Pkhd1l1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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464 records found for search term Pkhd1l1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
408383724	CV3506895	duplication	NM_177531.6(PKHD1L1):c.5777-4dup	PKHD1L1-related disorder [RCV004730742]	likely benign	8	109448126	109448127	Human		name , trait , alternate_id
15164390	CV779281	single nucleotide variant	NM_177531.6(PKHD1L1):c.6507+1G>A	not provided [RCV000970708]	benign	8	109452281	109452281	Human		name
401909285	CV2821237	single nucleotide variant	NM_177531.6(PKHD1L1):c.12330+1G>A	not provided [RCV003423975]	uncertain significance	8	109522891	109522891	Human		name
408367639	CV3511746	single nucleotide variant	NM_177531.6(PKHD1L1):c.12330+2T>A	PKHD1L1-related disorder [RCV004759092]	uncertain significance	8	109522892	109522892	Human		name , trait , alternate_id
408367785	CV3516259	single nucleotide variant	NM_177531.6(PKHD1L1):c.10994+1G>A	PKHD1L1-related disorder [RCV004759238]	uncertain significance	8	109504493	109504493	Human		name , trait , alternate_id
401779599	CV2718642	single nucleotide variant	NM_177531.6(PKHD1L1):c.7C>T (p.His3Tyr)	not specified [RCV004320220]	uncertain significance	8	109362587	109362587	Human		name
408367687	CV3511799	deletion	NM_177531.6(PKHD1L1):c.5777-5_5777-4del	PKHD1L1-related disorder [RCV004759093]	likely benign	8	109448127	109448128	Human		name , trait , alternate_id
597702334	CV3572771	single nucleotide variant	NM_177531.6(PKHD1L1):c.8A>G (p.His3Arg)	not specified [RCV004839934]	uncertain significance	8	109362588	109362588	Human		name
407531090	CV3460528	single nucleotide variant	NM_177531.6(PKHD1L1):c.32G>A (p.Gly11Asp)	not specified [RCV004657418]	uncertain significance	8	109362612	109362612	Human		name
156076557	CV2321899	single nucleotide variant	NM_177531.6(PKHD1L1):c.239C>G (p.Ser80Cys)	not specified [RCV004173369]	uncertain significance	8	109381445	109381445	Human		name
329379982	CV2444127	single nucleotide variant	NM_177531.6(PKHD1L1):c.238T>G (p.Ser80Ala)	not specified [RCV004260868]	uncertain significance	8	109381444	109381444	Human		name
401741783	CV2677436	single nucleotide variant	NM_177531.6(PKHD1L1):c.282T>A (p.His94Gln)	not specified [RCV004289505]	uncertain significance	8	109381488	109381488	Human		name
405651028	CV3365574	single nucleotide variant	NM_177531.6(PKHD1L1):c.221G>A (p.Ser74Asn)	not specified [RCV004509085]	uncertain significance	8	109381427	109381427	Human		name
407512578	CV3460523	single nucleotide variant	NM_177531.6(PKHD1L1):c.231A>T (p.Leu77Phe)	not specified [RCV004648477]	uncertain significance	8	109381437	109381437	Human		name
408367546	CV3508276	single nucleotide variant	NM_177531.6(PKHD1L1):c.1512G>A (p.Ser504=)	PKHD1L1-related disorder [RCV004758982]	likely benign	8	109404692	109404692	Human		name , trait , alternate_id
408367652	CV3511058	single nucleotide variant	NM_177531.6(PKHD1L1):c.1737A>G (p.Lys579=)	PKHD1L1-related disorder [RCV004759061]	likely benign	8	109406402	109406402	Human		name , trait , alternate_id
597702745	CV3572820	single nucleotide variant	NM_177531.6(PKHD1L1):c.274G>T (p.Ala92Ser)	not specified [RCV004839974]	likely benign	8	109381480	109381480	Human		name
8632781	CV87996	single nucleotide variant	NM_177531.4(PKHD1L1):c.2403G>A (p.Thr801=)	Malignant melanoma [RCV000068088]	not provided	8	109419139	109419139	Human		name
155972378	CV2228166	single nucleotide variant	NM_177531.6(PKHD1L1):c.470C>A (p.Thr157Asn)	not specified [RCV004096378]	uncertain significance	8	109384122	109384122	Human		name
156295007	CV2233692	single nucleotide variant	NM_177531.6(PKHD1L1):c.928C>T (p.Pro310Ser)	not specified [RCV004100140]	uncertain significance	8	109398464	109398464	Human		name
156251926	CV2273450	single nucleotide variant	NM_177531.6(PKHD1L1):c.674G>A (p.Cys225Tyr)	not specified [RCV004132205]	uncertain significance	8	109389129	109389129	Human		name
156047683	CV2315711	single nucleotide variant	NM_177531.6(PKHD1L1):c.870A>G (p.Ile290Met)	not specified [RCV004169728]	uncertain significance	8	109396085	109396085	Human		name
156063244	CV2330992	single nucleotide variant	NM_177531.6(PKHD1L1):c.928C>A (p.Pro310Thr)	not specified [RCV004188032]	uncertain significance	8	109398464	109398464	Human		name
156231019	CV2348729	single nucleotide variant	NM_177531.6(PKHD1L1):c.515T>C (p.Val172Ala)	not specified [RCV004201139]	uncertain significance	8	109385576	109385576	Human		name
156086946	CV2366343	single nucleotide variant	NM_177531.6(PKHD1L1):c.812A>T (p.Glu271Val)	not specified [RCV004212399]	uncertain significance	8	109396027	109396027	Human		name
156346961	CV2382820	single nucleotide variant	NM_177531.6(PKHD1L1):c.976C>A (p.Pro326Thr)	not specified [RCV004224156]	uncertain significance	8	109398512	109398512	Human		name
329399714	CV2467614	single nucleotide variant	NM_177531.6(PKHD1L1):c.614C>T (p.Ser205Phe)	not specified [RCV004287473]	uncertain significance	8	109388541	109388541	Human		name
401924109	CV2821235	single nucleotide variant	NM_177531.6(PKHD1L1):c.5727A>G (p.Thr1909=)	not provided [RCV003435592]	likely benign	8	109445596	109445596	Human		name
405651106	CV3365591	single nucleotide variant	NM_177531.6(PKHD1L1):c.416A>T (p.Asn139Ile)	not specified [RCV004509102]	uncertain significance	8	109382570	109382570	Human		name
405651111	CV3365594	single nucleotide variant	NM_177531.6(PKHD1L1):c.437C>T (p.Pro146Leu)	not specified [RCV004509105]	uncertain significance	8	109384089	109384089	Human		name
405651157	CV3365618	single nucleotide variant	NM_177531.6(PKHD1L1):c.628G>C (p.Gly210Arg)	not specified [RCV004509129]	uncertain significance	8	109389083	109389083	Human		name
405651170	CV3365624	single nucleotide variant	NM_177531.6(PKHD1L1):c.718A>G (p.Ile240Val)	not specified [RCV004509135]	uncertain significance	8	109390472	109390472	Human		name
405651175	CV3365627	single nucleotide variant	NM_177531.6(PKHD1L1):c.728A>G (p.Asn243Ser)	not specified [RCV004509138]	likely benign	8	109390482	109390482	Human		name
405651179	CV3365629	single nucleotide variant	NM_177531.6(PKHD1L1):c.760G>A (p.Ala254Thr)	not specified [RCV004509140]	likely benign	8	109394434	109394434	Human		name
405651184	CV3365631	single nucleotide variant	NM_177531.6(PKHD1L1):c.782A>G (p.Asn261Ser)	not specified [RCV004509142]	uncertain significance	8	109394456	109394456	Human		name
405651193	CV3365636	single nucleotide variant	NM_177531.6(PKHD1L1):c.836A>G (p.Gln279Arg)	not specified [RCV004509147]	uncertain significance	8	109396051	109396051	Human		name
405651199	CV3365639	single nucleotide variant	NM_177531.6(PKHD1L1):c.877C>A (p.Arg293Ser)	not specified [RCV004509150]	uncertain significance	8	109396092	109396092	Human		name
405673904	CV3380118	single nucleotide variant	NM_177531.6(PKHD1L1):c.385G>A (p.Gly129Ser)	Autosomal recessive nonsyndromic hearing loss 124 [RCV004515819]	pathogenic	8	109382539	109382539	Human	1	name
407512563	CV3460514	single nucleotide variant	NM_177531.6(PKHD1L1):c.860C>T (p.Thr287Met)	not specified [RCV004648472]	uncertain significance	8	109396075	109396075	Human		name
407512588	CV3460533	single nucleotide variant	NM_177531.6(PKHD1L1):c.624A>T (p.Leu208Phe)	not specified [RCV004648481]	uncertain significance	8	109389079	109389079	Human		name
408367690	CV3511859	single nucleotide variant	NM_177531.6(PKHD1L1):c.3096A>G (p.Leu1032=)	PKHD1L1-related disorder [RCV004759098]	likely benign	8	109429435	109429435	Human		name , trait , alternate_id
408367778	CV3515889	single nucleotide variant	NM_177531.6(PKHD1L1):c.652G>T (p.Gly218Ter)	PKHD1L1-related disorder [RCV004759231]	likely benign	8	109389107	109389107	Human		name , trait , alternate_id
597702323	CV3572770	single nucleotide variant	NM_177531.6(PKHD1L1):c.866C>T (p.Thr289Ile)	not specified [RCV004839933]	uncertain significance	8	109396081	109396081	Human		name
597702389	CV3572779	single nucleotide variant	NM_177531.6(PKHD1L1):c.467G>A (p.Gly156Glu)	not specified [RCV004839939]	uncertain significance	8	109384119	109384119	Human		name
597702482	CV3572791	single nucleotide variant	NM_177531.6(PKHD1L1):c.344G>A (p.Ser115Asn)	not specified [RCV004839949]	uncertain significance	8	109382498	109382498	Human		name
597702627	CV3572806	single nucleotide variant	NM_177531.6(PKHD1L1):c.589C>A (p.Pro197Thr)	not specified [RCV004839963]	uncertain significance	8	109388516	109388516	Human		name
597702649	CV3572809	single nucleotide variant	NM_177531.6(PKHD1L1):c.896A>C (p.Asp299Ala)	not specified [RCV004839965]	uncertain significance	8	109396111	109396111	Human		name
597767619	CV3572824	single nucleotide variant	NM_177531.6(PKHD1L1):c.662G>A (p.Gly221Asp)	not specified [RCV004850517]	uncertain significance	8	109389117	109389117	Human		name
598205709	CV3999988	single nucleotide variant	NM_177531.6(PKHD1L1):c.532G>A (p.Ala178Thr)	not specified [RCV005399507]	uncertain significance	8	109385593	109385593	Human		name
598168391	CV3999998	single nucleotide variant	NM_177531.6(PKHD1L1):c.860C>A (p.Thr287Lys)	not specified [RCV005391884]	uncertain significance	8	109396075	109396075	Human		name
598168402	CV4000000	single nucleotide variant	NM_177531.6(PKHD1L1):c.674G>C (p.Cys225Ser)	not specified [RCV005391886]	uncertain significance	8	109389129	109389129	Human		name
598168544	CV4000028	single nucleotide variant	NM_177531.6(PKHD1L1):c.854G>T (p.Gly285Val)	not specified [RCV005391909]	uncertain significance	8	109396069	109396069	Human		name
15198125	CV700338	single nucleotide variant	NM_177531.6(PKHD1L1):c.6841C>T (p.Leu2281=)	not provided [RCV000956659]	benign	8	109454819	109454819	Human		name
15158708	CV700339	single nucleotide variant	NM_177531.6(PKHD1L1):c.7392T>C (p.His2464=)	not provided [RCV000947124]	benign	8	109464224	109464224	Human		name
156180407	CV2225924	single nucleotide variant	NM_177531.6(PKHD1L1):c.2978G>A (p.Cys993Tyr)	not specified [RCV004105100]	uncertain significance	8	109427134	109427134	Human		name
156070802	CV2295838	single nucleotide variant	NM_177531.6(PKHD1L1):c.2495G>A (p.Gly832Glu)	not specified [RCV004151752]	uncertain significance	8	109419231	109419231	Human		name
156350263	CV2316174	single nucleotide variant	NM_177531.6(PKHD1L1):c.2854G>A (p.Ala952Thr)	not specified [RCV004174217]	uncertain significance	8	109427010	109427010	Human		name
156167028	CV2330166	single nucleotide variant	NM_177531.6(PKHD1L1):c.2483T>C (p.Val828Ala)	not specified [RCV004185651]	uncertain significance	8	109419219	109419219	Human		name
