Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001128178.3(NPHP1):c.1716+1G>T	SNV Germline	Chr2:110129185	Pathogenic/Likely pathogenic	Nephronophthisis 1 Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Multiple Submitters No Conflicts	CA348086755	rs_1233478832	4 SubmittersRCV000003682 RCV001851623 RCV003466796 RCV005016232
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)	SNV Germline	Chr2:110201484	Pathogenic	Nephronophthisis 1 Nephronophthisis	No Assertion Criteria Provided	CA116308	rs_121907898	2 SubmittersRCV000003684 RCV000234828
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	SNV Germline	Chr2:110163048	Pathogenic	Nephronophthisis 1 Condition: not provided Nephronophthisis NPHP1-related disorder Joubert syndrome with renal defect Retinal dystrophy Inborn genetic diseases Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Ovarian serous cystadenocarcinoma Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA116310	rs_121907899	16 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004814818 RCV004018547 RCV005025001 RCV005887256 RCV005887255
NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=)	SNV Germline	Chr2:110131734	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA220568	rs_398123286	2 SubmittersRCV000078489 RCV005089537
NM_001128178.3(NPHP1):c.771+2C>T	SNV Germline	Chr2:110164686	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Retinal dystrophy Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV004815000 RCV002514380 RCV004734635
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:110178520	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis 1 Condition: not provided NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	9 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425 RCV004734720
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	SNV Germline	Chr2:110161690	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000305677 RCV000353470 RCV000390136 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239100	rs_794726975	3 SubmittersRCV000173663 RCV001852113 RCV002500458
NM_001128178.3(NPHP1):c.1270-4C>T	SNV Germline	Chr2:110146839	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Condition: not provided	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128804 RCV001128803 RCV001128802 RCV001699052
NM_001128178.3(NPHP1):c.330-4G>A	SNV Germline	Chr2:110170002	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA245909	rs_774162169	4 SubmittersRCV000178744 RCV003586162 RCV004539674 RCV005025286
NM_001128178.3(NPHP1):c.771+134G>A	SNV Germline	Chr2:110164554	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis not specified Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA247505	rs_140151060	6 SubmittersRCV000180122 RCV001064976 RCV002265664 RCV002515290 RCV004539692
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)	SNV Germline	Chr2:110123912	Conflicting classifications of pathogenicity	Nephronophthisis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA338494	rs_186950965	4 SubmittersRCV000199257 RCV000248910 RCV002517296
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)	SNV Germline	Chr2:110123964	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 not specified Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 RCV002282034 RCV002478707 RCV002517295
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)	SNV Germline	Chr2:110123875	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA349342	rs_144850331	4 SubmittersRCV000406042 RCV001089361 RCV004541288
NM_001128178.3(NPHP1):c.771+58C>A	SNV Germline	Chr2:110164630	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827271	rs_367600757	3 SubmittersRCV000253367 RCV000727236 RCV001461187
NM_001128178.3(NPHP1):c.329+1G>A	SNV Germline	Chr2:110178422	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA1827444	rs_376974221	5 SubmittersRCV000351846 RCV001859657 RCV002494861 RCV003469241 RCV003492029
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	SNV Germline	Chr2:110161604	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Condition: not provided Joubert syndrome with renal defect Nephronophthisis Nephronophthisis 1 NPHP1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1827170	rs_140469160	7 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382 RCV006362208
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	SNV Germline	Chr2:110163104	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis NPHP1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1827217	rs_114250691	6 SubmittersRCV000363080 RCV000765499 RCV001084490 RCV004535410 RCV004816513
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)	SNV Germline	Chr2:110124038	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Inborn genetic diseases NPHP1-related disorder Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Conflicting Classifications	CA1826867	rs_201460699	6 SubmittersRCV000303839 RCV001067121 RCV004021253 RCV004734940 RCV005415563
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	SNV Germline	Chr2:110143602	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis not specified Nephronophthisis 1 Condition: not provided NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827002	rs_149887461	8 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605
NM_001128178.3(NPHP1):c.771+89A>G	SNV Germline	Chr2:110164599	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Nephronophthisis Senior-Loken syndrome 1 Condition: not provided Nephronophthisis 1 Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827267	rs_139787582	9 SubmittersRCV000290000 RCV000325159 RCV000381986 RCV000732923 RCV001094596 RCV002487460 RCV004649130 RCV004735468
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)	SNV Germline	Chr2:110169872	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827390	rs_143163969	2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)	SNV Germline	Chr2:110163106	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Nephronophthisis Joubert syndrome with renal defect Condition: not provided Nephronophthisis 1 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1827219	rs_141763330	5 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593 RCV004816571
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)	SNV Germline	Chr2:110165111	Conflicting classifications of pathogenicity	Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications	CA10611873	rs_886054755	2 SubmittersRCV000300890 RCV000335771 RCV000399200 RCV005090514
