897	47930897	Human	1	name
150339040	CV1167416	single nucleotide variant	NM_138295.5(PKD1L1):c.737+207A>G	not provided [RCV001534011]	benign	7	47930897	47930898	Human	1	name
150333366	CV1169248	single nucleotide variant	NM_138295.5(PKD1L1):c.1931+22G>A	Heterotaxy, visceral, 8, autosomal [RCV001788586]\|not provided [RCV001537300]	benign	7	47904356	47904356	Human	1	name
150463792	CV1214836	single nucleotide variant	NM_138295.5(PKD1L1):c.519+185A>G	not provided [RCV001613831]	benign	7	47931751	47931751	Human		name
150464701	CV1215311	single nucleotide variant	NM_138295.5(PKD1L1):c.6337+87A>G	not provided [RCV001614010]	benign	7	47833003	47833003	Human		name
150478364	CV1218774	single nucleotide variant	NM_138295.5(PKD1L1):c.6128-79C>T	not provided [RCV001616401]	benign	7	47834464	47834464	Human		name
150468532	CV1218927	single nucleotide variant	NM_138295.5(PKD1L1):c.4859+10T>C	PKD1L1-related disorder [RCV003980790]\|not provided [RCV001614679]	benign	7	47854872	47854872	Human	1	name , trait , alternate_id
150497340	CV1219390	single nucleotide variant	NM_138295.5(PKD1L1):c.3443-47T>C	not provided [RCV001620059]	benign	7	47880852	47880852	Human		name
150454564	CV1220010	single nucleotide variant	NM_138295.5(PKD1L1):c.5237+38T>C	Heterotaxy, visceral, 8, autosomal [RCV001788624]\|not provided [RCV001612392]	benign	7	47844957	47844957	Human	1	name
150438665	CV1221194	single nucleotide variant	NM_138295.5(PKD1L1):c.2271+98G>T	not provided [RCV001609888]	benign	7	47897890	47897890	Human		name
150435880	CV1221756	single nucleotide variant	NM_138295.5(PKD1L1):c.7827+94C>T	not provided [RCV001609446]	benign	7	47808153	47808153	Human		name
150502417	CV1223208	single nucleotide variant	NM_138295.5(PKD1L1):c.4149+77C>T	not provided [RCV001621142]	benign	7	47865139	47865139	Human		name
150502741	CV1223294	single nucleotide variant	NM_138295.5(PKD1L1):c.3443-80C>A	not provided [RCV001621228]	benign	7	47880885	47880885	Human		name
150503488	CV1223760	single nucleotide variant	NM_138295.5(PKD1L1):c.5770-95T>C	not provided [RCV001621409]	benign	7	47837189	47837189	Human		name
150495323	CV1225049	single nucleotide variant	NM_138295.5(PKD1L1):c.285+238C>T	not provided [RCV001619527]	benign	7	47939955	47939955	Human		name
150514415	CV1228208	duplication	NM_138295.5(PKD1L1):c.4591-90dup	not provided [RCV001638486]	benign	7	47855354	47855355	Human		name
150514739	CV1228615	single nucleotide variant	NM_138295.5(PKD1L1):c.5769+51G>A	not provided [RCV001638603]	benign	7	47839395	47839395	Human		name
150511240	CV1229399	single nucleotide variant	NM_138295.5(PKD1L1):c.286-127C>G	not provided [RCV001637328]	benign	7	47937085	47937085	Human		name
150433162	CV1230428	single nucleotide variant	NM_138295.5(PKD1L1):c.3784+18T>C	Heterotaxy, visceral, 8, autosomal [RCV001788665]\|not provided [RCV001643373]	benign	7	47876079	47876079	Human	1	name
150434164	CV1230720	single nucleotide variant	NM_138295.5(PKD1L1):c.519+207T>G	not provided [RCV001643666]	benign	7	47931729	47931729	Human		name
150442223	CV1233662	single nucleotide variant	NM_138295.5(PKD1L1):c.286-276C>T	not provided [RCV001645350]	benign	7	47937234	47937234	Human		name
150473651	CV1234316	single nucleotide variant	NM_138295.5(PKD1L1):c.7173+31G>A	Heterotaxy, visceral, 8, autosomal [RCV001788676]\|not provided [RCV001651635]	benign	7	47813900	47813900	Human	1	name
150469964	CV1243246	single nucleotide variant	NM_138295.5(PKD1L1):c.3896+85G>A	not provided [RCV001650767]	benign	7	47873814	47873814	Human		name
150509436	CV1247306	single nucleotide variant	NM_138295.5(PKD1L1):c.399-334A>G	not provided [RCV001659333]	benign	7	47932390	47932390	Human		name
150469941	CV1247905	single nucleotide variant	NM_138295.5(PKD1L1):c.2064+60G>A	not provided [RCV001670941]	benign	7	47902319	47902319	Human		name
150456345	CV1249603	single nucleotide variant	NM_138295.5(PKD1L1):c.5237+54C>A	not provided [RCV001668818]	benign	7	47844941	47844941	Human		name
150489310	CV1250531	single nucleotide variant	NM_138295.5(PKD1L1):c.3664-75G>A	not provided [RCV001674494]	benign	7	47876292	47876292	Human		name
150486818	CV1251419	single nucleotide variant	NM_138295.5(PKD1L1):c.6474-29G>A	not provided [RCV001674090]	benign	7	47830153	47830153	Human		name
150476275	CV1251836	single nucleotide variant	NM_138295.5(PKD1L1):c.7963-33A>G	Heterotaxy, visceral, 8, autosomal [RCV001788738]\|not provided [RCV001672035]	benign	7	47800912	47800912	Human	1	name
150460249	CV1253077	single nucleotide variant	NM_138295.5(PKD1L1):c.4961-38C>T	Heterotaxy, visceral, 8, autosomal [RCV001788726]\|not provided [RCV001669406]	benign	7	47847109	47847109	Human	1	name
150461905	CV1253300	single nucleotide variant	NM_138295.5(PKD1L1):c.4150-78G>A	not provided [RCV001669629]	benign	7	47858963	47858963	Human		name
150499084	CV1254301	single nucleotide variant	NM_138295.5(PKD1L1):c.4591-92A>T	not provided [RCV001676475]	benign	7	47855357	47855357	Human		name
150505705	CV1255541	single nucleotide variant	NM_138295.5(PKD1L1):c.3785-68G>A	not provided [RCV001677988]	benign	7	47874078	47874078	Human		name
150471329	CV1259093	duplication	NM_138295.5(PKD1L1):c.4362+46dup	Heterotaxy, visceral, 8, autosomal [RCV001788762]\|not provided [RCV001684338]	benign	7	47858624	47858625	Human	1	name
150447194	CV1261491	single nucleotide variant	NM_138295.5(PKD1L1):c.6128-82C>T	not provided [RCV001680165]	benign	7	47834467	47834467	Human		name
150485058	CV1262015	single nucleotide variant	NM_138295.5(PKD1L1):c.3520+28C>G	Heterotaxy, visceral, 8, autosomal [RCV001788767]\|not provided [RCV001686706]	benign	7	47880700	47880700	Human	1	name
150473362	CV1262890	single nucleotide variant	NM_138295.5(PKD1L1):c.399-195C>T	not provided [RCV001684706]	benign	7	47932251	47932251	Human		name
150462382	CV1264728	single nucleotide variant	NM_138295.5(PKD1L1):c.2064+70T>G	not provided [RCV001682352]	benign	7	47902309	47902309	Human		name
150493118	CV1267081	single nucleotide variant	NM_138295.5(PKD1L1):c.3784+44C>G	Heterotaxy, visceral, 8, autosomal [RCV001788783]\|not provided [RCV001688108]	benign	7	47876053	47876053	Human	1	name
150494898	CV1267431	single nucleotide variant	NM_138295.5(PKD1L1):c.2453+28G>A	not provided [RCV001688459]	benign	7	47893850	47893850	Human		name
150490913	CV1267691	single nucleotide variant	NM_138295.5(PKD1L1):c.3896+38A>G	Heterotaxy, visceral, 8, autosomal [RCV001788777]\|not provided [RCV001687715]	benign	7	47873861	47873861	Human	1	name
150467114	CV1268887	single nucleotide variant	NM_138295.5(PKD1L1):c.8194-66C>T	not provided [RCV001694584]	benign	7	47796216	47796216	Human		name
150455521	CV1268946	single nucleotide variant	NM_138295.5(PKD1L1):c.399-213G>A	not provided [RCV001692770]	benign	7	47932269	47932269	Human		name
150470437	CV1269844	single nucleotide variant	NM_138295.5(PKD1L1):c.398+156T>C	not provided [RCV001695131]	benign	7	47936690	47936690	Human		name
150464411	CV1273305	single nucleotide variant	NM_138295.5(PKD1L1):c.1229-16A>G	Heterotaxy, visceral, 8, autosomal [RCV001788800]\|PKD1L1-related disorder [RCV004749723]\|not provided [RCV001694062]	benign	7	47908266	47908266	Human	1	name , trait , alternate_id
150464110	CV1276328	single nucleotide variant	NM_138295.5(PKD1L1):c.5237+54C>T	not provided [RCV001710273]	benign	7	47844941	47844941	Human		name
150467590	CV1277596	single nucleotide variant	NM_138295.5(PKD1L1):c.3663+92A>G	not provided [RCV001710891]	benign	7	47877397	47877397	Human		name
150476834	CV1279337	deletion	NM_138295.5(PKD1L1):c.6855-13del	not provided [RCV001714046]	benign	7	47821199	47821199	Human		name
150512188	CV1284885	single nucleotide variant	NM_138295.5(PKD1L1):c.3443-96T>C	not provided [RCV001721754]	benign	7	47880901	47880901	Human		name
150512314	CV1284912	single nucleotide variant	NM_138295.5(PKD1L1):c.160+200T>C	not provided [RCV001721781]	benign	7	47943196	47943196	Human		name
156335274	CV1954396	single nucleotide variant	NM_138295.5(PKD1L1):c.5943+20C>T	not provided [RCV002580216]	benign	7	47836901	47836901	Human		name
156408944	CV1954581	single nucleotide variant	NM_138295.5(PKD1L1):c.5769+17T>C	not provided [RCV002586661]	likely benign	7	47839429	47839429	Human		name
156233870	CV1956137	single nucleotide variant	NM_138295.5(PKD1L1):c.1932-19G>A	not provided [RCV002575977]	likely benign	7	47902530	47902530	Human		name
156281920	CV1964417	single nucleotide variant	NM_138295.5(PKD1L1):c.6473+13G>A	not provided [RCV002577506]	benign	7	47831204	47831204	Human		name
155925177	CV1987746	single nucleotide variant	NM_138295.5(PKD1L1):c.5770-17C>T	not provided [RCV002614735]	likely benign	7	47837111	47837111	Human		name
155956861	CV2040190	single nucleotide variant	NM_138295.5(PKD1L1):c.1931+17C>T	not provided [RCV002776062]	likely benign	7	47904361	47904361	Human		name
156242430	CV2043817	single nucleotide variant	NM_138295.5(PKD1L1):c.2836+13A>G	not provided [RCV002805724]	benign	7	47887977	47887977	Human		name
156038443	CV2047783	single nucleotide variant	NM_138295.5(PKD1L1):c.2453+11C>A	not provided [RCV002781400]	benign	7	47893867	47893867	Human		name
156253501	CV2098146	single nucleotide variant	NM_138295.5(PKD1L1):c.5237+10A>T	PKD1L1-related disorder [RCV003936328]\|not provided [RCV002895341]	benign\|likely benign	7	47844985	47844985	Human	1	name , trait , alternate_id
405216245	CV2911225	single nucleotide variant	NM_138295.5(PKD1L1):c.2272-18C>G	not provided [RCV003567760]	likely benign	7	47894077	47894077	Human		name
402470505	CV2931382	single nucleotide variant	NM_138295.5(PKD1L1):c.6735+11T>G	not provided [RCV003570312]	likely benign	7	47829414	47829414	Human		name
405161281	CV2950231	single nucleotide variant	NM_138295.5(PKD1L1):c.6054+17C>T	not provided [RCV003674620]	likely benign	7	47835116	47835116	Human		name
405152462	CV2950471	single nucleotide variant	NM_138295.5(PKD1L1):c.7090-17C>T	not provided [RCV003670128]	likely benign	7	47814031	47814031	Human		name
405016110	CV2995387	single nucleotide variant	NM_138295.5(PKD1L1):c.7090-13T>C	not provided [RCV003694411]	likely benign	7	47814027	47814027	Human		name
405218929	CV3049135	single nucleotide variant	NM_138295.5(PKD1L1):c.6854+10G>A	PKD1L1-related disorder [RCV003901320]\|not provided [RCV003732961]	likely benign	7	47827340	47827340	Human	1	name , trait , alternate_id
405135291	CV3115600	single nucleotide variant	NM_138295.5(PKD1L1):c.1229-20G>A	not provided [RCV003816257]	likely benign	7	47908270	47908270	Human		name
405085262	CV3122009	deletion	NM_138295.5(PKD1L1):c.1403-11del	not provided [RCV003810764]	benign	7	47905973	47905973	Human		name
405190972	CV3149592	single nucleotide variant	NM_138295.5(PKD1L1):c.3897-18C>G	not provided [RCV003843318]	likely benign	7	47866632	47866632	Human		name
405042653	CV3154056	single nucleotide variant	NM_138295.5(PKD1L1):c.3266-15G>C	not provided [RCV003848924]	likely benign	7	47882100	47882100	Human		name
405084872	CV3167187	single nucleotide variant	NM_138295.5(PKD1L1):c.1229-19T>C	not provided [RCV003851768]	likely benign	7	47908269	47908269	Human		name
404988331	CV3179821	single nucleotide variant	NM_138295.5(PKD1L1):c.2676-19G>C	not provided [RCV003881298]	benign	7	47888169	47888169	Human		name
404990359	CV3179978	single nucleotide variant	NM_138295.5(PKD1L1):c.5944-11C>G	not provided [RCV003881456]	benign	7	47835254	47835254	Human		name
404985639	CV3183731	single nucleotide variant	NM_138295.5(PKD1L1):c.1522+20C>A	not provided [RCV003881008]	benign	7	47905823	47905823	Human		name
405260150	CV3190185	single nucleotide variant	NM_138295.5(PKD1L1):c.7687-10G>C	PKD1L1-related disorder [RCV003894587]	likely benign	7	47808397	47808397	Human		name , trait , alternate_id
405265958	CV3215773	single nucleotide variant	NM_138295.5(PKD1L1):c.6175-10G>A	PKD1L1-related disorder [RCV003946929]	likely benign	7	47833262	47833262	Human		name , trait , alternate_id
408376598	CV3514777	single nucleotide variant	NM_138295.5(PKD1L1):c.3442+10T>C	PKD1L1-related disorder [RCV004749272]	likely benign	7	47881899	47881899	Human		name , trait , alternate_id
12738810	CV359121	deletion	PKD1L1, 2-BP DEL, NT6473, TG, +2	HETEROTAXY, VISCERAL, 8, AUTOSOMAL [RCV000412637]	pathogenic				Human		name
597852716	CV3737670	single nucleotide variant	NM_138295.5(PKD1L1):c.3443-15A>C	not provided [RCV005066443]	likely benign	7	47880820	47880820	Human		name
597888523	CV3739271	single nucleotide variant	NM_138295.5(PKD1L1):c.5553-15T>C	not provided [RCV005070818]	likely benign	7	47839677	47839677	Human		name
597896683	CV3740428	single nucleotide variant	NM_138295.5(PKD1L1):c.6338-12A>G	not provided [RCV005071781]	likely benign	7	47831364	47831364	Human		name
597850122	CV3746772	single nucleotide variant	NM_138295.5(PKD1L1):c.6854+20G>A	not provided [RCV005066169]	likely benign	7	47827330	47827330	Human		name
597940417	CV3757235	single nucleotide variant	NM_138295.5(PKD1L1):c.6558+18T>C	not provided [RCV005077420]	likely benign	7	47830022	47830022	Human		name
597922371	CV3781783	single nucleotide variant	NM_138295.5(PKD1L1):c.5154-15G>T	not provided [RCV005130455]	likely benign	7	47845093	47845093	Human		name
597953452	CV3808853	single nucleotide variant	NM_138295.5(PKD1L1):c.7686+17C>A	not provided [RCV005161771]	likely benign	7	47809456	47809456	Human		name
597915866	CV3814646	single nucleotide variant	NM_138295.5(PKD1L1):c.4961-17A>C	not provided [RCV005154961]	likely benign	7	47847088	47847088	Human		name
597929800	CV3826876	single nucleotide variant	NM_138295.5(PKD1L1):c.4150-19A>G	not provided [RCV005156889]	likely benign	7	47858904	47858904	Human		name
597845389	CV3827616	single nucleotide variant	NM_138295.5(PKD1L1):c.5770-14G>C	not provided [RCV005172887]	likely benign	7	47837108	47837108	Human		name
15121449	CV759595	single nucleotide variant	NM_138295.5(PKD1L1):c.5153+10C>A	not provided [RCV000918486]	likely benign	7	47846869	47846869	Human		name
38463334	CV920240	single nucleotide variant	NM_138295.5(PKD1L1):c.2454-18C>G	Heterotaxy, visceral, 8, autosomal [RCV001198984]\|not provided [RCV005057082]	likely benign\|uncertain significance	7	47890781	47890781	Human	1	name
150339969	CV1168126	single nucleotide variant	NM_138295.5(PKD1L1):c.2271+219G>A	not provided [RCV001534808]	benign	7	47897769	47897769	Human		name
150340259	CV1168127	single nucleotide variant	NM_138295.5(PKD1L1):c.1931+106C>T	not provided [RCV001535169]	benign	7	47904272	47904272	Human		name
150331454	CV1171737	single nucleotide variant	NM_138295.5(PKD1L1):c.5237+117A>G	not provided [RCV001538638]	benign	7	47844878	47844878	Human		name
150337608	CV1171740	single nucleotide variant	NM_138295.5(PKD1L1):c.3520+101C>G	not provided [RCV001541757]	benign	7	47880627	47880627	Human		name
150334979	CV1171741	single nucleotide variant	NM_138295.5(PKD1L1):c.1228+257G>A	not provided [RCV001540339]	benign	7	47915175	47915175	Human		name
150514118	CV1210868	deletion	NM_138295.5(PKD1L1):c.6174+190del	not provided [RCV001598910]	benign	7	47834149	47834149	Human		name
150506275	CV1213738	single nucleotide variant	NM_138295.5(PKD1L1):c.7686+236T>A	not provided [RCV001595995]	benign	7	47809237	47809237	Human		name
150462096	CV1214596	single nucleotide variant	NM_138295.5(PKD1L1):c.1403-251G>A	not provided [RCV001613589]	benign	7	47906213	47906213	Human		name
150463461	CV1214789	single nucleotide variant	NM_138295.5(PKD1L1):c.3520+157A>G	not provided [RCV001613784]	benign	7	47880571	47880571	Human		name
150448044	CV1216208	single nucleotide variant	NM_138295.5(PKD1L1):c.7827+166C>T	not provided [RCV001611506]	benign	7	47808081	47808081	Human		name
150448057	CV1216210	single nucleotide variant	NM_138295.5(PKD1L1):c.3784+152A>C	not provided [RCV001611508]	benign	7	47875945	47875945	Human		name
150472181	CV1217138	single nucleotide variant	NM_138295.5(PKD1L1):c.6736-284T>C	not provided [RCV001615433]	benign	7	47827752	47827752	Human		name
150465130	CV1217967	single nucleotide variant	NM_138295.5(PKD1L1):c.3663+127C>A	not provided [RCV001614092]	benign	7	47877362	47877362	Human		name
150469998	CV1219167	single nucleotide variant	NM_138295.5(PKD1L1):c.2454-174G>T	not provided [RCV001614919]	benign	7	47890937	47890937	Human		name
150436964	CV1220643	deletion	NM_138295.5(PKD1L1):c.2453+119del	not provided [RCV001609627]	benign	7	47893759	47893759	Human		name
150437097	CV1220667	single nucleotide variant	NM_138295.5(PKD1L1):c.3664-334T>G	not provided [RCV001609651]	benign	7	47876551	47876551	Human		name
150437200	CV1220683	single nucleotide variant	NM_138295.5(PKD1L1):c.3897-155G>A	not provided [RCV001609668]	benign	7	47866769	47866769	Human		name
150437301	CV1220699	single nucleotide variant	NM_138295.5(PKD1L1):c.7173+132C>T	not provided [RCV001609684]	benign	7	47813799	47813799	Human		name
150437389	CV1220713	single nucleotide variant	NM_138295.5(PKD1L1):c.3520+155A>G	not provided [RCV001609698]	benign	7	47880573	47880573	Human		name
150452253	CV1220975	single nucleotide variant	NM_138295.5(PKD1L1):c.3897-123T>C	not provided [RCV001612069]	benign	7	47866737	47866737	Human		name
150484308	CV1222463	single nucleotide variant	NM_138295.5(PKD1L1):c.6337+205G>A	not provided [RCV001617466]	benign	7	47832885	47832885	Human		name
150484384	CV1222480	single nucleotide variant	NM_138295.5(PKD1L1):c.8527-165A>G	not provided [RCV001617483]	benign	7	47775331	47775331	Human		name
150502841	CV1223320	single nucleotide variant	NM_138295.5(PKD1L1):c.6174+126C>T	not provided [RCV001621254]	benign	7	47834213	47834213	Human		name
150499217	CV1224552	single nucleotide variant	NM_138295.5(PKD1L1):c.3520+148G>T	not provided [RCV001620383]	benign	7	47880580	47880580	Human		name
150499993	CV1224699	single nucleotide variant	NM_138295.5(PKD1L1):c.3663+292C>T	not provided [RCV001620531]	benign	7	47877197	47877197	Human		name
150494534	CV1224916	single nucleotide variant	NM_138295.5(PKD1L1):c.3784+265A>T	not provided [RCV001619394]	benign	7	47875832	47875832	Human		name
150494161	CV1226104	single nucleotide variant	NM_138295.5(PKD1L1):c.4150-114A>G	not provided [RCV001619323]	benign	7	47858999	47858999	Human		name
150517485	CV1226935	single nucleotide variant	NM_138295.5(PKD1L1):c.7089+265G>C	not provided [RCV001640031]	benign	7	47815069	47815069	Human		name
150517028	CV1227765	single nucleotide variant	NM_138295.5(PKD1L1):c.3442+225C>G	not provided [RCV001639568]	benign	7	47881684	47881684	Human		name
150514073	CV1228041	single nucleotide variant	NM_138295.5(PKD1L1):c.3521-266A>G	not provided [RCV001638319]	benign	7	47877897	47877897	Human		name
150434395	CV1230777	duplication	NM_138295.5(PKD1L1):c.7347-273dup	not provided [RCV001643724]	benign	7	47812323	47812324	Human		name
150430575	CV1230947	single nucleotide variant	NM_138295.5(PKD1L1):c.8193+146C>T	not provided [RCV001641496]	benign	7	47800503	47800503	Human		name
150430267	CV1232089	single nucleotide variant	NM_138295.5(PKD1L1):c.6965+164G>A	not provided [RCV001641351]	benign	7	47820912	47820912	Human		name
150454210	CV1232231	single nucleotide variant	NM_138295.5(PKD1L1):c.8193+163G>A	not provided [RCV001648244]	benign	7	47800486	47800486	Human		name
150443155	CV1232537	single nucleotide variant	NM_138295.5(PKD1L1):c.6966-182C>G	not provided [RCV001645505]	benign	7	47815639	47815639	Human		name
150445701	CV1233223	deletion	NM_138295.5(PKD1L1):c.3896+249del	not provided [RCV001645896]	benign	7	47873650	47873650	Human		name
150431546	CV1235482	single nucleotide variant	NM_138295.5(PKD1L1):c.7963-212G>T	not provided [RCV001641852]	benign	7	47801091	47801091	Human		name
150498402	CV1235560	single nucleotide variant	NM_138295.5(PKD1L1):c.3784+297C>T	not provided [RCV001656243]	benign	7	47875800	47875800	Human		name
150456083	CV1236837	single nucleotide variant	NM_138295.5(PKD1L1):c.3443-180C>G	not provided [RCV001648573]	benign	7	47880985	47880985	Human		name
150481301	CV1238478	single nucleotide variant	NM_138295.5(PKD1L1):c.3663+317G>A	not provided [RCV001652919]	benign	7	47877172	47877172	Human		name
150490670	CV1239155	single nucleotide variant	NM_138295.5(PKD1L1):c.3663+137T>A	not provided [RCV001654723]	benign	7	47877352	47877352	Human		name
150430603	CV1243389	single nucleotide variant	NM_138295.5(PKD1L1):c.3266-115G>T	not provided [RCV001663006]	benign	7	47882200	47882200	Human		name
150431516	CV1243722	single nucleotide variant	NM_138295.5(PKD1L1):c.4092+168T>G	not provided [RCV001663342]	benign	7	47866251	47866251	Human		name
150481711	CV1244150	single nucleotide variant	NM_138295.5(PKD1L1):c.4960+282T>G	not provided [RCV001652996]	benign	7	47852845	47852845	Human		name
150438471	CV1247176	single nucleotide variant	NM_138295.5(PKD1L1):c.4093-174A>G	not provided [RCV001665945]	benign	7	47865446	47865446	Human		name
150457406	CV1248779	deletion	NM_138295.5(PKD1L1):c.2271+134del	not provided [RCV001668955]	benign	7	47897854	47897854	Human		name
150484570	CV1250052	single nucleotide variant	NM_138295.5(PKD1L1):c.4590+319C>T	not provided [RCV001673665]	benign	7	47857286	47857286	Human		name
150477712	CV1252055	single nucleotide variant	NM_138295.5(PKD1L1):c.3520+244C>T	not provided [RCV001672255]	benign	7	47880484	47880484	Human		name
150467169	CV1255861	single nucleotide variant	NM_138295.5(PKD1L1):c.3664-102T>C	not provided [RCV001670495]	benign	7	47876319	47876319	Human		name
150501646	CV1256352	single nucleotide variant	NM_138295.5(PKD1L1):c.7173+116T>C	not provided [RCV001676976]	benign	7	47813815	47813815	Human		name