155912696	CV2341630	single nucleotide variant	NM_177531.6(PKHD1L1):c.2620A>G (p.Thr874Ala)	not specified [RCV004182557]	uncertain significance	8	109420613	109420613	Human		name
156167272	CV2345278	single nucleotide variant	NM_177531.6(PKHD1L1):c.2402C>T (p.Thr801Met)	not specified [RCV004196013]	uncertain significance	8	109419138	109419138	Human		name
156246233	CV2347299	single nucleotide variant	NM_177531.6(PKHD1L1):c.2390A>T (p.Asp797Val)	not specified [RCV004206778]	uncertain significance	8	109419126	109419126	Human		name
156195926	CV2367187	single nucleotide variant	NM_177531.6(PKHD1L1):c.1992A>T (p.Glu664Asp)	not specified [RCV004215616]	uncertain significance	8	109409885	109409885	Human		name
156342584	CV2368581	single nucleotide variant	NM_177531.6(PKHD1L1):c.2764A>G (p.Ile922Val)	not specified [RCV004221366]	uncertain significance	8	109425151	109425151	Human		name
156253530	CV2388436	single nucleotide variant	NM_177531.6(PKHD1L1):c.2198G>A (p.Arg733Gln)	not specified [RCV004236928]	uncertain significance	8	109412377	109412377	Human		name
156171966	CV2400736	single nucleotide variant	NM_177531.6(PKHD1L1):c.1219T>C (p.Tyr407His)	not specified [RCV004242404]	uncertain significance	8	109400282	109400282	Human		name
329361056	CV2436627	single nucleotide variant	NM_177531.6(PKHD1L1):c.1141T>C (p.Trp381Arg)	not specified [RCV004258004]	uncertain significance	8	109400204	109400204	Human		name
329360523	CV2458809	single nucleotide variant	NM_177531.6(PKHD1L1):c.1624T>C (p.Cys542Arg)	not specified [RCV004270233]	uncertain significance	8	109405085	109405085	Human		name
329397168	CV2459978	single nucleotide variant	NM_177531.6(PKHD1L1):c.1693G>A (p.Glu565Lys)	not specified [RCV004279454]	uncertain significance	8	109406358	109406358	Human		name
329359749	CV2462262	single nucleotide variant	NM_177531.6(PKHD1L1):c.2374T>C (p.Cys792Arg)	not specified [RCV004266258]	uncertain significance	8	109419110	109419110	Human		name
401734887	CV2706573	single nucleotide variant	NM_177531.6(PKHD1L1):c.2207G>C (p.Gly736Ala)	not specified [RCV004319158]	uncertain significance	8	109412386	109412386	Human		name
401725349	CV2721732	single nucleotide variant	NM_177531.6(PKHD1L1):c.2377A>G (p.Ile793Val)	not specified [RCV004324473]	uncertain significance	8	109419113	109419113	Human		name
401897505	CV2787111	single nucleotide variant	NM_177531.6(PKHD1L1):c.2764A>C (p.Ile922Leu)	not specified [RCV004360548]	uncertain significance	8	109425151	109425151	Human		name
401924111	CV2821236	single nucleotide variant	NM_177531.6(PKHD1L1):c.10251C>A (p.Thr3417=)	not provided [RCV003435593]	likely benign	8	109493675	109493675	Human		name
401924112	CV2821238	single nucleotide variant	NM_177531.6(PKHD1L1):c.12651C>T (p.Ser4217=)	not provided [RCV003435594]	likely benign	8	109526950	109526950	Human		name
405650994	CV3365554	single nucleotide variant	NM_177531.6(PKHD1L1):c.1084A>T (p.Asn362Tyr)	not specified [RCV004509065]	uncertain significance	8	109400147	109400147	Human		name
405651007	CV3365562	single nucleotide variant	NM_177531.6(PKHD1L1):c.1442A>G (p.Tyr481Cys)	not specified [RCV004509073]	uncertain significance	8	109404622	109404622	Human		name
405651009	CV3365563	single nucleotide variant	NM_177531.6(PKHD1L1):c.1525G>A (p.Glu509Lys)	not specified [RCV004509074]	uncertain significance	8	109404705	109404705	Human		name
405651010	CV3365564	single nucleotide variant	NM_177531.6(PKHD1L1):c.1592A>G (p.Lys531Arg)	not specified [RCV004509075]	uncertain significance	8	109405053	109405053	Human		name
405651012	CV3365565	single nucleotide variant	NM_177531.6(PKHD1L1):c.1601G>A (p.Ser534Asn)	not specified [RCV004509076]	uncertain significance	8	109405062	109405062	Human		name
405651013	CV3365566	single nucleotide variant	NM_177531.6(PKHD1L1):c.1844T>C (p.Val615Ala)	not specified [RCV004509077]	uncertain significance	8	109408079	109408079	Human		name
405651015	CV3365567	single nucleotide variant	NM_177531.6(PKHD1L1):c.1893A>C (p.Lys631Asn)	not specified [RCV004509078]	uncertain significance	8	109408128	109408128	Human		name
405651018	CV3365568	single nucleotide variant	NM_177531.6(PKHD1L1):c.1990G>A (p.Glu664Lys)	not specified [RCV004509079]	uncertain significance	8	109409883	109409883	Human		name
405651019	CV3365569	single nucleotide variant	NM_177531.6(PKHD1L1):c.2110A>G (p.Thr704Ala)	not specified [RCV004509080]	uncertain significance	8	109412289	109412289	Human		name
405651021	CV3365570	single nucleotide variant	NM_177531.6(PKHD1L1):c.2111C>G (p.Thr704Arg)	not specified [RCV004509081]	uncertain significance	8	109412290	109412290	Human		name
405651023	CV3365571	single nucleotide variant	NM_177531.6(PKHD1L1):c.2122G>A (p.Asp708Asn)	not specified [RCV004509082]	uncertain significance	8	109412301	109412301	Human		name
405651024	CV3365572	single nucleotide variant	NM_177531.6(PKHD1L1):c.2155C>T (p.Pro719Ser)	not specified [RCV004509083]	uncertain significance	8	109412334	109412334	Human		name
405651026	CV3365573	single nucleotide variant	NM_177531.6(PKHD1L1):c.2189C>G (p.Pro730Arg)	not specified [RCV004509084]	uncertain significance	8	109412368	109412368	Human		name
405651030	CV3365575	single nucleotide variant	NM_177531.6(PKHD1L1):c.2474A>T (p.Tyr825Phe)	not specified [RCV004509086]	uncertain significance	8	109419210	109419210	Human		name
405651032	CV3365576	single nucleotide variant	NM_177531.6(PKHD1L1):c.2816A>T (p.Asp939Val)	not specified [RCV004509087]	uncertain significance	8	109425203	109425203	Human		name
405651033	CV3365577	single nucleotide variant	NM_177531.6(PKHD1L1):c.2888T>G (p.Leu963Arg)	not specified [RCV004509088]	uncertain significance	8	109427044	109427044	Human		name
405673914	CV3380122	single nucleotide variant	NM_177531.6(PKHD1L1):c.1813G>A (p.Gly605Arg)	Autosomal recessive nonsyndromic hearing loss 124 [RCV004515823]	pathogenic	8	109406478	109406478	Human	1	name
407453654	CV3416372	single nucleotide variant	NM_177531.6(PKHD1L1):c.2651A>G (p.Tyr884Cys)	PKHD1L1-related disorder [RCV004758956]\|not provided [RCV004597630]	likely benign	8	109420644	109420644	Human	1	name , trait , alternate_id
407512535	CV3460500	single nucleotide variant	NM_177531.6(PKHD1L1):c.1096C>T (p.Pro366Ser)	not specified [RCV004648462]	uncertain significance	8	109400159	109400159	Human		name
407531076	CV3460506	single nucleotide variant	NM_177531.6(PKHD1L1):c.2755G>A (p.Glu919Lys)	not specified [RCV004657411]	uncertain significance	8	109425142	109425142	Human		name
407512544	CV3460507	single nucleotide variant	NM_177531.6(PKHD1L1):c.2924C>T (p.Thr975Ile)	not specified [RCV004648465]	uncertain significance	8	109427080	109427080	Human		name
407512560	CV3460513	single nucleotide variant	NM_177531.6(PKHD1L1):c.2722G>C (p.Glu908Gln)	not specified [RCV004648471]	uncertain significance	8	109425109	109425109	Human		name
407531079	CV3460519	single nucleotide variant	NM_177531.6(PKHD1L1):c.2086G>A (p.Glu696Lys)	not specified [RCV004657413]	uncertain significance	8	109412265	109412265	Human		name
407531100	CV3460535	single nucleotide variant	NM_177531.6(PKHD1L1):c.2413G>A (p.Gly805Arg)	not specified [RCV004657423]	uncertain significance	8	109419149	109419149	Human		name
408367700	CV3511937	single nucleotide variant	NM_177531.6(PKHD1L1):c.2023G>A (p.Ala675Thr)	PKHD1L1-related disorder [RCV004759109]\|not specified [RCV004837945]	likely benign\|uncertain significance	8	109409916	109409916	Human	1	name , trait , alternate_id
408367857	CV3517941	duplication	NM_177531.6(PKHD1L1):c.4321dup (p.Ser1441fs)	PKHD1L1-related disorder [RCV004759276]	uncertain significance	8	109442117	109442118	Human		name , trait , alternate_id
596947000	CV3547061	single nucleotide variant	NM_177531.6(PKHD1L1):c.2105A>C (p.Gln702Pro)	not provided [RCV004810867]	likely benign	8	109412284	109412284	Human		name
597702271	CV3572765	single nucleotide variant	NM_177531.6(PKHD1L1):c.2927G>A (p.Arg976Gln)	not specified [RCV004839928]	uncertain significance	8	109427083	109427083	Human		name
597702278	CV3572766	single nucleotide variant	NM_177531.6(PKHD1L1):c.1331C>T (p.Pro444Leu)	not specified [RCV004839929]	uncertain significance	8	109401546	109401546	Human		name
597702313	CV3572769	single nucleotide variant	NM_177531.6(PKHD1L1):c.1174T>C (p.Phe392Leu)	not specified [RCV004839932]	uncertain significance	8	109400237	109400237	Human		name
597702409	CV3572782	single nucleotide variant	NM_177531.6(PKHD1L1):c.2441G>A (p.Ser814Asn)	not specified [RCV004839941]	uncertain significance	8	109419177	109419177	Human		name
597702435	CV3572786	single nucleotide variant	NM_177531.6(PKHD1L1):c.2545C>T (p.Pro849Ser)	not specified [RCV004839944]	uncertain significance	8	109420538	109420538	Human		name
597702451	CV3572788	single nucleotide variant	NM_177531.6(PKHD1L1):c.2362T>C (p.Trp788Arg)	not specified [RCV004839946]	uncertain significance	8	109419098	109419098	Human		name
597702459	CV3572789	single nucleotide variant	NM_177531.6(PKHD1L1):c.2995C>A (p.Leu999Ile)	not specified [RCV004839947]	uncertain significance	8	109427151	109427151	Human		name
597702494	CV3572792	single nucleotide variant	NM_177531.6(PKHD1L1):c.1238G>T (p.Arg413Leu)	not specified [RCV004839950]	uncertain significance	8	109400301	109400301	Human		name
597702523	CV3572795	single nucleotide variant	NM_177531.6(PKHD1L1):c.1060C>T (p.Arg354Cys)	not specified [RCV004839953]	uncertain significance	8	109400123	109400123	Human		name
597702551	CV3572798	single nucleotide variant	NM_177531.6(PKHD1L1):c.1036G>A (p.Val346Met)	not specified [RCV004839956]	uncertain significance	8	109400099	109400099	Human		name
597702659	CV3572810	single nucleotide variant	NM_177531.6(PKHD1L1):c.2962A>G (p.Lys988Glu)	not specified [RCV004839966]	uncertain significance	8	109427118	109427118	Human		name
597767606	CV3572813	single nucleotide variant	NM_177531.6(PKHD1L1):c.2848C>T (p.Leu950Phe)	not specified [RCV004850514]	uncertain significance	8	109427004	109427004	Human		name
598128811	CV3886609	single nucleotide variant	NM_177531.6(PKHD1L1):c.1238G>A (p.Arg413His)	not provided [RCV005244269]	likely benign	8	109400301	109400301	Human		name
598129196	CV3888489	single nucleotide variant	NM_177531.6(PKHD1L1):c.2272A>G (p.Ile758Val)	not provided [RCV005244663]	uncertain significance	8	109413457	109413457	Human		name