NM_001128178.3(NPHP1):c.1930G>C (p.Gly644Arg)	SNV Germline	Chr2:110123895	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA1826845	rs_760619900	1 SubmittersRCV000487521
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser)	SNV Germline	Chr2:110204926	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827542	rs_373915635	3 SubmittersRCV000493608 RCV001408140 RCV004535553
NM_001128178.3(NPHP1):c.772-5T>C	SNV Germline	Chr2:110163140	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827225	rs_201478764	3 SubmittersRCV000592386 RCV001134448 RCV001134446 RCV001134447 RCV003748247
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)	SNV Germline	Chr2:110144503	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA1827026	rs_147945403	5 SubmittersRCV000594034 RCV000638098 RCV004543376 RCV005019023
NM_001128178.3(NPHP1):c.728+9G>A	SNV Germline	Chr2:110165043	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA535156358	rs_1280756117	3 SubmittersRCV000595972 RCV002065178 RCV004543386
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=)	SNV Germline	Chr2:110169854	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA427919332	rs_1253817401	2 SubmittersRCV000595580 RCV002532671
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)	SNV Germline	Chr2:110123968	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA348086183	rs_1473345628	3 SubmittersRCV000627303 RCV003117437 RCV005019040
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	SNV Germline	Chr2:110161686	Pathogenic	Nephronophthisis Condition: not provided Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA1827180	rs_765263671	4 SubmittersRCV000702943 RCV001200637 RCV002507229 RCV003472242
NM_001128178.3(NPHP1):c.771+33G>A	SNV Germline	Chr2:110164655	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827277	rs_751388694	3 SubmittersRCV000730221 RCV001405423
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)	SNV Germline	Chr2:110169913	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA348093020	rs_1349732291	3 SubmittersRCV000730826 RCV002493328 RCV003748273
NM_001128178.3(NPHP1):c.336G>A (p.Gly112=)	SNV Germline	Chr2:110169992	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827411	rs_144217506	2 SubmittersRCV000730935 RCV001868961
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)	SNV Germline	Chr2:110201462	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827503	rs_763004817	3 SubmittersRCV000731299 RCV001078658 RCV004535844
NM_001128178.3(NPHP1):c.555A>G (p.Lys185=)	SNV Germline	Chr2:110168521	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827359	rs_749606788	2 SubmittersRCV000734259 RCV006464130
NM_001128178.3(NPHP1):c.1430-8C>G	SNV Germline	Chr2:110143649	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827010	rs_750113370	2 SubmittersRCV000734545 RCV001052818
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=)	SNV Germline	Chr2:110131790	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1826975	rs_567306113	3 SubmittersRCV000734854 RCV001435761 RCV004817964
NM_001128178.3(NPHP1):c.771+3G>A	SNV Germline	Chr2:110164685	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications	CA427918973	rs_1365022834	3 SubmittersRCV000735157 RCV002507313 RCV002535419
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)	SNV Germline	Chr2:110123939	Pathogenic/Likely pathogenic	Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348086119	rs_1311042980	3 SubmittersRCV001059818 RCV002497439 RCV003467802
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly)	SNV Germline	Chr2:110148020	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA1827101	rs_375907280	3 SubmittersRCV001042883 RCV003283887 RCV005029600
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)	SNV Germline	Chr2:110165137	Pathogenic/Likely pathogenic	Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348092391	rs_753517219	3 SubmittersRCV001039504 RCV002505566 RCV003461446
NM_001128178.3(NPHP1):c.*194T>C	SNV Germline	Chr2:110123597	Conflicting classifications of pathogenicity	Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA53520166	rs_189472793	1 SubmittersRCV001135695 RCV001135696 RCV001135697
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)	SNV Germline	Chr2:110178512	Conflicting classifications of pathogenicity	Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827461	rs_767719020	3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078
NM_001128178.3(NPHP1):c.1716+15T>C	SNV Germline	Chr2:110129171	Conflicting classifications of pathogenicity	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications	CA1826924	rs_368590150	2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698
NM_001128178.3(NPHP1):c.771+178C>T	SNV Germline	Chr2:110164510	Conflicting classifications of pathogenicity	Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Conflicting Classifications	CA1827251	rs_767903893	2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343
NM_001128178.3(NPHP1):c.771+169G>T	SNV Germline	Chr2:110164519	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect Joubert syndrome and related disorders Joubert syndrome with renal defect NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827253	rs_150520157	5 SubmittersRCV001203841 RCV001535975 RCV003226442 RCV003462683 RCV004734043
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter)	SNV Germline	Chr2:110125673	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348086728	rs_1679301117	1 SubmittersRCV001234710
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter)	SNV Germline	Chr2:110144532	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA1827034	rs_764740388	1 SubmittersRCV001239557
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	SNV Germline	Chr2:110131733	Pathogenic	Joubert syndrome with renal defect Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 NPHP1-related disorder Nephronophthisis 1	Criteria Provided Multiple Submitters No Conflicts	CA1826966	rs_547352656	6 SubmittersRCV001332330 RCV001382647 RCV001536104 RCV004734126 RCV004594273
NM_001128178.3(NPHP1):c.1270-1G>A	SNV Germline	Chr2:110146836	Pathogenic	Nephronophthisis Condition: not provided Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA1827070	rs_376492641	6 SubmittersRCV001390765 RCV001820089 RCV003469780
NM_001128178.3(NPHP1):c.1119G>A (p.Trp373Ter)	SNV Germline	Chr2:110150221	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA1827123	rs_753607290	1 SubmittersRCV001782536