150507465	CV1256940	single nucleotide variant	NM_138295.5(PKD1L1):c.4860-305A>C	not provided [RCV001678443]	benign	7	47853532	47853532	Human		name
150493771	CV1257623	single nucleotide variant	NM_138295.5(PKD1L1):c.1402+248T>A	not provided [RCV001675296]	benign	7	47907829	47907829	Human		name
150480317	CV1258411	single nucleotide variant	NM_138295.5(PKD1L1):c.3785-236A>G	not provided [RCV001685830]	benign	7	47874246	47874246	Human		name
150444472	CV1258524	single nucleotide variant	NM_138295.5(PKD1L1):c.3785-129T>C	not provided [RCV001679722]	benign	7	47874139	47874139	Human		name
150471502	CV1259128	single nucleotide variant	NM_138295.5(PKD1L1):c.4150-268G>A	not provided [RCV001684373]	benign	7	47859153	47859153	Human		name
150452760	CV1260436	single nucleotide variant	NM_138295.5(PKD1L1):c.7687-133G>C	not provided [RCV001680926]	benign	7	47808520	47808520	Human		name
150453692	CV1260553	single nucleotide variant	NM_138295.5(PKD1L1):c.3896+223C>T	not provided [RCV001681045]	benign	7	47873676	47873676	Human		name
150448825	CV1260740	single nucleotide variant	NM_138295.5(PKD1L1):c.7686+203G>A	not provided [RCV001680409]	benign	7	47809270	47809270	Human		name
150446818	CV1261419	single nucleotide variant	NM_138295.5(PKD1L1):c.5446-238G>A	not provided [RCV001680093]	benign	7	47840805	47840805	Human		name
150448181	CV1261933	single nucleotide variant	NM_138295.5(PKD1L1):c.5769+137C>A	not provided [RCV001680318]	benign	7	47839309	47839309	Human		name
150483928	CV1263073	single nucleotide variant	NM_138295.5(PKD1L1):c.2836+185C>G	not provided [RCV001686473]	benign	7	47887805	47887805	Human		name
150460322	CV1264156	single nucleotide variant	NM_138295.5(PKD1L1):c.2065-206T>G	not provided [RCV001682072]	benign	7	47898400	47898400	Human		name
150442427	CV1264431	single nucleotide variant	NM_138295.5(PKD1L1):c.2453+243G>A	not provided [RCV001679414]	benign	7	47893635	47893635	Human		name
150488979	CV1265334	single nucleotide variant	NM_138295.5(PKD1L1):c.4150-251C>T	not provided [RCV001687370]	benign	7	47859136	47859136	Human		name
150455352	CV1266169	single nucleotide variant	NM_138295.5(PKD1L1):c.4860-150A>T	not provided [RCV001692746]	benign	7	47853377	47853377	Human		name
150455971	CV1269012	single nucleotide variant	NM_138295.5(PKD1L1):c.5154-153G>T	not provided [RCV001692836]	benign	7	47845231	47845231	Human		name
150445405	CV1269429	single nucleotide variant	NM_138295.5(PKD1L1):c.2064+262G>A	not provided [RCV001691117]	benign	7	47902117	47902117	Human		name
150471167	CV1270019	single nucleotide variant	NM_138295.5(PKD1L1):c.4093-254C>G	not provided [RCV001695307]	benign	7	47865526	47865526	Human		name
150435905	CV1270879	deletion	NM_138295.5(PKD1L1):c.3896+227del	not provided [RCV001689429]	benign	7	47873672	47873672	Human		name
150445744	CV1271759	single nucleotide variant	NM_138295.5(PKD1L1):c.3896+224C>T	not provided [RCV001691173]	benign	7	47873675	47873675	Human		name
150495315	CV1272606	single nucleotide variant	NM_138295.5(PKD1L1):c.6854+312A>C	not provided [RCV001688529]	benign	7	47827038	47827038	Human		name
150462300	CV1272991	single nucleotide variant	NM_138295.5(PKD1L1):c.3266-141G>A	not provided [RCV001693748]	benign	7	47882226	47882226	Human		name
150449998	CV1273709	single nucleotide variant	NM_138295.5(PKD1L1):c.4093-251C>T	not provided [RCV001691809]	benign	7	47865523	47865523	Human		name
150484636	CV1273854	single nucleotide variant	NM_138295.5(PKD1L1):c.5445+254C>T	not provided [RCV001698539]	benign	7	47842708	47842708	Human		name
150464632	CV1276438	single nucleotide variant	NM_138295.5(PKD1L1):c.6337+120A>G	not provided [RCV001710384]	benign	7	47832970	47832970	Human		name
150445068	CV1278091	single nucleotide variant	NM_138295.5(PKD1L1):c.7347-263C>T	not provided [RCV001707234]	benign	7	47812314	47812314	Human		name
150481023	CV1279643	single nucleotide variant	NM_138295.5(PKD1L1):c.4859+154T>C	not provided [RCV001714763]	benign	7	47854728	47854728	Human		name
150511940	CV1284822	single nucleotide variant	NM_138295.5(PKD1L1):c.3266-156G>C	not provided [RCV001721691]	benign	7	47882241	47882241	Human		name
150512303	CV1284910	single nucleotide variant	NM_138295.5(PKD1L1):c.3521-223G>A	not provided [RCV001721779]	benign	7	47877854	47877854	Human		name
150437814	CV1286607	single nucleotide variant	NM_138295.5(PKD1L1):c.6174+240A>G	not provided [RCV001724686]	benign	7	47834099	47834099	Human		name
150437821	CV1286608	single nucleotide variant	NM_138295.5(PKD1L1):c.3206-199C>T	not provided [RCV001724687]	benign	7	47884856	47884856	Human		name
150442569	CV1287745	single nucleotide variant	NM_138295.5(PKD1L1):c.2272-195G>C	not provided [RCV001725466]	benign	7	47894254	47894254	Human		name
126734113	CV1020373	single nucleotide variant	NM_138295.5(PKD1L1):c.6966-2568C>T	Heterotaxy, visceral, 8, autosomal [RCV001334512]	pathogenic	7	47818025	47818025	Human		name
405261715	CV3219927	duplication	NM_138295.5(PKD1L1):c.161-8_161-7dup	PKD1L1-related disorder [RCV003967093]	likely benign	7	47940323	47940324	Human		name , trait , alternate_id
150473082	CV1235167	microsatellite	NM_138295.5(PKD1L1):c.3266-221GGGA[7]	not provided [RCV001651536]	benign	7	47882282	47882283	Human		name
150467486	CV1269238	microsatellite	NM_138295.5(PKD1L1):c.3266-221GGGA[4]	not provided [RCV001694646]	benign	7	47882283	47882290	Human		name
156116590	CV2113881	deletion	NM_138295.5(PKD1L1):c.4150-32_4212del	not provided [RCV002913993]	likely pathogenic	7	47858823	47858917	Human		name
11541252	CV236891	deletion	NM_138295.5(PKD1L1):c.6473+2_6473+3del	Heterotaxy, visceral, 8, autosomal [RCV000412637]\|Inborn genetic diseases [RCV005396738]\|PKD1L1-related disorder [RCV003401160]\|Situs inversus [RCV000240819]	pathogenic\|likely pathogenic	7	47831214	47831215	Human	4	name , trait , alternate_id
405184915	CV2967646	single nucleotide variant	NM_138295.5(PKD1L1):c.57T>G (p.Ala19=)	not provided [RCV003676653]	likely benign	7	47943499	47943499	Human		name
405152549	CV2888474	single nucleotide variant	NM_138295.5(PKD1L1):c.264C>A (p.Ser88=)	not provided [RCV003561729]	likely benign	7	47940214	47940214	Human		name
405264985	CV3201395	single nucleotide variant	NM_138295.5(PKD1L1):c.159C>T (p.Val53=)	PKD1L1-related disorder [RCV003897153]	likely benign	7	47943397	47943397	Human		name , trait , alternate_id
405285330	CV3212319	single nucleotide variant	NM_138295.5(PKD1L1):c.264C>T (p.Ser88=)	PKD1L1-related disorder [RCV003958937]	likely benign	7	47940214	47940214	Human		name , trait , alternate_id
150435324	CV1221616	single nucleotide variant	NM_138295.5(PKD1L1):c.426C>T (p.Ile142=)	PKD1L1-related disorder [RCV003980784]\|not provided [RCV001609304]	benign	7	47932029	47932029	Human	1	name , trait , alternate_id
150456015	CV1259953	single nucleotide variant	NM_138295.5(PKD1L1):c.477T>C (p.Cys159=)	PKD1L1-related disorder [RCV003975938]\|not provided [RCV001681432]	benign	7	47931978	47931978	Human	1	name , trait , alternate_id
152155727	CV1668416	single nucleotide variant	NM_138295.5(PKD1L1):c.52C>T (p.Gln18Ter)	not provided [RCV002222317]	pathogenic	7	47943504	47943504	Human		name
155932276	CV2096145	single nucleotide variant	NM_138295.5(PKD1L1):c.489C>G (p.Thr163=)	not provided [RCV002903896]	benign	7	47931966	47931966	Human		name
401902382	CV2801841	single nucleotide variant	NM_138295.5(PKD1L1):c.603G>A (p.Ala201=)	PKD1L1-related disorder [RCV003418865]\|not provided [RCV003427926]	likely benign\|uncertain significance	7	47931238	47931238	Human	1	name , trait , alternate_id
401922464	CV2828462	single nucleotide variant	NM_138295.5(PKD1L1):c.801T>C (p.Ser267=)	not provided [RCV003433807]	likely benign	7	47929463	47929463	Human		name
405184006	CV3040165	single nucleotide variant	NM_138295.5(PKD1L1):c.642G>A (p.Thr214=)	not provided [RCV003705832]	likely benign	7	47931199	47931199	Human		name
405251317	CV3049914	single nucleotide variant	NM_138295.5(PKD1L1):c.369G>A (p.Ala123=)	not provided [RCV003721870]	likely benign	7	47936875	47936875	Human		name
405212578	CV3127521	single nucleotide variant	NM_138295.5(PKD1L1):c.366G>A (p.Gln122=)	PKD1L1-related disorder [RCV003956588]\|not provided [RCV003823569]	likely benign	7	47936878	47936878	Human	1	name , trait , alternate_id
405276545	CV3198522	single nucleotide variant	NM_138295.5(PKD1L1):c.753G>A (p.Pro251=)	PKD1L1-related disorder [RCV003903854]	likely benign	7	47929511	47929511	Human		name , trait , alternate_id
405279463	CV3206864	single nucleotide variant	NM_138295.5(PKD1L1):c.702G>A (p.Leu234=)	PKD1L1-related disorder [RCV003919426]	likely benign	7	47931139	47931139	Human		name , trait , alternate_id
405293144	CV3207234	single nucleotide variant	NM_138295.5(PKD1L1):c.708G>A (p.Pro236=)	PKD1L1-related disorder [RCV003931632]\|not provided [RCV005101742]	likely benign	7	47931133	47931133	Human	1	name , trait , alternate_id
405272575	CV3221869	single nucleotide variant	NM_138295.5(PKD1L1):c.618G>T (p.Thr206=)	PKD1L1-related disorder [RCV003972189]\|not provided [RCV005426299]	likely benign	7	47931223	47931223	Human	1	name , trait , alternate_id
408377191	CV3507274	single nucleotide variant	NM_138295.5(PKD1L1):c.468G>A (p.Arg156=)	PKD1L1-related disorder [RCV004750511]	likely benign	7	47931987	47931987	Human		name , trait , alternate_id
408376642	CV3515111	single nucleotide variant	NM_138295.5(PKD1L1):c.981G>A (p.Gly327=)	PKD1L1-related disorder [RCV004749315]	likely benign	7	47929283	47929283	Human		name , trait , alternate_id
597830914	CV3743647	deletion	NM_138295.5(PKD1L1):c.6174+14_6174+16del	not provided [RCV005062464]	likely benign	7	47834323	47834325	Human		name
15151299	CV711029	single nucleotide variant	NM_138295.5(PKD1L1):c.933T>C (p.Arg311=)	Heterotaxy, visceral, 8, autosomal [RCV003754901]\|not provided [RCV000968110]	benign	7	47929331	47929331	Human	1	name
15167459	CV736165	single nucleotide variant	NM_138295.5(PKD1L1):c.528C>T (p.Gly176=)	PKD1L1-related disorder [RCV003958202]\|not provided [RCV000904658]	benign\|likely benign	7	47931313	47931313	Human	1	name , trait , alternate_id
15168625	CV750673	single nucleotide variant	NM_138295.5(PKD1L1):c.687C>T (p.Ser229=)	not provided [RCV000927331]	likely benign	7	47931154	47931154	Human		name
8632592	CV87800	single nucleotide variant	NM_138295.5(PKD1L1):c.978C>T (p.Phe326=)	PKD1L1-related disorder [RCV003954827]	likely benign\|not provided	7	47929286	47929286	Human		name , trait , alternate_id
126920712	CV1044968	single nucleotide variant	NM_138295.5(PKD1L1):c.1389A>G (p.Gln463=)	not provided [RCV001363040]	uncertain significance	7	47908090	47908090	Human		name
152155732	CV1668417	duplication	NM_138295.5(PKD1L1):c.411dup (p.Pro138fs)	not provided [RCV002222318]	pathogenic	7	47932043	47932044	Human		name
153349750	CV1693914	single nucleotide variant	NM_138295.5(PKD1L1):c.2982C>T (p.Pro994=)	PKD1L1-related disorder [RCV003943340]\|not provided [RCV002276168]	likely benign	7	47885909	47885909	Human	1	name , trait , alternate_id
156188681	CV1933983	single nucleotide variant	NM_138295.5(PKD1L1):c.2013C>T (p.Cys671=)	not provided [RCV002625289]	likely benign	7	47902430	47902430	Human		name
156435863	CV1937255	single nucleotide variant	NM_138295.5(PKD1L1):c.2604G>A (p.Arg868=)	not provided [RCV003105059]	likely benign	7	47890613	47890613	Human		name
156330887	CV2094792	single nucleotide variant	NM_138295.5(PKD1L1):c.2880C>T (p.Leu960=)	PKD1L1-related disorder [RCV003916568]\|not provided [RCV002899917]	benign	7	47886011	47886011	Human	1	name , trait , alternate_id
156330932	CV2094795	single nucleotide variant	NM_138295.5(PKD1L1):c.2538T>A (p.Ala846=)	PKD1L1-related disorder [RCV003916571]\|not provided [RCV002899919]	benign	7	47890679	47890679	Human	1	name , trait , alternate_id
156244385	CV2101602	single nucleotide variant	NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)	Heterotaxy, visceral, 8, autosomal [RCV003754997]\|not provided [RCV002895027]	benign	7	47890550	47890550	Human	1	name
156094636	CV2102845	single nucleotide variant	NM_138295.5(PKD1L1):c.2535G>A (p.Ala845=)	not provided [RCV002913168]	benign	7	47890682	47890682	Human		name
156222622	CV2124442	single nucleotide variant	NM_138295.5(PKD1L1):c.2508C>T (p.Ser836=)	not provided [RCV002958204]	likely benign	7	47890709	47890709	Human		name
156373455	CV2127732	single nucleotide variant	NM_138295.5(PKD1L1):c.2514T>G (p.Thr838=)	PKD1L1-related disorder [RCV003943616]\|not provided [RCV002942516]	likely benign	7	47890703	47890703	Human	1	name , trait , alternate_id
156392405	CV2386286	single nucleotide variant	NM_138295.5(PKD1L1):c.245G>A (p.Arg82Gln)	Inborn genetic diseases [RCV002725069]	uncertain significance	7	47940233	47940233	Human	1	name
243059577	CV2406184	single nucleotide variant	NM_138295.5(PKD1L1):c.1606C>T (p.Leu536=)	Heterotaxy, visceral, 8, autosomal [RCV003134930]\|not provided [RCV005099325]	likely benign\|uncertain significance	7	47905242	47905242	Human	1	name
401724894	CV2715016	single nucleotide variant	NM_138295.5(PKD1L1):c.233A>G (p.Lys78Arg)	Inborn genetic diseases [RCV003268773]	uncertain significance	7	47940245	47940245	Human	1	name
401934778	CV2802941	single nucleotide variant	NM_138295.5(PKD1L1):c.1521A>G (p.Gln507=)	PKD1L1-related disorder [RCV003412207]	uncertain significance	7	47905844	47905844	Human		name , trait , alternate_id
401922462	CV2828459	single nucleotide variant	NM_138295.5(PKD1L1):c.2559A>G (p.Ala853=)	not provided [RCV003433805]	likely benign	7	47890658	47890658	Human		name
401922463	CV2828460	single nucleotide variant	NM_138295.5(PKD1L1):c.2037G>T (p.Val679=)	not provided [RCV003433806]	likely benign	7	47902406	47902406	Human		name
401908753	CV2828461	single nucleotide variant	NM_138295.5(PKD1L1):c.1311T>C (p.Ile437=)	not provided [RCV003423572]	likely benign	7	47908168	47908168	Human		name
405135311	CV2896850	single nucleotide variant	NM_138295.5(PKD1L1):c.1473G>A (p.Val491=)	PKD1L1-related disorder [RCV003954285]\|not provided [RCV003560370]	likely benign	7	47905892	47905892	Human	1	name , trait , alternate_id
405006280	CV2929560	single nucleotide variant	NM_138295.5(PKD1L1):c.1497C>T (p.Ser499=)	PKD1L1-related disorder [RCV004750400]\|not provided [RCV003576361]	likely benign	7	47905868	47905868	Human	1	name , trait , alternate_id
405126629	CV2939547	single nucleotide variant	NM_138295.5(PKD1L1):c.2652C>T (p.Ser884=)	not provided [RCV003672017]	likely benign	7	47890565	47890565	Human		name
405246332	CV3048051	single nucleotide variant	NM_138295.5(PKD1L1):c.2475C>T (p.Thr825=)	not provided [RCV003720518]	likely benign	7	47890742	47890742	Human		name
405142270	CV3055946	single nucleotide variant	NM_138295.5(PKD1L1):c.2145C>T (p.Tyr715=)	not provided [RCV003725753]	likely benign	7	47898114	47898114	Human		name
405229317	CV3153412	single nucleotide variant	NM_138295.5(PKD1L1):c.2385C>T (p.Thr795=)	not provided [RCV003848476]	likely benign	7	47893946	47893946	Human		name
405141348	CV3155221	single nucleotide variant	NM_138295.5(PKD1L1):c.1323C>T (p.Ala441=)	not provided [RCV003855459]	likely benign	7	47908156	47908156	Human		name
405078347	CV3156334	single nucleotide variant	NM_138295.5(PKD1L1):c.1260T>C (p.Tyr420=)	not provided [RCV003851392]	likely benign	7	47908219	47908219	Human		name
405263566	CV3189751	single nucleotide variant	NM_138295.5(PKD1L1):c.1878T>C (p.Phe626=)	PKD1L1-related disorder [RCV003896800]	likely benign	7	47904431	47904431	Human		name , trait , alternate_id
405292714	CV3192999	single nucleotide variant	NM_138295.5(PKD1L1):c.2433C>T (p.Asp811=)	PKD1L1-related disorder [RCV003964662]	likely benign	7	47893898	47893898	Human		name , trait , alternate_id
405258638	CV3194027	single nucleotide variant	NM_138295.5(PKD1L1):c.2658C>T (p.Tyr886=)	PKD1L1-related disorder [RCV003893609]	likely benign	7	47890559	47890559	Human		name , trait , alternate_id
405258778	CV3194080	single nucleotide variant	NM_138295.5(PKD1L1):c.2355C>T (p.Ser785=)	PKD1L1-related disorder [RCV003893662]	likely benign	7	47893976	47893976	Human		name , trait , alternate_id
405273508	CV3197807	single nucleotide variant	NM_138295.5(PKD1L1):c.1248G>A (p.Lys416=)	PKD1L1-related disorder [RCV003901771]	likely benign	7	47908231	47908231	Human		name , trait , alternate_id
405280050	CV3200233	single nucleotide variant	NM_138295.5(PKD1L1):c.1320G>A (p.Glu440=)	PKD1L1-related disorder [RCV003977151]	likely benign	7	47908159	47908159	Human		name , trait , alternate_id
405267946	CV3202651	single nucleotide variant	NM_138295.5(PKD1L1):c.2472C>A (p.Ala824=)	PKD1L1-related disorder [RCV003911871]	likely benign	7	47890745	47890745	Human		name , trait , alternate_id
405289483	CV3205103	single nucleotide variant	NM_138295.5(PKD1L1):c.1506C>T (p.Val502=)	PKD1L1-related disorder [RCV003961712]	likely benign	7	47905859	47905859	Human		name , trait , alternate_id
405287486	CV3210607	single nucleotide variant	NM_138295.5(PKD1L1):c.2952G>A (p.Thr984=)	PKD1L1-related disorder [RCV003924380]	likely benign	7	47885939	47885939	Human		name , trait , alternate_id
405285309	CV3212297	single nucleotide variant	NM_138295.5(PKD1L1):c.1176A>G (p.Glu392=)	PKD1L1-related disorder [RCV003958918]	likely benign	7	47915484	47915484	Human		name , trait , alternate_id
405282517	CV3212977	single nucleotide variant	NM_138295.5(PKD1L1):c.1920T>C (p.His640=)	PKD1L1-related disorder [RCV003957085]	likely benign	7	47904389	47904389	Human		name , trait , alternate_id
405290135	CV3214098	single nucleotide variant	NM_138295.5(PKD1L1):c.1791G>A (p.Thr597=)	PKD1L1-related disorder [RCV003926935]	likely benign	7	47904518	47904518	Human		name , trait , alternate_id
405294945	CV3214986	single nucleotide variant	NM_138295.5(PKD1L1):c.2073G>A (p.Arg691=)	PKD1L1-related disorder [RCV003936841]	likely benign	7	47898186	47898186	Human		name , trait , alternate_id
405287506	CV3217776	single nucleotide variant	NM_138295.5(PKD1L1):c.2649G>A (p.Leu883=)	PKD1L1-related disorder [RCV003981899]	likely benign	7	47890568	47890568	Human		name , trait , alternate_id
405749559	CV3369187	single nucleotide variant	NM_138295.5(PKD1L1):c.100G>A (p.Asp34Asn)	Inborn genetic diseases [RCV004498918]	uncertain significance	7	47943456	47943456	Human	1	name
405749579	CV3369190	single nucleotide variant	NM_138295.5(PKD1L1):c.167A>G (p.Tyr56Cys)	Inborn genetic diseases [RCV004498921]	likely benign	7	47940311	47940311	Human	1	name
405749604	CV3369194	single nucleotide variant	NM_138295.5(PKD1L1):c.209G>A (p.Cys70Tyr)	Inborn genetic diseases [RCV004498925]	uncertain significance	7	47940269	47940269	Human	1	name
408381224	CV3501783	deletion	NM_138295.5(PKD1L1):c.427del (p.Ala143fs)	not provided [RCV004729311]	pathogenic	7	47932028	47932028	Human		name
408376608	CV3514823	single nucleotide variant	NM_138295.5(PKD1L1):c.103A>G (p.Lys35Glu)	PKD1L1-related disorder [RCV004749279]	uncertain significance	7	47943453	47943453	Human		name , trait , alternate_id
408376655	CV3515271	single nucleotide variant	NM_138295.5(PKD1L1):c.2898A>G (p.Ser966=)	PKD1L1-related disorder [RCV004749335]	likely benign	7	47885993	47885993	Human		name , trait , alternate_id
408376968	CV3517639	single nucleotide variant	NM_138295.5(PKD1L1):c.2196T>C (p.Ala732=)	PKD1L1-related disorder [RCV004750151]	likely benign	7	47898063	47898063	Human		name , trait , alternate_id
597725298	CV3572495	single nucleotide variant	NM_138295.5(PKD1L1):c.178G>T (p.Val60Leu)	Inborn genetic diseases [RCV004961994]	uncertain significance	7	47940300	47940300	Human	1	name
597920657	CV3738105	single nucleotide variant	NM_138295.5(PKD1L1):c.2295G>A (p.Val765=)	not provided [RCV005074704]	likely benign	7	47894036	47894036	Human		name
597928446	CV3788820	single nucleotide variant	NM_138295.5(PKD1L1):c.2952G>C (p.Thr984=)	not provided [RCV005131299]	likely benign	7	47885939	47885939	Human		name
597935193	CV3807227	single nucleotide variant	NM_138295.5(PKD1L1):c.1110A>G (p.Lys370=)	not provided [RCV005157798]	likely benign	7	47915550	47915550	Human		name
597971253	CV3832778	single nucleotide variant	NM_138295.5(PKD1L1):c.1113A>G (p.Glu371=)	not provided [RCV005166857]	likely benign	7	47915547	47915547	Human		name
597889697	CV3856121	single nucleotide variant	NM_138295.5(PKD1L1):c.1332G>A (p.Ala444=)	not provided [RCV005200366]	likely benign	7	47908147	47908147	Human		name
598167638	CV4003098	single nucleotide variant	NM_138295.5(PKD1L1):c.113G>T (p.Gly38Val)	Inborn genetic diseases [RCV005391745]	uncertain significance	7	47943443	47943443	Human	1	name
15158098	CV700111	single nucleotide variant	NM_138295.5(PKD1L1):c.2775G>A (p.Pro925=)	not provided [RCV000947010]	benign	7	47888051	47888051	Human		name
15197527	CV700112	single nucleotide variant	NM_138295.5(PKD1L1):c.2599C>T (p.Leu867=)	Heterotaxy, visceral, 8, autosomal [RCV002502977]\|not provided [RCV000956490]	benign	7	47890618	47890618	Human	1	name
15197531	CV700114	single nucleotide variant	NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=)	Heterotaxy, visceral, 8, autosomal [RCV002488042]\|not provided [RCV000956491]	benign	7	47898039	47898039	Human	1	name
15188747	CV700116	single nucleotide variant	NM_138295.5(PKD1L1):c.1392G>A (p.Val464=)	not provided [RCV000953975]	benign\|likely benign	7	47908087	47908087	Human		name
15191448	CV722554	single nucleotide variant	NM_138295.5(PKD1L1):c.2979A>T (p.Ser993=)	PKD1L1-related disorder [RCV003955947]\|not provided [RCV000888382]	likely benign	7	47885912	47885912	Human	1	name , trait , alternate_id