598168326	CV3999984	single nucleotide variant	NM_177531.6(PKHD1L1):c.1934C>G (p.Ala645Gly)	not specified [RCV005391872]	uncertain significance	8	109408169	109408169	Human		name
598168375	CV3999994	single nucleotide variant	NM_177531.6(PKHD1L1):c.2818A>G (p.Ile940Val)	not specified [RCV005391881]	uncertain significance	8	109425205	109425205	Human		name
598205715	CV3999995	single nucleotide variant	NM_177531.6(PKHD1L1):c.2294A>G (p.Gln765Arg)	not specified [RCV005399508]	uncertain significance	8	109413479	109413479	Human		name
598168433	CV4000005	single nucleotide variant	NM_177531.6(PKHD1L1):c.1163T>C (p.Phe388Ser)	not specified [RCV005391891]	uncertain significance	8	109400226	109400226	Human		name
598205719	CV4000008	single nucleotide variant	NM_177531.6(PKHD1L1):c.2447A>G (p.His816Arg)	not specified [RCV005399509]	uncertain significance	8	109419183	109419183	Human		name
598168474	CV4000015	single nucleotide variant	NM_177531.6(PKHD1L1):c.1036G>T (p.Val346Leu)	not specified [RCV005391898]	uncertain significance	8	109400099	109400099	Human		name
598168525	CV4000024	single nucleotide variant	NM_177531.6(PKHD1L1):c.1801A>G (p.Ile601Val)	not specified [RCV005391906]	uncertain significance	8	109406466	109406466	Human		name
598168538	CV4000027	single nucleotide variant	NM_177531.6(PKHD1L1):c.1781A>T (p.Tyr594Phe)	not specified [RCV005391908]	uncertain significance	8	109406446	109406446	Human		name
598168576	CV4000033	single nucleotide variant	NM_177531.6(PKHD1L1):c.1873A>G (p.Thr625Ala)	not specified [RCV005391914]	uncertain significance	8	109408108	109408108	Human		name
15198118	CV700336	single nucleotide variant	NM_177531.6(PKHD1L1):c.1119G>C (p.Trp373Cys)	not provided [RCV000956657]	benign	8	109400182	109400182	Human		name
15198121	CV700337	single nucleotide variant	NM_177531.6(PKHD1L1):c.2870C>A (p.Ala957Glu)	not provided [RCV000956658]	benign	8	109427026	109427026	Human		name
8632780	CV87995	single nucleotide variant	NM_177531.4(PKHD1L1):c.2207G>A (p.Gly736Glu)	Malignant melanoma [RCV000068087]	not provided	8	109412386	109412386	Human		name
8632790	CV88005	single nucleotide variant	NM_177531.4(PKHD1L1):c.12372G>A (p.Arg4124=)	Malignant melanoma [RCV000068097]	not provided	8	109523274	109523274	Human		name
156065545	CV2196952	single nucleotide variant	NM_177531.6(PKHD1L1):c.7624T>A (p.Leu2542Met)	not specified [RCV004071410]	uncertain significance	8	109464456	109464456	Human		name
156177715	CV2201533	single nucleotide variant	NM_177531.6(PKHD1L1):c.4229C>T (p.Ser1410Leu)	not specified [RCV004080024]	uncertain significance	8	109442031	109442031	Human		name
156331371	CV2218149	single nucleotide variant	NM_177531.6(PKHD1L1):c.9670C>A (p.Leu3224Ile)	not specified [RCV004086573]	uncertain significance	8	109485137	109485137	Human		name
156032139	CV2218231	single nucleotide variant	NM_177531.6(PKHD1L1):c.6088A>T (p.Ile2030Phe)	not specified [RCV004088431]	uncertain significance	8	109449400	109449400	Human		name
156326696	CV2219668	single nucleotide variant	NM_177531.6(PKHD1L1):c.6779C>T (p.Ala2260Val)	not specified [RCV004095387]	uncertain significance	8	109454757	109454757	Human		name
156177319	CV2220392	single nucleotide variant	NM_177531.6(PKHD1L1):c.5828T>C (p.Ile1943Thr)	not specified [RCV004095800]	uncertain significance	8	109448194	109448194	Human		name
156116398	CV2221687	single nucleotide variant	NM_177531.6(PKHD1L1):c.7828G>A (p.Glu2610Lys)	not specified [RCV004098456]	likely benign	8	109464660	109464660	Human		name
156017970	CV2223041	single nucleotide variant	NM_177531.6(PKHD1L1):c.5978T>C (p.Val1993Ala)	not specified [RCV004103621]	uncertain significance	8	109448344	109448344	Human		name
156190269	CV2226895	single nucleotide variant	NM_177531.6(PKHD1L1):c.7802T>G (p.Ile2601Ser)	not specified [RCV004103870]	uncertain significance	8	109464634	109464634	Human		name
156230761	CV2227544	single nucleotide variant	NM_177531.6(PKHD1L1):c.8778A>G (p.Ile2926Met)	not specified [RCV004092189]	uncertain significance	8	109476528	109476528	Human		name
156335151	CV2228352	single nucleotide variant	NM_177531.6(PKHD1L1):c.4028T>C (p.Phe1343Ser)	not specified [RCV004098337]	uncertain significance	8	109440781	109440781	Human		name
156238032	CV2235740	single nucleotide variant	NM_177531.6(PKHD1L1):c.5096C>T (p.Pro1699Leu)	not specified [RCV004111876]	uncertain significance	8	109444965	109444965	Human		name
156125757	CV2237665	single nucleotide variant	NM_177531.6(PKHD1L1):c.5768C>A (p.Pro1923Gln)	not specified [RCV004106590]	uncertain significance	8	109445637	109445637	Human		name
155978646	CV2247098	single nucleotide variant	NM_177531.6(PKHD1L1):c.9445G>A (p.Ala3149Thr)	not specified [RCV004114636]	uncertain significance	8	109481550	109481550	Human		name
156076917	CV2248366	single nucleotide variant	NM_177531.6(PKHD1L1):c.5429A>G (p.His1810Arg)	not specified [RCV004119515]	uncertain significance	8	109445298	109445298	Human		name
156076797	CV2251399	single nucleotide variant	NM_177531.6(PKHD1L1):c.8705G>C (p.Gly2902Ala)	not specified [RCV004117383]	uncertain significance	8	109475217	109475217	Human		name
156037975	CV2259859	single nucleotide variant	NM_177531.6(PKHD1L1):c.9266T>C (p.Val3089Ala)	not specified [RCV004117113]	uncertain significance	8	109480078	109480078	Human		name
156364177	CV2262787	single nucleotide variant	NM_177531.6(PKHD1L1):c.7499A>G (p.Asn2500Ser)	not specified [RCV004130955]	uncertain significance	8	109464331	109464331	Human		name
156238210	CV2265374	single nucleotide variant	NM_177531.6(PKHD1L1):c.4747A>G (p.Thr1583Ala)	not specified [RCV004128257]	uncertain significance	8	109443858	109443858	Human		name
156112149	CV2267391	single nucleotide variant	NM_177531.6(PKHD1L1):c.7800C>G (p.Asn2600Lys)	not specified [RCV004134046]	uncertain significance	8	109464632	109464632	Human		name
155949149	CV2267582	single nucleotide variant	NM_177531.6(PKHD1L1):c.6298A>G (p.Arg2100Gly)	not specified [RCV004134145]	uncertain significance	8	109451097	109451097	Human		name
156235782	CV2268033	single nucleotide variant	NM_177531.6(PKHD1L1):c.7826G>A (p.Gly2609Asp)	not specified [RCV004136586]	uncertain significance	8	109464658	109464658	Human		name
156066521	CV2270781	single nucleotide variant	NM_177531.6(PKHD1L1):c.5558G>A (p.Gly1853Glu)	not specified [RCV004131837]	uncertain significance	8	109445427	109445427	Human		name
156228897	CV2273590	single nucleotide variant	NM_177531.6(PKHD1L1):c.4330A>T (p.Ser1444Cys)	not specified [RCV004134110]	uncertain significance	8	109442132	109442132	Human		name
155900920	CV2275288	single nucleotide variant	NM_177531.6(PKHD1L1):c.6722T>C (p.Ile2241Thr)	not specified [RCV004137065]	uncertain significance	8	109454224	109454224	Human		name
155906814	CV2279449	single nucleotide variant	NM_177531.6(PKHD1L1):c.3555G>T (p.Lys1185Asn)	not specified [RCV004141983]	uncertain significance	8	109436387	109436387	Human		name
156249730	CV2286643	single nucleotide variant	NM_177531.6(PKHD1L1):c.4917C>A (p.Asn1639Lys)	not specified [RCV004142487]	uncertain significance	8	109444786	109444786	Human		name
156288076	CV2288458	single nucleotide variant	NM_177531.6(PKHD1L1):c.4216G>A (p.Gly1406Ser)	not specified [RCV004152002]	uncertain significance	8	109442018	109442018	Human		name
156150378	CV2289654	single nucleotide variant	NM_177531.6(PKHD1L1):c.7906G>A (p.Gly2636Arg)	not specified [RCV004148566]	uncertain significance	8	109464738	109464738	Human		name
155941359	CV2294237	single nucleotide variant	NM_177531.6(PKHD1L1):c.7676C>T (p.Pro2559Leu)	not specified [RCV004149587]	uncertain significance	8	109464508	109464508	Human		name
155944047	CV2294957	single nucleotide variant	NM_177531.6(PKHD1L1):c.8422G>A (p.Gly2808Arg)	not specified [RCV004156104]	uncertain significance	8	109466586	109466586	Human		name
156087450	CV2295425	single nucleotide variant	NM_177531.6(PKHD1L1):c.9680A>G (p.Asn3227Ser)	not specified [RCV004160547]	uncertain significance	8	109485147	109485147	Human		name
156175658	CV2299658	single nucleotide variant	NM_177531.6(PKHD1L1):c.9206T>C (p.Met3069Thr)	not specified [RCV004154973]	uncertain significance	8	109480018	109480018	Human		name
155950803	CV2302079	single nucleotide variant	NM_177531.6(PKHD1L1):c.3826T>C (p.Tyr1276His)	not specified [RCV004158837]	uncertain significance	8	109438962	109438962	Human		name
156053755	CV2308601	single nucleotide variant	NM_177531.6(PKHD1L1):c.9235G>A (p.Gly3079Arg)	not specified [RCV004167160]	uncertain significance	8	109480047	109480047	Human		name
156038532	CV2313650	single nucleotide variant	NM_177531.6(PKHD1L1):c.6749G>C (p.Gly2250Ala)	not specified [RCV004157581]	uncertain significance	8	109454727	109454727	Human		name
156049501	CV2315858	single nucleotide variant	NM_177531.6(PKHD1L1):c.7195A>G (p.Asn2399Asp)	not specified [RCV004171635]	uncertain significance	8	109459785	109459785	Human		name
156066623	CV2323929	single nucleotide variant	NM_177531.6(PKHD1L1):c.8926A>G (p.Arg2976Gly)	not specified [RCV004176455]	uncertain significance	8	109477233	109477233	Human		name
156052160	CV2329001	single nucleotide variant	NM_177531.6(PKHD1L1):c.7285G>C (p.Gly2429Arg)	not specified [RCV004180290]	uncertain significance	8	109461810	109461810	Human		name
156199845	CV2331460	single nucleotide variant	NM_177531.6(PKHD1L1):c.6406T>G (p.Tyr2136Asp)	not specified [RCV004184092]	uncertain significance	8	109452179	109452179	Human		name
156203982	CV2331571	single nucleotide variant	NM_177531.6(PKHD1L1):c.3581A>G (p.Asn1194Ser)	not specified [RCV004184212]	uncertain significance	8	109436413	109436413	Human		name
156066123	CV2340880	single nucleotide variant	NM_177531.6(PKHD1L1):c.7892T>A (p.Phe2631Tyr)	not specified [RCV004188236]	uncertain significance	8	109464724	109464724	Human		name
156084785	CV2343337	single nucleotide variant	NM_177531.6(PKHD1L1):c.5134T>C (p.Cys1712Arg)	not specified [RCV004194953]	uncertain significance	8	109445003	109445003	Human		name
156222852	CV2343997	single nucleotide variant	NM_177531.6(PKHD1L1):c.5648G>A (p.Arg1883His)	not specified [RCV004195614]	likely benign	8	109445517	109445517	Human		name
156065542	CV2346550	single nucleotide variant	NM_177531.6(PKHD1L1):c.7150G>C (p.Glu2384Gln)	not specified [RCV004206465]	uncertain significance	8	109459740	109459740	Human		name
156231006	CV2348728	single nucleotide variant	NM_177531.6(PKHD1L1):c.4252G>A (p.Val1418Met)	not specified [RCV004201138]	uncertain significance	8	109442054	109442054	Human		name