NM_001128178.3(NPHP1):c.143+1G>A	SNV Germline	Chr2:110201420	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA53543852	rs_745806504	1 SubmittersRCV001817736
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)	SNV Germline	Chr2:110201460	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1827502	rs_368025611	6 SubmittersRCV001913820 RCV005023432 RCV003134231 RCV002555758
NM_001128178.3(NPHP1):c.729-2A>G	SNV Germline	Chr2:110164732	Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA1827284	rs_773781058	3 SubmittersRCV002011188 RCV002492327 RCV003471256
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter)	SNV Germline	Chr2:110163063	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348090599	rs_1328879943	1 SubmittersRCV002035279
NM_001128178.3(NPHP1):c.143+1G>C	SNV Germline	Chr2:110201420	Likely pathogenic	Nephronophthisis Senior-Loken syndrome 1 Joubert syndrome with renal defect Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA53543840	rs_745806504	3 SubmittersRCV001970457 RCV002497908 RCV003471207
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)	SNV Germline	Chr2:110168477	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1 Inborn genetic diseases NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827351	rs_373951297	4 SubmittersRCV002049316 RCV002489940 RCV002545704 RCV004734292
NM_001128178.3(NPHP1):c.1084-1G>T	SNV Germline	Chr2:110150257	Pathogenic	Nephronophthisis NPHP1-related disorder Nephronophthisis 1	Criteria Provided Multiple Submitters No Conflicts	CA348088198	rs_1458494785	4 SubmittersRCV001960023 RCV004538648 RCV004577005
NM_001128178.3(NPHP1):c.771+137G>A	SNV Germline	Chr2:110164551	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1827257	rs_779083426	2 SubmittersRCV001942594 RCV003355582
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)	SNV Germline	Chr2:110131704	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA427921736	rs_1266229950	2 SubmittersRCV001984761 RCV002484661
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter)	SNV Germline	Chr2:110161692	Likely pathogenic	Nephronophthisis 1	Criteria Provided Single Submitter	CA348090381	rs_2104548702	1 SubmittersRCV002226876
NM_001128178.3(NPHP1):c.144-1G>A	SNV Germline	Chr2:110179685	Pathogenic/Likely pathogenic	Joubert syndrome and related disorders Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1	Criteria Provided Multiple Submitters No Conflicts	CA1827485	rs_752708835	4 SubmittersRCV002282819 RCV003586324 RCV003471306 RCV006703154
NM_001128178.3(NPHP1):c.729-1G>C	SNV Germline	Chr2:110164731	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348092051	rs_2467370400	1 SubmittersRCV003068804
NM_001128178.3(NPHP1):c.771+58C>T	SNV Germline	Chr2:110164630	Pathogenic/Likely pathogenic	Nephronophthisis Joubert syndrome with renal defect Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA1827270	rs_367600757	3 SubmittersRCV003088842 RCV003465966 RCV005412478
NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu)	SNV Germline	Chr2:110164702	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1827282	rs_577070620	2 SubmittersRCV002611834 RCV004070523
NM_001128178.3(NPHP1):c.1717-1G>T	SNV Germline	Chr2:110125682	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA53521659	rs_370205671	1 SubmittersRCV002576334
NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile)	SNV Germline	Chr2:110143549	Conflicting classifications of pathogenicity	Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1826997	rs_573192954	2 SubmittersRCV002592863 RCV005382427
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)	SNV Germline	Chr2:110204953	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348094337	rs_1486706164	1 SubmittersRCV002801310
NM_001128178.3(NPHP1):c.522+1G>C	SNV Germline	Chr2:110169805	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348092774	rs_2467403268	1 SubmittersRCV002863746
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)	SNV Germline	Chr2:110204905	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348094247	rs_2467621338	1 SubmittersRCV002890327
NM_001128178.3(NPHP1):c.1158+1G>A	SNV Germline	Chr2:110150181	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348088032	rs_2467272833	1 SubmittersRCV003007858
NM_001128178.3(NPHP1):c.523-2A>C	SNV Germline	Chr2:110168555	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348092767	rs_2467395269	1 SubmittersRCV003049397
NM_001128178.3(NPHP1):c.625-1G>A	SNV Unknown	Chr2:110165156	Pathogenic	Nephronophthisis 1	Criteria Provided Single Submitter	CA348092483	rs_2467374878	1 SubmittersRCV003153060
NM_001128178.3(NPHP1):c.1083+1G>A	SNV Germline	Chr2:110160126	Likely pathogenic	Joubert syndrome and related disorders Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348089319	rs_564605452	2 SubmittersRCV003155856 RCV003466028
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)	SNV Unknown	Chr2:110146800	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348087698	rs_1193790186	1 SubmittersRCV003471527
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)	SNV Unknown	Chr2:110201425	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348094061	rs_1454994826	1 SubmittersRCV003471528
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)	SNV Unknown	Chr2:110179677	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348093727	rs_1327440899	1 SubmittersRCV003471530
NM_001128178.3(NPHP1):c.1643-2A>G	SNV Unknown	Chr2:110129261	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348086927	rs_1559043866	1 SubmittersRCV003471531
NM_001128178.3(NPHP1):c.625-2A>G	SNV Unknown	Chr2:110165157	Pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348092489	rs_2467374890	1 SubmittersRCV003471532
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)	SNV Unknown	Chr2:110161675	Pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA1827178	rs_369977541	1 SubmittersRCV003471533
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)	SNV Unknown	Chr2:110165056	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348092070	rs_1482624366	1 SubmittersRCV003471534
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)	SNV Unknown	Chr2:110146834	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348087770	rs_2467252177	1 SubmittersRCV003471535
NM_001128178.3(NPHP1):c.1270-2A>G	SNV Germline	Chr2:110146837	Pathogenic/Likely pathogenic	Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA348087778	rs_2467252243	2 SubmittersRCV003471536 RCV003748496