15149418	CV722556	single nucleotide variant	NM_138295.5(PKD1L1):c.2031C>T (p.Pro677=)	not provided [RCV000879160]	benign	7	47902412	47902412	Human		name
15176679	CV722559	single nucleotide variant	NM_138295.5(PKD1L1):c.1090T>C (p.Leu364=)	PKD1L1-related disorder [RCV003975563]\|not provided [RCV000884637]	benign	7	47915570	47915570	Human	1	name , trait , alternate_id
15178319	CV736166	single nucleotide variant	NM_138295.5(PKD1L1):c.122T>A (p.Leu41Gln)	not provided [RCV000906850]	benign	7	47943434	47943434	Human		name
15105960	CV750669	single nucleotide variant	NM_138295.5(PKD1L1):c.2424C>T (p.Phe808=)	not provided [RCV000915649]	likely benign	7	47893907	47893907	Human		name
15097993	CV750670	single nucleotide variant	NM_138295.5(PKD1L1):c.1689A>G (p.Gln563=)	not provided [RCV000914141]	benign	7	47905159	47905159	Human		name
15194265	CV750671	single nucleotide variant	NM_138295.5(PKD1L1):c.1617G>A (p.Glu539=)	PKD1L1-related disorder [RCV003913013]\|not provided [RCV000911075]	likely benign	7	47905231	47905231	Human	1	name , trait , alternate_id
15137836	CV766304	single nucleotide variant	NM_138295.5(PKD1L1):c.2871G>A (p.Ser957=)	not provided [RCV000943304]	benign	7	47886020	47886020	Human		name
126736572	CV1016916	single nucleotide variant	NM_138295.5(PKD1L1):c.6357G>A (p.Glu2119=)	Heterotaxy, visceral, 8, autosomal [RCV001328569]\|PKD1L1-related disorder [RCV003953666]\|not provided [RCV005057271]	likely benign\|uncertain significance	7	47831333	47831333	Human	1	name , trait , alternate_id
126736568	CV1016923	single nucleotide variant	NM_138295.5(PKD1L1):c.578G>A (p.Cys193Tyr)	Heterotaxy, visceral, 8, autosomal [RCV001328568]	uncertain significance	7	47931263	47931263	Human	1	name
126734092	CV1020380	deletion	NM_138295.5(PKD1L1):c.2332del (p.Gln778fs)	Heterotaxy, visceral, 8, autosomal [RCV005227798]\|not provided [RCV002614468]	pathogenic	7	47893999	47893999	Human	1	name
127328336	CV1151137	single nucleotide variant	NM_138295.5(PKD1L1):c.913C>T (p.Pro305Ser)	Heterotaxy, visceral, 8, autosomal [RCV001507010]\|Inborn genetic diseases [RCV002564188]\|not provided [RCV005094650]	uncertain significance	7	47929351	47929351	Human	2	name
150502305	CV1223170	single nucleotide variant	NM_138295.5(PKD1L1):c.3813C>T (p.Gly1271=)	Heterotaxy, visceral, 8, autosomal [RCV001788630]\|PKD1L1-related disorder [RCV003980800]\|not provided [RCV001621103]	benign	7	47873982	47873982	Human	1	name , trait , alternate_id
150503817	CV1223826	single nucleotide variant	NM_138295.5(PKD1L1):c.6720A>G (p.Ala2240=)	Heterotaxy, visceral, 8, autosomal [RCV001788640]\|not provided [RCV001621475]	benign	7	47829440	47829440	Human	1	name
150500396	CV1224781	single nucleotide variant	NM_138295.5(PKD1L1):c.6180T>C (p.Pro2060=)	Heterotaxy, visceral, 8, autosomal [RCV001788634]\|not provided [RCV001620613]	benign	7	47833247	47833247	Human	1	name
150511314	CV1229424	single nucleotide variant	NM_138295.5(PKD1L1):c.934G>T (p.Val312Phe)	PKD1L1-related disorder [RCV003980823]\|not provided [RCV001637353]	benign	7	47929330	47929330	Human	1	name , trait , alternate_id
150477965	CV1240114	single nucleotide variant	NM_138295.5(PKD1L1):c.3267T>A (p.Ala1089=)	Heterotaxy, visceral, 8, autosomal [RCV001788684]\|PKD1L1-related disorder [RCV003975795]\|not provided [RCV001652292]	benign	7	47882084	47882084	Human	1	name , trait , alternate_id
150444669	CV1249452	single nucleotide variant	NM_138295.5(PKD1L1):c.5895C>T (p.Cys1965=)	not provided [RCV001666884]	benign	7	47836969	47836969	Human		name
150437398	CV1249862	single nucleotide variant	NM_138295.5(PKD1L1):c.7065G>A (p.Pro2355=)	PKD1L1-related disorder [RCV003968445]\|not provided [RCV001665776]	benign	7	47815358	47815358	Human	1	name , trait , alternate_id
150460309	CV1253088	deletion	NM_138295.5(PKD1L1):c.2064+320_2064+329del	not provided [RCV001669417]	benign	7	47902050	47902059	Human		name
150456065	CV1259959	deletion	NM_138295.5(PKD1L1):c.3266-105_3266-104del	not provided [RCV001681438]	benign	7	47882189	47882190	Human		name
150442690	CV1264476	single nucleotide variant	NM_138295.5(PKD1L1):c.3663G>A (p.Pro1221=)	PKD1L1-related disorder [RCV003975964]\|not provided [RCV001679459]	benign	7	47877489	47877489	Human	1	name , trait , alternate_id
150438775	CV1266673	insertion	NM_138295.5(PKD1L1):c.7962+58_7962+59insTT	not provided [RCV001690108]	benign	7	47803151	47803152	Human		name
150470957	CV1269968	deletion	NM_138295.5(PKD1L1):c.3896+223_3896+228del	not provided [RCV001695255]	benign	7	47873671	47873676	Human		name
150447502	CV1270321	single nucleotide variant	NM_138295.5(PKD1L1):c.3501C>T (p.Tyr1167=)	Heterotaxy, visceral, 8, autosomal [RCV001788794]\|PKD1L1-related disorder [RCV003976008]\|not provided [RCV001691457]	benign	7	47880747	47880747	Human	1	name , trait , alternate_id
150454263	CV1276967	deletion	NM_138295.5(PKD1L1):c.3520+163_3520+189del	not provided [RCV001708758]	benign	7	47880539	47880565	Human		name
156003689	CV1869654	single nucleotide variant	NM_138295.5(PKD1L1):c.433G>A (p.Ala145Thr)	Heterotaxy, visceral, 8, autosomal [RCV005045216]\|not provided [RCV003076715]	uncertain significance	7	47932022	47932022	Human	1	name
156392816	CV1879871	single nucleotide variant	NM_138295.5(PKD1L1):c.6777G>T (p.Ala2259=)	not provided [RCV003068218]	likely benign	7	47827427	47827427	Human		name
156296663	CV1894376	single nucleotide variant	NM_138295.5(PKD1L1):c.5904G>A (p.Ala1968=)	not provided [RCV003087722]	likely benign	7	47836960	47836960	Human		name
156417875	CV1920623	single nucleotide variant	NM_138295.5(PKD1L1):c.8061C>T (p.Pro2687=)	PKD1L1-related disorder [RCV003926730]\|not provided [RCV002611042]	benign\|likely benign	7	47800781	47800781	Human	1	name , trait , alternate_id
156171570	CV1930207	duplication	NM_138295.5(PKD1L1):c.1071dup (p.His358fs)	PKD1L1-related disorder [RCV004750300]\|not provided [RCV002624726]	pathogenic\|likely pathogenic	7	47915588	47915589	Human	1	name , trait , alternate_id
156049319	CV1974300	single nucleotide variant	NM_138295.5(PKD1L1):c.5229G>A (p.Lys1743=)	not provided [RCV002590605]	likely benign	7	47845003	47845003	Human		name
155903392	CV1975816	single nucleotide variant	NM_138295.5(PKD1L1):c.8460C>T (p.Asn2820=)	PKD1L1-related disorder [RCV003943459]\|not provided [RCV002613528]	likely benign	7	47792693	47792693	Human	1	name , trait , alternate_id
156327228	CV2050368	single nucleotide variant	NM_138295.5(PKD1L1):c.884A>G (p.Asn295Ser)	not provided [RCV002810467]	uncertain significance	7	47929380	47929380	Human		name
156330868	CV2094790	single nucleotide variant	NM_138295.5(PKD1L1):c.3228C>T (p.Asp1076=)	PKD1L1-related disorder [RCV003916566]\|not provided [RCV002899916]	benign	7	47884635	47884635	Human	1	name , trait , alternate_id
156271471	CV2103065	single nucleotide variant	NM_138295.5(PKD1L1):c.7062C>T (p.Thr2354=)	not provided [RCV002895938]	benign	7	47815361	47815361	Human		name
156337659	CV2110309	single nucleotide variant	NM_138295.5(PKD1L1):c.5565A>G (p.Gln1855=)	PKD1L1-related disorder [RCV003936427]\|not provided [RCV002938724]	benign\|likely benign	7	47839650	47839650	Human	1	name , trait , alternate_id
156042509	CV2117940	single nucleotide variant	NM_138295.5(PKD1L1):c.631G>A (p.Gly211Arg)	Inborn genetic diseases [RCV002943096]\|PKD1L1-related disorder [RCV003936444]\|not provided [RCV002923970]	benign\|likely benign\|uncertain significance	7	47931210	47931210	Human	2	name , trait , alternate_id
156035378	CV2124310	single nucleotide variant	NM_138295.5(PKD1L1):c.5862G>A (p.Thr1954=)	PKD1L1-related disorder [RCV003916655]\|not provided [RCV002923692]	likely benign	7	47837002	47837002	Human	1	name , trait , alternate_id
156032054	CV2126651	single nucleotide variant	NM_138295.5(PKD1L1):c.6114C>T (p.Thr2038=)	not provided [RCV002949271]	likely benign	7	47834980	47834980	Human		name
156101320	CV2132298	single nucleotide variant	NM_138295.5(PKD1L1):c.704G>A (p.Trp235Ter)	not provided [RCV003002224]	pathogenic	7	47931137	47931137	Human		name
155968613	CV2213184	single nucleotide variant	NM_138295.5(PKD1L1):c.470G>A (p.Arg157Gln)	Inborn genetic diseases [RCV002687295]	uncertain significance	7	47931985	47931985	Human	1	name
156043440	CV2215849	single nucleotide variant	NM_138295.5(PKD1L1):c.539C>T (p.Ala180Val)	Inborn genetic diseases [RCV002692417]	uncertain significance	7	47931302	47931302	Human	1	name
156073319	CV2263754	single nucleotide variant	NM_138295.5(PKD1L1):c.427G>A (p.Ala143Thr)	Inborn genetic diseases [RCV002823573]	uncertain significance	7	47932028	47932028	Human	1	name
155993994	CV2286358	single nucleotide variant	NM_138295.5(PKD1L1):c.626T>A (p.Leu209His)	Inborn genetic diseases [RCV002864752]	uncertain significance	7	47931215	47931215	Human	1	name
156297807	CV2329019	single nucleotide variant	NM_138295.5(PKD1L1):c.408C>A (p.His136Gln)	Inborn genetic diseases [RCV002936109]	uncertain significance	7	47932047	47932047	Human	1	name
155938712	CV2380915	single nucleotide variant	NM_138295.5(PKD1L1):c.469C>T (p.Arg157Trp)	Inborn genetic diseases [RCV002729864]	uncertain significance	7	47931986	47931986	Human	1	name
155906071	CV2393869	single nucleotide variant	NM_138295.5(PKD1L1):c.838G>T (p.Ala280Ser)	Inborn genetic diseases [RCV002749467]	uncertain significance	7	47929426	47929426	Human	1	name
243049889	CV2404850	single nucleotide variant	NM_138295.5(PKD1L1):c.310G>A (p.Ala104Thr)	Heterotaxy, visceral, 8, autosomal [RCV003140403]\|not provided [RCV003720764]	likely benign	7	47936934	47936934	Human	1	name
329384788	CV2454395	single nucleotide variant	NM_138295.5(PKD1L1):c.608A>C (p.Asp203Ala)	Inborn genetic diseases [RCV003214226]	uncertain significance	7	47931233	47931233	Human	1	name
329379126	CV2460176	single nucleotide variant	NM_138295.5(PKD1L1):c.342G>C (p.Gln114His)	Inborn genetic diseases [RCV003212374]	uncertain significance	7	47936902	47936902	Human	1	name
401738689	CV2676350	single nucleotide variant	NM_138295.5(PKD1L1):c.910G>A (p.Ala304Thr)	Inborn genetic diseases [RCV003240235]\|not provided [RCV004725697]	uncertain significance	7	47929354	47929354	Human	1	name
401879700	CV2755236	single nucleotide variant	NM_138295.5(PKD1L1):c.600T>G (p.Cys200Trp)	Inborn genetic diseases [RCV003349460]\|PKD1L1-related disorder [RCV003901020]	likely benign\|uncertain significance	7	47931241	47931241	Human	2	name , trait , alternate_id
401879704	CV2755237	single nucleotide variant	NM_138295.5(PKD1L1):c.601G>T (p.Ala201Ser)	Inborn genetic diseases [RCV003349461]\|PKD1L1-related disorder [RCV003901021]	likely benign\|uncertain significance	7	47931240	47931240	Human	2	name , trait , alternate_id
401917962	CV2795471	deletion	NM_138295.5(PKD1L1):c.1071del (p.His358fs)	Heterotaxy, visceral, 8, autosomal [RCV003389372]	likely pathogenic	7	47915589	47915589	Human	1	name
401902957	CV2797641	single nucleotide variant	NM_138295.5(PKD1L1):c.3066G>A (p.Ala1022=)	PKD1L1-related disorder [RCV003419152]	uncertain significance	7	47885825	47885825	Human		name , trait , alternate_id
401913703	CV2801707	deletion	NM_138295.5(PKD1L1):c.2565del (p.Trp855fs)	PKD1L1-related disorder [RCV003400119]	likely pathogenic	7	47890652	47890652	Human		name , trait , alternate_id
401901768	CV2804609	deletion	NM_138295.5(PKD1L1):c.1163del (p.Asn388fs)	PKD1L1-related disorder [RCV003393202]	likely pathogenic	7	47915497	47915497	Human		name , trait , alternate_id
401903044	CV2804816	single nucleotide variant	NM_138295.5(PKD1L1):c.7053G>A (p.Pro2351=)	PKD1L1-related disorder [RCV003394341]	uncertain significance	7	47815370	47815370	Human		name , trait , alternate_id
401908751	CV2828454	single nucleotide variant	NM_138295.5(PKD1L1):c.7809T>G (p.Leu2603=)	not provided [RCV003423570]	likely benign	7	47808265	47808265	Human		name
401922459	CV2828456	single nucleotide variant	NM_138295.5(PKD1L1):c.5523A>G (p.Glu1841=)	PKD1L1-related disorder [RCV003901074]\|not provided [RCV003433802]	likely benign	7	47840490	47840490	Human	1	name , trait , alternate_id
401922460	CV2828457	single nucleotide variant	NM_138295.5(PKD1L1):c.5169G>A (p.Ala1723=)	PKD1L1-related disorder [RCV003966423]\|not provided [RCV003433803]	likely benign	7	47845063	47845063	Human	1	name , trait , alternate_id
401922461	CV2828458	single nucleotide variant	NM_138295.5(PKD1L1):c.4893T>C (p.Leu1631=)	not provided [RCV003433804]	likely benign	7	47853194	47853194	Human		name
402501307	CV2869048	single nucleotide variant	NM_138295.5(PKD1L1):c.3165G>A (p.Glu1055=)	not provided [RCV003545919]	likely benign	7	47885726	47885726	Human		name
405218581	CV2873751	single nucleotide variant	NM_138295.5(PKD1L1):c.5631C>T (p.Ile1877=)	not provided [RCV003553544]	benign	7	47839584	47839584	Human		name
405140514	CV2900821	single nucleotide variant	NM_138295.5(PKD1L1):c.7986C>T (p.Ala2662=)	not provided [RCV003560812]	likely benign	7	47800856	47800856	Human		name
405112117	CV2903223	single nucleotide variant	NM_138295.5(PKD1L1):c.3630C>A (p.Thr1210=)	PKD1L1-related disorder [RCV003946742]\|not provided [RCV003557963]	likely benign	7	47877522	47877522	Human	1	name , trait , alternate_id
405111606	CV2903227	single nucleotide variant	NM_138295.5(PKD1L1):c.3318C>T (p.Ser1106=)	PKD1L1-related disorder [RCV003954284]\|not provided [RCV003557966]	likely benign	7	47882033	47882033	Human	1	name , trait , alternate_id
405233310	CV2906725	single nucleotide variant	NM_138295.5(PKD1L1):c.938A>G (p.His313Arg)	PKD1L1-related disorder [RCV004750394]\|not provided [RCV003555866]	uncertain significance	7	47929326	47929326	Human	1	name , trait , alternate_id
402480215	CV2910901	single nucleotide variant	NM_138295.5(PKD1L1):c.5427G>A (p.Pro1809=)	PKD1L1-related disorder [RCV004750399]\|not provided [RCV003571996]	likely benign	7	47842980	47842980	Human	1	name , trait , alternate_id
402475762	CV2916807	single nucleotide variant	NM_138295.5(PKD1L1):c.4776C>T (p.Ser1592=)	PKD1L1-related disorder [RCV003939120]\|not provided [RCV003571397]	likely benign	7	47854965	47854965	Human	1	name , trait , alternate_id
405013460	CV2933988	single nucleotide variant	NM_138295.5(PKD1L1):c.5733G>A (p.Glu1911=)	PKD1L1-related disorder [RCV003948898]\|not provided [RCV003576886]	benign\|likely benign	7	47839482	47839482	Human	1	name , trait , alternate_id
405136154	CV2957863	single nucleotide variant	NM_138295.5(PKD1L1):c.3177C>T (p.Pro1059=)	not provided [RCV003672659]	likely benign	7	47885714	47885714	Human		name
404994730	CV2996093	single nucleotide variant	NM_138295.5(PKD1L1):c.4665A>G (p.Lys1555=)	not provided [RCV003692602]	likely benign	7	47855191	47855191	Human		name
405253854	CV3045054	single nucleotide variant	NM_138295.5(PKD1L1):c.4410G>A (p.Arg1470=)	not provided [RCV003722726]	likely benign	7	47857785	47857785	Human		name
405144795	CV3052236	single nucleotide variant	NM_138295.5(PKD1L1):c.8355C>T (p.His2785=)	not provided [RCV003725957]	uncertain significance	7	47795989	47795989	Human		name
405127235	CV3053675	single nucleotide variant	NM_138295.5(PKD1L1):c.5844C>T (p.Ser1948=)	PKD1L1-related disorder [RCV003939160]\|not provided [RCV003724490]	benign\|likely benign	7	47837020	47837020	Human	1	name , trait , alternate_id
405185661	CV3058585	single nucleotide variant	NM_138295.5(PKD1L1):c.5598C>T (p.His1866=)	PKD1L1-related disorder [RCV003919351]\|not provided [RCV003729239]	likely benign\|uncertain significance	7	47839617	47839617	Human	1	name , trait , alternate_id
405039481	CV3067716	single nucleotide variant	NM_138295.5(PKD1L1):c.7590C>T (p.Phe2530=)	PKD1L1-related disorder [RCV003981090]\|not provided [RCV003739730]	likely benign	7	47809569	47809569	Human	1	name , trait , alternate_id
405204952	CV3068041	single nucleotide variant	NM_138295.5(PKD1L1):c.6777G>A (p.Ala2259=)	PKD1L1-related disorder [RCV003948982]\|not provided [RCV003731214]	likely benign	7	47827427	47827427	Human	1	name , trait , alternate_id
405029564	CV3076390	single nucleotide variant	NM_138295.5(PKD1L1):c.766C>T (p.Arg256Cys)	PKD1L1-related disorder [RCV003981108]\|not provided [RCV003738986]	benign\|likely benign	7	47929498	47929498	Human	1	name , trait , alternate_id
405114326	CV3133864	single nucleotide variant	NM_138295.5(PKD1L1):c.4641C>T (p.Pro1547=)	PKD1L1-related disorder [RCV003893472]\|not provided [RCV003836659]	likely benign	7	47855215	47855215	Human	1	name , trait , alternate_id
405021974	CV3139285	single nucleotide variant	NM_138295.5(PKD1L1):c.5904G>C (p.Ala1968=)	not provided [RCV003829928]	likely benign	7	47836960	47836960	Human		name
405247038	CV3158661	single nucleotide variant	NM_138295.5(PKD1L1):c.7728C>T (p.Ser2576=)	not provided [RCV003869003]	benign	7	47808346	47808346	Human		name
405163688	CV3160307	single nucleotide variant	NM_138295.5(PKD1L1):c.3234A>G (p.Gln1078=)	not provided [RCV003857186]	likely benign	7	47884629	47884629	Human		name
405243127	CV3164607	single nucleotide variant	NM_138295.5(PKD1L1):c.7647C>A (p.Gly2549=)	not provided [RCV003867688]	likely benign	7	47809512	47809512	Human		name
405127479	CV3167077	single nucleotide variant	NM_138295.5(PKD1L1):c.5887C>T (p.Leu1963=)	not provided [RCV003854332]	likely benign	7	47836977	47836977	Human		name
405088533	CV3167450	single nucleotide variant	NM_138295.5(PKD1L1):c.7125C>A (p.Gly2375=)	not provided [RCV003852032]	likely benign	7	47813979	47813979	Human		name
405262689	CV3189329	single nucleotide variant	NM_138295.5(PKD1L1):c.7047G>A (p.Leu2349=)	PKD1L1-related disorder [RCV003896563]	likely benign	7	47815376	47815376	Human		name , trait , alternate_id
405260210	CV3190269	single nucleotide variant	NM_138295.5(PKD1L1):c.4509G>A (p.Ala1503=)	PKD1L1-related disorder [RCV003894668]	likely benign	7	47857686	47857686	Human		name , trait , alternate_id
405282936	CV3191183	single nucleotide variant	NM_138295.5(PKD1L1):c.6762C>G (p.Arg2254=)	PKD1L1-related disorder [RCV003921592]	likely benign	7	47827442	47827442	Human		name , trait , alternate_id
405283028	CV3191218	single nucleotide variant	NM_138295.5(PKD1L1):c.4020C>T (p.Ala1340=)	PKD1L1-related disorder [RCV003921624]	likely benign	7	47866491	47866491	Human		name , trait , alternate_id
405283346	CV3191391	single nucleotide variant	NM_138295.5(PKD1L1):c.7728C>A (p.Ser2576=)	PKD1L1-related disorder [RCV003921781]	likely benign	7	47808346	47808346	Human		name , trait , alternate_id
405289044	CV3193963	single nucleotide variant	NM_138295.5(PKD1L1):c.4647C>T (p.Asn1549=)	PKD1L1-related disorder [RCV003983466]	likely benign	7	47855209	47855209	Human		name , trait , alternate_id
405258514	CV3194017	single nucleotide variant	NM_138295.5(PKD1L1):c.6564C>T (p.Cys2188=)	PKD1L1-related disorder [RCV003893599]	likely benign	7	47829596	47829596	Human		name , trait , alternate_id
405262423	CV3194419	single nucleotide variant	NM_138295.5(PKD1L1):c.5637C>T (p.His1879=)	PKD1L1-related disorder [RCV003896448]	likely benign	7	47839578	47839578	Human		name , trait , alternate_id
405262277	CV3194433	single nucleotide variant	NM_138295.5(PKD1L1):c.6093A>G (p.Pro2031=)	PKD1L1-related disorder [RCV003896461]	likely benign	7	47835001	47835001	Human		name , trait , alternate_id
405274303	CV3195057	single nucleotide variant	NM_138295.5(PKD1L1):c.7452A>G (p.Gln2484=)	PKD1L1-related disorder [RCV003902297]	likely benign	7	47811946	47811946	Human		name , trait , alternate_id
405259919	CV3195316	single nucleotide variant	NM_138295.5(PKD1L1):c.6066G>T (p.Gly2022=)	PKD1L1-related disorder [RCV003894509]	likely benign	7	47835028	47835028	Human		name , trait , alternate_id
405277713	CV3196043	single nucleotide variant	NM_138295.5(PKD1L1):c.5376G>T (p.Leu1792=)	PKD1L1-related disorder [RCV003904563]	likely benign	7	47843031	47843031	Human		name , trait , alternate_id
405285876	CV3196478	single nucleotide variant	NM_138295.5(PKD1L1):c.7878C>T (p.Cys2626=)	PKD1L1-related disorder [RCV003981360]	likely benign	7	47803294	47803294	Human		name , trait , alternate_id
405273339	CV3197714	single nucleotide variant	NM_138295.5(PKD1L1):c.3213A>G (p.Glu1071=)	PKD1L1-related disorder [RCV003901681]	likely benign	7	47884650	47884650	Human		name , trait , alternate_id
405257443	CV3197782	single nucleotide variant	NM_138295.5(PKD1L1):c.3351C>A (p.Ser1117=)	PKD1L1-related disorder [RCV003892266]	likely benign	7	47882000	47882000	Human		name , trait , alternate_id
405269877	CV3197946	single nucleotide variant	NM_138295.5(PKD1L1):c.8421C>T (p.Ser2807=)	PKD1L1-related disorder [RCV003899759]	likely benign	7	47792732	47792732	Human		name , trait , alternate_id
405273885	CV3198330	single nucleotide variant	NM_138295.5(PKD1L1):c.7467G>T (p.Val2489=)	PKD1L1-related disorder [RCV003902098]	likely benign	7	47811931	47811931	Human		name , trait , alternate_id
405292335	CV3199994	single nucleotide variant	NM_138295.5(PKD1L1):c.4383T>C (p.His1461=)	PKD1L1-related disorder [RCV003964460]	likely benign	7	47857812	47857812	Human		name , trait , alternate_id
405262490	CV3200104	single nucleotide variant	NM_138295.5(PKD1L1):c.7227C>T (p.Pro2409=)	PKD1L1-related disorder [RCV003967259]	likely benign	7	47813240	47813240	Human		name , trait , alternate_id
405268211	CV3200948	single nucleotide variant	NM_138295.5(PKD1L1):c.5916C>A (p.Ala1972=)	PKD1L1-related disorder [RCV003899064]	likely benign	7	47836948	47836948	Human		name , trait , alternate_id
405268523	CV3200996	single nucleotide variant	NM_138295.5(PKD1L1):c.812A>G (p.Tyr271Cys)	PKD1L1-related disorder [RCV003899108]	uncertain significance	7	47929452	47929452	Human		name , trait , alternate_id