155921317	CV2350647	single nucleotide variant	NM_177531.6(PKHD1L1):c.4961G>A (p.Arg1654Gln)	not specified [RCV004204985]	uncertain significance	8	109444830	109444830	Human		name
156078001	CV2351080	single nucleotide variant	NM_177531.6(PKHD1L1):c.7858G>T (p.Gly2620Cys)	not specified [RCV004213946]	uncertain significance	8	109464690	109464690	Human		name
155929227	CV2363468	single nucleotide variant	NM_177531.6(PKHD1L1):c.6427A>G (p.Ile2143Val)	not specified [RCV004216042]	uncertain significance	8	109452200	109452200	Human		name
156213500	CV2367093	single nucleotide variant	NM_177531.6(PKHD1L1):c.4895C>G (p.Thr1632Ser)	not specified [RCV004215537]	uncertain significance	8	109444764	109444764	Human		name
156304987	CV2369297	single nucleotide variant	NM_177531.6(PKHD1L1):c.9403A>G (p.Thr3135Ala)	not specified [RCV004208209]	uncertain significance	8	109481508	109481508	Human		name
156189583	CV2375599	single nucleotide variant	NM_177531.6(PKHD1L1):c.9508A>T (p.Thr3170Ser)	not provided [RCV005099131]\|not specified [RCV004226084]	uncertain significance	8	109483037	109483037	Human		name
156090595	CV2384505	single nucleotide variant	NM_177531.6(PKHD1L1):c.7121C>A (p.Pro2374His)	not specified [RCV004230300]	uncertain significance	8	109459711	109459711	Human		name
156191525	CV2385244	single nucleotide variant	NM_177531.6(PKHD1L1):c.8417A>G (p.His2806Arg)	not specified [RCV004228488]	uncertain significance	8	109466581	109466581	Human		name
156046446	CV2385327	single nucleotide variant	NM_177531.6(PKHD1L1):c.3151G>A (p.Ala1051Thr)	not specified [RCV004230605]	uncertain significance	8	109429959	109429959	Human		name
156113248	CV2397024	single nucleotide variant	NM_177531.6(PKHD1L1):c.7759C>T (p.Arg2587Trp)	not specified [RCV004236541]	uncertain significance	8	109464591	109464591	Human		name
329382152	CV2424348	single nucleotide variant	NM_177531.6(PKHD1L1):c.8971C>G (p.Pro2991Ala)	not specified [RCV004252252]	uncertain significance	8	109477278	109477278	Human		name
329376564	CV2438130	single nucleotide variant	NM_177531.6(PKHD1L1):c.3052A>G (p.Ile1018Val)	not specified [RCV004256910]	uncertain significance	8	109429391	109429391	Human		name
329366189	CV2438211	single nucleotide variant	NM_177531.6(PKHD1L1):c.3844T>C (p.Cys1282Arg)	not specified [RCV004256978]	uncertain significance	8	109438980	109438980	Human		name
329399531	CV2443205	single nucleotide variant	NM_177531.6(PKHD1L1):c.6651G>C (p.Met2217Ile)	not specified [RCV004260019]	uncertain significance	8	109452861	109452861	Human		name
329366512	CV2445791	single nucleotide variant	NM_177531.6(PKHD1L1):c.4702A>G (p.Ile1568Val)	not specified [RCV004259849]	uncertain significance	8	109443813	109443813	Human		name
329394865	CV2457689	single nucleotide variant	NM_177531.6(PKHD1L1):c.7381G>C (p.Glu2461Gln)	not specified [RCV004269537]	uncertain significance	8	109461906	109461906	Human		name
329395305	CV2457889	single nucleotide variant	NM_177531.6(PKHD1L1):c.5972C>T (p.Ser1991Phe)	not specified [RCV004271481]	uncertain significance	8	109448338	109448338	Human		name
329398716	CV2471670	single nucleotide variant	NM_177531.6(PKHD1L1):c.4252G>T (p.Val1418Leu)	not specified [RCV004286956]	uncertain significance	8	109442054	109442054	Human		name
401735842	CV2672755	single nucleotide variant	NM_177531.6(PKHD1L1):c.3824T>C (p.Val1275Ala)	not specified [RCV004287765]	uncertain significance	8	109438960	109438960	Human		name
401735977	CV2672791	single nucleotide variant	NM_177531.6(PKHD1L1):c.5614A>C (p.Ile1872Leu)	not specified [RCV004281572]	uncertain significance	8	109445483	109445483	Human		name
401766548	CV2676205	single nucleotide variant	NM_177531.6(PKHD1L1):c.3081T>A (p.His1027Gln)	not specified [RCV004286252]	uncertain significance	8	109429420	109429420	Human		name
401730490	CV2677193	single nucleotide variant	NM_177531.6(PKHD1L1):c.3019A>G (p.Ile1007Val)	not specified [RCV004295820]	uncertain significance	8	109429358	109429358	Human		name
401774068	CV2691505	single nucleotide variant	NM_177531.6(PKHD1L1):c.7109C>T (p.Thr2370Met)	not specified [RCV004305347]	uncertain significance	8	109459699	109459699	Human		name
401757383	CV2692964	single nucleotide variant	NM_177531.6(PKHD1L1):c.7478G>A (p.Cys2493Tyr)	not specified [RCV004306476]	uncertain significance	8	109464310	109464310	Human		name
401725195	CV2697308	single nucleotide variant	NM_177531.6(PKHD1L1):c.4535T>G (p.Val1512Gly)	not specified [RCV004304066]	uncertain significance	8	109443087	109443087	Human		name
401772657	CV2712844	single nucleotide variant	NM_177531.6(PKHD1L1):c.6758C>T (p.Thr2253Ile)	not specified [RCV004314259]	uncertain significance	8	109454736	109454736	Human		name
401743295	CV2715446	single nucleotide variant	NM_177531.6(PKHD1L1):c.9638G>A (p.Ser3213Asn)	not specified [RCV004324762]	uncertain significance	8	109485105	109485105	Human		name
401773480	CV2716585	single nucleotide variant	NM_177531.6(PKHD1L1):c.3134A>G (p.Tyr1045Cys)	not specified [RCV004327660]	uncertain significance	8	109429942	109429942	Human		name
401737259	CV2718048	single nucleotide variant	NM_177531.6(PKHD1L1):c.3520A>C (p.Thr1174Pro)	not specified [RCV004315773]	uncertain significance	8	109436352	109436352	Human		name
401780877	CV2720816	single nucleotide variant	NM_177531.6(PKHD1L1):c.6869T>C (p.Leu2290Pro)	not specified [RCV004329942]	uncertain significance	8	109454847	109454847	Human		name
401766512	CV2725591	single nucleotide variant	NM_177531.6(PKHD1L1):c.9475G>T (p.Asp3159Tyr)	not specified [RCV004321978]	uncertain significance	8	109483004	109483004	Human		name
401781509	CV2731641	single nucleotide variant	NM_177531.6(PKHD1L1):c.3236A>G (p.Tyr1079Cys)	not specified [RCV004331748]	uncertain significance	8	109433112	109433112	Human		name
401879892	CV2755316	single nucleotide variant	NM_177531.6(PKHD1L1):c.5463G>C (p.Leu1821Phe)	not specified [RCV004337487]	uncertain significance	8	109445332	109445332	Human		name
401855452	CV2757382	single nucleotide variant	NM_177531.6(PKHD1L1):c.5285C>G (p.Ser1762Cys)	not specified [RCV004340783]	uncertain significance	8	109445154	109445154	Human		name
401860995	CV2758701	single nucleotide variant	NM_177531.6(PKHD1L1):c.9941G>A (p.Ser3314Asn)	not specified [RCV004337765]	uncertain significance	8	109490012	109490012	Human		name
401862573	CV2762227	single nucleotide variant	NM_177531.6(PKHD1L1):c.5033C>T (p.Thr1678Ile)	not specified [RCV004335354]	uncertain significance	8	109444902	109444902	Human		name
401896326	CV2774009	single nucleotide variant	NM_177531.6(PKHD1L1):c.4525C>T (p.His1509Tyr)	not specified [RCV004358417]	uncertain significance	8	109443077	109443077	Human		name
401882125	CV2774706	single nucleotide variant	NM_177531.6(PKHD1L1):c.8444G>A (p.Ser2815Asn)	not specified [RCV004343811]	uncertain significance	8	109466608	109466608	Human		name
401862390	CV2775279	single nucleotide variant	NM_177531.6(PKHD1L1):c.8716A>G (p.Ile2906Val)	not specified [RCV004348400]	uncertain significance	8	109475228	109475228	Human		name
401860646	CV2776122	single nucleotide variant	NM_177531.6(PKHD1L1):c.6193G>A (p.Ala2065Thr)	not specified [RCV004353221]	uncertain significance	8	109450992	109450992	Human		name
401895771	CV2778771	single nucleotide variant	NM_177531.6(PKHD1L1):c.5777G>T (p.Gly1926Val)	not specified [RCV004346676]	uncertain significance	8	109448143	109448143	Human		name
401896397	CV2781247	single nucleotide variant	NM_177531.6(PKHD1L1):c.3865T>G (p.Phe1289Val)	not specified [RCV004352281]	uncertain significance	8	109439001	109439001	Human		name
401897192	CV2789804	single nucleotide variant	NM_177531.6(PKHD1L1):c.7793A>G (p.Asp2598Gly)	not specified [RCV004362199]	uncertain significance	8	109464625	109464625	Human		name
401924108	CV2821233	single nucleotide variant	NM_177531.6(PKHD1L1):c.3613T>G (p.Cys1205Gly)	not provided [RCV003435591]	uncertain significance	8	109436445	109436445	Human		name
401909284	CV2821234	single nucleotide variant	NM_177531.6(PKHD1L1):c.4289C>T (p.Pro1430Leu)	not provided [RCV003423974]	likely benign	8	109442091	109442091	Human		name
405267806	CV3186913	single nucleotide variant	NM_177531.6(PKHD1L1):c.8339C>G (p.Ser2780Cys)	not provided [RCV003886996]	uncertain significance	8	109465171	109465171	Human		name
405293496	CV3192668	single nucleotide variant	NM_177531.6(PKHD1L1):c.9835C>T (p.Arg3279Cys)	PKHD1L1-related disorder [RCV003931878]	likely benign	8	109486776	109486776	Human		name , trait , alternate_id
405256243	CV3208747	single nucleotide variant	NM_177531.6(PKHD1L1):c.7904C>T (p.Thr2635Met)	PKHD1L1-related disorder [RCV003939796]	likely benign	8	109464736	109464736	Human		name , trait , alternate_id
405651035	CV3365578	single nucleotide variant	NM_177531.6(PKHD1L1):c.3040A>G (p.Thr1014Ala)	not specified [RCV004509089]	uncertain significance	8	109429379	109429379	Human		name
405651037	CV3365579	single nucleotide variant	NM_177531.6(PKHD1L1):c.3053T>C (p.Ile1018Thr)	not specified [RCV004509090]	uncertain significance	8	109429392	109429392	Human		name
405651087	CV3365580	single nucleotide variant	NM_177531.6(PKHD1L1):c.3101G>A (p.Arg1034His)	not specified [RCV004509091]	uncertain significance	8	109429440	109429440	Human		name
405651089	CV3365581	single nucleotide variant	NM_177531.6(PKHD1L1):c.3200C>T (p.Pro1067Leu)	not specified [RCV004509092]	uncertain significance	8	109430008	109430008	Human		name
405651091	CV3365582	single nucleotide variant	NM_177531.6(PKHD1L1):c.3254T>C (p.Leu1085Pro)	not specified [RCV004509093]	uncertain significance	8	109433130	109433130	Human		name
405651092	CV3365583	single nucleotide variant	NM_177531.6(PKHD1L1):c.3320G>T (p.Cys1107Phe)	not specified [RCV004509094]	uncertain significance	8	109433196	109433196	Human		name
405651094	CV3365584	single nucleotide variant	NM_177531.6(PKHD1L1):c.3334G>A (p.Val1112Met)	not specified [RCV004509095]	uncertain significance	8	109433210	109433210	Human		name
405651096	CV3365585	single nucleotide variant	NM_177531.6(PKHD1L1):c.3369T>A (p.Asn1123Lys)	not specified [RCV004509096]	uncertain significance	8	109435218	109435218	Human		name
405651098	CV3365586	single nucleotide variant	NM_177531.6(PKHD1L1):c.3698G>C (p.Ser1233Thr)	not specified [RCV004509097]	uncertain significance	8	109438394	109438394	Human		name
405651099	CV3365587	single nucleotide variant	NM_177531.6(PKHD1L1):c.3758T>A (p.Leu1253Gln)	not specified [RCV004509098]	uncertain significance	8	109438454	109438454	Human		name