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)	SNV Unknown	Chr2:110161622	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348090062	rs_2467344481	1 SubmittersRCV003471541
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)	SNV Germline	Chr2:110201437	Pathogenic/Likely pathogenic	Joubert syndrome with renal defect Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Multiple Submitters No Conflicts	CA348094090	rs_2467599617	3 SubmittersRCV003463185 RCV003586427 RCV005021980
NM_001128178.3(NPHP1):c.1084-2A>C	SNV Unknown	Chr2:110150258	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348088203	rs_2467273765	1 SubmittersRCV003471543
NM_001128178.3(NPHP1):c.1643-1G>C	SNV Unknown	Chr2:110129260	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA1826936	rs_774810198	1 SubmittersRCV003463186
NM_001128178.3(NPHP1):c.771+124C>T	SNV Germline	Chr2:110164564	Pathogenic/Likely pathogenic	Joubert syndrome with renal defect Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA348091677	rs_1210552017	2 SubmittersRCV003471545 RCV003748497
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)	SNV Unknown	Chr2:110125674	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348086733	rs_2467132150	1 SubmittersRCV003471546
NM_001128178.3(NPHP1):c.1352+2T>G	SNV Unknown	Chr2:110146751	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348087591	rs_2467251149	1 SubmittersRCV003471547
NM_001128178.3(NPHP1):c.69+1G>T	SNV Unknown	Chr2:110204899	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348094232	rs_1336978749	1 SubmittersRCV003471548
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)	SNV Unknown	Chr2:110163065	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter	CA348090606	rs_2467354598	1 SubmittersRCV003471549
NM_001128178.3(NPHP1):c.1352+2T>C	SNV Germline	Chr2:110146751	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348087592	rs_2467251149	1 SubmittersRCV003586518
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)	SNV Germline	Chr2:110179656	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348093679	rs_558873032	1 SubmittersRCV003586763
NM_001128178.3(NPHP1):c.860-2A>G	SNV Germline	Chr2:110161699	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348090413	rs_2467345309	1 SubmittersRCV003586822
NM_001128178.3(NPHP1):c.522+1G>A	SNV Germline	Chr2:110169805	Likely pathogenic	Nephronophthisis NPHP1-related disorder Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA348092775	rs_2467403268	3 SubmittersRCV003587865 RCV004579619 RCV005014801
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)	SNV Germline	Chr2:110160215	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348089722	rs_2467333810	1 SubmittersRCV003749378
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)	SNV Germline	Chr2:110160212	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348089710	rs_2467333753	1 SubmittersRCV003749552
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)	SNV Germline	Chr2:110204950	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348094331	rs_759193940	1 SubmittersRCV003749948
NM_001128178.3(NPHP1):c.1269+15A>G	SNV Germline	Chr2:110147901	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA2739271182	rs_2467258975	2 SubmittersRCV003747887 RCV005014875
NM_001128178.3(NPHP1):c.70-1G>T	SNV Germline	Chr2:110201495	Likely pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348094222	rs_1171179496	1 SubmittersRCV003747988
NM_001128178.3(NPHP1):c.771+130A>T	SNV Germline	Chr2:110164558	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA348091647	rs_1204764976	1 SubmittersRCV003749694
NM_001128178.3(NPHP1):c.1304G>A (p.Trp435Ter)	SNV Unknown	Chr2:110146801	Likely pathogenic	Joubert syndrome with renal defect Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter		rs_2467251817	2 SubmittersRCV004574367 RCV005939488
NM_001128178.3(NPHP1):c.1156C>T (p.Gln386Ter)	SNV Unknown	Chr2:110150184	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter		rs_2467272890	1 SubmittersRCV004574369
NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)	SNV Germline	Chr2:110169979	Pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004795762
NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)	SNV Germline	Chr2:110125663	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005028761
NM_001128178.3(NPHP1):c.1530-1G>A	SNV Germline	Chr2:110131792	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005028763
NM_001128178.3(NPHP1):c.1352+1G>A	SNV Germline	Chr2:110146752	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005028765
NM_001128178.3(NPHP1):c.859+1G>A	SNV Germline	Chr2:110163047	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005015993
NM_001128178.3(NPHP1):c.771+170T>G	SNV Germline	Chr2:110164518	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005028770
NM_001128178.3(NPHP1):c.523-1G>T	SNV Germline	Chr2:110168554	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005016003
NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)	SNV Germline	Chr2:110169827	Conflicting classifications of pathogenicity	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis	Criteria Provided Conflicting Classifications			2 SubmittersRCV005016005 RCV005063233
NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)	SNV Germline	Chr2:110204938	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005016013
NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)	SNV Germline	Chr2:110204968	Likely pathogenic	Nephronophthisis 1 Joubert syndrome with renal defect Senior-Loken syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005028779
NM_001128178.3(NPHP1):c.67C>T (p.Gln23Ter)	SNV Germline	Chr2:110204902	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter			1 SubmittersRCV005082758
NM_001128178.3(NPHP1):c.640G>T (p.Glu214Ter)	SNV Germline	Chr2:110165140	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005425471
NM_001128178.3(NPHP1):c.1716+2T>C	SNV Germline	Chr2:110129184	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005634647
NM_001128178.3(NPHP1):c.3G>A (p.Met1Ile)	SNV Germline	Chr2:110204966	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter			1 SubmittersRCV005882429
NM_001128178.3(NPHP1):c.1084-2A>G	SNV Germline	Chr2:110150258	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter			1 SubmittersRCV006494894
NM_001128178.3(NPHP1):c.430G>T (p.Glu144Ter)	SNV Germline	Chr2:110169898	Likely pathogenic	Joubert syndrome with renal defect	Criteria Provided Single Submitter			1 SubmittersRCV006739467