405272762	CV3201372	single nucleotide variant	NM_138295.5(PKD1L1):c.4566T>C (p.Tyr1522=)	PKD1L1-related disorder [RCV003901435]	likely benign	7	47857629	47857629	Human		name , trait , alternate_id
405266961	CV3202082	single nucleotide variant	NM_138295.5(PKD1L1):c.994G>A (p.Val332Ile)	PKD1L1-related disorder [RCV003911563]	likely benign	7	47929270	47929270	Human		name , trait , alternate_id
405277940	CV3202938	single nucleotide variant	NM_138295.5(PKD1L1):c.3942G>T (p.Gly1314=)	PKD1L1-related disorder [RCV003904760]	likely benign	7	47866569	47866569	Human		name , trait , alternate_id
405294043	CV3203374	single nucleotide variant	NM_138295.5(PKD1L1):c.5397G>A (p.Ala1799=)	PKD1L1-related disorder [RCV003933923]\|not provided [RCV005101794]	likely benign	7	47843010	47843010	Human	1	name , trait , alternate_id
405294610	CV3204211	single nucleotide variant	NM_138295.5(PKD1L1):c.6429C>T (p.Thr2143=)	PKD1L1-related disorder [RCV003934557]	likely benign	7	47831261	47831261	Human		name , trait , alternate_id
405289475	CV3205151	single nucleotide variant	NM_138295.5(PKD1L1):c.6516C>T (p.Ser2172=)	PKD1L1-related disorder [RCV003961752]	likely benign	7	47830082	47830082	Human		name , trait , alternate_id
405286745	CV3205389	single nucleotide variant	NM_138295.5(PKD1L1):c.5874C>T (p.Thr1958=)	PKD1L1-related disorder [RCV003959568]	likely benign	7	47836990	47836990	Human		name , trait , alternate_id
405267347	CV3205599	single nucleotide variant	NM_138295.5(PKD1L1):c.7371C>T (p.Ser2457=)	PKD1L1-related disorder [RCV003947388]	likely benign	7	47812027	47812027	Human		name , trait , alternate_id
405279373	CV3206192	single nucleotide variant	NM_138295.5(PKD1L1):c.6171C>A (p.Arg2057=)	PKD1L1-related disorder [RCV003954901]	likely benign	7	47834342	47834342	Human		name , trait , alternate_id
405295148	CV3211040	single nucleotide variant	NM_138295.5(PKD1L1):c.6471C>T (p.Tyr2157=)	PKD1L1-related disorder [RCV003937041]	likely benign	7	47831219	47831219	Human		name , trait , alternate_id
405266852	CV3211892	single nucleotide variant	NM_138295.5(PKD1L1):c.4395G>C (p.Gly1465=)	PKD1L1-related disorder [RCV003947167]	likely benign	7	47857800	47857800	Human		name , trait , alternate_id
405270642	CV3211998	single nucleotide variant	NM_138295.5(PKD1L1):c.8133G>T (p.Arg2711=)	PKD1L1-related disorder [RCV003949393]	likely benign	7	47800709	47800709	Human		name , trait , alternate_id
405270864	CV3212125	single nucleotide variant	NM_138295.5(PKD1L1):c.6495G>A (p.Val2165=)	PKD1L1-related disorder [RCV003949494]	likely benign	7	47830103	47830103	Human		name , trait , alternate_id
405286736	CV3213799	single nucleotide variant	NM_138295.5(PKD1L1):c.7305T>C (p.Cys2435=)	PKD1L1-related disorder [RCV003924198]\|not provided [RCV005101753]	likely benign	7	47813162	47813162	Human	1	name , trait , alternate_id
405294953	CV3215040	single nucleotide variant	NM_138295.5(PKD1L1):c.3630C>T (p.Thr1210=)	PKD1L1-related disorder [RCV003936889]	likely benign	7	47877522	47877522	Human		name , trait , alternate_id
405278585	CV3216689	single nucleotide variant	NM_138295.5(PKD1L1):c.4524A>G (p.Pro1508=)	PKD1L1-related disorder [RCV003954578]	likely benign	7	47857671	47857671	Human		name , trait , alternate_id
405278751	CV3216779	single nucleotide variant	NM_138295.5(PKD1L1):c.6361C>T (p.Leu2121=)	PKD1L1-related disorder [RCV003954650]	likely benign	7	47831329	47831329	Human		name , trait , alternate_id
405283195	CV3218471	single nucleotide variant	NM_138295.5(PKD1L1):c.7935C>T (p.His2645=)	PKD1L1-related disorder [RCV003957268]	likely benign	7	47803237	47803237	Human		name , trait , alternate_id
405286192	CV3218744	single nucleotide variant	NM_138295.5(PKD1L1):c.6522C>T (p.Ser2174=)	PKD1L1-related disorder [RCV003959460]	likely benign	7	47830076	47830076	Human		name , trait , alternate_id
405279230	CV3219452	single nucleotide variant	NM_138295.5(PKD1L1):c.8052C>T (p.Asp2684=)	PKD1L1-related disorder [RCV003954862]\|not provided [RCV005103040]	likely benign	7	47800790	47800790	Human	1	name , trait , alternate_id
405261749	CV3219887	single nucleotide variant	NM_138295.5(PKD1L1):c.6195C>G (p.Leu2065=)	PKD1L1-related disorder [RCV003967065]	likely benign	7	47833232	47833232	Human		name , trait , alternate_id
405262157	CV3220030	single nucleotide variant	NM_138295.5(PKD1L1):c.5196G>A (p.Leu1732=)	PKD1L1-related disorder [RCV003967176]\|not provided [RCV005103028]	likely benign	7	47845036	47845036	Human	1	name , trait , alternate_id
405267065	CV3220178	single nucleotide variant	NM_138295.5(PKD1L1):c.5757C>T (p.Leu1919=)	PKD1L1-related disorder [RCV003969439]	likely benign	7	47839458	47839458	Human		name , trait , alternate_id
405279047	CV3220183	single nucleotide variant	NM_138295.5(PKD1L1):c.4125G>A (p.Arg1375=)	PKD1L1-related disorder [RCV003954794]	likely benign	7	47865240	47865240	Human		name , trait , alternate_id
405261297	CV3221422	single nucleotide variant	NM_138295.5(PKD1L1):c.5955C>T (p.Asp1985=)	PKD1L1-related disorder [RCV003966908]\|not provided [RCV005103014]	likely benign	7	47835232	47835232	Human	1	name , trait , alternate_id
405799692	CV3365336	single nucleotide variant	NM_138295.5(PKD1L1):c.602C>T (p.Ala201Val)	Inborn genetic diseases [RCV004508846]	uncertain significance	7	47931239	47931239	Human	1	name
405799698	CV3365338	single nucleotide variant	NM_138295.5(PKD1L1):c.641C>T (p.Thr214Met)	Inborn genetic diseases [RCV004508848]	likely benign	7	47931200	47931200	Human	1	name
405799701	CV3365339	single nucleotide variant	NM_138295.5(PKD1L1):c.698C>A (p.Pro233His)	Inborn genetic diseases [RCV004508849]	uncertain significance	7	47931143	47931143	Human	1	name
405799716	CV3365343	single nucleotide variant	NM_138295.5(PKD1L1):c.782C>T (p.Thr261Met)	Inborn genetic diseases [RCV004508853]	likely benign	7	47929482	47929482	Human	1	name
405799683	CV3369211	single nucleotide variant	NM_138295.5(PKD1L1):c.5553C>T (p.Ser1851=)	Inborn genetic diseases [RCV004508843]	likely benign	7	47839662	47839662	Human	1	name
407530979	CV3460377	single nucleotide variant	NM_138295.5(PKD1L1):c.490G>T (p.Ala164Ser)	Inborn genetic diseases [RCV004657343]	uncertain significance	7	47931965	47931965	Human	1	name
407512423	CV3460381	single nucleotide variant	NM_138295.5(PKD1L1):c.971T>C (p.Met324Thr)	Inborn genetic diseases [RCV004648404]	uncertain significance	7	47929293	47929293	Human	1	name
408378475	CV3505119	single nucleotide variant	NM_138295.5(PKD1L1):c.4701G>C (p.Leu1567=)	PKD1L1-related disorder [RCV004727882]	uncertain significance	7	47855155	47855155	Human		name , trait , alternate_id
408377279	CV3507917	single nucleotide variant	NM_138295.5(PKD1L1):c.6450G>A (p.Leu2150=)	PKD1L1-related disorder [RCV004750595]	uncertain significance	7	47831240	47831240	Human		name , trait , alternate_id
408375510	CV3509907	single nucleotide variant	NM_138295.5(PKD1L1):c.5961C>T (p.Ser1987=)	PKD1L1-related disorder [RCV004748149]	likely benign	7	47835226	47835226	Human		name , trait , alternate_id
408375627	CV3510049	single nucleotide variant	NM_138295.5(PKD1L1):c.4305G>A (p.Ser1435=)	PKD1L1-related disorder [RCV004748163]	likely benign	7	47858730	47858730	Human		name , trait , alternate_id
408375728	CV3510791	single nucleotide variant	NM_138295.5(PKD1L1):c.4131C>T (p.Leu1377=)	PKD1L1-related disorder [RCV004748266]	likely benign	7	47865234	47865234	Human		name , trait , alternate_id
408376191	CV3512355	single nucleotide variant	NM_138295.5(PKD1L1):c.692G>A (p.Arg231Gln)	Inborn genetic diseases [RCV004953727]\|PKD1L1-related disorder [RCV004748462]	uncertain significance	7	47931149	47931149	Human	2	name , trait , alternate_id
408376386	CV3513260	single nucleotide variant	NM_138295.5(PKD1L1):c.4260C>T (p.Ile1420=)	PKD1L1-related disorder [RCV004749056]	likely benign	7	47858775	47858775	Human		name , trait , alternate_id
408376401	CV3513346	single nucleotide variant	NM_138295.5(PKD1L1):c.3186C>T (p.Ser1062=)	PKD1L1-related disorder [RCV004749076]	likely benign	7	47885705	47885705	Human		name , trait , alternate_id
408376706	CV3515579	single nucleotide variant	NM_138295.5(PKD1L1):c.7611C>T (p.His2537=)	PKD1L1-related disorder [RCV004749378]	likely benign	7	47809548	47809548	Human		name , trait , alternate_id
408376725	CV3515813	single nucleotide variant	NM_138295.5(PKD1L1):c.8532A>C (p.Ala2844=)	PKD1L1-related disorder [RCV004749402]	likely benign	7	47775161	47775161	Human		name , trait , alternate_id
408377047	CV3518027	single nucleotide variant	NM_138295.5(PKD1L1):c.775A>T (p.Ser259Cys)	PKD1L1-related disorder [RCV004750202]	uncertain significance	7	47929489	47929489	Human		name , trait , alternate_id
597724801	CV3572494	single nucleotide variant	NM_138295.5(PKD1L1):c.7347G>A (p.Arg2449=)	Inborn genetic diseases [RCV004961993]	likely benign	7	47812051	47812051	Human	1	name
597724850	CV3572501	single nucleotide variant	NM_138295.5(PKD1L1):c.880C>T (p.Leu294Phe)	Inborn genetic diseases [RCV004961999]	uncertain significance	7	47929384	47929384	Human	1	name
597724869	CV3572503	single nucleotide variant	NM_138295.5(PKD1L1):c.851G>A (p.Arg284Gln)	Inborn genetic diseases [RCV004962001]	likely benign	7	47929413	47929413	Human	1	name
597724947	CV3572516	single nucleotide variant	NM_138295.5(PKD1L1):c.755C>G (p.Pro252Arg)	Inborn genetic diseases [RCV004962012]	uncertain significance	7	47929509	47929509	Human	1	name
597725045	CV3572534	single nucleotide variant	NM_138295.5(PKD1L1):c.926G>A (p.Gly309Glu)	Inborn genetic diseases [RCV004962029]	uncertain significance	7	47929338	47929338	Human	1	name
597902992	CV3741543	single nucleotide variant	NM_138295.5(PKD1L1):c.4182G>A (p.Lys1394=)	not provided [RCV005072514]	likely benign	7	47858853	47858853	Human		name
597895302	CV3744154	single nucleotide variant	NM_138295.5(PKD1L1):c.3249G>A (p.Ser1083=)	not provided [RCV005071624]	likely benign	7	47884614	47884614	Human		name
597849173	CV3746672	single nucleotide variant	NM_138295.5(PKD1L1):c.4167G>A (p.Ala1389=)	not provided [RCV005066069]	likely benign	7	47858868	47858868	Human		name
597963015	CV3795893	single nucleotide variant	NM_138295.5(PKD1L1):c.3141A>T (p.Gly1047=)	not provided [RCV005139383]	likely benign	7	47885750	47885750	Human		name
597945885	CV3844970	single nucleotide variant	NM_138295.5(PKD1L1):c.3666C>T (p.Asp1222=)	not provided [RCV005188956]	likely benign	7	47876215	47876215	Human		name
597871161	CV3849278	single nucleotide variant	NM_138295.5(PKD1L1):c.4650G>A (p.Arg1550=)	not provided [RCV005197459]	likely benign	7	47855206	47855206	Human		name
598202880	CV3896356	duplication	NM_138295.5(PKD1L1):c.2848dup (p.Arg950fs)	Heterotaxy, visceral, 8, autosomal [RCV005356617]	likely pathogenic	7	47886042	47886043	Human	1	name
598167553	CV4003074	single nucleotide variant	NM_138295.5(PKD1L1):c.895G>C (p.Glu299Gln)	Inborn genetic diseases [RCV005391725]	uncertain significance	7	47929369	47929369	Human	1	name
598167591	CV4003083	single nucleotide variant	NM_138295.5(PKD1L1):c.431G>A (p.Arg144Lys)	Inborn genetic diseases [RCV005391734]	uncertain significance	7	47932024	47932024	Human	1	name
598205522	CV4003084	single nucleotide variant	NM_138295.5(PKD1L1):c.956C>T (p.Ala319Val)	Inborn genetic diseases [RCV005399477]	uncertain significance	7	47929308	47929308	Human	1	name
598167607	CV4003091	single nucleotide variant	NM_138295.5(PKD1L1):c.515T>A (p.Leu172His)	Inborn genetic diseases [RCV005391738]	uncertain significance	7	47931940	47931940	Human	1	name
598167618	CV4003093	single nucleotide variant	NM_138295.5(PKD1L1):c.698C>T (p.Pro233Leu)	Inborn genetic diseases [RCV005391740]	likely benign	7	47931143	47931143	Human	1	name
15197500	CV700099	single nucleotide variant	NM_138295.5(PKD1L1):c.7080G>A (p.Pro2360=)	not provided [RCV000956481]	benign	7	47815343	47815343	Human		name
15170874	CV700103	single nucleotide variant	NM_138295.5(PKD1L1):c.6448T>C (p.Leu2150=)	not provided [RCV000949730]	likely benign	7	47831242	47831242	Human		name
15098600	CV700105	single nucleotide variant	NM_138295.5(PKD1L1):c.5946C>T (p.Pro1982=)	PKD1L1-related disorder [RCV004749565]\|not provided [RCV000958599]	benign\|likely benign	7	47835241	47835241	Human	1	name , trait , alternate_id
15184594	CV711019	single nucleotide variant	NM_138295.5(PKD1L1):c.7044C>T (p.Gly2348=)	not provided [RCV000975152]	benign	7	47815379	47815379	Human		name
15145742	CV711028	single nucleotide variant	NM_138295.5(PKD1L1):c.3105T>C (p.Gly1035=)	not provided [RCV000967049]	benign	7	47885786	47885786	Human		name
15160679	CV711030	single nucleotide variant	NM_138295.5(PKD1L1):c.731C>T (p.Pro244Leu)	not provided [RCV000969948]	likely benign	7	47931110	47931110	Human		name
15164441	CV722549	single nucleotide variant	NM_138295.5(PKD1L1):c.5865G>A (p.Pro1955=)	not provided [RCV000882195]	likely benign	7	47836999	47836999	Human		name
15165882	CV722553	single nucleotide variant	NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=)	Heterotaxy, visceral, 8, autosomal [RCV002495351]\|PKD1L1-related disorder [RCV003940454]\|not provided [RCV000882510]	benign\|likely benign	7	47877528	47877528	Human	1	name , trait , alternate_id
15198334	CV722560	single nucleotide variant	NM_138295.5(PKD1L1):c.908G>A (p.Arg303Gln)	not provided [RCV000890326]\|not specified [RCV001702744]	benign\|likely benign	7	47929356	47929356	Human		name
15102962	CV722561	single nucleotide variant	NM_138295.5(PKD1L1):c.490G>A (p.Ala164Thr)	not provided [RCV000892581]	benign	7	47931965	47931965	Human		name
15132728	CV736162	single nucleotide variant	NM_138295.5(PKD1L1):c.3309C>T (p.Ala1103=)	not provided [RCV000898009]	benign	7	47882042	47882042	Human		name
15198631	CV750668	single nucleotide variant	NM_138295.5(PKD1L1):c.4257C>T (p.Leu1419=)	PKD1L1-related disorder [RCV003958335]\|not provided [RCV000912315]	likely benign	7	47858778	47858778	Human	1	name , trait , alternate_id
15200761	CV766300	single nucleotide variant	NM_138295.5(PKD1L1):c.8436C>A (p.Leu2812=)	not provided [RCV000935470]	likely benign	7	47792717	47792717	Human		name
15177783	CV766303	single nucleotide variant	NM_138295.5(PKD1L1):c.3642C>A (p.Val1214=)	not provided [RCV000929240]	likely benign	7	47877510	47877510	Human		name
126751249	CV1007476	single nucleotide variant	NM_138295.5(PKD1L1):c.2216C>T (p.Thr739Ile)	Inborn genetic diseases [RCV002546204]\|not provided [RCV001326877]	uncertain significance	7	47898043	47898043	Human	1	name
150515389	CV1227541	single nucleotide variant	NM_138295.5(PKD1L1):c.2680G>A (p.Val894Ile)	PKD1L1-related disorder [RCV003980825]\|not provided [RCV001638814]	benign	7	47888146	47888146	Human	1	name , trait , alternate_id
150541799	CV1302378	single nucleotide variant	NM_138295.5(PKD1L1):c.1580C>T (p.Thr527Ile)	not provided [RCV001761068]	uncertain significance	7	47905268	47905268	Human		name
152042436	CV1670003	single nucleotide variant	NM_138295.5(PKD1L1):c.2399T>C (p.Ile800Thr)	PKD1L1-related disorder [RCV004749886]\|not provided [RCV002224905]	uncertain significance	7	47893932	47893932	Human	1	name , trait , alternate_id
153348102	CV1695151	duplication	NM_138295.5(PKD1L1):c.8452dup (p.Thr2818fs)	not provided [RCV002279082]	uncertain significance	7	47792700	47792701	Human		name
155644171	CV1706961	single nucleotide variant	NM_138295.5(PKD1L1):c.2927C>G (p.Pro976Arg)	Inborn genetic diseases [RCV004047597]\|not provided [RCV002290916]	uncertain significance	7	47885964	47885964	Human	1	name
155797164	CV1863203	single nucleotide variant	NM_138295.5(PKD1L1):c.2027C>T (p.Pro676Leu)	Heterotaxy, visceral, 8, autosomal [RCV002470477]	uncertain significance	7	47902416	47902416	Human	1	name
155966124	CV1892126	single nucleotide variant	NM_138295.5(PKD1L1):c.2005A>G (p.Ile669Val)	Heterotaxy, visceral, 8, autosomal [RCV003111621]\|Inborn genetic diseases [RCV004960980]\|PKD1L1-related disorder [RCV003953855]\|not provided [RCV003074939]	likely benign\|uncertain significance	7	47902438	47902438	Human	2	name , trait , alternate_id
156359999	CV1904306	single nucleotide variant	NM_138295.5(PKD1L1):c.1758G>C (p.Arg586Ser)	not provided [RCV002581659]	uncertain significance	7	47904551	47904551	Human		name
156405626	CV1994495	single nucleotide variant	NM_138295.5(PKD1L1):c.1093G>T (p.Asp365Tyr)	not provided [RCV002658353]	uncertain significance	7	47915567	47915567	Human		name
156052293	CV2060105	deletion	NM_138295.5(PKD1L1):c.7238del (p.Gly2413fs)	not provided [RCV002796808]	pathogenic	7	47813229	47813229	Human		name
155987175	CV2094079	single nucleotide variant	NM_138295.5(PKD1L1):c.2964C>A (p.Phe988Leu)	PKD1L1-related disorder [RCV003936325]\|not provided [RCV002882214]	benign	7	47885927	47885927	Human	1	name , trait , alternate_id
155985237	CV2094793	single nucleotide variant	NM_138295.5(PKD1L1):c.2774C>T (p.Pro925Leu)	PKD1L1-related disorder [RCV003916569]\|not provided [RCV002907890]	benign	7	47888052	47888052	Human	1	name , trait , alternate_id
156330911	CV2094794	single nucleotide variant	NM_138295.5(PKD1L1):c.2635A>G (p.Thr879Ala)	PKD1L1-related disorder [RCV003916570]\|not provided [RCV002899918]	benign	7	47890582	47890582	Human	1	name , trait , alternate_id
156097003	CV2102969	single nucleotide variant	NM_138295.5(PKD1L1):c.2621G>A (p.Arg874Gln)	PKD1L1-related disorder [RCV003926479]\|not provided [RCV002913255]	likely benign\|uncertain significance	7	47890596	47890596	Human	1	name , trait , alternate_id
156035984	CV2123288	single nucleotide variant	NM_138295.5(PKD1L1):c.1079T>G (p.Leu360Ter)	not provided [RCV002949428]	pathogenic	7	47915581	47915581	Human		name
155937238	CV2125794	single nucleotide variant	NM_138295.5(PKD1L1):c.2620C>T (p.Arg874Trp)	not provided [RCV002971037]	conflicting interpretations of pathogenicity\|uncertain significance	7	47890597	47890597	Human		name
155947625	CV2127239	deletion	NM_138295.5(PKD1L1):c.5322del (p.Asp1775fs)	not provided [RCV002971675]	pathogenic	7	47843085	47843085	Human		name
156019297	CV2141117	single nucleotide variant	NM_138295.5(PKD1L1):c.1913G>C (p.Ser638Thr)	Inborn genetic diseases [RCV002976072]\|not provided [RCV002976071]	uncertain significance	7	47904396	47904396	Human	1	name
156168167	CV2169752	single nucleotide variant	NM_138295.5(PKD1L1):c.1005G>T (p.Arg335Ser)	not provided [RCV003023431]	uncertain significance	7	47929259	47929259	Human		name
156074444	CV2201475	single nucleotide variant	NM_138295.5(PKD1L1):c.2851G>A (p.Val951Ile)	Inborn genetic diseases [RCV002660426]	uncertain significance	7	47886040	47886040	Human	1	name
156179485	CV2201661	single nucleotide variant	NM_138295.5(PKD1L1):c.2870C>T (p.Ser957Leu)	Inborn genetic diseases [RCV002665215]\|PKD1L1-related disorder [RCV003953975]\|not provided [RCV003434600]	likely benign\|uncertain significance	7	47886021	47886021	Human	2	name , trait , alternate_id
155973536	CV2211047	single nucleotide variant	NM_138295.5(PKD1L1):c.1094A>C (p.Asp365Ala)	Inborn genetic diseases [RCV002687715]	uncertain significance	7	47915566	47915566	Human	1	name
156339149	CV2225047	single nucleotide variant	NM_138295.5(PKD1L1):c.2759A>G (p.Asp920Gly)	Inborn genetic diseases [RCV002718910]	uncertain significance	7	47888067	47888067	Human	1	name
155932660	CV2228702	single nucleotide variant	NM_138295.5(PKD1L1):c.2745A>C (p.Gln915His)	Inborn genetic diseases [RCV002728993]	uncertain significance	7	47888081	47888081	Human	1	name
156199736	CV2256016	single nucleotide variant	NM_138295.5(PKD1L1):c.1382A>T (p.Asp461Val)	Inborn genetic diseases [RCV002803378]	uncertain significance	7	47908097	47908097	Human	1	name
156110041	CV2261560	single nucleotide variant	NM_138295.5(PKD1L1):c.2749A>G (p.Met917Val)	Inborn genetic diseases [RCV002799668]\|not provided [RCV003546892]	likely benign\|uncertain significance	7	47888077	47888077	Human	1	name
156252927	CV2268426	single nucleotide variant	NM_138295.5(PKD1L1):c.2027C>G (p.Pro676Arg)	Inborn genetic diseases [RCV002831233]	uncertain significance	7	47902416	47902416	Human	1	name
156151157	CV2268931	single nucleotide variant	NM_138295.5(PKD1L1):c.2512A>G (p.Thr838Ala)	Inborn genetic diseases [RCV002826789]	uncertain significance	7	47890705	47890705	Human	1	name
155981405	CV2272849	single nucleotide variant	NM_138295.5(PKD1L1):c.1603C>A (p.Pro535Thr)	Inborn genetic diseases [RCV002818614]	uncertain significance	7	47905245	47905245	Human	1	name
156277300	CV2277013	single nucleotide variant	NM_138295.5(PKD1L1):c.1880G>C (p.Gly627Ala)	Inborn genetic diseases [RCV002832688]	uncertain significance	7	47904429	47904429	Human	1	name
156264506	CV2282665	single nucleotide variant	NM_138295.5(PKD1L1):c.1298A>C (p.Tyr433Ser)	Inborn genetic diseases [RCV002831921]	uncertain significance	7	47908181	47908181	Human	1	name
156180416	CV2298457	single nucleotide variant	NM_138295.5(PKD1L1):c.2051C>T (p.Pro684Leu)	Inborn genetic diseases [RCV002891941]	uncertain significance	7	47902392	47902392	Human	1	name
156087161	CV2299097	single nucleotide variant	NM_138295.5(PKD1L1):c.1598C>T (p.Thr533Ile)	Inborn genetic diseases [RCV002869608]	uncertain significance	7	47905250	47905250	Human	1	name
156206907	CV2307814	single nucleotide variant	NM_138295.5(PKD1L1):c.1786C>G (p.Leu596Val)	Inborn genetic diseases [RCV002893509]	uncertain significance	7	47904523	47904523	Human	1	name
156350100	CV2316141	single nucleotide variant	NM_138295.5(PKD1L1):c.1597A>G (p.Thr533Ala)	Inborn genetic diseases [RCV002939738]	uncertain significance	7	47905251	47905251	Human	1	name