405651101	CV3365588	single nucleotide variant	NM_177531.6(PKHD1L1):c.3835G>A (p.Gly1279Arg)	not specified [RCV004509099]	uncertain significance	8	109438971	109438971	Human		name
405651102	CV3365589	single nucleotide variant	NM_177531.6(PKHD1L1):c.3842C>T (p.Thr1281Ile)	not specified [RCV004509100]	uncertain significance	8	109438978	109438978	Human		name
405651104	CV3365590	single nucleotide variant	NM_177531.6(PKHD1L1):c.4144A>G (p.Lys1382Glu)	not specified [RCV004509101]	uncertain significance	8	109441319	109441319	Human		name
405651109	CV3365593	single nucleotide variant	NM_177531.6(PKHD1L1):c.4333C>A (p.Pro1445Thr)	not specified [RCV004509104]	uncertain significance	8	109442135	109442135	Human		name
405651113	CV3365595	single nucleotide variant	NM_177531.6(PKHD1L1):c.4396T>C (p.Ser1466Pro)	not specified [RCV004509106]	uncertain significance	8	109442948	109442948	Human		name
405651115	CV3365596	single nucleotide variant	NM_177531.6(PKHD1L1):c.4448A>G (p.Tyr1483Cys)	not specified [RCV004509107]	uncertain significance	8	109443000	109443000	Human		name
405651117	CV3365597	single nucleotide variant	NM_177531.6(PKHD1L1):c.4492G>A (p.Val1498Ile)	not specified [RCV004509108]	uncertain significance	8	109443044	109443044	Human		name
405651121	CV3365599	single nucleotide variant	NM_177531.6(PKHD1L1):c.4576A>G (p.Asn1526Asp)	not specified [RCV004509110]	uncertain significance	8	109443687	109443687	Human		name
405651123	CV3365600	single nucleotide variant	NM_177531.6(PKHD1L1):c.4801G>T (p.Gly1601Cys)	not specified [RCV004509111]	uncertain significance	8	109444670	109444670	Human		name
405651125	CV3365601	single nucleotide variant	NM_177531.6(PKHD1L1):c.4955A>G (p.Asp1652Gly)	not specified [RCV004509112]	uncertain significance	8	109444824	109444824	Human		name
405651130	CV3365603	single nucleotide variant	NM_177531.6(PKHD1L1):c.5183T>C (p.Ile1728Thr)	not specified [RCV004509114]	uncertain significance	8	109445052	109445052	Human		name
405651131	CV3365604	single nucleotide variant	NM_177531.6(PKHD1L1):c.5194C>T (p.Pro1732Ser)	not specified [RCV004509115]	uncertain significance	8	109445063	109445063	Human		name
405651133	CV3365605	single nucleotide variant	NM_177531.6(PKHD1L1):c.5197G>C (p.Ala1733Pro)	not specified [RCV004509116]	uncertain significance	8	109445066	109445066	Human		name
405651135	CV3365606	single nucleotide variant	NM_177531.6(PKHD1L1):c.5312G>A (p.Gly1771Asp)	not specified [RCV004509117]	uncertain significance	8	109445181	109445181	Human		name
405651137	CV3365607	single nucleotide variant	NM_177531.6(PKHD1L1):c.5474A>G (p.Asn1825Ser)	not specified [RCV004509118]	uncertain significance	8	109445343	109445343	Human		name
405651139	CV3365608	single nucleotide variant	NM_177531.6(PKHD1L1):c.5594T>C (p.Ile1865Thr)	not specified [RCV004509119]	uncertain significance	8	109445463	109445463	Human		name
405651140	CV3365609	single nucleotide variant	NM_177531.6(PKHD1L1):c.5633A>G (p.Asn1878Ser)	not specified [RCV004509120]	likely benign	8	109445502	109445502	Human		name
405651142	CV3365610	single nucleotide variant	NM_177531.6(PKHD1L1):c.5644T>G (p.Cys1882Gly)	not specified [RCV004509121]	uncertain significance	8	109445513	109445513	Human		name
405651146	CV3365612	single nucleotide variant	NM_177531.6(PKHD1L1):c.5821T>C (p.Phe1941Leu)	not specified [RCV004509123]	uncertain significance	8	109448187	109448187	Human		name
405651149	CV3365613	single nucleotide variant	NM_177531.6(PKHD1L1):c.5826G>C (p.Glu1942Asp)	not specified [RCV004509124]	likely benign	8	109448192	109448192	Human		name
405651150	CV3365614	single nucleotide variant	NM_177531.6(PKHD1L1):c.5917G>A (p.Ala1973Thr)	not specified [RCV004509125]	uncertain significance	8	109448283	109448283	Human		name
405651152	CV3365615	single nucleotide variant	NM_177531.6(PKHD1L1):c.5993C>T (p.Pro1998Leu)	not specified [RCV004509126]	uncertain significance	8	109448359	109448359	Human		name
405651153	CV3365616	single nucleotide variant	NM_177531.6(PKHD1L1):c.6013A>G (p.Asn2005Asp)	not specified [RCV004509127]	uncertain significance	8	109448379	109448379	Human		name
405651155	CV3365617	single nucleotide variant	NM_177531.6(PKHD1L1):c.6193G>T (p.Ala2065Ser)	not specified [RCV004509128]	uncertain significance	8	109450992	109450992	Human		name
405651159	CV3365619	single nucleotide variant	NM_177531.6(PKHD1L1):c.6313G>T (p.Gly2105Trp)	not specified [RCV004509130]	uncertain significance	8	109451112	109451112	Human		name
405651162	CV3365620	single nucleotide variant	NM_177531.6(PKHD1L1):c.6443C>T (p.Ala2148Val)	not specified [RCV004509131]	uncertain significance	8	109452216	109452216	Human		name
405651164	CV3365621	single nucleotide variant	NM_177531.6(PKHD1L1):c.6515C>T (p.Ala2172Val)	not specified [RCV004509132]	uncertain significance	8	109452725	109452725	Human		name
405651166	CV3365622	single nucleotide variant	NM_177531.6(PKHD1L1):c.6566A>T (p.Lys2189Ile)	not specified [RCV004509133]	uncertain significance	8	109452776	109452776	Human		name
405651168	CV3365623	single nucleotide variant	NM_177531.6(PKHD1L1):c.6754G>A (p.Glu2252Lys)	not specified [RCV004509134]	uncertain significance	8	109454732	109454732	Human		name
405651172	CV3365625	single nucleotide variant	NM_177531.6(PKHD1L1):c.7201G>A (p.Glu2401Lys)	not specified [RCV004509136]	uncertain significance	8	109459791	109459791	Human		name
405651174	CV3365626	single nucleotide variant	NM_177531.6(PKHD1L1):c.7262A>G (p.Gln2421Arg)	not specified [RCV004509137]	uncertain significance	8	109461787	109461787	Human		name
405651177	CV3365628	single nucleotide variant	NM_177531.6(PKHD1L1):c.7306C>A (p.Gln2436Lys)	not specified [RCV004509139]	uncertain significance	8	109461831	109461831	Human		name
405651182	CV3365630	single nucleotide variant	NM_177531.6(PKHD1L1):c.7775C>T (p.Pro2592Leu)	not specified [RCV004509141]	uncertain significance	8	109464607	109464607	Human		name
405651185	CV3365632	single nucleotide variant	NM_177531.6(PKHD1L1):c.8090G>A (p.Gly2697Asp)	not specified [RCV004509143]	uncertain significance	8	109464922	109464922	Human		name
405651187	CV3365633	single nucleotide variant	NM_177531.6(PKHD1L1):c.8113A>G (p.Lys2705Glu)	not specified [RCV004509144]	uncertain significance	8	109464945	109464945	Human		name
405651191	CV3365635	single nucleotide variant	NM_177531.6(PKHD1L1):c.8243G>A (p.Arg2748His)	not specified [RCV004509146]	uncertain significance	8	109465075	109465075	Human		name
405651195	CV3365637	single nucleotide variant	NM_177531.6(PKHD1L1):c.8464C>T (p.His2822Tyr)	not specified [RCV004509148]	uncertain significance	8	109466628	109466628	Human		name
405651197	CV3365638	single nucleotide variant	NM_177531.6(PKHD1L1):c.8465A>T (p.His2822Leu)	not specified [RCV004509149]	uncertain significance	8	109466629	109466629	Human		name
405651202	CV3365640	single nucleotide variant	NM_177531.6(PKHD1L1):c.8819T>C (p.Ile2940Thr)	not specified [RCV004509151]	uncertain significance	8	109476569	109476569	Human		name
405651203	CV3365641	single nucleotide variant	NM_177531.6(PKHD1L1):c.8833G>C (p.Gly2945Arg)	not specified [RCV004509152]	uncertain significance	8	109476583	109476583	Human		name
405651205	CV3365642	single nucleotide variant	NM_177531.6(PKHD1L1):c.8932G>C (p.Asp2978His)	not specified [RCV004509153]	uncertain significance	8	109477239	109477239	Human		name
405651207	CV3365643	single nucleotide variant	NM_177531.6(PKHD1L1):c.9026A>T (p.Asp3009Val)	not specified [RCV004509154]	uncertain significance	8	109477333	109477333	Human		name
405651208	CV3365644	single nucleotide variant	NM_177531.6(PKHD1L1):c.9643G>A (p.Val3215Ile)	not specified [RCV004509155]	uncertain significance	8	109485110	109485110	Human		name
405651210	CV3365645	single nucleotide variant	NM_177531.6(PKHD1L1):c.9770T>A (p.Leu3257Gln)	not specified [RCV004509156]	uncertain significance	8	109486711	109486711	Human		name
405651212	CV3365646	single nucleotide variant	NM_177531.6(PKHD1L1):c.9925G>A (p.Glu3309Lys)	not specified [RCV004509157]	uncertain significance	8	109489996	109489996	Human		name
405673905	CV3380119	single nucleotide variant	NM_177531.6(PKHD1L1):c.3941G>T (p.Gly1314Val)	Autosomal recessive nonsyndromic hearing loss 124 [RCV004515820]	pathogenic	8	109439077	109439077	Human	1	name
405673913	CV3380121	single nucleotide variant	NM_177531.6(PKHD1L1):c.7437C>A (p.His2479Gln)	Autosomal recessive nonsyndromic hearing loss 124 [RCV004515822]	pathogenic	8	109464269	109464269	Human	1	name
407512527	CV3460491	single nucleotide variant	NM_177531.6(PKHD1L1):c.5545C>A (p.Leu1849Met)	not specified [RCV004648458]	uncertain significance	8	109445414	109445414	Human		name
407512528	CV3460492	single nucleotide variant	NM_177531.6(PKHD1L1):c.6041G>A (p.Gly2014Asp)	not specified [RCV004648459]	uncertain significance	8	109449353	109449353	Human		name
407512531	CV3460495	single nucleotide variant	NM_177531.6(PKHD1L1):c.5245C>T (p.Pro1749Ser)	not specified [RCV004648460]	uncertain significance	8	109445114	109445114	Human		name
407531066	CV3460497	single nucleotide variant	NM_177531.6(PKHD1L1):c.3493G>A (p.Gly1165Arg)	not specified [RCV004657406]	uncertain significance	8	109435342	109435342	Human		name
407531068	CV3460499	single nucleotide variant	NM_177531.6(PKHD1L1):c.4238T>C (p.Val1413Ala)	not specified [RCV004657407]	uncertain significance	8	109442040	109442040	Human		name
407512538	CV3460502	single nucleotide variant	NM_177531.6(PKHD1L1):c.3430G>A (p.Val1144Ile)	not specified [RCV004648463]	uncertain significance	8	109435279	109435279	Human		name
407531072	CV3460504	single nucleotide variant	NM_177531.6(PKHD1L1):c.8373A>T (p.Glu2791Asp)	not specified [RCV004657409]	uncertain significance	8	109465205	109465205	Human		name
407531074	CV3460505	single nucleotide variant	NM_177531.6(PKHD1L1):c.6827A>G (p.Tyr2276Cys)	not specified [RCV004657410]	uncertain significance	8	109454805	109454805	Human		name
407512547	CV3460508	single nucleotide variant	NM_177531.6(PKHD1L1):c.4168A>G (p.Asn1390Asp)	not specified [RCV004648466]	uncertain significance	8	109441343	109441343	Human		name
407512550	CV3460509	single nucleotide variant	NM_177531.6(PKHD1L1):c.4624C>G (p.Leu1542Val)	not specified [RCV004648467]	uncertain significance	8	109443735	109443735	Human		name
407512553	CV3460510	single nucleotide variant	NM_177531.6(PKHD1L1):c.6723T>G (p.Ile2241Met)	not specified [RCV004648468]	uncertain significance	8	109454225	109454225	Human		name