SNV
Germline

Chr2:110129185

Pathogenic/Likely pathogenic

Nephronophthisis 1
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348086755

rs_1233478832

4 SubmittersRCV000003682 RCV001851623 RCV003466796 RCV005016232

NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)

SNV
Germline

Chr2:110201484

Pathogenic

Nephronophthisis 1
Nephronophthisis

No Assertion Criteria Provided

CA116308

rs_121907898

2 SubmittersRCV000003684 RCV000234828

NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)

SNV
Germline

Chr2:110163048

Pathogenic

Nephronophthisis 1
Condition: not provided
Nephronophthisis
NPHP1-related disorder
Joubert syndrome with renal defect
Retinal dystrophy
Inborn genetic diseases
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA116310

rs_121907899

16 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004814818 RCV004018547 RCV005025001 RCV005887256 RCV005887255

NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=)

SNV
Germline

Chr2:110131734

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA220568

rs_398123286

2 SubmittersRCV000078489 RCV005089537

NM_001128178.3(NPHP1):c.771+2C>T

SNV
Germline

Chr2:110164686

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Retinal dystrophy
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

7 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV004815000 RCV002514380 RCV004734635

NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)

SNV
Germline

Chr2:110178520

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Nephronophthisis 1
Condition: not provided
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

9 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425 RCV004734720

NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)

SNV
Germline

Chr2:110161690

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis
Senior-Loken syndrome 1
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000305677 RCV000353470 RCV000390136 RCV001094562

NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA239100

rs_794726975

3 SubmittersRCV000173663 RCV001852113 RCV002500458

NM_001128178.3(NPHP1):c.1270-4C>T

SNV
Germline

Chr2:110146839

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128804 RCV001128803 RCV001128802 RCV001699052

NM_001128178.3(NPHP1):c.330-4G>A

SNV
Germline

Chr2:110170002

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA245909

rs_774162169

4 SubmittersRCV000178744 RCV003586162 RCV004539674 RCV005025286

NM_001128178.3(NPHP1):c.771+134G>A

SNV
Germline

Chr2:110164554

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
not specified
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA247505

rs_140151060

6 SubmittersRCV000180122 RCV001064976 RCV002265664 RCV002515290 RCV004539692

NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)

SNV
Germline

Chr2:110123912

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338494

rs_186950965

4 SubmittersRCV000199257 RCV000248910 RCV002517296

NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)

SNV
Germline

Chr2:110123964

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
not specified
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128695 RCV001128696 RCV001135698 RCV002282034 RCV002478707 RCV002517295

NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)

SNV
Germline

Chr2:110123875

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA349342

rs_144850331

4 SubmittersRCV000406042 RCV001089361 RCV004541288

NM_001128178.3(NPHP1):c.771+58C>A

SNV
Germline

Chr2:110164630

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827271

rs_367600757

3 SubmittersRCV000253367 RCV000727236 RCV001461187

NM_001128178.3(NPHP1):c.329+1G>A

SNV
Germline

Chr2:110178422

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA1827444

rs_376974221

5 SubmittersRCV000351846 RCV001859657 RCV002494861 RCV003469241 RCV003492029

NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)

SNV
Germline

Chr2:110161604

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis
Nephronophthisis 1
NPHP1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1827170

rs_140469160

7 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382 RCV006362208

NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)

SNV
Germline

Chr2:110163104

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Nephronophthisis
NPHP1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

6 SubmittersRCV000363080 RCV000765499 RCV001084490 RCV004535410 RCV004816513

NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)

SNV
Germline

Chr2:110124038

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Inborn genetic diseases
NPHP1-related disorder
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1

Criteria Provided
Conflicting Classifications

CA1826867

rs_201460699

6 SubmittersRCV000303839 RCV001067121 RCV004021253 RCV004734940 RCV005415563

NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)