156395910	CV2325993	single nucleotide variant	NM_138295.5(PKD1L1):c.2686A>T (p.Ile896Phe)	Inborn genetic diseases [RCV002944743]	uncertain significance	7	47888140	47888140	Human	1	name
155915326	CV2339108	single nucleotide variant	NM_138295.5(PKD1L1):c.1385C>T (p.Ser462Phe)	Inborn genetic diseases [RCV002968593]	uncertain significance	7	47908094	47908094	Human	1	name
156196364	CV2347697	single nucleotide variant	NM_138295.5(PKD1L1):c.1430C>T (p.Ser477Phe)	Inborn genetic diseases [RCV002984926]	uncertain significance	7	47905935	47905935	Human	1	name
156111299	CV2353329	single nucleotide variant	NM_138295.5(PKD1L1):c.1849G>A (p.Gly617Ser)	Inborn genetic diseases [RCV002980616]\|PKD1L1-related disorder [RCV003973746]	uncertain significance	7	47904460	47904460	Human	2	name , trait , alternate_id
156173468	CV2355179	single nucleotide variant	NM_138295.5(PKD1L1):c.1406C>T (p.Thr469Ile)	Inborn genetic diseases [RCV002983616]	uncertain significance	7	47905959	47905959	Human	1	name
156222514	CV2399767	single nucleotide variant	NM_138295.5(PKD1L1):c.2533G>A (p.Ala845Thr)	Inborn genetic diseases [RCV002804824]	likely benign	7	47890684	47890684	Human	1	name
329387534	CV2436534	single nucleotide variant	NM_138295.5(PKD1L1):c.2653C>G (p.Pro885Ala)	Inborn genetic diseases [RCV003190155]	uncertain significance	7	47890564	47890564	Human	1	name
329376477	CV2438234	single nucleotide variant	NM_138295.5(PKD1L1):c.2534C>T (p.Ala845Val)	Inborn genetic diseases [RCV003186095]	uncertain significance	7	47890683	47890683	Human	1	name
329375523	CV2440971	single nucleotide variant	NM_138295.5(PKD1L1):c.1696C>T (p.Arg566Cys)	Inborn genetic diseases [RCV003185778]	uncertain significance	7	47904613	47904613	Human	1	name
329396741	CV2458993	single nucleotide variant	NM_138295.5(PKD1L1):c.2503G>A (p.Asp835Asn)	Inborn genetic diseases [RCV003195142]	uncertain significance	7	47890714	47890714	Human	1	name
329846379	CV2524704	single nucleotide variant	NM_138295.5(PKD1L1):c.1387C>T (p.Gln463Ter)	Heterotaxy, visceral, 8, autosomal [RCV003228186]	pathogenic	7	47908092	47908092	Human	1	name
401723287	CV2672101	single nucleotide variant	NM_138295.5(PKD1L1):c.2324T>C (p.Val775Ala)	not provided [RCV003239002]	uncertain significance	7	47894007	47894007	Human		name
401724263	CV2672237	single nucleotide variant	NM_138295.5(PKD1L1):c.2450T>A (p.Leu817His)	not provided [RCV003239138]	uncertain significance	7	47893881	47893881	Human		name
401766156	CV2679589	single nucleotide variant	NM_138295.5(PKD1L1):c.1525G>A (p.Val509Ile)	Inborn genetic diseases [RCV003259388]\|PKD1L1-related disorder [RCV004750357]	likely benign\|uncertain significance	7	47905323	47905323	Human	2	name , trait , alternate_id
401745412	CV2693250	single nucleotide variant	NM_138295.5(PKD1L1):c.1664T>C (p.Ile555Thr)	Inborn genetic diseases [RCV003241789]	uncertain significance	7	47905184	47905184	Human	1	name
401758904	CV2694337	single nucleotide variant	NM_138295.5(PKD1L1):c.2666C>T (p.Ser889Leu)	Inborn genetic diseases [RCV003279969]	uncertain significance	7	47890551	47890551	Human	1	name
401717845	CV2704039	single nucleotide variant	NM_138295.5(PKD1L1):c.1807C>A (p.Leu603Met)	Inborn genetic diseases [RCV003266277]	uncertain significance	7	47904502	47904502	Human	1	name
401720379	CV2705859	single nucleotide variant	NM_138295.5(PKD1L1):c.2648T>C (p.Leu883Pro)	Inborn genetic diseases [RCV003267185]	uncertain significance	7	47890569	47890569	Human	1	name
401760954	CV2706159	single nucleotide variant	NM_138295.5(PKD1L1):c.2731G>C (p.Glu911Gln)	Inborn genetic diseases [RCV003257395]	uncertain significance	7	47888095	47888095	Human	1	name
401731930	CV2712218	single nucleotide variant	NM_138295.5(PKD1L1):c.1285G>C (p.Glu429Gln)	Inborn genetic diseases [RCV003271885]	uncertain significance	7	47908194	47908194	Human	1	name
401761402	CV2726750	single nucleotide variant	NM_138295.5(PKD1L1):c.1279G>A (p.Glu427Lys)	Inborn genetic diseases [RCV003299837]	likely benign	7	47908200	47908200	Human	1	name
401798229	CV2739255	single nucleotide variant	NM_138295.5(PKD1L1):c.1522T>C (p.Ser508Pro)	not provided [RCV003318903]	uncertain significance	7	47905843	47905843	Human		name
401864840	CV2757227	single nucleotide variant	NM_138295.5(PKD1L1):c.2179G>A (p.Val727Ile)	Inborn genetic diseases [RCV003344439]	uncertain significance	7	47898080	47898080	Human	1	name
401937948	CV2797259	single nucleotide variant	NM_138295.5(PKD1L1):c.1063A>T (p.Ile355Phe)	PKD1L1-related disorder [RCV003417044]	uncertain significance	7	47915597	47915597	Human		name , trait , alternate_id
401902875	CV2799750	single nucleotide variant	NM_138295.5(PKD1L1):c.1886G>A (p.Gly629Asp)	PKD1L1-related disorder [RCV003419122]	uncertain significance	7	47904423	47904423	Human		name , trait , alternate_id
401913623	CV2804173	single nucleotide variant	NM_138295.5(PKD1L1):c.2243A>C (p.Glu748Ala)	PKD1L1-related disorder [RCV003427900]	uncertain significance	7	47898016	47898016	Human		name , trait , alternate_id
401933390	CV2804258	single nucleotide variant	NM_138295.5(PKD1L1):c.1369C>T (p.Leu457Phe)	PKD1L1-related disorder [RCV003392891]	uncertain significance	7	47908110	47908110	Human		name , trait , alternate_id
401901867	CV2804748	single nucleotide variant	NM_138295.5(PKD1L1):c.1872G>A (p.Trp624Ter)	PKD1L1-related disorder [RCV003393242]	likely pathogenic	7	47904437	47904437	Human		name , trait , alternate_id
405000515	CV2851705	deletion	NM_138295.5(PKD1L1):c.6124del (p.His2042fs)	Heterotaxy, visceral, 8, autosomal [RCV003493240]	likely pathogenic	7	47834970	47834970	Human	1	name
402503255	CV2879823	single nucleotide variant	NM_138295.5(PKD1L1):c.2008G>A (p.Val670Met)	PKD1L1-related disorder [RCV003946671]\|not provided [RCV003546124]	likely benign	7	47902435	47902435	Human	1	name , trait , alternate_id
405196307	CV3128689	single nucleotide variant	NM_138295.5(PKD1L1):c.2594T>C (p.Val865Ala)	not provided [RCV003821427]	uncertain significance	7	47890623	47890623	Human		name
405260411	CV3204028	single nucleotide variant	NM_138295.5(PKD1L1):c.2908A>C (p.Asn970His)	Inborn genetic diseases [RCV004953657]\|PKD1L1-related disorder [RCV003943906]	likely benign\|uncertain significance	7	47885983	47885983	Human	2	name , trait , alternate_id
405260903	CV3204379	single nucleotide variant	NM_138295.5(PKD1L1):c.1279G>T (p.Glu427Ter)	Heterotaxy, visceral, 8, autosomal [RCV004787083]\|PKD1L1-related disorder [RCV003944207]	pathogenic\|likely pathogenic	7	47908200	47908200	Human	1	name , trait , alternate_id
405270230	CV3215441	single nucleotide variant	NM_138295.5(PKD1L1):c.1192A>C (p.Asn398His)	PKD1L1-related disorder [RCV003949184]\|not provided [RCV005101829]	likely benign\|uncertain significance	7	47915468	47915468	Human	1	name , trait , alternate_id
405262225	CV3220105	single nucleotide variant	NM_138295.5(PKD1L1):c.1958T>G (p.Leu653Arg)	PKD1L1-related disorder [RCV003967232]	uncertain significance	7	47902485	47902485	Human		name , trait , alternate_id
405267194	CV3220231	single nucleotide variant	NM_138295.5(PKD1L1):c.2200G>A (p.Asp734Asn)	PKD1L1-related disorder [RCV003969479]	likely benign	7	47898059	47898059	Human		name , trait , alternate_id
405256318	CV3222588	single nucleotide variant	NM_138295.5(PKD1L1):c.1543G>A (p.Gly515Arg)	Congenital chylothorax [RCV003986093]	uncertain significance	7	47905305	47905305	Human	1	name
405749571	CV3369189	single nucleotide variant	NM_138295.5(PKD1L1):c.1679G>T (p.Ser560Ile)	Inborn genetic diseases [RCV004498920]	uncertain significance	7	47905169	47905169	Human	1	name
405749591	CV3369192	single nucleotide variant	NM_138295.5(PKD1L1):c.1793C>T (p.Ser598Phe)	Inborn genetic diseases [RCV004498923]	uncertain significance	7	47904516	47904516	Human	1	name
405749599	CV3369193	single nucleotide variant	NM_138295.5(PKD1L1):c.1891G>A (p.Val631Ile)	Inborn genetic diseases [RCV004498924]	likely benign	7	47904418	47904418	Human	1	name
405749613	CV3369195	single nucleotide variant	NM_138295.5(PKD1L1):c.2183C>G (p.Ser728Cys)	Inborn genetic diseases [RCV004498926]	uncertain significance	7	47898076	47898076	Human	1	name
405749619	CV3369196	single nucleotide variant	NM_138295.5(PKD1L1):c.2231G>A (p.Ser744Asn)	Inborn genetic diseases [RCV004498927]	uncertain significance	7	47898028	47898028	Human	1	name
405749633	CV3369198	single nucleotide variant	NM_138295.5(PKD1L1):c.2721C>G (p.Asn907Lys)	Inborn genetic diseases [RCV004498929]	uncertain significance	7	47888105	47888105	Human	1	name
405750006	CV3369199	single nucleotide variant	NM_138295.5(PKD1L1):c.2897C>T (p.Ser966Leu)	Inborn genetic diseases [RCV004498930]	likely benign	7	47885994	47885994	Human	1	name
405873501	CV3398591	single nucleotide variant	NM_138295.5(PKD1L1):c.1330G>C (p.Ala444Pro)	not provided [RCV004576087]	uncertain significance	7	47908149	47908149	Human		name
407512392	CV3460348	single nucleotide variant	NM_138295.5(PKD1L1):c.2249G>A (p.Gly750Glu)	Inborn genetic diseases [RCV004648389]	uncertain significance	7	47898010	47898010	Human	1	name
407512407	CV3460362	single nucleotide variant	NM_138295.5(PKD1L1):c.1259A>G (p.Tyr420Cys)	Inborn genetic diseases [RCV004648396]	uncertain significance	7	47908220	47908220	Human	1	name
407512416	CV3460369	single nucleotide variant	NM_138295.5(PKD1L1):c.2983G>A (p.Val995Met)	Inborn genetic diseases [RCV004648401]	uncertain significance	7	47885908	47885908	Human	1	name
407512419	CV3460371	single nucleotide variant	NM_138295.5(PKD1L1):c.1820G>A (p.Ser607Asn)	Inborn genetic diseases [RCV004648402]	uncertain significance	7	47904489	47904489	Human	1	name
407530977	CV3460375	single nucleotide variant	NM_138295.5(PKD1L1):c.2773C>T (p.Pro925Ser)	Inborn genetic diseases [RCV004657341]	uncertain significance	7	47888053	47888053	Human	1	name
407477471	CV3495126	deletion	NM_138295.5(PKD1L1):c.3011del (p.Ala1004fs)	Heterotaxy, visceral, 8, autosomal [RCV004691028]	pathogenic	7	47885880	47885880	Human	1	name
408382775	CV3503612	single nucleotide variant	NM_138295.5(PKD1L1):c.1388A>C (p.Gln463Pro)	PKD1L1-related disorder [RCV004730093]	uncertain significance	7	47908091	47908091	Human		name , trait , alternate_id
408370875	CV3505814	deletion	NM_138295.5(PKD1L1):c.6986del (p.Gly2329fs)	PKD1L1-related disorder [RCV004724269]	likely pathogenic	7	47815437	47815437	Human		name , trait , alternate_id
408375404	CV3509323	single nucleotide variant	NM_138295.5(PKD1L1):c.2978C>T (p.Ser993Leu)	PKD1L1-related disorder [RCV004748074]	uncertain significance	7	47885913	47885913	Human		name , trait , alternate_id
408375556	CV3510152	single nucleotide variant	NM_138295.5(PKD1L1):c.1379C>T (p.Ala460Val)	PKD1L1-related disorder [RCV004748175]	uncertain significance	7	47908100	47908100	Human		name , trait , alternate_id
408376122	CV3512460	single nucleotide variant	NM_138295.5(PKD1L1):c.2212C>G (p.Gln738Glu)	PKD1L1-related disorder [RCV004748476]	uncertain significance	7	47898047	47898047	Human		name , trait , alternate_id
408376777	CV3516421	single nucleotide variant	NM_138295.5(PKD1L1):c.2230A>G (p.Ser744Gly)	PKD1L1-related disorder [RCV004749471]	uncertain significance	7	47898029	47898029	Human		name , trait , alternate_id
408377011	CV3517946	single nucleotide variant	NM_138295.5(PKD1L1):c.2606T>A (p.Val869Asp)	PKD1L1-related disorder [RCV004750193]	uncertain significance	7	47890611	47890611	Human		name , trait , alternate_id
408393204	CV3519735	single nucleotide variant	NM_138295.5(PKD1L1):c.2425G>A (p.Asp809Asn)	not provided [RCV004764031]	uncertain significance	7	47893906	47893906	Human		name
597724783	CV3572490	single nucleotide variant	NM_138295.5(PKD1L1):c.1342T>C (p.Ser448Pro)	Inborn genetic diseases [RCV004961990]	uncertain significance	7	47908137	47908137	Human	1	name
597724794	CV3572493	single nucleotide variant	NM_138295.5(PKD1L1):c.2727T>G (p.Asn909Lys)	Inborn genetic diseases [RCV004961992]	uncertain significance	7	47888099	47888099	Human	1	name
597724826	CV3572497	single nucleotide variant	NM_138295.5(PKD1L1):c.1300T>G (p.Tyr434Asp)	Inborn genetic diseases [RCV004961996]	uncertain significance	7	47908179	47908179	Human	1	name
597724860	CV3572502	single nucleotide variant	NM_138295.5(PKD1L1):c.2513C>G (p.Thr838Ser)	Inborn genetic diseases [RCV004962000]	uncertain significance	7	47890704	47890704	Human	1	name
597724875	CV3572504	single nucleotide variant	NM_138295.5(PKD1L1):c.1697G>A (p.Arg566His)	Inborn genetic diseases [RCV004962002]	uncertain significance	7	47904612	47904612	Human	1	name
597724896	CV3572506	single nucleotide variant	NM_138295.5(PKD1L1):c.2690C>T (p.Ser897Phe)	Inborn genetic diseases [RCV004962004]	uncertain significance	7	47888136	47888136	Human	1	name
597724927	CV3572511	single nucleotide variant	NM_138295.5(PKD1L1):c.2731G>A (p.Glu911Lys)	Inborn genetic diseases [RCV004962009]	uncertain significance	7	47888095	47888095	Human	1	name
597724969	CV3572519	single nucleotide variant	NM_138295.5(PKD1L1):c.2267C>T (p.Ala756Val)	Inborn genetic diseases [RCV004962015]	uncertain significance	7	47897992	47897992	Human	1	name
597725304	CV3572522	single nucleotide variant	NM_138295.5(PKD1L1):c.2070G>C (p.Trp690Cys)	Inborn genetic diseases [RCV004962018]	uncertain significance	7	47898189	47898189	Human	1	name
597725063	CV3572538	single nucleotide variant	NM_138295.5(PKD1L1):c.2975C>A (p.Pro992His)	Inborn genetic diseases [RCV004962032]	uncertain significance	7	47885916	47885916	Human	1	name
597725074	CV3572540	single nucleotide variant	NM_138295.5(PKD1L1):c.1561G>C (p.Asp521His)	Inborn genetic diseases [RCV004962034]	uncertain significance	7	47905287	47905287	Human	1	name
597725080	CV3572541	single nucleotide variant	NM_138295.5(PKD1L1):c.1801T>G (p.Ser601Ala)	Inborn genetic diseases [RCV004962035]	uncertain significance	7	47904508	47904508	Human	1	name
598167542	CV4003071	single nucleotide variant	NM_138295.5(PKD1L1):c.2951C>T (p.Thr984Met)	Inborn genetic diseases [RCV005391722]	uncertain significance	7	47885940	47885940	Human	1	name
598167546	CV4003072	single nucleotide variant	NM_138295.5(PKD1L1):c.2669C>T (p.Ala890Val)	Inborn genetic diseases [RCV005391723]	uncertain significance	7	47890548	47890548	Human	1	name
598167558	CV4003075	single nucleotide variant	NM_138295.5(PKD1L1):c.1753A>C (p.Ile585Leu)	Inborn genetic diseases [RCV005391726]	uncertain significance	7	47904556	47904556	Human	1	name
598167595	CV4003085	single nucleotide variant	NM_138295.5(PKD1L1):c.1596A>C (p.Glu532Asp)	Inborn genetic diseases [RCV005391735]	uncertain significance	7	47905252	47905252	Human	1	name
598205537	CV4003090	single nucleotide variant	NM_138295.5(PKD1L1):c.1446C>A (p.Asn482Lys)	Inborn genetic diseases [RCV005399480]	uncertain significance	7	47905919	47905919	Human	1	name
598167626	CV4003095	single nucleotide variant	NM_138295.5(PKD1L1):c.1984A>G (p.Thr662Ala)	Inborn genetic diseases [RCV005391742]	uncertain significance	7	47902459	47902459	Human	1	name
598167629	CV4003096	single nucleotide variant	NM_138295.5(PKD1L1):c.2590C>T (p.Leu864Phe)	Inborn genetic diseases [RCV005391743]	uncertain significance	7	47890627	47890627	Human	1	name
598167633	CV4003097	single nucleotide variant	NM_138295.5(PKD1L1):c.2639G>A (p.Arg880Gln)	Inborn genetic diseases [RCV005391744]	likely benign	7	47890578	47890578	Human	1	name
15191980	CV700109	single nucleotide variant	NM_138295.5(PKD1L1):c.2969G>A (p.Arg990Gln)	Heterotaxy, visceral, 8, autosomal [RCV001262203]\|not provided [RCV000954934]	benign\|likely benign	7	47885922	47885922	Human	1	name
15202949	CV700110	single nucleotide variant	NM_138295.5(PKD1L1):c.2954C>T (p.Thr985Ile)	PKD1L1-related disorder [RCV003926077]\|not provided [RCV000958126]	benign	7	47885937	47885937	Human	1	name , trait , alternate_id
15158103	CV700113	single nucleotide variant	NM_138295.5(PKD1L1):c.2434G>A (p.Asp812Asn)	not provided [RCV000947011]	benign	7	47893897	47893897	Human		name
15186334	CV700117	single nucleotide variant	NM_138295.5(PKD1L1):c.1208T>C (p.Leu403Pro)	PKD1L1-related disorder [RCV003925974]\|not provided [RCV000953252]	benign	7	47915452	47915452	Human	1	name , trait , alternate_id
15197535	CV700118	single nucleotide variant	NM_138295.5(PKD1L1):c.1011C>G (p.His337Gln)	PKD1L1-related disorder [RCV003935865]\|not provided [RCV000956492]	benign	7	47929253	47929253	Human	1	name , trait , alternate_id
15171670	CV722555	single nucleotide variant	NM_138295.5(PKD1L1):c.2276A>T (p.Gln759Leu)	Inborn genetic diseases [RCV002539317]\|PKD1L1-related disorder [RCV003948339]\|not provided [RCV000883695]	likely benign\|uncertain significance	7	47894055	47894055	Human	2	name , trait , alternate_id
15202479	CV722557	single nucleotide variant	NM_138295.5(PKD1L1):c.1324G>A (p.Val442Met)	PKD1L1-related disorder [RCV003957955]\|not provided [RCV000891484]	likely benign	7	47908155	47908155	Human	1	name , trait , alternate_id
15128950	CV736163	single nucleotide variant	NM_138295.5(PKD1L1):c.2470G>A (p.Ala824Thr)	PKD1L1-related disorder [RCV003958076]\|not provided [RCV000897358]	likely benign	7	47890747	47890747	Human	1	name , trait , alternate_id
15152731	CV736164	single nucleotide variant	NM_138295.5(PKD1L1):c.1240A>G (p.Met414Val)	not provided [RCV000901626]	benign	7	47908239	47908239	Human		name
15127014	CV750672	single nucleotide variant	NM_138295.5(PKD1L1):c.1031C>T (p.Ala344Val)	Inborn genetic diseases [RCV004029441]\|PKD1L1-related disorder [RCV003942827]\|not provided [RCV000919427]	likely benign	7	47929233	47929233	Human	2	name , trait , alternate_id
15194444	CV766306	single nucleotide variant	NM_138295.5(PKD1L1):c.1237T>C (p.Tyr413His)	PKD1L1-related disorder [RCV004749550]\|not provided [RCV000933647]	likely benign	7	47908242	47908242	Human	1	name , trait , alternate_id
126736584	CV1016911	single nucleotide variant	NM_138295.5(PKD1L1):c.8438C>T (p.Pro2813Leu)	Heterotaxy, visceral, 8, autosomal [RCV001328572]	uncertain significance	7	47792715	47792715	Human	1	name
126736576	CV1016915	single nucleotide variant	NM_138295.5(PKD1L1):c.7294C>T (p.Pro2432Ser)	Heterotaxy, visceral, 8, autosomal [RCV001328570]	uncertain significance	7	47813173	47813173	Human	1	name
126736564	CV1016918	single nucleotide variant	NM_138295.5(PKD1L1):c.5158C>T (p.His1720Tyr)	Heterotaxy, visceral, 8, autosomal [RCV001328567]	uncertain significance	7	47845074	47845074	Human	1	name
126736561	CV1016920	single nucleotide variant	NM_138295.5(PKD1L1):c.3601C>T (p.Gln1201Ter)	Heterotaxy, visceral, 8, autosomal [RCV001328566]\|not provided [RCV002469374]	pathogenic	7	47877551	47877551	Human	1	name
126734121	CV1020370	single nucleotide variant	NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter)	Heterotaxy, visceral, 8, autosomal [RCV002248436]\|not provided [RCV003718459]	pathogenic	7	47800837	47800837	Human	1	name
126734117	CV1020372	single nucleotide variant	NM_138295.5(PKD1L1):c.7014G>A (p.Trp2338Ter)	Heterotaxy, visceral, 8, autosomal [RCV001334513]	pathogenic	7	47815409	47815409	Human		name
126734110	CV1020374	single nucleotide variant	NM_138295.5(PKD1L1):c.5557C>T (p.Pro1853Ser)	Heterotaxy, visceral, 8, autosomal [RCV001334511]	uncertain significance	7	47839658	47839658	Human	1	name
126734107	CV1020376	single nucleotide variant	NM_138295.5(PKD1L1):c.4321C>T (p.Arg1441Ter)	Heterotaxy, visceral, 8, autosomal [RCV001334510]	pathogenic	7	47858714	47858714	Human		name
126734098	CV1020378	single nucleotide variant	NM_138295.5(PKD1L1):c.4039C>T (p.Arg1347Ter)	Heterotaxy, visceral, 8, autosomal [RCV003228184]	pathogenic	7	47866472	47866472	Human	1	name
126734097	CV1020379	single nucleotide variant	NM_138295.5(PKD1L1):c.4035G>A (p.Trp1345Ter)	Heterotaxy, visceral, 8, autosomal [RCV001334507]	pathogenic	7	47866476	47866476	Human		name
126909689	CV1036857	single nucleotide variant	NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe)	Heterotaxy, visceral, 8, autosomal [RCV001353373]\|PKD1L1-related disorder [RCV003938647]\|not provided [RCV002548495]\|not specified [RCV004587136]	likely benign	7	47811980	47811980	Human	1	name , trait , alternate_id
150331908	CV1171736	single nucleotide variant	NM_138295.5(PKD1L1):c.5764C>T (p.Arg1922Trp)	PKD1L1-related disorder [RCV003983965]\|not provided [RCV001538827]	benign	7	47839451	47839451	Human	1	name , trait , alternate_id
150493659	CV1225708	single nucleotide variant	NM_138295.5(PKD1L1):c.6062C>T (p.Pro2021Leu)	Heterotaxy, visceral, 8, autosomal [RCV001788633]\|not provided [RCV001619224]	benign	7	47835032	47835032	Human	1	name
150493346	CV1238652	insertion	NM_138295.5(PKD1L1):c.3266-103_3266-102insCG	not provided [RCV001655196]	benign	7	47882187	47882188	Human		name
150455269	CV1246891	single nucleotide variant	NM_138295.5(PKD1L1):c.7228G>A (p.Glu2410Lys)	PKD1L1-related disorder [RCV003984043]\|not provided [RCV001668659]	benign	7	47813239	47813239	Human	1	name , trait , alternate_id
150464805	CV1252772	single nucleotide variant	NM_138295.5(PKD1L1):c.8053G>A (p.Ala2685Thr)	Heterotaxy, visceral, 8, autosomal [RCV001788735]\|not provided [RCV001670096]	benign	7	47800789	47800789	Human	1	name
150459744	CV1264061	single nucleotide variant	NM_138295.5(PKD1L1):c.3814A>G (p.Lys1272Glu)	Heterotaxy, visceral, 8, autosomal [RCV001788769]\|PKD1L1-related disorder [RCV003975951]\|not provided [RCV001681976]	benign	7	47873981	47873981	Human	1	name , trait , alternate_id
150450297	CV1275006	single nucleotide variant	NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu)	Congenital chylothorax [RCV003986056]\|Inborn genetic diseases [RCV002539709]\|PKD1L1-related disorder [RCV003426183]\|not provided [RCV001702013]	likely benign\|uncertain significance	7	47873950	47873950	Human	3	name , trait , alternate_id