407512558	CV3460512	single nucleotide variant	NM_177531.6(PKHD1L1):c.6523C>T (p.Leu2175Phe)	not specified [RCV004648470]	uncertain significance	8	109452733	109452733	Human		name
407512566	CV3460516	single nucleotide variant	NM_177531.6(PKHD1L1):c.8372A>G (p.Glu2791Gly)	not specified [RCV004648473]	uncertain significance	8	109465204	109465204	Human		name
407512569	CV3460517	single nucleotide variant	NM_177531.6(PKHD1L1):c.4108C>A (p.Pro1370Thr)	not specified [RCV004648474]	uncertain significance	8	109441283	109441283	Human		name
407512575	CV3460520	single nucleotide variant	NM_177531.6(PKHD1L1):c.4808A>C (p.Tyr1603Ser)	not specified [RCV004648476]	uncertain significance	8	109444677	109444677	Human		name
407531081	CV3460521	single nucleotide variant	NM_177531.6(PKHD1L1):c.8564T>C (p.Val2855Ala)	not specified [RCV004657414]	uncertain significance	8	109466728	109466728	Human		name
407531083	CV3460522	single nucleotide variant	NM_177531.6(PKHD1L1):c.4069A>T (p.Thr1357Ser)	not specified [RCV004657415]	uncertain significance	8	109440822	109440822	Human		name
407512581	CV3460524	single nucleotide variant	NM_177531.6(PKHD1L1):c.9790G>A (p.Val3264Ile)	not specified [RCV004648478]	likely benign	8	109486731	109486731	Human		name
407531086	CV3460525	single nucleotide variant	NM_177531.6(PKHD1L1):c.3206T>C (p.Val1069Ala)	not specified [RCV004657416]	uncertain significance	8	109430014	109430014	Human		name
407531088	CV3460527	single nucleotide variant	NM_177531.6(PKHD1L1):c.4088C>A (p.Thr1363Asn)	not specified [RCV004657417]	uncertain significance	8	109440841	109440841	Human		name
407531092	CV3460529	single nucleotide variant	NM_177531.6(PKHD1L1):c.3724A>G (p.Ile1242Val)	not specified [RCV004657419]	uncertain significance	8	109438420	109438420	Human		name
407512585	CV3460532	single nucleotide variant	NM_177531.6(PKHD1L1):c.3199C>A (p.Pro1067Thr)	not specified [RCV004648480]	uncertain significance	8	109430007	109430007	Human		name
407531098	CV3460534	single nucleotide variant	NM_177531.6(PKHD1L1):c.5873C>T (p.Thr1958Ile)	not specified [RCV004657422]	uncertain significance	8	109448239	109448239	Human		name
407512592	CV3460537	single nucleotide variant	NM_177531.6(PKHD1L1):c.8090G>T (p.Gly2697Val)	not specified [RCV004648483]	uncertain significance	8	109464922	109464922	Human		name
408383282	CV3504947	single nucleotide variant	NM_177531.6(PKHD1L1):c.4891G>A (p.Glu1631Lys)	PKHD1L1-related disorder [RCV004730496]	likely benign	8	109444760	109444760	Human		name , trait , alternate_id
408367595	CV3509653	single nucleotide variant	NM_177531.6(PKHD1L1):c.5494C>T (p.Pro1832Ser)	PKHD1L1-related disorder [RCV004759017]	likely benign	8	109445363	109445363	Human		name , trait , alternate_id
408367649	CV3511890	single nucleotide variant	NM_177531.6(PKHD1L1):c.8005C>T (p.Gln2669Ter)	PKHD1L1-related disorder [RCV004759102]	likely benign	8	109464837	109464837	Human		name , trait , alternate_id
408367739	CV3513380	single nucleotide variant	NM_177531.6(PKHD1L1):c.9307G>C (p.Ala3103Pro)	PKHD1L1-related disorder [RCV004759162]	likely benign	8	109480119	109480119	Human		name , trait , alternate_id
408367845	CV3517170	single nucleotide variant	NM_177531.6(PKHD1L1):c.7204T>C (p.Trp2402Arg)	PKHD1L1-related disorder [RCV004759257]	likely benign	8	109459794	109459794	Human		name , trait , alternate_id
408367807	CV3517237	single nucleotide variant	NM_177531.6(PKHD1L1):c.7468G>A (p.Val2490Ile)	PKHD1L1-related disorder [RCV004759260]	uncertain significance	8	109464300	109464300	Human		name , trait , alternate_id
596947001	CV3547062	single nucleotide variant	NM_177531.6(PKHD1L1):c.5648G>T (p.Arg1883Leu)	not provided [RCV004810868]	likely benign	8	109445517	109445517	Human		name
597702200	CV3572756	single nucleotide variant	NM_177531.6(PKHD1L1):c.9419C>A (p.Ala3140Asp)	not specified [RCV004839921]	uncertain significance	8	109481524	109481524	Human		name
597702210	CV3572757	single nucleotide variant	NM_177531.6(PKHD1L1):c.3407C>T (p.Ala1136Val)	not specified [RCV004839922]	uncertain significance	8	109435256	109435256	Human		name
597767570	CV3572759	single nucleotide variant	NM_177531.6(PKHD1L1):c.9203A>T (p.Asp3068Val)	not specified [RCV004850506]	uncertain significance	8	109480015	109480015	Human		name
597702227	CV3572760	single nucleotide variant	NM_177531.6(PKHD1L1):c.3242A>G (p.Glu1081Gly)	not specified [RCV004839924]	uncertain significance	8	109433118	109433118	Human		name
597702239	CV3572761	single nucleotide variant	NM_177531.6(PKHD1L1):c.6700C>T (p.Leu2234Phe)	not specified [RCV004839925]	uncertain significance	8	109454202	109454202	Human		name
597702247	CV3572762	single nucleotide variant	NM_177531.6(PKHD1L1):c.5939T>C (p.Met1980Thr)	not specified [RCV004839926]	likely benign	8	109448305	109448305	Human		name
597702258	CV3572764	single nucleotide variant	NM_177531.6(PKHD1L1):c.3148C>G (p.Pro1050Ala)	not specified [RCV004839927]	uncertain significance	8	109429956	109429956	Human		name
597702289	CV3572767	single nucleotide variant	NM_177531.6(PKHD1L1):c.3485C>G (p.Pro1162Arg)	not specified [RCV004839930]	uncertain significance	8	109435334	109435334	Human		name
597702301	CV3572768	single nucleotide variant	NM_177531.6(PKHD1L1):c.4887C>G (p.Ile1629Met)	not specified [RCV004839931]	uncertain significance	8	109444756	109444756	Human		name
597702347	CV3572772	single nucleotide variant	NM_177531.6(PKHD1L1):c.3898T>G (p.Ser1300Ala)	not specified [RCV004839935]	uncertain significance	8	109439034	109439034	Human		name
597702358	CV3572773	single nucleotide variant	NM_177531.6(PKHD1L1):c.5042G>T (p.Gly1681Val)	not specified [RCV004839936]	uncertain significance	8	109444911	109444911	Human		name
597767579	CV3572776	single nucleotide variant	NM_177531.6(PKHD1L1):c.8411C>T (p.Thr2804Ile)	not specified [RCV004850508]	uncertain significance	8	109465243	109465243	Human		name
597702381	CV3572777	single nucleotide variant	NM_177531.6(PKHD1L1):c.9948T>A (p.Asp3316Glu)	not specified [RCV004839938]	uncertain significance	8	109490019	109490019	Human		name
597767583	CV3572778	single nucleotide variant	NM_177531.6(PKHD1L1):c.3686G>A (p.Arg1229Lys)	not specified [RCV004850509]	likely benign	8	109438382	109438382	Human		name
597767588	CV3572781	single nucleotide variant	NM_177531.6(PKHD1L1):c.5969T>C (p.Met1990Thr)	not specified [RCV004850510]	uncertain significance	8	109448335	109448335	Human		name
597702418	CV3572783	single nucleotide variant	NM_177531.6(PKHD1L1):c.9485G>A (p.Gly3162Glu)	not specified [RCV004839942]	uncertain significance	8	109483014	109483014	Human		name
597702428	CV3572784	single nucleotide variant	NM_177531.6(PKHD1L1):c.6100T>G (p.Cys2034Gly)	not specified [RCV004839943]	uncertain significance	8	109449412	109449412	Human		name
597702470	CV3572790	single nucleotide variant	NM_177531.6(PKHD1L1):c.8011C>T (p.His2671Tyr)	not specified [RCV004839948]	uncertain significance	8	109464843	109464843	Human		name
597702506	CV3572793	single nucleotide variant	NM_177531.6(PKHD1L1):c.4733T>C (p.Val1578Ala)	not specified [RCV004839951]	uncertain significance	8	109443844	109443844	Human		name
597702539	CV3572797	single nucleotide variant	NM_177531.6(PKHD1L1):c.9980G>C (p.Gly3327Ala)	not specified [RCV004839955]	uncertain significance	8	109490051	109490051	Human		name
597702572	CV3572800	single nucleotide variant	NM_177531.6(PKHD1L1):c.3407C>A (p.Ala1136Asp)	not specified [RCV004839958]	uncertain significance	8	109435256	109435256	Human		name
597702585	CV3572801	single nucleotide variant	NM_177531.6(PKHD1L1):c.4631G>A (p.Ser1544Asn)	not specified [RCV004839959]	uncertain significance	8	109443742	109443742	Human		name
597702595	CV3572802	single nucleotide variant	NM_177531.6(PKHD1L1):c.3740C>T (p.Pro1247Leu)	not specified [RCV004839960]	uncertain significance	8	109438436	109438436	Human		name
597702606	CV3572803	single nucleotide variant	NM_177531.6(PKHD1L1):c.4810C>G (p.Pro1604Ala)	not specified [RCV004839961]	uncertain significance	8	109444679	109444679	Human		name
597702617	CV3572804	single nucleotide variant	NM_177531.6(PKHD1L1):c.3316G>T (p.Gly1106Cys)	not specified [RCV004839962]	uncertain significance	8	109433192	109433192	Human		name
597767598	CV3572805	single nucleotide variant	NM_177531.6(PKHD1L1):c.5548G>A (p.Val1850Met)	not specified [RCV004850512]	uncertain significance	8	109445417	109445417	Human		name
597767602	CV3572808	single nucleotide variant	NM_177531.6(PKHD1L1):c.3260T>C (p.Ile1087Thr)	not specified [RCV004850513]	uncertain significance	8	109433136	109433136	Human		name
597702670	CV3572811	single nucleotide variant	NM_177531.6(PKHD1L1):c.9802T>A (p.Tyr3268Asn)	not specified [RCV004839967]	uncertain significance	8	109486743	109486743	Human		name
597702681	CV3572812	single nucleotide variant	NM_177531.6(PKHD1L1):c.7367G>A (p.Arg2456Lys)	not specified [RCV004839968]	uncertain significance	8	109461892	109461892	Human		name
597702694	CV3572814	single nucleotide variant	NM_177531.6(PKHD1L1):c.8723A>G (p.Asn2908Ser)	not specified [RCV004839969]	uncertain significance	8	109475235	109475235	Human		name
597702703	CV3572815	single nucleotide variant	NM_177531.6(PKHD1L1):c.3104C>T (p.Thr1035Ile)	not specified [RCV004839970]	uncertain significance	8	109429443	109429443	Human		name
597702723	CV3572817	single nucleotide variant	NM_177531.6(PKHD1L1):c.4645A>G (p.Arg1549Gly)	not specified [RCV004839972]	likely benign	8	109443756	109443756	Human		name
597702764	CV3572823	single nucleotide variant	NM_177531.6(PKHD1L1):c.6995C>T (p.Thr2332Ile)	not specified [RCV004839976]	uncertain significance	8	109456382	109456382	Human		name
597975871	CV3832812	single nucleotide variant	NM_177531.6(PKHD1L1):c.9339A>C (p.Leu3113Phe)	not provided [RCV005169371]	uncertain significance	8	109481444	109481444	Human		name
598168321	CV3999983	single nucleotide variant	NM_177531.6(PKHD1L1):c.8431G>A (p.Val2811Ile)	not specified [RCV005391871]	uncertain significance	8	109466595	109466595	Human		name
598168347	CV3999989	single nucleotide variant	NM_177531.6(PKHD1L1):c.3133T>C (p.Tyr1045His)	not specified [RCV005391876]	uncertain significance	8	109429941	109429941	Human		name
598168351	CV3999990	single nucleotide variant	NM_177531.6(PKHD1L1):c.8366G>A (p.Arg2789His)	not specified [RCV005391877]	uncertain significance	8	109465198	109465198	Human		name
598168358	CV3999991	single nucleotide variant	NM_177531.6(PKHD1L1):c.5599G>T (p.Asp1867Tyr)	not specified [RCV005391878]	uncertain significance	8	109445468	109445468	Human		name