SNV
Germline

Chr2:110143602

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis
not specified
Nephronophthisis 1
Condition: not provided
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827002

rs_149887461

8 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605

NM_001128178.3(NPHP1):c.771+89A>G

SNV
Germline

Chr2:110164599

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Nephronophthisis
Senior-Loken syndrome 1
Condition: not provided
Nephronophthisis 1
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827267

rs_139787582

9 SubmittersRCV000290000 RCV000325159 RCV000381986 RCV000732923 RCV001094596 RCV002487460 RCV004649130 RCV004735468

NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)

SNV
Germline

Chr2:110169872

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827390

rs_143163969

2 SubmittersRCV000267804 RCV000315824 RCV000378671 RCV001487646

NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)

SNV
Germline

Chr2:110163106

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Nephronophthisis
Joubert syndrome with renal defect
Condition: not provided
Nephronophthisis 1
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1827219

rs_141763330

5 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593 RCV004816571

NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)

SNV
Germline

Chr2:110165111

Conflicting classifications of pathogenicity

Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10611873

rs_886054755

2 SubmittersRCV000300890 RCV000335771 RCV000399200 RCV005090514

NM_001128178.3(NPHP1):c.1930G>C (p.Gly644Arg)

SNV
Germline

Chr2:110123895

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1826845

rs_760619900

1 SubmittersRCV000487521

NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser)

SNV
Germline

Chr2:110204926

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827542

rs_373915635

3 SubmittersRCV000493608 RCV001408140 RCV004535553

NM_001128178.3(NPHP1):c.772-5T>C

SNV
Germline

Chr2:110163140

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134448 RCV001134446 RCV001134447 RCV003748247

NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)

SNV
Germline

Chr2:110144503

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA1827026

rs_147945403

5 SubmittersRCV000594034 RCV000638098 RCV004543376 RCV005019023

NM_001128178.3(NPHP1):c.728+9G>A

SNV
Germline

Chr2:110165043

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA535156358

rs_1280756117

3 SubmittersRCV000595972 RCV002065178 RCV004543386

NM_001128178.3(NPHP1):c.474C>T (p.Ile158=)

SNV
Germline

Chr2:110169854

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA427919332

rs_1253817401

2 SubmittersRCV000595580 RCV002532671

NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)

SNV
Germline

Chr2:110123968

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

CA348086183

rs_1473345628

3 SubmittersRCV000627303 RCV003117437 RCV005019040

NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)

SNV
Germline

Chr2:110161686

Pathogenic

Nephronophthisis
Condition: not provided
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA1827180

rs_765263671

4 SubmittersRCV000702943 RCV001200637 RCV002507229 RCV003472242

NM_001128178.3(NPHP1):c.771+33G>A

SNV
Germline

Chr2:110164655

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827277

rs_751388694

3 SubmittersRCV000730221 RCV001405423

NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)

SNV
Germline

Chr2:110169913

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA348093020

rs_1349732291

3 SubmittersRCV000730826 RCV002493328 RCV003748273

NM_001128178.3(NPHP1):c.336G>A (p.Gly112=)

SNV
Germline

Chr2:110169992

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827411

rs_144217506

2 SubmittersRCV000730935 RCV001868961

NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)

SNV
Germline

Chr2:110201462

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827503

rs_763004817

3 SubmittersRCV000731299 RCV001078658 RCV004535844

NM_001128178.3(NPHP1):c.555A>G (p.Lys185=)

SNV
Germline

Chr2:110168521

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827359

rs_749606788

2 SubmittersRCV000734259 RCV006464130

NM_001128178.3(NPHP1):c.1430-8C>G

SNV
Germline

Chr2:110143649

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827010

rs_750113370

2 SubmittersRCV000734545 RCV001052818

NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=)

SNV
Germline

Chr2:110131790

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1826975

rs_567306113

3 SubmittersRCV000734854 RCV001435761 RCV004817964

NM_001128178.3(NPHP1):c.771+3G>A

SNV
Germline

Chr2:110164685

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA427918973

rs_1365022834

3 SubmittersRCV000735157 RCV002507313 RCV002535419

NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)

SNV
Germline

Chr2:110123939

Pathogenic/Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA348086119

rs_1311042980

3 SubmittersRCV001059818 RCV002497439 RCV003467802

NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly)

SNV
Germline

Chr2:110148020

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

CA1827101

rs_375907280

3 SubmittersRCV001042883 RCV003283887 RCV005029600

NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr2:110165137

Pathogenic/Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 1
Nephronophthisis 1
Joubert syndrome with renal defect
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA348092391

rs_753517219

3 SubmittersRCV001039504 RCV002505566 RCV003461446

NM_001128178.3(NPHP1):c.*194T>C

SNV
Germline

Chr2:110123597

Conflicting classifications of pathogenicity

Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

CA53520166

rs_189472793

1 SubmittersRCV001135695 RCV001135696 RCV001135697

NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)