150464356	CV1276373	single nucleotide variant	NM_138295.5(PKD1L1):c.7373G>A (p.Arg2458Gln)	PKD1L1-related disorder [RCV003976042]\|not provided [RCV001710318]	benign	7	47812025	47812025	Human	1	name , trait , alternate_id
150445354	CV1278138	single nucleotide variant	NM_138295.5(PKD1L1):c.3158G>C (p.Arg1053Pro)	Heterotaxy, visceral, 8, autosomal [RCV001788819]\|PKD1L1-related disorder [RCV003984078]\|not provided [RCV001707281]	benign	7	47885733	47885733	Human	1	name , trait , alternate_id
150482255	CV1279941	single nucleotide variant	NM_138295.5(PKD1L1):c.3833C>A (p.Pro1278Gln)	Heterotaxy, visceral, 8, autosomal [RCV001788823]\|not provided [RCV001714994]	benign	7	47873962	47873962	Human	1	name
150520373	CV1289557	single nucleotide variant	NM_138295.5(PKD1L1):c.4938T>G (p.Tyr1646Ter)	Heterotaxy, visceral, 8, autosomal [RCV001729974]	likely pathogenic	7	47853149	47853149	Human	1	name
150554300	CV1295718	single nucleotide variant	NM_138295.5(PKD1L1):c.3907A>G (p.Ser1303Gly)	not provided [RCV001770948]	uncertain significance	7	47866604	47866604	Human		name
150536666	CV1297066	single nucleotide variant	NM_138295.5(PKD1L1):c.7663C>T (p.Arg2555Ter)	PKD1L1-related disorder [RCV003913363]\|not provided [RCV001763357]	pathogenic\|uncertain significance	7	47809496	47809496	Human	1	name , trait , alternate_id
150536263	CV1302377	single nucleotide variant	NM_138295.5(PKD1L1):c.7386C>A (p.Ser2462Arg)	not provided [RCV001761067]	uncertain significance	7	47812012	47812012	Human		name
151235385	CV1318667	single nucleotide variant	NM_138295.5(PKD1L1):c.7795A>G (p.Met2599Val)	Inborn genetic diseases [RCV002544328]\|not provided [RCV001794999]	likely benign	7	47808279	47808279	Human	1	name
151350773	CV1324829	single nucleotide variant	NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter)	Heterotaxy, visceral, 8, autosomal [RCV001809274]	likely pathogenic	7	47831294	47831294	Human	1	name
155266580	CV1699150	single nucleotide variant	NM_138295.5(PKD1L1):c.3683G>A (p.Ser1228Asn)	not specified [RCV002282945]	uncertain significance	7	47876198	47876198	Human		name
155266581	CV1699151	single nucleotide variant	NM_138295.5(PKD1L1):c.5605C>T (p.Arg1869Cys)	not specified [RCV002282946]	uncertain significance	7	47839610	47839610	Human		name
155267257	CV1699510	single nucleotide variant	NM_138295.5(PKD1L1):c.5846G>C (p.Ser1949Thr)	Inborn genetic diseases [RCV004958531]\|PKD1L1-related disorder [RCV003426380]\|not provided [RCV002283305]	uncertain significance	7	47837018	47837018	Human	2	name , trait , alternate_id
155641780	CV1707133	single nucleotide variant	NM_138295.5(PKD1L1):c.7279G>A (p.Val2427Met)	Inborn genetic diseases [RCV004047599]\|PKD1L1-related disorder [RCV003960987]\|not provided [RCV002288063]	likely benign\|uncertain significance	7	47813188	47813188	Human	3	name , trait , alternate_id
155641780	CV1707133	single nucleotide variant	NM_138295.5(PKD1L1):c.7279G>A (p.Val2427Met)	Inborn genetic diseases [RCV004047599]\|PKD1L1-related disorder [RCV003960987]\|not provided [RCV002288063]	likely benign\|uncertain significance	7	47813188	47813189	Human	3	name , trait , alternate_id
155707159	CV1778405	single nucleotide variant	NM_138295.5(PKD1L1):c.7133T>C (p.Val2378Ala)	not provided [RCV002296016]	uncertain significance	7	47813971	47813971	Human		name
155715070	CV1780366	single nucleotide variant	NM_138295.5(PKD1L1):c.7381G>A (p.Ala2461Thr)	not provided [RCV002305970]	uncertain significance	7	47812017	47812017	Human		name
155800631	CV1863753	single nucleotide variant	NM_138295.5(PKD1L1):c.5881T>G (p.Phe1961Val)	not provided [RCV002474176]	uncertain significance	7	47836983	47836983	Human		name
156216851	CV1869398	single nucleotide variant	NM_138295.5(PKD1L1):c.6500G>A (p.Trp2167Ter)	not provided [RCV003058762]	pathogenic	7	47830098	47830098	Human		name
156382668	CV1886335	single nucleotide variant	NM_138295.5(PKD1L1):c.3413G>A (p.Arg1138Gln)	Inborn genetic diseases [RCV004654125]\|PKD1L1-related disorder [RCV003953870]\|not provided [RCV003093415]	benign\|likely benign\|uncertain significance	7	47881938	47881938	Human	2	name , trait , alternate_id
156269296	CV1915193	single nucleotide variant	NM_138295.5(PKD1L1):c.4751A>G (p.Asn1584Ser)	not provided [RCV002628034]	uncertain significance	7	47854990	47854990	Human		name
156391602	CV1964927	single nucleotide variant	NM_138295.5(PKD1L1):c.4379A>G (p.Asn1460Ser)	Inborn genetic diseases [RCV003164814]\|not provided [RCV002583924]	likely benign\|uncertain significance	7	47857816	47857816	Human	1	name
156195187	CV1970982	single nucleotide variant	NM_138295.5(PKD1L1):c.3437C>A (p.Ser1146Tyr)	not provided [RCV002625544]	uncertain significance	7	47881914	47881914	Human		name
156195304	CV1970993	single nucleotide variant	NM_138295.5(PKD1L1):c.7423C>T (p.His2475Tyr)	not provided [RCV002625547]	uncertain significance	7	47811975	47811975	Human		name
156416361	CV1976547	single nucleotide variant	NM_138295.5(PKD1L1):c.6656A>T (p.Glu2219Val)	not provided [RCV002589652]	uncertain significance	7	47829504	47829504	Human		name
156332232	CV1987291	single nucleotide variant	NM_138295.5(PKD1L1):c.8413G>C (p.Gly2805Arg)	not provided [RCV002630995]	uncertain significance	7	47792740	47792740	Human		name
156235988	CV2036540	single nucleotide variant	NM_138295.5(PKD1L1):c.3634T>C (p.Phe1212Leu)	not provided [RCV002805498]	uncertain significance	7	47877518	47877518	Human		name
156019078	CV2081289	single nucleotide variant	NM_138295.5(PKD1L1):c.8130G>C (p.Gln2710His)	PKD1L1-related disorder [RCV003973504]\|not provided [RCV002866512]	benign	7	47800712	47800712	Human	1	name , trait , alternate_id
156199926	CV2092446	single nucleotide variant	NM_138295.5(PKD1L1):c.5125G>C (p.Gly1709Arg)	not provided [RCV002917750]	uncertain significance	7	47846907	47846907	Human		name
155985210	CV2094791	single nucleotide variant	NM_138295.5(PKD1L1):c.3004A>C (p.Thr1002Pro)	PKD1L1-related disorder [RCV003916567]\|not provided [RCV002907889]	benign	7	47885887	47885887	Human	1	name , trait , alternate_id
156099090	CV2103064	single nucleotide variant	NM_138295.5(PKD1L1):c.7876T>C (p.Cys2626Arg)	Inborn genetic diseases [RCV002913333]\|PKD1L1-related disorder [RCV003943537]\|not provided [RCV002895937]	likely benign\|uncertain significance	7	47803296	47803296	Human	2	name , trait , alternate_id
156026688	CV2108797	single nucleotide variant	NM_138295.5(PKD1L1):c.5669G>A (p.Gly1890Asp)	Inborn genetic diseases [RCV004654054]\|not provided [RCV002909875]	uncertain significance	7	47839546	47839546	Human	1	name
156292613	CV2111483	single nucleotide variant	NM_138295.5(PKD1L1):c.7337G>A (p.Gly2446Asp)	not provided [RCV002922216]	uncertain significance	7	47813130	47813130	Human		name
156226902	CV2115404	single nucleotide variant	NM_138295.5(PKD1L1):c.3365G>A (p.Arg1122Lys)	not provided [RCV002932673]	benign	7	47881986	47881986	Human		name
156362121	CV2119559	single nucleotide variant	NM_138295.5(PKD1L1):c.3586A>G (p.Met1196Val)	Inborn genetic diseases [RCV004068234]\|not provided [RCV002967048]	likely benign\|uncertain significance	7	47877566	47877566	Human	1	name
156227168	CV2121861	single nucleotide variant	NM_138295.5(PKD1L1):c.7937C>G (p.Ser2646Ter)	not provided [RCV002958369]	pathogenic	7	47803235	47803235	Human		name
156028547	CV2125310	single nucleotide variant	NM_138295.5(PKD1L1):c.8103C>A (p.Cys2701Ter)	not provided [RCV002949122]	pathogenic	7	47800739	47800739	Human		name
156042484	CV2126937	single nucleotide variant	NM_138295.5(PKD1L1):c.5765G>T (p.Arg1922Leu)	Inborn genetic diseases [RCV004958891]\|PKD1L1-related disorder [RCV003961318]\|not provided [RCV002949676]	likely benign\|uncertain significance	7	47839450	47839450	Human	2	name , trait , alternate_id
156383431	CV2128221	single nucleotide variant	NM_138295.5(PKD1L1):c.3833C>T (p.Pro1278Leu)	not provided [RCV002943317]	benign	7	47873962	47873962	Human		name
155958487	CV2138125	single nucleotide variant	NM_138295.5(PKD1L1):c.7693G>A (p.Val2565Met)	Inborn genetic diseases [RCV004960862]\|PKD1L1-related disorder [RCV003427537]\|not provided [RCV002972260]	uncertain significance	7	47808381	47808381	Human	2	name , trait , alternate_id
156118419	CV2151415	single nucleotide variant	NM_138295.5(PKD1L1):c.8429T>G (p.Leu2810Arg)	not provided [RCV003002880]	uncertain significance	7	47792724	47792724	Human		name
155951888	CV2169662	single nucleotide variant	NM_138295.5(PKD1L1):c.5219A>G (p.Asp1740Gly)	not provided [RCV003014895]	uncertain significance	7	47845013	47845013	Human		name
156147258	CV2196943	single nucleotide variant	NM_138295.5(PKD1L1):c.3157C>T (p.Arg1053Cys)	Heterotaxy, visceral, 8, autosomal [RCV005399156]\|Inborn genetic diseases [RCV002641650]	uncertain significance	7	47885734	47885734	Human	2	name
156144491	CV2200165	single nucleotide variant	NM_138295.5(PKD1L1):c.3562A>G (p.Thr1188Ala)	Inborn genetic diseases [RCV002641483]	uncertain significance	7	47877590	47877590	Human	1	name
156081877	CV2205392	single nucleotide variant	NM_138295.5(PKD1L1):c.7966G>T (p.Val2656Leu)	Inborn genetic diseases [RCV002660840]	uncertain significance	7	47800876	47800876	Human	1	name
156379520	CV2217898	single nucleotide variant	NM_138295.5(PKD1L1):c.8144G>T (p.Cys2715Phe)	Inborn genetic diseases [RCV002678427]	uncertain significance	7	47800698	47800698	Human	1	name
155917447	CV2236554	single nucleotide variant	NM_138295.5(PKD1L1):c.3308C>A (p.Ala1103Asp)	Inborn genetic diseases [RCV002772502]	uncertain significance	7	47882043	47882043	Human	1	name
155916216	CV2239683	single nucleotide variant	NM_138295.5(PKD1L1):c.3238G>A (p.Ala1080Thr)	Inborn genetic diseases [RCV002772331]	uncertain significance	7	47884625	47884625	Human	1	name
155982964	CV2239935	single nucleotide variant	NM_138295.5(PKD1L1):c.7535T>A (p.Ile2512Asn)	Inborn genetic diseases [RCV002777883]	uncertain significance	7	47811863	47811863	Human	1	name
156107093	CV2257330	single nucleotide variant	NM_138295.5(PKD1L1):c.6224C>A (p.Ala2075Glu)	Inborn genetic diseases [RCV002799484]	uncertain significance	7	47833203	47833203	Human	1	name
156334910	CV2263529	single nucleotide variant	NM_138295.5(PKD1L1):c.4180A>C (p.Lys1394Gln)	Inborn genetic diseases [RCV002835632]	uncertain significance	7	47858855	47858855	Human	1	name
156257713	CV2264901	single nucleotide variant	NM_138295.5(PKD1L1):c.4204C>G (p.Gln1402Glu)	Inborn genetic diseases [RCV002831510]\|PKD1L1-related disorder [RCV004750323]	uncertain significance	7	47858831	47858831	Human	2	name , trait , alternate_id
156241758	CV2265817	single nucleotide variant	NM_138295.5(PKD1L1):c.3785T>C (p.Val1262Ala)	Inborn genetic diseases [RCV002830567]	uncertain significance	7	47874010	47874010	Human	1	name
156340912	CV2268189	single nucleotide variant	NM_138295.5(PKD1L1):c.6915T>G (p.Phe2305Leu)	Inborn genetic diseases [RCV002836290]	uncertain significance	7	47821126	47821126	Human	1	name
156022627	CV2273673	single nucleotide variant	NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)	Heterotaxy, visceral, 8, autosomal [RCV003135245]\|Inborn genetic diseases [RCV002844744]	uncertain significance	7	47808356	47808356	Human	2	name
156272403	CV2277500	single nucleotide variant	NM_138295.5(PKD1L1):c.4052C>G (p.Ala1351Gly)	Inborn genetic diseases [RCV002877672]\|not provided [RCV005099758]	uncertain significance	7	47866459	47866459	Human	1	name
156131625	CV2279972	single nucleotide variant	NM_138295.5(PKD1L1):c.7079C>T (p.Pro2360Leu)	Inborn genetic diseases [RCV002849733]	uncertain significance	7	47815344	47815344	Human	1	name
156140995	CV2280878	single nucleotide variant	NM_138295.5(PKD1L1):c.6911G>C (p.Arg2304Thr)	Inborn genetic diseases [RCV002850298]	uncertain significance	7	47821130	47821130	Human	1	name
155992947	CV2281266	single nucleotide variant	NM_138295.5(PKD1L1):c.8497G>A (p.Val2833Met)	Inborn genetic diseases [RCV002882594]	uncertain significance	7	47792656	47792656	Human	1	name
156261364	CV2282395	single nucleotide variant	NM_138295.5(PKD1L1):c.4391C>G (p.Thr1464Ser)	Inborn genetic diseases [RCV002831730]	uncertain significance	7	47857804	47857804	Human	1	name
156125358	CV2283627	single nucleotide variant	NM_138295.5(PKD1L1):c.3511G>A (p.Val1171Met)	Inborn genetic diseases [RCV002849339]	uncertain significance	7	47880737	47880737	Human	1	name
156005700	CV2290387	single nucleotide variant	NM_138295.5(PKD1L1):c.7031C>T (p.Thr2344Ile)	Inborn genetic diseases [RCV002883651]\|not provided [RCV003574995]	uncertain significance	7	47815392	47815392	Human	1	name
156276108	CV2290810	single nucleotide variant	NM_138295.5(PKD1L1):c.8025G>T (p.Trp2675Cys)	Inborn genetic diseases [RCV002896220]	uncertain significance	7	47800817	47800817	Human	1	name
156191962	CV2301851	single nucleotide variant	NM_138295.5(PKD1L1):c.6787T>C (p.Ser2263Pro)	Inborn genetic diseases [RCV002892595]	uncertain significance	7	47827417	47827417	Human	1	name
155971488	CV2309304	single nucleotide variant	NM_138295.5(PKD1L1):c.5675T>A (p.Phe1892Tyr)	Inborn genetic diseases [RCV002906968]	uncertain significance	7	47839540	47839540	Human	1	name
155968561	CV2312854	single nucleotide variant	NM_138295.5(PKD1L1):c.4111G>T (p.Val1371Phe)	Inborn genetic diseases [RCV002906713]	uncertain significance	7	47865254	47865254	Human	1	name
156158802	CV2322685	single nucleotide variant	NM_138295.5(PKD1L1):c.7894A>G (p.Ile2632Val)	Inborn genetic diseases [RCV002955118]	uncertain significance	7	47803278	47803278	Human	1	name
156159072	CV2322709	single nucleotide variant	NM_138295.5(PKD1L1):c.3394C>T (p.Pro1132Ser)	Inborn genetic diseases [RCV002955134]	uncertain significance	7	47881957	47881957	Human	1	name
156395737	CV2325893	single nucleotide variant	NM_138295.5(PKD1L1):c.5777A>G (p.Tyr1926Cys)	Inborn genetic diseases [RCV002944671]	uncertain significance	7	47837087	47837087	Human	1	name
156183414	CV2339309	single nucleotide variant	NM_138295.5(PKD1L1):c.4487C>T (p.Ala1496Val)	Inborn genetic diseases [RCV002956537]	uncertain significance	7	47857708	47857708	Human	1	name
156069371	CV2341120	single nucleotide variant	NM_138295.5(PKD1L1):c.4949C>T (p.Ala1650Val)	Inborn genetic diseases [RCV002951152]	likely benign	7	47853138	47853138	Human	1	name
156329913	CV2342475	single nucleotide variant	NM_138295.5(PKD1L1):c.3967A>G (p.Ile1323Val)	Inborn genetic diseases [RCV002964047]	uncertain significance	7	47866544	47866544	Human	1	name
156219448	CV2344897	single nucleotide variant	NM_138295.5(PKD1L1):c.3043G>A (p.Gly1015Arg)	Inborn genetic diseases [RCV002986033]\|PKD1L1-related disorder [RCV003395673]	uncertain significance	7	47885848	47885848	Human	2	name , trait , alternate_id
155905467	CV2349770	single nucleotide variant	NM_138295.5(PKD1L1):c.4777G>A (p.Glu1593Lys)	Inborn genetic diseases [RCV002990411]	uncertain significance	7	47854964	47854964	Human	1	name
156126542	CV2350299	single nucleotide variant	NM_138295.5(PKD1L1):c.5378C>T (p.Pro1793Leu)	Heterotaxy, visceral, 8, autosomal [RCV003135263]\|Inborn genetic diseases [RCV002981577]	uncertain significance	7	47843029	47843029	Human	2	name
156277653	CV2352084	single nucleotide variant	NM_138295.5(PKD1L1):c.7637T>C (p.Met2546Thr)	Inborn genetic diseases [RCV002989175]	uncertain significance	7	47809522	47809522	Human	1	name
156105207	CV2352516	single nucleotide variant	NM_138295.5(PKD1L1):c.7729G>A (p.Gly2577Ser)	Inborn genetic diseases [RCV002980241]	likely benign	7	47808345	47808345	Human	1	name
156003503	CV2357463	single nucleotide variant	NM_138295.5(PKD1L1):c.4154G>A (p.Gly1385Asp)	Inborn genetic diseases [RCV002997186]	uncertain significance	7	47858881	47858881	Human	1	name
156104675	CV2361034	single nucleotide variant	NM_138295.5(PKD1L1):c.3863G>A (p.Arg1288His)	Inborn genetic diseases [RCV002662195]	uncertain significance	7	47873932	47873932	Human	1	name
155930617	CV2361198	single nucleotide variant	NM_138295.5(PKD1L1):c.4337T>A (p.Ile1446Asn)	Inborn genetic diseases [RCV002684113]\|PKD1L1-related disorder [RCV003954028]	uncertain significance	7	47858698	47858698	Human	2	name , trait , alternate_id
156282141	CV2363101	single nucleotide variant	NM_138295.5(PKD1L1):c.6115G>A (p.Glu2039Lys)	Inborn genetic diseases [RCV002670220]\|not provided [RCV005256897]	uncertain significance	7	47834979	47834979	Human	1	name
11541253	CV236892	single nucleotide variant	NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	Heterotaxy, visceral, 8, autosomal [RCV000412500]\|Inborn genetic diseases [RCV005384678]\|Situs inversus [RCV000240830]	pathogenic\|likely pathogenic\|uncertain significance	7	47846960	47846960	Human	4	name
156138010	CV2374186	single nucleotide variant	NM_138295.5(PKD1L1):c.4105G>A (p.Gly1369Ser)	Inborn genetic diseases [RCV002708889]	uncertain significance	7	47865260	47865260	Human	1	name
155902363	CV2378503	single nucleotide variant	NM_138295.5(PKD1L1):c.8325G>T (p.Lys2775Asn)	Inborn genetic diseases [RCV002748912]	uncertain significance	7	47796019	47796019	Human	1	name
156346689	CV2382784	single nucleotide variant	NM_138295.5(PKD1L1):c.5180T>A (p.Leu1727His)	Inborn genetic diseases [RCV002675104]	uncertain significance	7	47845052	47845052	Human	1	name
156111674	CV2387835	single nucleotide variant	NM_138295.5(PKD1L1):c.7648G>A (p.Val2550Ile)	Inborn genetic diseases [RCV002739755]\|PKD1L1-related disorder [RCV003963789]	likely benign\|uncertain significance	7	47809511	47809511	Human	2	name , trait , alternate_id
156001349	CV2391895	single nucleotide variant	NM_138295.5(PKD1L1):c.5401G>A (p.Val1801Ile)	Inborn genetic diseases [RCV002779422]	uncertain significance	7	47843006	47843006	Human	1	name
156114451	CV2397177	single nucleotide variant	NM_138295.5(PKD1L1):c.3671A>T (p.His1224Leu)	Inborn genetic diseases [RCV002739929]\|not provided [RCV003548973]	uncertain significance	7	47876210	47876210	Human	1	name
155909460	CV2397800	single nucleotide variant	NM_138295.5(PKD1L1):c.8246A>C (p.Lys2749Thr)	Inborn genetic diseases [RCV002749987]	uncertain significance	7	47796098	47796098	Human	1	name
243059445	CV2406185	single nucleotide variant	NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)	Heterotaxy, visceral, 8, autosomal [RCV003134931]\|Inborn genetic diseases [RCV004961209]	uncertain significance	7	47800783	47800783	Human	2	name
243055597	CV2406187	single nucleotide variant	NM_138295.5(PKD1L1):c.6848C>T (p.Ala2283Val)	Heterotaxy, visceral, 8, autosomal [RCV003131970]	uncertain significance	7	47827356	47827356	Human	1	name
243050142	CV2415393	single nucleotide variant	NM_138295.5(PKD1L1):c.3818G>T (p.Gly1273Val)	Heterotaxy, visceral, 8, autosomal [RCV003147909]	uncertain significance	7	47873977	47873977	Human	1	name
329350615	CV2421746	single nucleotide variant	NM_138295.5(PKD1L1):c.6938A>G (p.Asn2313Ser)	not provided [RCV003159449]	uncertain significance	7	47821103	47821103	Human		name
329358816	CV2425392	single nucleotide variant	NM_138295.5(PKD1L1):c.5980A>G (p.Arg1994Gly)	Inborn genetic diseases [RCV003179114]	uncertain significance	7	47835207	47835207	Human	1	name
329367975	CV2427657	single nucleotide variant	NM_138295.5(PKD1L1):c.6830A>G (p.Glu2277Gly)	Inborn genetic diseases [RCV003183475]	uncertain significance	7	47827374	47827374	Human	1	name
329384317	CV2435023	single nucleotide variant	NM_138295.5(PKD1L1):c.6668G>A (p.Arg2223His)	Inborn genetic diseases [RCV003189011]	uncertain significance	7	47829492	47829492	Human	1	name
329387535	CV2436535	single nucleotide variant	NM_138295.5(PKD1L1):c.7844G>A (p.Arg2615Gln)	Inborn genetic diseases [RCV003190156]	likely benign	7	47803328	47803328	Human	1	name
329365827	CV2441133	single nucleotide variant	NM_138295.5(PKD1L1):c.3070G>T (p.Asp1024Tyr)	Inborn genetic diseases [RCV003207412]	uncertain significance	7	47885821	47885821	Human	1	name
329391196	CV2447775	single nucleotide variant	NM_138295.5(PKD1L1):c.6434C>T (p.Ser2145Phe)	Inborn genetic diseases [RCV003191985]	uncertain significance	7	47831256	47831256	Human	1	name
329391442	CV2448562	single nucleotide variant	NM_138295.5(PKD1L1):c.3292G>A (p.Gly1098Arg)	Inborn genetic diseases [RCV003192142]	uncertain significance	7	47882059	47882059	Human	1	name
329358912	CV2450748	single nucleotide variant	NM_138295.5(PKD1L1):c.5099A>G (p.Lys1700Arg)	Inborn genetic diseases [RCV003204218]	uncertain significance	7	47846933	47846933	Human	1	name
329376937	CV2455169	single nucleotide variant	NM_138295.5(PKD1L1):c.5471A>G (p.Asn1824Ser)	Inborn genetic diseases [RCV003211660]	uncertain significance	7	47840542	47840542	Human	1	name
329377382	CV2457141	single nucleotide variant	NM_138295.5(PKD1L1):c.7409G>C (p.Arg2470Thr)	Inborn genetic diseases [RCV003186313]	uncertain significance	7	47811989	47811989	Human	1	name
329398043	CV2464721	single nucleotide variant	NM_138295.5(PKD1L1):c.6250C>A (p.Pro2084Thr)	Inborn genetic diseases [RCV003220294]	uncertain significance	7	47833177	47833177	Human	1	name
329398311	CV2465004	single nucleotide variant	NM_138295.5(PKD1L1):c.4837T>C (p.Phe1613Leu)	Inborn genetic diseases [RCV003220437]	uncertain significance	7	47854904	47854904	Human	1	name
329397024	CV2468423	single nucleotide variant	NM_138295.5(PKD1L1):c.7147A>C (p.Lys2383Gln)	Inborn genetic diseases [RCV003219829]	uncertain significance	7	47813957	47813957	Human	1	name