598168366	CV3999992	single nucleotide variant	NM_177531.6(PKHD1L1):c.9336A>T (p.Arg3112Ser)	not specified [RCV005391879]	uncertain significance	8	109481441	109481441	Human		name
598168370	CV3999993	single nucleotide variant	NM_177531.6(PKHD1L1):c.7760G>A (p.Arg2587Gln)	not specified [RCV005391880]	uncertain significance	8	109464592	109464592	Human		name
598168380	CV3999996	single nucleotide variant	NM_177531.6(PKHD1L1):c.3749G>A (p.Arg1250Gln)	not specified [RCV005391882]	uncertain significance	8	109438445	109438445	Human		name
598168386	CV3999997	single nucleotide variant	NM_177531.6(PKHD1L1):c.6806G>C (p.Arg2269Pro)	not specified [RCV005391883]	uncertain significance	8	109454784	109454784	Human		name
598168397	CV3999999	single nucleotide variant	NM_177531.6(PKHD1L1):c.7408C>T (p.Arg2470Trp)	not specified [RCV005391885]	uncertain significance	8	109464240	109464240	Human		name
598168408	CV4000001	single nucleotide variant	NM_177531.6(PKHD1L1):c.6422A>G (p.His2141Arg)	not specified [RCV005391887]	uncertain significance	8	109452195	109452195	Human		name
598168413	CV4000002	single nucleotide variant	NM_177531.6(PKHD1L1):c.5197G>T (p.Ala1733Ser)	not specified [RCV005391888]	uncertain significance	8	109445066	109445066	Human		name
598168419	CV4000003	single nucleotide variant	NM_177531.6(PKHD1L1):c.3455T>A (p.Val1152Asp)	not specified [RCV005391889]	uncertain significance	8	109435304	109435304	Human		name
598168426	CV4000004	single nucleotide variant	NM_177531.6(PKHD1L1):c.9199A>G (p.Ile3067Val)	not specified [RCV005391890]	uncertain significance	8	109480011	109480011	Human		name
598168439	CV4000006	single nucleotide variant	NM_177531.6(PKHD1L1):c.3484C>T (p.Pro1162Ser)	not specified [RCV005391892]	uncertain significance	8	109435333	109435333	Human		name
598205725	CV4000009	single nucleotide variant	NM_177531.6(PKHD1L1):c.4604G>T (p.Gly1535Val)	not specified [RCV005399510]	uncertain significance	8	109443715	109443715	Human		name
598168452	CV4000010	single nucleotide variant	NM_177531.6(PKHD1L1):c.8636G>A (p.Arg2879Gln)	not specified [RCV005391894]	uncertain significance	8	109475148	109475148	Human		name
598168469	CV4000014	single nucleotide variant	NM_177531.6(PKHD1L1):c.7381G>A (p.Glu2461Lys)	not specified [RCV005391897]	uncertain significance	8	109461906	109461906	Human		name
598168483	CV4000016	single nucleotide variant	NM_177531.6(PKHD1L1):c.9169A>T (p.Ile3057Leu)	not specified [RCV005391899]	uncertain significance	8	109479630	109479630	Human		name
598205737	CV4000017	single nucleotide variant	NM_177531.6(PKHD1L1):c.5447T>C (p.Val1816Ala)	not specified [RCV005399512]	uncertain significance	8	109445316	109445316	Human		name
598168497	CV4000019	single nucleotide variant	NM_177531.6(PKHD1L1):c.6530T>C (p.Val2177Ala)	not specified [RCV005391901]	uncertain significance	8	109452740	109452740	Human		name
598168502	CV4000020	single nucleotide variant	NM_177531.6(PKHD1L1):c.8365C>T (p.Arg2789Cys)	not specified [RCV005391902]	uncertain significance	8	109465197	109465197	Human		name
598168508	CV4000021	single nucleotide variant	NM_177531.6(PKHD1L1):c.9020T>C (p.Leu3007Pro)	not specified [RCV005391903]	uncertain significance	8	109477327	109477327	Human		name
598168520	CV4000023	single nucleotide variant	NM_177531.6(PKHD1L1):c.4796C>T (p.Thr1599Ile)	not specified [RCV005391905]	uncertain significance	8	109444665	109444665	Human		name
598205743	CV4000025	single nucleotide variant	NM_177531.6(PKHD1L1):c.5920G>T (p.Gly1974Trp)	not specified [RCV005399513]	uncertain significance	8	109448286	109448286	Human		name
598168530	CV4000026	single nucleotide variant	NM_177531.6(PKHD1L1):c.9385G>A (p.Val3129Ile)	not specified [RCV005391907]	uncertain significance	8	109481490	109481490	Human		name
598168556	CV4000030	single nucleotide variant	NM_177531.6(PKHD1L1):c.7355T>C (p.Met2452Thr)	not specified [RCV005391911]	uncertain significance	8	109461880	109461880	Human		name
598168562	CV4000031	single nucleotide variant	NM_177531.6(PKHD1L1):c.6914C>T (p.Thr2305Ile)	not specified [RCV005391912]	uncertain significance	8	109456301	109456301	Human		name
598168568	CV4000032	single nucleotide variant	NM_177531.6(PKHD1L1):c.3566G>C (p.Gly1189Ala)	not specified [RCV005391913]	uncertain significance	8	109436398	109436398	Human		name
15158713	CV700340	single nucleotide variant	NM_177531.6(PKHD1L1):c.9545T>C (p.Val3182Ala)	not provided [RCV000947125]	benign	8	109483074	109483074	Human		name
15115691	CV711233	single nucleotide variant	NM_177531.6(PKHD1L1):c.7715G>A (p.Arg2572Gln)	not provided [RCV000961894]	benign	8	109464547	109464547	Human		name
8632782	CV87997	single nucleotide variant	NM_177531.4(PKHD1L1):c.3280C>T (p.Pro1094Ser)	Malignant melanoma [RCV000068089]	not provided	8	109433156	109433156	Human		name
8632783	CV87998	single nucleotide variant	NM_177531.4(PKHD1L1):c.4022C>T (p.Ser1341Phe)	Malignant melanoma [RCV000068090]	not provided	8	109440775	109440775	Human		name
8632784	CV87999	single nucleotide variant	NM_177531.6(PKHD1L1):c.4519C>T (p.Pro1507Ser)	not specified [RCV004107727]	uncertain significance\|not provided	8	109443071	109443071	Human		name
8632785	CV88000	single nucleotide variant	NM_177531.4(PKHD1L1):c.6715A>T (p.Ile2239Phe)	Malignant melanoma [RCV000068092]	not provided	8	109454217	109454217	Human		name
8632786	CV88001	single nucleotide variant	NM_177531.4(PKHD1L1):c.7162C>T (p.Leu2388Phe)	Malignant melanoma [RCV000068093]	not provided	8	109459752	109459752	Human		name
8632787	CV88002	single nucleotide variant	NM_177531.4(PKHD1L1):c.8242C>T (p.Arg2748Cys)	Malignant melanoma [RCV000068094]	not provided	8	109465074	109465074	Human		name
8632788	CV88003	single nucleotide variant	NM_177531.4(PKHD1L1):c.8377G>A (p.Glu2793Lys)	Malignant melanoma [RCV000068095]	not provided	8	109465209	109465209	Human		name
8632789	CV88004	single nucleotide variant	NM_177531.4(PKHD1L1):c.8458C>T (p.Pro2820Ser)	Malignant melanoma [RCV000068096]	not provided	8	109466622	109466622	Human		name
156314232	CV2196613	single nucleotide variant	NM_177531.6(PKHD1L1):c.11290A>G (p.Met3764Val)	not specified [RCV004073885]	uncertain significance	8	109508159	109508159	Human		name
156328669	CV2213659	single nucleotide variant	NM_177531.6(PKHD1L1):c.10969A>G (p.Ile3657Val)	not specified [RCV004089737]	uncertain significance	8	109504467	109504467	Human		name
156384504	CV2231101	single nucleotide variant	NM_177531.6(PKHD1L1):c.12140T>A (p.Ile4047Asn)	not specified [RCV004094322]	uncertain significance	8	109522294	109522294	Human		name
156028978	CV2238275	single nucleotide variant	NM_177531.6(PKHD1L1):c.11429C>T (p.Thr3810Ile)	not specified [RCV004113355]	uncertain significance	8	109510810	109510810	Human		name
155921695	CV2240563	single nucleotide variant	NM_177531.6(PKHD1L1):c.10150G>C (p.Gly3384Arg)	not specified [RCV004119217]	uncertain significance	8	109491908	109491908	Human		name
155995593	CV2259117	single nucleotide variant	NM_177531.6(PKHD1L1):c.10628G>A (p.Gly3543Glu)	not specified [RCV004120370]	likely benign	8	109498490	109498490	Human		name
155989903	CV2259745	single nucleotide variant	NM_177531.6(PKHD1L1):c.10981A>G (p.Arg3661Gly)	not specified [RCV004116755]	uncertain significance	8	109504479	109504479	Human		name
156049337	CV2271790	single nucleotide variant	NM_177531.6(PKHD1L1):c.10844G>C (p.Gly3615Ala)	not specified [RCV004130628]	uncertain significance	8	109504342	109504342	Human		name
156123247	CV2276163	single nucleotide variant	NM_177531.6(PKHD1L1):c.10013G>A (p.Arg3338Gln)	not specified [RCV004141824]	uncertain significance	8	109491000	109491000	Human		name
155919221	CV2279379	single nucleotide variant	NM_177531.6(PKHD1L1):c.11926A>T (p.Ser3976Cys)	not specified [RCV004141933]	uncertain significance	8	109518403	109518403	Human		name
155905121	CV2298928	single nucleotide variant	NM_177531.6(PKHD1L1):c.10927G>A (p.Val3643Met)	not specified [RCV004156459]	uncertain significance	8	109504425	109504425	Human		name
155910747	CV2303666	single nucleotide variant	NM_177531.6(PKHD1L1):c.11504C>T (p.Thr3835Ile)	not specified [RCV004161740]	uncertain significance	8	109510885	109510885	Human		name
156264517	CV2312095	single nucleotide variant	NM_177531.6(PKHD1L1):c.11101C>T (p.Pro3701Ser)	not specified [RCV004165015]	uncertain significance	8	109507769	109507769	Human		name
156050143	CV2319358	single nucleotide variant	NM_177531.6(PKHD1L1):c.11482T>G (p.Tyr3828Asp)	not provided [RCV004695554]\|not specified [RCV004180180]	uncertain significance	8	109510863	109510863	Human		name
156159393	CV2322736	single nucleotide variant	NM_177531.6(PKHD1L1):c.10645G>A (p.Val3549Ile)	not specified [RCV004182849]	uncertain significance	8	109498507	109498507	Human		name
156161756	CV2323479	single nucleotide variant	NM_177531.6(PKHD1L1):c.12350G>T (p.Gly4117Val)	not specified [RCV004165688]	uncertain significance	8	109523252	109523252	Human		name
156279949	CV2325389	single nucleotide variant	NM_177531.6(PKHD1L1):c.12561G>C (p.Glu4187Asp)	not specified [RCV004177757]	uncertain significance	8	109526860	109526860	Human		name
156036034	CV2335047	single nucleotide variant	NM_177531.6(PKHD1L1):c.11965A>G (p.Met3989Val)	not specified [RCV004184586]	uncertain significance	8	109518442	109518442	Human		name
155970815	CV2335622	single nucleotide variant	NM_177531.6(PKHD1L1):c.10655A>G (p.Asn3552Ser)	not specified [RCV004193826]	uncertain significance	8	109498517	109498517	Human		name
156083622	CV2343067	single nucleotide variant	NM_177531.6(PKHD1L1):c.11254T>G (p.Tyr3752Asp)	not specified [RCV004192664]	uncertain significance	8	109508123	109508123	Human		name
155929223	CV2363467	single nucleotide variant	NM_177531.6(PKHD1L1):c.12200T>G (p.Val4067Gly)	not specified [RCV004216041]	uncertain significance	8	109522760	109522760	Human		name
155931832	CV2371034	single nucleotide variant	NM_177531.6(PKHD1L1):c.11557G>A (p.Val3853Ile)	not specified [RCV004220797]	uncertain significance	8	109515173	109515173	Human		name
156387807	CV2383377	single nucleotide variant	NM_177531.6(PKHD1L1):c.11458A>G (p.Ser3820Gly)	not specified [RCV004222406]	uncertain significance	8	109510839	109510839	Human		name
155970432	CV2392224	single nucleotide variant	NM_177531.6(PKHD1L1):c.10304G>A (p.Arg3435His)	not specified [RCV004243835]	uncertain significance	8	109493728	109493728	Human		name
156167408	CV2399029	single nucleotide variant	NM_177531.6(PKHD1L1):c.10791G>T (p.Met3597Ile)	not specified [RCV004245331]	uncertain significance	8	109498734	109498734	Human		name