SNV
Germline

Chr2:110178512

Conflicting classifications of pathogenicity

Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827461

rs_767719020

3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078

NM_001128178.3(NPHP1):c.1716+15T>C

SNV
Germline

Chr2:110129171

Conflicting classifications of pathogenicity

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1826924

rs_368590150

2 SubmittersRCV001131331 RCV001131332 RCV001134326 RCV001856698

NM_001128178.3(NPHP1):c.771+178C>T

SNV
Germline

Chr2:110164510

Conflicting classifications of pathogenicity

Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1827251

rs_767903893

2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343

NM_001128178.3(NPHP1):c.771+169G>T

SNV
Germline

Chr2:110164519

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Joubert syndrome and related disorders
Joubert syndrome with renal defect
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827253

rs_150520157

5 SubmittersRCV001203841 RCV001535975 RCV003226442 RCV003462683 RCV004734043

NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter)

SNV
Germline

Chr2:110125673

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348086728

rs_1679301117

1 SubmittersRCV001234710

NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr2:110144532

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA1827034

rs_764740388

1 SubmittersRCV001239557

NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr2:110131733

Pathogenic

Joubert syndrome with renal defect
Nephronophthisis
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
NPHP1-related disorder
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1826966

rs_547352656

6 SubmittersRCV001332330 RCV001382647 RCV001536104 RCV004734126 RCV004594273

NM_001128178.3(NPHP1):c.1270-1G>A

SNV
Germline

Chr2:110146836

Pathogenic

Nephronophthisis
Condition: not provided
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA1827070

rs_376492641

6 SubmittersRCV001390765 RCV001820089 RCV003469780

NM_001128178.3(NPHP1):c.1119G>A (p.Trp373Ter)

SNV
Germline

Chr2:110150221

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1827123

rs_753607290

1 SubmittersRCV001782536

NM_001128178.3(NPHP1):c.143+1G>A

SNV
Germline

Chr2:110201420

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA53543852

rs_745806504

1 SubmittersRCV001817736

NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)

SNV
Germline

Chr2:110201460

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1827502

rs_368025611

6 SubmittersRCV001913820 RCV005023432 RCV003134231 RCV002555758

NM_001128178.3(NPHP1):c.729-2A>G

SNV
Germline

Chr2:110164732

Likely pathogenic

Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA1827284

rs_773781058

3 SubmittersRCV002011188 RCV002492327 RCV003471256

NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter)

SNV
Germline

Chr2:110163063

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348090599

rs_1328879943

1 SubmittersRCV002035279

NM_001128178.3(NPHP1):c.143+1G>C

SNV
Germline

Chr2:110201420

Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 1
Joubert syndrome with renal defect
Nephronophthisis 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA53543840

rs_745806504

3 SubmittersRCV001970457 RCV002497908 RCV003471207

NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)

SNV
Germline

Chr2:110168477

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1
Inborn genetic diseases
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827351

rs_373951297

4 SubmittersRCV002049316 RCV002489940 RCV002545704 RCV004734292

NM_001128178.3(NPHP1):c.1084-1G>T

SNV
Germline

Chr2:110150257

Pathogenic

Nephronophthisis
NPHP1-related disorder
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348088198

rs_1458494785

4 SubmittersRCV001960023 RCV004538648 RCV004577005

NM_001128178.3(NPHP1):c.771+137G>A

SNV
Germline

Chr2:110164551

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1827257

rs_779083426

2 SubmittersRCV001942594 RCV003355582

NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)

SNV
Germline

Chr2:110131704

Conflicting classifications of pathogenicity

Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA427921736

rs_1266229950

2 SubmittersRCV001984761 RCV002484661

NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter)

SNV
Germline

Chr2:110161692

Likely pathogenic

Nephronophthisis 1

Criteria Provided
Single Submitter

CA348090381

rs_2104548702

1 SubmittersRCV002226876

NM_001128178.3(NPHP1):c.144-1G>A

SNV
Germline

Chr2:110179685

Pathogenic/Likely pathogenic

Joubert syndrome and related disorders
Nephronophthisis
Joubert syndrome with renal defect
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1827485

rs_752708835

4 SubmittersRCV002282819 RCV003586324 RCV003471306 RCV006703154

NM_001128178.3(NPHP1):c.729-1G>C

SNV
Germline

Chr2:110164731

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348092051

rs_2467370400

1 SubmittersRCV003068804

NM_001128178.3(NPHP1):c.771+58C>T

SNV
Germline

Chr2:110164630

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome with renal defect
Joubert syndrome with renal defect
Nephronophthisis 1
Senior-Loken syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1827270

rs_367600757

3 SubmittersRCV003088842 RCV003465966 RCV005412478

NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu)

SNV
Germline

Chr2:110164702

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1827282

rs_577070620

2 SubmittersRCV002611834 RCV004070523

NM_001128178.3(NPHP1):c.1717-1G>T

SNV
Germline

Chr2:110125682

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA53521659

rs_370205671

1 SubmittersRCV002576334

NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile)

SNV
Germline

Chr2:110143549

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1826997

rs_573192954

2 SubmittersRCV002592863 RCV005382427

NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr2:110204953

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348094337

rs_1486706164

1 SubmittersRCV002801310

NM_001128178.3(NPHP1):c.522+1G>C

SNV
Germline

Chr2:110169805

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348092774

rs_2467403268

1 SubmittersRCV002863746

NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)