329363492	CV2471669	single nucleotide variant	NM_138295.5(PKD1L1):c.8489G>A (p.Ser2830Asn)	Inborn genetic diseases [RCV003206425]	uncertain significance	7	47792664	47792664	Human	1	name
329954664	CV2670605	single nucleotide variant	NM_138295.5(PKD1L1):c.4337T>C (p.Ile1446Thr)	not provided [RCV003235872]	uncertain significance	7	47858698	47858698	Human		name
401726972	CV2684413	single nucleotide variant	NM_138295.5(PKD1L1):c.4261G>A (p.Gly1421Ser)	Inborn genetic diseases [RCV003269818]	uncertain significance	7	47858774	47858774	Human	1	name
401734455	CV2688512	single nucleotide variant	NM_138295.5(PKD1L1):c.3569A>G (p.Asn1190Ser)	Inborn genetic diseases [RCV003290779]	uncertain significance	7	47877583	47877583	Human	1	name
401769386	CV2689690	single nucleotide variant	NM_138295.5(PKD1L1):c.7508C>T (p.Pro2503Leu)	Inborn genetic diseases [RCV003260519]	uncertain significance	7	47811890	47811890	Human	1	name
401776023	CV2692573	single nucleotide variant	NM_138295.5(PKD1L1):c.8018C>T (p.Ser2673Phe)	Inborn genetic diseases [RCV003286292]\|PKD1L1-related disorder [RCV004725705]	uncertain significance	7	47800824	47800824	Human	2	name , trait , alternate_id
401729013	CV2693991	single nucleotide variant	NM_138295.5(PKD1L1):c.8006G>A (p.Arg2669Gln)	Inborn genetic diseases [RCV003270799]	uncertain significance	7	47800836	47800836	Human	1	name
401761909	CV2699453	single nucleotide variant	NM_138295.5(PKD1L1):c.3382A>G (p.Met1128Val)	Inborn genetic diseases [RCV003281015]	uncertain significance	7	47881969	47881969	Human	1	name
401750461	CV2701268	single nucleotide variant	NM_138295.5(PKD1L1):c.7220G>A (p.Cys2407Tyr)	Inborn genetic diseases [RCV003276750]	uncertain significance	7	47813247	47813247	Human	1	name
401774314	CV2702730	single nucleotide variant	NM_138295.5(PKD1L1):c.8123C>G (p.Ser2708Cys)	Inborn genetic diseases [RCV003262506]	uncertain significance	7	47800719	47800719	Human	1	name
401758412	CV2704495	single nucleotide variant	NM_138295.5(PKD1L1):c.7730G>A (p.Gly2577Asp)	Inborn genetic diseases [RCV003256404]	uncertain significance	7	47808344	47808344	Human	1	name
401761721	CV2713863	single nucleotide variant	NM_138295.5(PKD1L1):c.6913T>C (p.Phe2305Leu)	Inborn genetic diseases [RCV003257655]	uncertain significance	7	47821128	47821128	Human	1	name
401782841	CV2716005	single nucleotide variant	NM_138295.5(PKD1L1):c.6020C>A (p.Ala2007Asp)	Inborn genetic diseases [RCV003309191]	uncertain significance	7	47835167	47835167	Human	1	name
401749503	CV2719313	single nucleotide variant	NM_138295.5(PKD1L1):c.6355G>A (p.Glu2119Lys)	Inborn genetic diseases [RCV003294904]	uncertain significance	7	47831335	47831335	Human	1	name
401798731	CV2739459	single nucleotide variant	NM_138295.5(PKD1L1):c.8131C>T (p.Arg2711Trp)	PKD1L1-related disorder [RCV003919049]\|not provided [RCV003319107]	likely benign\|uncertain significance	7	47800711	47800711	Human	1	name , trait , alternate_id
401828080	CV2744450	single nucleotide variant	NM_138295.5(PKD1L1):c.7417T>C (p.Ser2473Pro)	not provided [RCV003327847]	uncertain significance	7	47811981	47811981	Human		name
401875344	CV2749917	single nucleotide variant	NM_138295.5(PKD1L1):c.3994C>T (p.Arg1332Cys)	Heterotaxy, visceral, 8, autosomal [RCV003333322]\|PKD1L1-related disorder [RCV003966320]	uncertain significance	7	47866517	47866517	Human	1	name , trait , alternate_id
401855532	CV2757341	single nucleotide variant	NM_138295.5(PKD1L1):c.5168C>T (p.Ala1723Val)	Inborn genetic diseases [RCV003339384]	uncertain significance	7	47845064	47845064	Human	1	name
401888481	CV2761508	single nucleotide variant	NM_138295.5(PKD1L1):c.3079G>A (p.Val1027Ile)	Inborn genetic diseases [RCV003353315]\|PKD1L1-related disorder [RCV004750370]\|not provided [RCV004763659]	uncertain significance	7	47885812	47885812	Human	2	name , trait , alternate_id
401884394	CV2761711	single nucleotide variant	NM_138295.5(PKD1L1):c.7990C>G (p.Leu2664Val)	Inborn genetic diseases [RCV003366170]	uncertain significance	7	47800852	47800852	Human	1	name
401886340	CV2771181	single nucleotide variant	NM_138295.5(PKD1L1):c.7361C>T (p.Thr2454Ile)	Inborn genetic diseases [RCV003351949]	uncertain significance	7	47812037	47812037	Human	1	name
401911952	CV2795949	single nucleotide variant	NM_138295.5(PKD1L1):c.8342T>C (p.Met2781Thr)	PKD1L1-related disorder [RCV003399685]	uncertain significance	7	47796002	47796002	Human		name , trait , alternate_id
401936133	CV2796290	single nucleotide variant	NM_138295.5(PKD1L1):c.7916G>C (p.Cys2639Ser)	Inborn genetic diseases [RCV004362795]\|PKD1L1-related disorder [RCV003414104]	uncertain significance	7	47803256	47803256	Human	2	name , trait , alternate_id
401936147	CV2796320	single nucleotide variant	NM_138295.5(PKD1L1):c.7838G>A (p.Trp2613Ter)	PKD1L1-related disorder [RCV003414118]	likely pathogenic	7	47803334	47803334	Human		name , trait , alternate_id
401937990	CV2797350	single nucleotide variant	NM_138295.5(PKD1L1):c.7545C>A (p.Ser2515Arg)	PKD1L1-related disorder [RCV003417089]	uncertain significance	7	47811853	47811853	Human		name , trait , alternate_id
401913506	CV2797368	single nucleotide variant	NM_138295.5(PKD1L1):c.3739T>G (p.Tyr1247Asp)	Inborn genetic diseases [RCV004362846]\|PKD1L1-related disorder [RCV003427869]	uncertain significance	7	47876142	47876142	Human	2	name , trait , alternate_id
401919393	CV2798279	single nucleotide variant	NM_138295.5(PKD1L1):c.5835G>T (p.Arg1945Ser)	Inborn genetic diseases [RCV004961277]\|PKD1L1-related disorder [RCV003402301]	uncertain significance	7	47837029	47837029	Human	2	name , trait , alternate_id
401909299	CV2798530	single nucleotide variant	NM_138295.5(PKD1L1):c.4470T>G (p.His1490Gln)	PKD1L1-related disorder [RCV003397668]	uncertain significance	7	47857725	47857725	Human		name , trait , alternate_id
401907265	CV2802338	single nucleotide variant	NM_138295.5(PKD1L1):c.6385C>T (p.Leu2129Phe)	PKD1L1-related disorder [RCV003422514]	uncertain significance	7	47831305	47831305	Human		name , trait , alternate_id
401933916	CV2802400	single nucleotide variant	NM_138295.5(PKD1L1):c.6466G>T (p.Ala2156Ser)	PKD1L1-related disorder [RCV003410796]	uncertain significance	7	47831224	47831224	Human		name , trait , alternate_id
401906135	CV2802473	single nucleotide variant	NM_138295.5(PKD1L1):c.7342A>T (p.Thr2448Ser)	PKD1L1-related disorder [RCV003421078]	uncertain significance	7	47813125	47813125	Human		name , trait , alternate_id
401933450	CV2804075	single nucleotide variant	NM_138295.5(PKD1L1):c.6961A>T (p.Thr2321Ser)	PKD1L1-related disorder [RCV003392828]	uncertain significance	7	47821080	47821080	Human		name , trait , alternate_id
401921310	CV2804530	single nucleotide variant	NM_138295.5(PKD1L1):c.6932C>G (p.Ser2311Cys)	PKD1L1-related disorder [RCV003402911]	uncertain significance	7	47821109	47821109	Human		name , trait , alternate_id
401907199	CV2804855	single nucleotide variant	NM_138295.5(PKD1L1):c.4465G>C (p.Val1489Leu)	PKD1L1-related disorder [RCV003422480]	uncertain significance	7	47857730	47857730	Human		name , trait , alternate_id
401908752	CV2828455	single nucleotide variant	NM_138295.5(PKD1L1):c.5879C>A (p.Ser1960Tyr)	not provided [RCV003423571]	uncertain significance	7	47836985	47836985	Human		name
401916527	CV2831149	single nucleotide variant	NM_138295.5(PKD1L1):c.4940T>A (p.Ile1647Lys)	not provided [RCV003443418]	uncertain significance	7	47853147	47853147	Human		name
405867022	CV2842533	single nucleotide variant	NM_138295.5(PKD1L1):c.5036C>T (p.Ala1679Val)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557890]	likely benign	7	47846996	47846996	Human		name
405161097	CV2899309	single nucleotide variant	NM_138295.5(PKD1L1):c.8209A>G (p.Met2737Val)	Inborn genetic diseases [RCV004369280]\|not provided [RCV003562369]	uncertain significance	7	47796135	47796135	Human	1	name
405161001	CV2899310	single nucleotide variant	NM_138295.5(PKD1L1):c.3386T>C (p.Ile1129Thr)	Inborn genetic diseases [RCV004369281]\|PKD1L1-related disorder [RCV004750392]\|not provided [RCV003562370]	uncertain significance	7	47881965	47881965	Human	2	name , trait , alternate_id
405066917	CV2923673	single nucleotide variant	NM_138295.5(PKD1L1):c.3539T>G (p.Leu1180Arg)	not provided [RCV003580812]	uncertain significance	7	47877613	47877613	Human		name
405006266	CV2929559	single nucleotide variant	NM_138295.5(PKD1L1):c.3065C>T (p.Ala1022Val)	Inborn genetic diseases [RCV004371448]\|PKD1L1-related disorder [RCV003956443]\|not provided [RCV003576360]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	47885826	47885826	Human	2	name , trait , alternate_id
405224479	CV2979320	single nucleotide variant	NM_138295.5(PKD1L1):c.7162C>G (p.His2388Asp)	Inborn genetic diseases [RCV004371725]\|not provided [RCV003681188]	likely benign\|uncertain significance	7	47813942	47813942	Human	1	name
405052154	CV3025660	single nucleotide variant	NM_138295.5(PKD1L1):c.7787G>T (p.Arg2596Leu)	not provided [RCV003697019]	likely benign	7	47808287	47808287	Human		name
405192045	CV3069692	single nucleotide variant	NM_138295.5(PKD1L1):c.7140G>T (p.Arg2380Ser)	PKD1L1-related disorder [RCV003956539]\|not provided [RCV003729595]	benign\|likely benign	7	47813964	47813964	Human	1	name , trait , alternate_id
405231300	CV3070604	single nucleotide variant	NM_138295.5(PKD1L1):c.3889G>A (p.Glu1297Lys)	PKD1L1-related disorder [RCV003909134]\|not provided [RCV003734951]	likely benign	7	47873906	47873906	Human	1	name , trait , alternate_id
405154746	CV3081249	single nucleotide variant	NM_138295.5(PKD1L1):c.6748C>T (p.Arg2250Ter)	Heterotaxy, visceral, 8, autosomal [RCV003756648]	likely pathogenic	7	47827456	47827456	Human	1	name
405060172	CV3129482	single nucleotide variant	NM_138295.5(PKD1L1):c.4128C>A (p.Asp1376Glu)	not provided [RCV003832751]	uncertain significance	7	47865237	47865237	Human		name
405194722	CV3167686	single nucleotide variant	NM_138295.5(PKD1L1):c.6199G>A (p.Gly2067Arg)	not provided [RCV003860092]	uncertain significance	7	47833228	47833228	Human		name
402469656	CV3174716	single nucleotide variant	NM_138295.5(PKD1L1):c.8138T>C (p.Met2713Thr)	Inborn genetic diseases [RCV004369606]\|not provided [RCV003873826]	likely benign\|uncertain significance	7	47800704	47800704	Human	1	name
405260215	CV3190216	single nucleotide variant	NM_138295.5(PKD1L1):c.6587G>A (p.Trp2196Ter)	PKD1L1-related disorder [RCV003894617]	likely pathogenic	7	47829573	47829573	Human		name , trait , alternate_id
405286229	CV3192737	single nucleotide variant	NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)	Heterotaxy, visceral, 8, autosomal [RCV004560328]\|PKD1L1-related disorder [RCV003981486]	uncertain significance	7	47800710	47800710	Human	1	name , trait , alternate_id
405277426	CV3195801	single nucleotide variant	NM_138295.5(PKD1L1):c.3401C>T (p.Ala1134Val)	PKD1L1-related disorder [RCV003904333]	uncertain significance	7	47881950	47881950	Human		name , trait , alternate_id
405277552	CV3195881	single nucleotide variant	NM_138295.5(PKD1L1):c.7519G>A (p.Val2507Met)	Inborn genetic diseases [RCV004369770]\|PKD1L1-related disorder [RCV003904408]	uncertain significance	7	47811879	47811879	Human	2	name , trait , alternate_id
405273416	CV3197757	single nucleotide variant	NM_138295.5(PKD1L1):c.6383C>A (p.Ala2128Asp)	PKD1L1-related disorder [RCV003901723]\|not provided [RCV005101537]	likely benign	7	47831307	47831307	Human	1	name , trait , alternate_id
405274593	CV3208982	single nucleotide variant	NM_138295.5(PKD1L1):c.7060A>G (p.Thr2354Ala)	PKD1L1-related disorder [RCV003951753]	likely benign	7	47815363	47815363	Human		name , trait , alternate_id
405285304	CV3212345	single nucleotide variant	NM_138295.5(PKD1L1):c.7052C>T (p.Pro2351Leu)	Inborn genetic diseases [RCV005387296]\|PKD1L1-related disorder [RCV003958960]	likely benign\|uncertain significance	7	47815371	47815371	Human	2	name , trait , alternate_id
405286934	CV3213832	single nucleotide variant	NM_138295.5(PKD1L1):c.7706G>C (p.Ser2569Thr)	Inborn genetic diseases [RCV004953653]\|PKD1L1-related disorder [RCV003924228]	likely benign\|uncertain significance	7	47808368	47808368	Human	2	name , trait , alternate_id
405282912	CV3216908	single nucleotide variant	NM_138295.5(PKD1L1):c.5366A>G (p.Glu1789Gly)	PKD1L1-related disorder [RCV003979071]	uncertain significance	7	47843041	47843041	Human		name , trait , alternate_id
405279307	CV3217463	single nucleotide variant	NM_138295.5(PKD1L1):c.4408C>T (p.Arg1470Trp)	PKD1L1-related disorder [RCV003976872]\|not provided [RCV005054480]	uncertain significance	7	47857787	47857787	Human	1	name , trait , alternate_id
405289508	CV3218318	single nucleotide variant	NM_138295.5(PKD1L1):c.6686C>G (p.Pro2229Arg)	PKD1L1-related disorder [RCV003983720]	uncertain significance	7	47829474	47829474	Human		name , trait , alternate_id
405261389	CV3221514	single nucleotide variant	NM_138295.5(PKD1L1):c.8048C>G (p.Thr2683Arg)	PKD1L1-related disorder [RCV003966985]	likely benign	7	47800794	47800794	Human		name , trait , alternate_id
405256319	CV3222589	single nucleotide variant	NM_138295.5(PKD1L1):c.6549G>T (p.Gln2183His)	Congenital chylothorax [RCV003986094]	uncertain significance	7	47830049	47830049	Human	1	name
405282116	CV3224731	single nucleotide variant	NM_138295.5(PKD1L1):c.7011G>A (p.Trp2337Ter)	Heterotaxy, visceral, 8, autosomal [RCV003989068]	likely pathogenic	7	47815412	47815412	Human	1	name
405727272	CV3235255	single nucleotide variant	NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)	Situs inversus [RCV004018286]	likely pathogenic	7	47808249	47808249	Human	2	name
405799695	CV3365337	single nucleotide variant	NM_138295.5(PKD1L1):c.6244G>T (p.Ala2082Ser)	Inborn genetic diseases [RCV004508847]	uncertain significance	7	47833183	47833183	Human	1	name
405799705	CV3365340	single nucleotide variant	NM_138295.5(PKD1L1):c.7073G>A (p.Arg2358His)	Inborn genetic diseases [RCV004508850]	uncertain significance	7	47815350	47815350	Human	1	name
405799709	CV3365341	single nucleotide variant	NM_138295.5(PKD1L1):c.7087C>G (p.Gln2363Glu)	Inborn genetic diseases [RCV004508851]	uncertain significance	7	47815336	47815336	Human	1	name
405799712	CV3365342	single nucleotide variant	NM_138295.5(PKD1L1):c.7429A>G (p.Thr2477Ala)	Inborn genetic diseases [RCV004508852]	uncertain significance	7	47811969	47811969	Human	1	name
405799722	CV3365345	single nucleotide variant	NM_138295.5(PKD1L1):c.8062G>A (p.Gly2688Arg)	Inborn genetic diseases [RCV004508855]	uncertain significance	7	47800780	47800780	Human	1	name
405799725	CV3365346	single nucleotide variant	NM_138295.5(PKD1L1):c.8104C>T (p.Leu2702Phe)	Inborn genetic diseases [RCV004508856]\|PKD1L1-related disorder [RCV004750475]	likely benign\|uncertain significance	7	47800738	47800738	Human	2	name , trait , alternate_id
405750002	CV3369200	single nucleotide variant	NM_138295.5(PKD1L1):c.3076G>A (p.Ala1026Thr)	Inborn genetic diseases [RCV004498931]	uncertain significance	7	47885815	47885815	Human	1	name
405749990	CV3369202	single nucleotide variant	NM_138295.5(PKD1L1):c.3542G>C (p.Gly1181Ala)	Inborn genetic diseases [RCV004498933]	uncertain significance	7	47877610	47877610	Human	1	name
405799661	CV3369204	single nucleotide variant	NM_138295.5(PKD1L1):c.3734C>T (p.Thr1245Ile)	Inborn genetic diseases [RCV004508836]	uncertain significance	7	47876147	47876147	Human	1	name
405799664	CV3369205	single nucleotide variant	NM_138295.5(PKD1L1):c.4198C>T (p.Leu1400Phe)	Inborn genetic diseases [RCV004508837]	uncertain significance	7	47858837	47858837	Human	1	name
405799667	CV3369206	single nucleotide variant	NM_138295.5(PKD1L1):c.4244T>G (p.Val1415Gly)	Inborn genetic diseases [RCV004508838]	uncertain significance	7	47858791	47858791	Human	1	name
405799670	CV3369207	single nucleotide variant	NM_138295.5(PKD1L1):c.4322G>A (p.Arg1441Gln)	Inborn genetic diseases [RCV004508839]	uncertain significance	7	47858713	47858713	Human	1	name
405799673	CV3369208	single nucleotide variant	NM_138295.5(PKD1L1):c.4414C>G (p.Leu1472Val)	Inborn genetic diseases [RCV004508840]	uncertain significance	7	47857781	47857781	Human	1	name
405799676	CV3369209	single nucleotide variant	NM_138295.5(PKD1L1):c.4843G>A (p.Val1615Ile)	Inborn genetic diseases [RCV004508841]	uncertain significance	7	47854898	47854898	Human	1	name
405799679	CV3369210	single nucleotide variant	NM_138295.5(PKD1L1):c.5416T>G (p.Phe1806Val)	Inborn genetic diseases [RCV004508842]	uncertain significance	7	47842991	47842991	Human	1	name
405799686	CV3369212	single nucleotide variant	NM_138295.5(PKD1L1):c.5867G>A (p.Arg1956His)	Inborn genetic diseases [RCV004508844]\|not provided [RCV005065167]	uncertain significance	7	47836997	47836997	Human	1	name
405873507	CV3398594	single nucleotide variant	NM_138295.5(PKD1L1):c.3919C>T (p.Leu1307Phe)	not provided [RCV004576090]	uncertain significance	7	47866592	47866592	Human		name
407456649	CV3415944	single nucleotide variant	NM_138295.5(PKD1L1):c.4427A>G (p.Asn1476Ser)	not provided [RCV004598821]	uncertain significance	7	47857768	47857768	Human		name
407512393	CV3460349	single nucleotide variant	NM_138295.5(PKD1L1):c.5090G>A (p.Arg1697Lys)	Inborn genetic diseases [RCV004648390]	uncertain significance	7	47846942	47846942	Human	1	name
407530959	CV3460350	single nucleotide variant	NM_138295.5(PKD1L1):c.7417T>A (p.Ser2473Thr)	Inborn genetic diseases [RCV004657329]	uncertain significance	7	47811981	47811981	Human	1	name
407530961	CV3460351	single nucleotide variant	NM_138295.5(PKD1L1):c.7879G>A (p.Val2627Ile)	Inborn genetic diseases [RCV004657330]\|PKD1L1-related disorder [RCV004750488]	likely benign\|uncertain significance	7	47803293	47803293	Human	2	name , trait , alternate_id
407530963	CV3460352	single nucleotide variant	NM_138295.5(PKD1L1):c.6988G>A (p.Gly2330Ser)	Inborn genetic diseases [RCV004657331]	uncertain significance	7	47815435	47815435	Human	1	name
407530964	CV3460353	single nucleotide variant	NM_138295.5(PKD1L1):c.7135A>G (p.Ile2379Val)	Inborn genetic diseases [RCV004657332]	uncertain significance	7	47813969	47813969	Human	1	name
407512396	CV3460354	single nucleotide variant	NM_138295.5(PKD1L1):c.4508C>T (p.Ala1503Val)	Inborn genetic diseases [RCV004648391]	uncertain significance	7	47857687	47857687	Human	1	name
407530966	CV3460355	single nucleotide variant	NM_138295.5(PKD1L1):c.8424C>G (p.Asp2808Glu)	Inborn genetic diseases [RCV004657333]	uncertain significance	7	47792729	47792729	Human	1	name
407512398	CV3460356	single nucleotide variant	NM_138295.5(PKD1L1):c.4243G>C (p.Val1415Leu)	Inborn genetic diseases [RCV004648392]	likely benign	7	47858792	47858792	Human	1	name
407530967	CV3460357	single nucleotide variant	NM_138295.5(PKD1L1):c.3023C>A (p.Thr1008Asn)	Inborn genetic diseases [RCV004657334]	uncertain significance	7	47885868	47885868	Human	1	name
407512400	CV3460358	single nucleotide variant	NM_138295.5(PKD1L1):c.4056A>C (p.Leu1352Phe)	Inborn genetic diseases [RCV004648393]	uncertain significance	7	47866455	47866455	Human	1	name
407512401	CV3460359	single nucleotide variant	NM_138295.5(PKD1L1):c.3224G>A (p.Ser1075Asn)	Inborn genetic diseases [RCV004648394]	uncertain significance	7	47884639	47884639	Human	1	name
407530969	CV3460360	single nucleotide variant	NM_138295.5(PKD1L1):c.6851T>A (p.Leu2284Gln)	Inborn genetic diseases [RCV004657335]	uncertain significance	7	47827353	47827353	Human	1	name
407512404	CV3460361	single nucleotide variant	NM_138295.5(PKD1L1):c.7840C>T (p.Leu2614Phe)	Inborn genetic diseases [RCV004648395]	uncertain significance	7	47803332	47803332	Human	1	name
407530970	CV3460363	single nucleotide variant	NM_138295.5(PKD1L1):c.6223G>A (p.Ala2075Thr)	Inborn genetic diseases [RCV004657336]	uncertain significance	7	47833204	47833204	Human	1	name
407512408	CV3460364	single nucleotide variant	NM_138295.5(PKD1L1):c.8405A>G (p.Lys2802Arg)	Inborn genetic diseases [RCV004648397]	uncertain significance	7	47792748	47792748	Human	1	name
407512411	CV3460366	single nucleotide variant	NM_138295.5(PKD1L1):c.4571G>A (p.Gly1524Glu)	Inborn genetic diseases [RCV004648398]	uncertain significance	7	47857624	47857624	Human	1	name
407512412	CV3460367	single nucleotide variant	NM_138295.5(PKD1L1):c.5470A>G (p.Asn1824Asp)	Inborn genetic diseases [RCV004648399]	uncertain significance	7	47840543	47840543	Human	1	name
407512415	CV3460368	single nucleotide variant	NM_138295.5(PKD1L1):c.7858T>G (p.Phe2620Val)	Inborn genetic diseases [RCV004648400]	uncertain significance	7	47803314	47803314	Human	1	name
407530972	CV3460370	single nucleotide variant	NM_138295.5(PKD1L1):c.6787T>G (p.Ser2263Ala)	Inborn genetic diseases [RCV004657338]	uncertain significance	7	47827417	47827417	Human	1	name
407530974	CV3460372	single nucleotide variant	NM_138295.5(PKD1L1):c.7937C>T (p.Ser2646Leu)	Inborn genetic diseases [RCV004657339]	uncertain significance	7	47803235	47803235	Human	1	name
407512422	CV3460373	single nucleotide variant	NM_138295.5(PKD1L1):c.6578G>A (p.Gly2193Asp)	Inborn genetic diseases [RCV004648403]	uncertain significance	7	47829582	47829582	Human	1	name
407530975	CV3460374	single nucleotide variant	NM_138295.5(PKD1L1):c.7415T>C (p.Val2472Ala)	Inborn genetic diseases [RCV004657340]	uncertain significance	7	47811983	47811983	Human	1	name
407530980	CV3460378	single nucleotide variant	NM_138295.5(PKD1L1):c.4674G>A (p.Met1558Ile)	Inborn genetic diseases [RCV004657344]	uncertain significance	7	47855182	47855182	Human	1	name
407530982	CV3460379	single nucleotide variant	NM_138295.5(PKD1L1):c.5861C>T (p.Thr1954Met)	Inborn genetic diseases [RCV004657345]	uncertain significance	7	47837003	47837003	Human	1	name