329366462	CV2445754	single nucleotide variant	NM_177531.6(PKHD1L1):c.10252A>G (p.Asn3418Asp)	not specified [RCV004259817]	uncertain significance	8	109493676	109493676	Human		name
329402671	CV2451211	single nucleotide variant	NM_177531.6(PKHD1L1):c.12104G>A (p.Ser4035Asn)	not specified [RCV004270127]	uncertain significance	8	109522258	109522258	Human		name
329372587	CV2451557	single nucleotide variant	NM_177531.6(PKHD1L1):c.10207A>G (p.Ser3403Gly)	not specified [RCV004274495]	uncertain significance	8	109491965	109491965	Human		name
329402224	CV2454066	single nucleotide variant	NM_177531.6(PKHD1L1):c.11369G>C (p.Gly3790Ala)	not specified [RCV004265576]	uncertain significance	8	109508238	109508238	Human		name
329356996	CV2460644	single nucleotide variant	NM_177531.6(PKHD1L1):c.10676T>C (p.Leu3559Pro)	not specified [RCV004270695]	uncertain significance	8	109498538	109498538	Human		name
329392138	CV2470415	single nucleotide variant	NM_177531.6(PKHD1L1):c.10376G>T (p.Gly3459Val)	not specified [RCV004273447]	uncertain significance	8	109496967	109496967	Human		name
401766136	CV2679581	single nucleotide variant	NM_177531.6(PKHD1L1):c.12713T>C (p.Ile4238Thr)	not specified [RCV004282065]	uncertain significance	8	109527012	109527012	Human		name
401763875	CV2700239	single nucleotide variant	NM_177531.6(PKHD1L1):c.10889C>T (p.Thr3630Ile)	not specified [RCV004310908]	uncertain significance	8	109504387	109504387	Human		name
401771867	CV2722974	single nucleotide variant	NM_177531.6(PKHD1L1):c.11065G>A (p.Asp3689Asn)	not specified [RCV004327151]	uncertain significance	8	109507733	109507733	Human		name
401767346	CV2727057	single nucleotide variant	NM_177531.6(PKHD1L1):c.11815T>C (p.Phe3939Leu)	not specified [RCV004325432]	uncertain significance	8	109518292	109518292	Human		name
401769348	CV2734943	single nucleotide variant	NM_177531.6(PKHD1L1):c.10433G>T (p.Gly3478Val)	not specified [RCV004333650]	uncertain significance	8	109497024	109497024	Human		name
401875544	CV2766089	single nucleotide variant	NM_177531.6(PKHD1L1):c.10141C>G (p.Arg3381Gly)	not specified [RCV004340546]	uncertain significance	8	109491899	109491899	Human		name
401879053	CV2780948	single nucleotide variant	NM_177531.6(PKHD1L1):c.12403G>C (p.Val4135Leu)	not specified [RCV004354483]	uncertain significance	8	109523305	109523305	Human		name
401924114	CV2821239	single nucleotide variant	NM_177531.6(PKHD1L1):c.12701C>T (p.Ser4234Leu)	not provided [RCV003435595]	uncertain significance	8	109527000	109527000	Human		name
405650986	CV3365550	single nucleotide variant	NM_177531.6(PKHD1L1):c.10303C>T (p.Arg3435Cys)	not specified [RCV004509061]	uncertain significance	8	109493727	109493727	Human		name
405650989	CV3365551	single nucleotide variant	NM_177531.6(PKHD1L1):c.10487G>A (p.Ser3496Asn)	not specified [RCV004509062]	uncertain significance	8	109497160	109497160	Human		name
405650990	CV3365552	single nucleotide variant	NM_177531.6(PKHD1L1):c.10588G>A (p.Val3530Ile)	not specified [RCV004509063]	uncertain significance	8	109497261	109497261	Human		name
405650992	CV3365553	single nucleotide variant	NM_177531.6(PKHD1L1):c.10615G>A (p.Gly3539Arg)	not specified [RCV004509064]	uncertain significance	8	109498477	109498477	Human		name
405650996	CV3365555	single nucleotide variant	NM_177531.6(PKHD1L1):c.11374G>A (p.Gly3792Ser)	not specified [RCV004509066]	uncertain significance	8	109508243	109508243	Human		name
405650997	CV3365556	single nucleotide variant	NM_177531.6(PKHD1L1):c.11669T>C (p.Leu3890Pro)	not specified [RCV004509067]	uncertain significance	8	109515285	109515285	Human		name
405650999	CV3365557	single nucleotide variant	NM_177531.6(PKHD1L1):c.11989A>T (p.Ile3997Phe)	not specified [RCV004509068]	uncertain significance	8	109518466	109518466	Human		name
405651000	CV3365558	single nucleotide variant	NM_177531.6(PKHD1L1):c.12220G>A (p.Val4074Ile)	not specified [RCV004509069]	uncertain significance	8	109522780	109522780	Human		name
405651002	CV3365559	single nucleotide variant	NM_177531.6(PKHD1L1):c.12338G>C (p.Cys4113Ser)	not specified [RCV004509070]	uncertain significance	8	109523240	109523240	Human		name
405651003	CV3365560	single nucleotide variant	NM_177531.6(PKHD1L1):c.12340G>T (p.Val4114Leu)	not specified [RCV004509071]	uncertain significance	8	109523242	109523242	Human		name
405651006	CV3365561	single nucleotide variant	NM_177531.6(PKHD1L1):c.12434C>T (p.Pro4145Leu)	not specified [RCV004509072]	uncertain significance	8	109523336	109523336	Human		name
405673909	CV3380120	single nucleotide variant	NM_177531.6(PKHD1L1):c.10141C>T (p.Arg3381Ter)	Autosomal recessive nonsyndromic hearing loss 124 [RCV004515821]	pathogenic	8	109491899	109491899	Human	1	name
407531058	CV3460490	single nucleotide variant	NM_177531.6(PKHD1L1):c.12416G>A (p.Ser4139Asn)	not specified [RCV004657402]	uncertain significance	8	109523318	109523318	Human		name
407531064	CV3460496	single nucleotide variant	NM_177531.6(PKHD1L1):c.10761G>A (p.Met3587Ile)	not specified [RCV004657405]	uncertain significance	8	109498704	109498704	Human		name
407512534	CV3460498	single nucleotide variant	NM_177531.6(PKHD1L1):c.10732T>G (p.Trp3578Gly)	not specified [RCV004648461]	uncertain significance	8	109498675	109498675	Human		name
407531070	CV3460501	single nucleotide variant	NM_177531.6(PKHD1L1):c.11270A>G (p.Gln3757Arg)	not specified [RCV004657408]	uncertain significance	8	109508139	109508139	Human		name
407512541	CV3460503	single nucleotide variant	NM_177531.6(PKHD1L1):c.10675C>T (p.Leu3559Phe)	not specified [RCV004648464]	uncertain significance	8	109498537	109498537	Human		name
407512556	CV3460511	single nucleotide variant	NM_177531.6(PKHD1L1):c.12308C>T (p.Ser4103Leu)	not specified [RCV004648469]	uncertain significance	8	109522868	109522868	Human		name
407512572	CV3460518	single nucleotide variant	NM_177531.6(PKHD1L1):c.12542C>G (p.Thr4181Ser)	not specified [RCV004648475]	uncertain significance	8	109526841	109526841	Human		name
407512583	CV3460526	single nucleotide variant	NM_177531.6(PKHD1L1):c.10765C>A (p.Pro3589Thr)	not specified [RCV004648479]	uncertain significance	8	109498708	109498708	Human		name
407531094	CV3460530	single nucleotide variant	NM_177531.6(PKHD1L1):c.11504C>A (p.Thr3835Asn)	not specified [RCV004657420]	uncertain significance	8	109510885	109510885	Human		name
407531096	CV3460531	single nucleotide variant	NM_177531.6(PKHD1L1):c.12299A>G (p.Gln4100Arg)	not specified [RCV004657421]	uncertain significance	8	109522859	109522859	Human		name
408367598	CV3509741	single nucleotide variant	NM_177531.6(PKHD1L1):c.10171G>A (p.Val3391Ile)	PKHD1L1-related disorder [RCV004759024]	likely benign	8	109491929	109491929	Human		name , trait , alternate_id
597702177	CV3572754	single nucleotide variant	NM_177531.6(PKHD1L1):c.11783T>C (p.Ile3928Thr)	not specified [RCV004839919]	likely benign	8	109518260	109518260	Human		name
597702188	CV3572755	single nucleotide variant	NM_177531.6(PKHD1L1):c.11773A>G (p.Lys3925Glu)	not specified [RCV004839920]	uncertain significance	8	109518250	109518250	Human		name
597702220	CV3572758	single nucleotide variant	NM_177531.6(PKHD1L1):c.12071C>T (p.Ser4024Phe)	not specified [RCV004839923]	uncertain significance	8	109522225	109522225	Human		name
597702398	CV3572780	single nucleotide variant	NM_177531.6(PKHD1L1):c.10526T>C (p.Met3509Thr)	not specified [RCV004839940]	uncertain significance	8	109497199	109497199	Human		name
597702441	CV3572787	single nucleotide variant	NM_177531.6(PKHD1L1):c.11686A>C (p.Lys3896Gln)	not specified [RCV004839945]	uncertain significance	8	109515302	109515302	Human		name
597702517	CV3572794	single nucleotide variant	NM_177531.6(PKHD1L1):c.11153A>G (p.Tyr3718Cys)	not specified [RCV004839952]	uncertain significance	8	109507821	109507821	Human		name
597702561	CV3572799	single nucleotide variant	NM_177531.6(PKHD1L1):c.11117A>G (p.Glu3706Gly)	not specified [RCV004839957]	uncertain significance	8	109507785	109507785	Human		name
597702713	CV3572816	single nucleotide variant	NM_177531.6(PKHD1L1):c.10115G>A (p.Gly3372Asp)	not specified [RCV004839971]	uncertain significance	8	109491873	109491873	Human		name
597767610	CV3572819	single nucleotide variant	NM_177531.6(PKHD1L1):c.11582C>T (p.Thr3861Ile)	not specified [RCV004850515]	uncertain significance	8	109515198	109515198	Human		name
597767614	CV3572821	single nucleotide variant	NM_177531.6(PKHD1L1):c.10529C>A (p.Ala3510Asp)	not specified [RCV004850516]	uncertain significance	8	109497202	109497202	Human		name
597702754	CV3572822	single nucleotide variant	NM_177531.6(PKHD1L1):c.11978T>G (p.Ile3993Ser)	not specified [RCV004839975]	uncertain significance	8	109518455	109518455	Human		name
597702775	CV3572825	single nucleotide variant	NM_177531.6(PKHD1L1):c.10304G>T (p.Arg3435Leu)	not specified [RCV004839977]	uncertain significance	8	109493728	109493728	Human		name
598168331	CV3999985	single nucleotide variant	NM_177531.6(PKHD1L1):c.10148G>A (p.Arg3383Gln)	not specified [RCV005391873]	uncertain significance	8	109491906	109491906	Human		name
598168342	CV3999987	single nucleotide variant	NM_177531.6(PKHD1L1):c.12151C>A (p.Leu4051Ile)	not specified [RCV005391875]	likely benign	8	109522305	109522305	Human		name
598168457	CV4000011	single nucleotide variant	NM_177531.6(PKHD1L1):c.10049T>C (p.Ile3350Thr)	not specified [RCV005391895]	uncertain significance	8	109491036	109491036	Human		name
598205732	CV4000012	single nucleotide variant	NM_177531.6(PKHD1L1):c.12207G>T (p.Arg4069Ser)	not specified [RCV005399511]	uncertain significance	8	109522767	109522767	Human		name
598168463	CV4000013	single nucleotide variant	NM_177531.6(PKHD1L1):c.10666A>G (p.Asn3556Asp)	not specified [RCV005391896]	uncertain significance	8	109498528	109498528	Human		name
598168514	CV4000022	single nucleotide variant	NM_177531.6(PKHD1L1):c.10181G>A (p.Gly3394Glu)	not specified [RCV005391904]	uncertain significance	8	109491939	109491939	Human		name
8632791	CV88006	single nucleotide variant	NM_177531.4(PKHD1L1):c.12475C>T (p.Leu4159Phe)	Malignant melanoma [RCV000068098]	not provided	8	109523377	109523377	Human		name
405673918	CV3380123	deletion	NM_177531.6(PKHD1L1):c.8452_8468del (p.Leu2818fs)	Autosomal recessive nonsyndromic hearing loss 124 [RCV004515824]	pathogenic	8	109466609	109466625	Human	1	name

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