407530983	CV3460380	single nucleotide variant	NM_138295.5(PKD1L1):c.7043G>A (p.Gly2348Asp)	Inborn genetic diseases [RCV004657346]	uncertain significance	7	47815380	47815380	Human	1	name
408382301	CV3504420	single nucleotide variant	NM_138295.5(PKD1L1):c.5561C>T (p.Ala1854Val)	PKD1L1-related disorder [RCV004729752]	uncertain significance	7	47839654	47839654	Human		name , trait , alternate_id
408375570	CV3509821	single nucleotide variant	NM_138295.5(PKD1L1):c.3532G>A (p.Gly1178Ser)	PKD1L1-related disorder [RCV004748139]	uncertain significance	7	47877620	47877620	Human		name , trait , alternate_id
408375635	CV3510054	single nucleotide variant	NM_138295.5(PKD1L1):c.7465G>A (p.Val2489Met)	PKD1L1-related disorder [RCV004748165]	uncertain significance	7	47811933	47811933	Human		name , trait , alternate_id
408375792	CV3511075	single nucleotide variant	NM_138295.5(PKD1L1):c.8391C>A (p.Asp2797Glu)	PKD1L1-related disorder [RCV004748300]	uncertain significance	7	47792762	47792762	Human		name , trait , alternate_id
408375966	CV3511834	single nucleotide variant	NM_138295.5(PKD1L1):c.8221C>A (p.Gln2741Lys)	Inborn genetic diseases [RCV004953724]\|PKD1L1-related disorder [RCV004748394]	uncertain significance	7	47796123	47796123	Human	2	name , trait , alternate_id
408376079	CV3512017	single nucleotide variant	NM_138295.5(PKD1L1):c.3031G>A (p.Glu1011Lys)	PKD1L1-related disorder [RCV004748416]	uncertain significance	7	47885860	47885860	Human		name , trait , alternate_id
408376393	CV3513320	single nucleotide variant	NM_138295.5(PKD1L1):c.8384T>A (p.Leu2795Gln)	PKD1L1-related disorder [RCV004749067]\|not provided [RCV005059858]	uncertain significance	7	47792769	47792769	Human	1	name , trait , alternate_id
408376555	CV3514756	single nucleotide variant	NM_138295.5(PKD1L1):c.7646G>A (p.Gly2549Asp)	PKD1L1-related disorder [RCV004749270]	uncertain significance	7	47809513	47809513	Human		name , trait , alternate_id
408376624	CV3515328	single nucleotide variant	NM_138295.5(PKD1L1):c.3692T>G (p.Ile1231Arg)	PKD1L1-related disorder [RCV004749341]	uncertain significance	7	47876189	47876189	Human		name , trait , alternate_id
408376937	CV3517420	single nucleotide variant	NM_138295.5(PKD1L1):c.7534A>G (p.Ile2512Val)	PKD1L1-related disorder [RCV004750120]	uncertain significance	7	47811864	47811864	Human		name , trait , alternate_id
408376997	CV3517468	single nucleotide variant	NM_138295.5(PKD1L1):c.4529A>G (p.Tyr1510Cys)	PKD1L1-related disorder [RCV004750128]	uncertain significance	7	47857666	47857666	Human		name , trait , alternate_id
408376950	CV3517512	single nucleotide variant	NM_138295.5(PKD1L1):c.8156T>A (p.Ile2719Asn)	PKD1L1-related disorder [RCV004750133]	uncertain significance	7	47800686	47800686	Human		name , trait , alternate_id
408376960	CV3517568	single nucleotide variant	NM_138295.5(PKD1L1):c.3416C>T (p.Ala1139Val)	PKD1L1-related disorder [RCV004750143]	uncertain significance	7	47881935	47881935	Human		name , trait , alternate_id
408376991	CV3517820	single nucleotide variant	NM_138295.5(PKD1L1):c.4160T>G (p.Met1387Arg)	PKD1L1-related disorder [RCV004750174]	uncertain significance	7	47858875	47858875	Human		name , trait , alternate_id
408390019	CV3519076	single nucleotide variant	NM_138295.5(PKD1L1):c.5045A>C (p.Tyr1682Ser)	not provided [RCV004762385]	uncertain significance	7	47846987	47846987	Human		name
596944879	CV3543547	single nucleotide variant	NM_138295.5(PKD1L1):c.3761G>A (p.Gly1254Asp)	not provided [RCV004801669]	uncertain significance	7	47876120	47876120	Human		name
597724775	CV3572489	single nucleotide variant	NM_138295.5(PKD1L1):c.7987G>A (p.Ala2663Thr)	Inborn genetic diseases [RCV004961989]	uncertain significance	7	47800855	47800855	Human	1	name
597724789	CV3572492	single nucleotide variant	NM_138295.5(PKD1L1):c.7454T>A (p.Leu2485His)	Inborn genetic diseases [RCV004961991]	uncertain significance	7	47811944	47811944	Human	1	name
597724815	CV3572496	single nucleotide variant	NM_138295.5(PKD1L1):c.3266C>A (p.Ala1089Asp)	Inborn genetic diseases [RCV004961995]	uncertain significance	7	47882085	47882085	Human	1	name
597724835	CV3572499	single nucleotide variant	NM_138295.5(PKD1L1):c.6680G>A (p.Arg2227His)	Inborn genetic diseases [RCV004961997]	uncertain significance	7	47829480	47829480	Human	1	name
597724842	CV3572500	single nucleotide variant	NM_138295.5(PKD1L1):c.6181G>A (p.Ala2061Thr)	Inborn genetic diseases [RCV004961998]	uncertain significance	7	47833246	47833246	Human	1	name
597724885	CV3572505	single nucleotide variant	NM_138295.5(PKD1L1):c.5450A>G (p.Tyr1817Cys)	Inborn genetic diseases [RCV004962003]	uncertain significance	7	47840563	47840563	Human	1	name
597724903	CV3572507	single nucleotide variant	NM_138295.5(PKD1L1):c.7174C>T (p.Pro2392Ser)	Inborn genetic diseases [RCV004962005]	uncertain significance	7	47813293	47813293	Human	1	name
597724909	CV3572508	single nucleotide variant	NM_138295.5(PKD1L1):c.6716G>A (p.Cys2239Tyr)	Inborn genetic diseases [RCV004962006]	uncertain significance	7	47829444	47829444	Human	1	name
597724914	CV3572509	single nucleotide variant	NM_138295.5(PKD1L1):c.5069G>A (p.Arg1690Gln)	Inborn genetic diseases [RCV004962007]	likely benign	7	47846963	47846963	Human	1	name
597724921	CV3572510	single nucleotide variant	NM_138295.5(PKD1L1):c.6760C>T (p.Arg2254Cys)	Inborn genetic diseases [RCV004962008]\|not provided [RCV005429486]	uncertain significance	7	47827444	47827444	Human	1	name
597724933	CV3572512	single nucleotide variant	NM_138295.5(PKD1L1):c.4409G>A (p.Arg1470Gln)	Inborn genetic diseases [RCV004962010]	likely benign	7	47857786	47857786	Human	1	name
597724939	CV3572513	single nucleotide variant	NM_138295.5(PKD1L1):c.5233C>G (p.Gln1745Glu)	Inborn genetic diseases [RCV004962011]	uncertain significance	7	47844999	47844999	Human	1	name
597724955	CV3572517	single nucleotide variant	NM_138295.5(PKD1L1):c.3181C>T (p.His1061Tyr)	Inborn genetic diseases [RCV004962013]	uncertain significance	7	47885710	47885710	Human	1	name
597724963	CV3572518	single nucleotide variant	NM_138295.5(PKD1L1):c.6922G>A (p.Asp2308Asn)	Inborn genetic diseases [RCV004962014]	uncertain significance	7	47821119	47821119	Human	1	name
597724975	CV3572520	single nucleotide variant	NM_138295.5(PKD1L1):c.8509A>G (p.Ser2837Gly)	Inborn genetic diseases [RCV004962016]	uncertain significance	7	47792644	47792644	Human	1	name
597724979	CV3572521	single nucleotide variant	NM_138295.5(PKD1L1):c.4205A>G (p.Gln1402Arg)	Inborn genetic diseases [RCV004962017]	uncertain significance	7	47858830	47858830	Human	1	name
597724992	CV3572523	single nucleotide variant	NM_138295.5(PKD1L1):c.4033T>C (p.Trp1345Arg)	Inborn genetic diseases [RCV004962019]	uncertain significance	7	47866478	47866478	Human	1	name
597724996	CV3572524	single nucleotide variant	NM_138295.5(PKD1L1):c.4729G>T (p.Val1577Leu)	Inborn genetic diseases [RCV004962020]	uncertain significance	7	47855012	47855012	Human	1	name
597725001	CV3572526	single nucleotide variant	NM_138295.5(PKD1L1):c.3199C>T (p.Leu1067Phe)	Inborn genetic diseases [RCV004962021]	uncertain significance	7	47885692	47885692	Human	1	name
597725009	CV3572527	single nucleotide variant	NM_138295.5(PKD1L1):c.4043T>C (p.Ile1348Thr)	Inborn genetic diseases [RCV004962022]	uncertain significance	7	47866468	47866468	Human	1	name
597725014	CV3572528	single nucleotide variant	NM_138295.5(PKD1L1):c.6847G>T (p.Ala2283Ser)	Inborn genetic diseases [RCV004962023]	uncertain significance	7	47827357	47827357	Human	1	name
597725018	CV3572529	single nucleotide variant	NM_138295.5(PKD1L1):c.4844T>C (p.Val1615Ala)	Inborn genetic diseases [RCV004962024]	uncertain significance	7	47854897	47854897	Human	1	name
597725023	CV3572530	single nucleotide variant	NM_138295.5(PKD1L1):c.4639C>G (p.Pro1547Ala)	Inborn genetic diseases [RCV004962025]	uncertain significance	7	47855217	47855217	Human	1	name
597725029	CV3572531	single nucleotide variant	NM_138295.5(PKD1L1):c.7631G>C (p.Arg2544Pro)	Inborn genetic diseases [RCV004962026]	uncertain significance	7	47809528	47809528	Human	1	name
597725034	CV3572532	single nucleotide variant	NM_138295.5(PKD1L1):c.8189G>A (p.Gly2730Glu)	Inborn genetic diseases [RCV004962027]	uncertain significance	7	47800653	47800653	Human	1	name
597725038	CV3572533	single nucleotide variant	NM_138295.5(PKD1L1):c.3350C>T (p.Ser1117Phe)	Inborn genetic diseases [RCV004962028]	likely benign	7	47882001	47882001	Human	1	name
597725052	CV3572536	single nucleotide variant	NM_138295.5(PKD1L1):c.8414G>C (p.Gly2805Ala)	Inborn genetic diseases [RCV004962030]	uncertain significance	7	47792739	47792739	Human	1	name
597725059	CV3572537	single nucleotide variant	NM_138295.5(PKD1L1):c.4594G>A (p.Gly1532Ser)	Inborn genetic diseases [RCV004962031]	uncertain significance	7	47855262	47855262	Human	1	name
597725068	CV3572539	single nucleotide variant	NM_138295.5(PKD1L1):c.3995G>A (p.Arg1332His)	Inborn genetic diseases [RCV004962033]	uncertain significance	7	47866516	47866516	Human	1	name
597703807	CV3728832	single nucleotide variant	NM_138295.5(PKD1L1):c.7755T>A (p.Asp2585Glu)	Heterotaxy, visceral, 8, autosomal [RCV005047976]	uncertain significance	7	47808319	47808319	Human	1	name
597834014	CV3735155	single nucleotide variant	NM_138295.5(PKD1L1):c.6746C>T (p.Ala2249Val)	not provided [RCV005054888]	uncertain significance	7	47827458	47827458	Human		name
597860441	CV3748675	single nucleotide variant	NM_138295.5(PKD1L1):c.3296C>T (p.Pro1099Leu)	not provided [RCV005067307]	uncertain significance	7	47882055	47882055	Human		name
597881583	CV3763852	single nucleotide variant	NM_138295.5(PKD1L1):c.3847G>T (p.Val1283Leu)	not provided [RCV005109252]	likely benign	7	47873948	47873948	Human		name
597920245	CV3781226	single nucleotide variant	NM_138295.5(PKD1L1):c.4099A>C (p.Met1367Leu)	not provided [RCV005130108]	uncertain significance	7	47865266	47865266	Human		name
597901553	CV3796727	single nucleotide variant	NM_138295.5(PKD1L1):c.3377T>G (p.Val1126Gly)	not provided [RCV005152810]	benign	7	47881974	47881974	Human		name
597960557	CV3843697	single nucleotide variant	NM_138295.5(PKD1L1):c.4190G>A (p.Arg1397Gln)	not provided [RCV005192734]	uncertain significance	7	47858845	47858845	Human		name
597888211	CV3859463	single nucleotide variant	NM_138295.5(PKD1L1):c.3412C>T (p.Arg1138Ter)	not provided [RCV005200119]	pathogenic	7	47881939	47881939	Human		name
598202886	CV3896357	single nucleotide variant	NM_138295.5(PKD1L1):c.5521G>T (p.Glu1841Ter)	Heterotaxy, visceral, 8, autosomal [RCV005356618]	likely pathogenic	7	47840492	47840492	Human	1	name
598205517	CV4003070	single nucleotide variant	NM_138295.5(PKD1L1):c.6505C>T (p.His2169Tyr)	Inborn genetic diseases [RCV005399476]	uncertain significance	7	47830093	47830093	Human	1	name
598167549	CV4003073	single nucleotide variant	NM_138295.5(PKD1L1):c.4217C>T (p.Ser1406Leu)	Inborn genetic diseases [RCV005391724]	uncertain significance	7	47858818	47858818	Human	1	name
598167562	CV4003076	single nucleotide variant	NM_138295.5(PKD1L1):c.4105G>T (p.Gly1369Cys)	Inborn genetic diseases [RCV005391727]	uncertain significance	7	47865260	47865260	Human	1	name
598167571	CV4003078	single nucleotide variant	NM_138295.5(PKD1L1):c.3067G>A (p.Gly1023Arg)	Inborn genetic diseases [RCV005391729]	uncertain significance	7	47885824	47885824	Human	1	name
598167574	CV4003079	single nucleotide variant	NM_138295.5(PKD1L1):c.4924A>G (p.Ile1642Val)	Inborn genetic diseases [RCV005391730]	uncertain significance	7	47853163	47853163	Human	1	name
598167578	CV4003080	single nucleotide variant	NM_138295.5(PKD1L1):c.3020G>T (p.Gly1007Val)	Inborn genetic diseases [RCV005391731]	uncertain significance	7	47885871	47885871	Human	1	name
598167582	CV4003081	single nucleotide variant	NM_138295.5(PKD1L1):c.6421T>C (p.Cys2141Arg)	Inborn genetic diseases [RCV005391732]	uncertain significance	7	47831269	47831269	Human	1	name
598167585	CV4003082	single nucleotide variant	NM_138295.5(PKD1L1):c.5303T>C (p.Val1768Ala)	Inborn genetic diseases [RCV005391733]	uncertain significance	7	47843104	47843104	Human	1	name
598167598	CV4003086	single nucleotide variant	NM_138295.5(PKD1L1):c.6770G>A (p.Arg2257His)	Inborn genetic diseases [RCV005391736]	uncertain significance	7	47827434	47827434	Human	1	name
598205527	CV4003087	single nucleotide variant	NM_138295.5(PKD1L1):c.7122A>G (p.Ile2374Met)	Inborn genetic diseases [RCV005399478]	uncertain significance	7	47813982	47813982	Human	1	name
598167603	CV4003089	single nucleotide variant	NM_138295.5(PKD1L1):c.5822C>T (p.Ser1941Leu)	Inborn genetic diseases [RCV005391737]	uncertain significance	7	47837042	47837042	Human	1	name
598167611	CV4003092	single nucleotide variant	NM_138295.5(PKD1L1):c.3652T>C (p.Ser1218Pro)	Inborn genetic diseases [RCV005391739]	uncertain significance	7	47877500	47877500	Human	1	name
598167620	CV4003094	single nucleotide variant	NM_138295.5(PKD1L1):c.8240A>C (p.Gln2747Pro)	Inborn genetic diseases [RCV005391741]	uncertain significance	7	47796104	47796104	Human	1	name
598167643	CV4003099	single nucleotide variant	NM_138295.5(PKD1L1):c.8543A>T (p.Asp2848Val)	Inborn genetic diseases [RCV005391746]	uncertain significance	7	47775150	47775150	Human	1	name
598167645	CV4003100	single nucleotide variant	NM_138295.5(PKD1L1):c.6242C>T (p.Thr2081Ile)	Inborn genetic diseases [RCV005391747]	uncertain significance	7	47833185	47833185	Human	1	name
598210110	CV4007967	single nucleotide variant	NM_138295.5(PKD1L1):c.6187G>T (p.Ala2063Ser)	Heterotaxy, visceral, 8, autosomal [RCV005400281]	uncertain significance	7	47833240	47833240	Human	1	name
15197504	CV700100	single nucleotide variant	NM_138295.5(PKD1L1):c.7072C>T (p.Arg2358Cys)	not provided [RCV000956482]	benign	7	47815351	47815351	Human		name
15168697	CV700101	single nucleotide variant	NM_138295.5(PKD1L1):c.6898G>A (p.Val2300Ile)	Heterotaxy, visceral, 8, autosomal [RCV003754893]\|Inborn genetic diseases [RCV002547194]\|not provided [RCV000949311]	benign\|likely benign	7	47821143	47821143	Human	2	name
15197507	CV700102	single nucleotide variant	NM_138295.5(PKD1L1):c.6842G>A (p.Arg2281Gln)	not provided [RCV000956483]	benign	7	47827362	47827362	Human		name
15197512	CV700104	single nucleotide variant	NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser)	Heterotaxy, visceral, 8, autosomal [RCV003117652]\|not provided [RCV000956484]	benign	7	47834981	47834981	Human	1	name
15169758	CV700106	single nucleotide variant	NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn)	Inborn genetic diseases [RCV002547196]\|not provided [RCV000949521]\|not specified [RCV001724194]	benign\|likely benign\|uncertain significance	7	47840546	47840546	Human	1	name
15188745	CV700108	single nucleotide variant	NM_138295.5(PKD1L1):c.4940T>C (p.Ile1647Thr)	not provided [RCV000953974]	likely benign	7	47853147	47853147	Human		name
15184592	CV711017	single nucleotide variant	NM_138295.5(PKD1L1):c.7807C>T (p.Leu2603Phe)	not provided [RCV000975151]	benign	7	47808267	47808267	Human		name
15123233	CV711018	single nucleotide variant	NM_138295.5(PKD1L1):c.7180A>G (p.Arg2394Gly)	not provided [RCV000963203]	likely benign	7	47813287	47813287	Human		name
15184597	CV711020	single nucleotide variant	NM_138295.5(PKD1L1):c.6170G>A (p.Arg2057His)	not provided [RCV000975153]	benign	7	47834343	47834343	Human		name
15184600	CV711021	single nucleotide variant	NM_138295.5(PKD1L1):c.6157G>A (p.Ala2053Thr)	not provided [RCV000975154]	benign	7	47834356	47834356	Human		name
15184605	CV711022	single nucleotide variant	NM_138295.5(PKD1L1):c.5047A>G (p.Thr1683Ala)	not provided [RCV000975155]	benign	7	47846985	47846985	Human		name
15160673	CV711023	single nucleotide variant	NM_138295.5(PKD1L1):c.4821A>T (p.Lys1607Asn)	PKD1L1-related disorder [RCV003936088]\|not provided [RCV000969947]\|not specified [RCV005408110]	likely benign	7	47854920	47854920	Human	1	name , trait , alternate_id
15180768	CV711025	single nucleotide variant	NM_138295.5(PKD1L1):c.3475T>C (p.Tyr1159His)	PKD1L1-related disorder [RCV003943238]\|not provided [RCV000974230]	likely benign\|conflicting interpretations of pathogenicity	7	47880773	47880773	Human	1	name , trait , alternate_id
15180771	CV711027	single nucleotide variant	NM_138295.5(PKD1L1):c.3158G>A (p.Arg1053His)	not provided [RCV000974231]	likely benign\|conflicting interpretations of pathogenicity	7	47885733	47885733	Human		name
15151403	CV722548	single nucleotide variant	NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp)	not provided [RCV000879588]\|not specified [RCV001725201]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	47821092	47821092	Human		name
15112285	CV722550	single nucleotide variant	NM_138295.5(PKD1L1):c.5167G>A (p.Ala1723Thr)	Inborn genetic diseases [RCV003279144]\|not provided [RCV000894439]	likely benign\|uncertain significance	7	47845065	47845065	Human	1	name
15181890	CV722552	single nucleotide variant	NM_138295.5(PKD1L1):c.4040G>A (p.Arg1347Gln)	Heterotaxy, visceral, 8, autosomal [RCV002501419]\|not provided [RCV000885867]	benign\|likely benign	7	47866471	47866471	Human	1	name
15147967	CV736159	single nucleotide variant	NM_138295.5(PKD1L1):c.8374T>C (p.Phe2792Leu)	not provided [RCV000900626]	benign	7	47792779	47792779	Human		name
15167453	CV736160	single nucleotide variant	NM_138295.5(PKD1L1):c.6058G>A (p.Ala2020Thr)	Inborn genetic diseases [RCV003169264]\|PKD1L1-related disorder [RCV003958201]\|not provided [RCV000904657]	likely benign\|uncertain significance	7	47835036	47835036	Human	2	name , trait , alternate_id
15183980	CV736161	single nucleotide variant	NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His)	PKD1L1-related disorder [RCV003432898]\|not provided [RCV000908176]	likely benign\|uncertain significance	7	47846924	47846924	Human	1	name , trait , alternate_id
15128164	CV750666	single nucleotide variant	NM_138295.5(PKD1L1):c.7541G>A (p.Arg2514His)	PKD1L1-related disorder [RCV004749539]\|not provided [RCV000919609]	likely benign\|uncertain significance	7	47811857	47811857	Human	1	name , trait , alternate_id
15171971	CV766301	single nucleotide variant	NM_138295.5(PKD1L1):c.4739G>A (p.Arg1580Gln)	Inborn genetic diseases [RCV004958296]\|PKD1L1-related disorder [RCV003970551]\|not provided [RCV000928015]	likely benign\|uncertain significance	7	47855002	47855002	Human	2	name , trait , alternate_id
8632591	CV87799	single nucleotide variant	NM_138295.3(PKD1L1):c.5225C>T (p.Ser1742Phe)	Malignant melanoma [RCV000067891]	not provided	7	47845007	47845007	Human		name
405286374	CV3205320	microsatellite	NM_138295.5(PKD1L1):c.960_961del (p.Cys321fs)	PKD1L1-related disorder [RCV003959517]	likely pathogenic	7	47929303	47929304	Human		name , trait , alternate_id
156390566	CV1964808	microsatellite	NM_138295.5(PKD1L1):c.6592AGA[1] (p.Arg2199del)	not provided [RCV002583831]	uncertain significance	7	47829563	47829565	Human		name
405212703	CV3142704	microsatellite	NM_138295.5(PKD1L1):c.2740_2741del (p.Leu914fs)	not provided [RCV003846061]	pathogenic	7	47888085	47888086	Human		name
405279187	CV3219634	deletion	NM_138295.5(PKD1L1):c.1058_1059del (p.Lys353fs)	Heterotaxy, visceral, 8, autosomal [RCV005054479]\|PKD1L1-related disorder [RCV003954888]\|not provided [RCV005103048]	pathogenic\|likely pathogenic	7	47929205	47929206	Human	1	name , trait , alternate_id
596925707	CV3542110	microsatellite	NM_138295.5(PKD1L1):c.1529_1530del (p.Ser510fs)	Heterotaxy, visceral, 8, autosomal [RCV004795826]	likely pathogenic	7	47905318	47905319	Human		name
598202899	CV3896359	deletion	NM_138295.5(PKD1L1):c.1916_1926del (p.Ser639fs)	Heterotaxy, visceral, 8, autosomal [RCV005356620]	likely pathogenic	7	47904383	47904393	Human	1	name
150520562	CV1053652	duplication	NM_138295.5(PKD1L1):c.5404_5405dup (p.Asp1803fs)	Heterotaxy [RCV001732155]	likely pathogenic	7	47843001	47843002	Human	3	name
150543310	CV1315179	deletion	NM_138295.5(PKD1L1):c.5086_5087del (p.Lys1696fs)	Heterotaxy, visceral, 8, autosomal [RCV001782636]	likely pathogenic	7	47846945	47846946	Human	1	name
329846378	CV2524703	deletion	NM_138295.5(PKD1L1):c.4798_4799del (p.Gln1600fs)	Heterotaxy, visceral, 8, autosomal [RCV003228185]\|not provided [RCV005061127]	pathogenic	7	47854942	47854943	Human	1	name
401934809	CV2803026	deletion	NM_138295.5(PKD1L1):c.6623_6626del (p.Ser2208fs)	PKD1L1-related disorder [RCV003412241]	likely pathogenic	7	47829534	47829537	Human		name , trait , alternate_id
405724634	CV3235001	deletion	NM_138295.5(PKD1L1):c.8096_8105del (p.Lys2699fs)	Heterotaxy, visceral, 8, autosomal [RCV004018026]	pathogenic	7	47800737	47800746	Human	1	name
156024582	CV2106018	inversion	NM_138295.5(PKD1L1):c.3813_3814inv (p.Lys1272Glu)	not provided [RCV002923230]	likely benign	7	47873981	47873982	Human		name
243059578	CV2406186	indel	NM_138295.5(PKD1L1):c.2325_2326delinsAG (p.Arg776Gly)	Heterotaxy, visceral, 8, autosomal [RCV003134932]	uncertain significance	7	47894005	47894006	Human		name
408375849	CV3511294	microsatellite	NM_138295.5(PKD1L1):c.321TGTTGTTAATGAAAAAACACAGGC[1] (p.108VVNEKTQA[1])	PKD1L1-related disorder [RCV004748330]	uncertain significance	7	47936876	47936899	Human		name , trait , alternate_id
405286585	CV3192241	indel	NM_138295.5(PKD1L1):c.3224_3227delinsATTCAAGAAG (p.Ser1075_Asp1076delinsAsnSerArgSer)	PKD1L1-related disorder [RCV003924143]	uncertain significance	7	47884636	47884639	Human		name , trait , alternate_id

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