SNV
Germline

Chr2:110204905

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348094247

rs_2467621338

1 SubmittersRCV002890327

NM_001128178.3(NPHP1):c.1158+1G>A

SNV
Germline

Chr2:110150181

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348088032

rs_2467272833

1 SubmittersRCV003007858

NM_001128178.3(NPHP1):c.523-2A>C

SNV
Germline

Chr2:110168555

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348092767

rs_2467395269

1 SubmittersRCV003049397

NM_001128178.3(NPHP1):c.625-1G>A

SNV
Unknown

Chr2:110165156

Pathogenic

Nephronophthisis 1

Criteria Provided
Single Submitter

CA348092483

rs_2467374878

1 SubmittersRCV003153060

NM_001128178.3(NPHP1):c.1083+1G>A

SNV
Germline

Chr2:110160126

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA348089319

rs_564605452

2 SubmittersRCV003155856 RCV003466028

NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)

SNV
Unknown

Chr2:110146800

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348087698

rs_1193790186

1 SubmittersRCV003471527

NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)

SNV
Unknown

Chr2:110201425

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348094061

rs_1454994826

1 SubmittersRCV003471528

NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)

SNV
Unknown

Chr2:110179677

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348093727

rs_1327440899

1 SubmittersRCV003471530

NM_001128178.3(NPHP1):c.1643-2A>G

SNV
Unknown

Chr2:110129261

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348086927

rs_1559043866

1 SubmittersRCV003471531

NM_001128178.3(NPHP1):c.625-2A>G

SNV
Unknown

Chr2:110165157

Pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348092489

rs_2467374890

1 SubmittersRCV003471532

NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)

SNV
Unknown

Chr2:110161675

Pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA1827178

rs_369977541

1 SubmittersRCV003471533

NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)

SNV
Unknown

Chr2:110165056

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348092070

rs_1482624366

1 SubmittersRCV003471534

NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)

SNV
Unknown

Chr2:110146834

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348087770

rs_2467252177

1 SubmittersRCV003471535

NM_001128178.3(NPHP1):c.1270-2A>G

SNV
Germline

Chr2:110146837

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA348087778

rs_2467252243

2 SubmittersRCV003471536 RCV003748496

NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)

SNV
Unknown

Chr2:110161622

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348090062

rs_2467344481

1 SubmittersRCV003471541

NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr2:110201437

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348094090

rs_2467599617

3 SubmittersRCV003463185 RCV003586427 RCV005021980

NM_001128178.3(NPHP1):c.1084-2A>C

SNV
Unknown

Chr2:110150258

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348088203

rs_2467273765

1 SubmittersRCV003471543

NM_001128178.3(NPHP1):c.1643-1G>C

SNV
Unknown

Chr2:110129260

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA1826936

rs_774810198

1 SubmittersRCV003463186

NM_001128178.3(NPHP1):c.771+124C>T

SNV
Germline

Chr2:110164564

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA348091677

rs_1210552017

2 SubmittersRCV003471545 RCV003748497

NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)

SNV
Unknown

Chr2:110125674

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348086733

rs_2467132150

1 SubmittersRCV003471546

NM_001128178.3(NPHP1):c.1352+2T>G

SNV
Unknown

Chr2:110146751

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348087591

rs_2467251149

1 SubmittersRCV003471547

NM_001128178.3(NPHP1):c.69+1G>T

SNV
Unknown

Chr2:110204899

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348094232

rs_1336978749

1 SubmittersRCV003471548

NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)

SNV
Unknown

Chr2:110163065

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

CA348090606

rs_2467354598

1 SubmittersRCV003471549

NM_001128178.3(NPHP1):c.1352+2T>C

SNV
Germline

Chr2:110146751

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348087592

rs_2467251149

1 SubmittersRCV003586518

NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr2:110179656

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348093679

rs_558873032

1 SubmittersRCV003586763

NM_001128178.3(NPHP1):c.860-2A>G

SNV
Germline

Chr2:110161699

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348090413

rs_2467345309

1 SubmittersRCV003586822

NM_001128178.3(NPHP1):c.522+1G>A

SNV
Germline

Chr2:110169805

Likely pathogenic

Nephronophthisis
NPHP1-related disorder
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA348092775

rs_2467403268

3 SubmittersRCV003587865 RCV004579619 RCV005014801

NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)

SNV
Germline

Chr2:110160215

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348089722

rs_2467333810

1 SubmittersRCV003749378

NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)

SNV
Germline

Chr2:110160212

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348089710

rs_2467333753

1 SubmittersRCV003749552

NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr2:110204950

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348094331

rs_759193940

1 SubmittersRCV003749948

NM_001128178.3(NPHP1):c.1269+15A>G

SNV
Germline

Chr2:110147901

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 1
Senior-Loken syndrome 1
Joubert syndrome with renal defect

Criteria Provided
Conflicting Classifications

CA2739271182

rs_2467258975

2 SubmittersRCV003747887 RCV005014875

NM_001128178.3(NPHP1):c.70-1G>T

SNV
Germline

Chr2:110201495

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348094222

rs_1171179496

1 SubmittersRCV003747988

NM_001128178.3(NPHP1):c.771+130A>T

SNV
Germline

Chr2:110164558

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA348091647

rs_1204764976

1 SubmittersRCV003749694

NM_001128178.3(NPHP1):c.1304G>A (p.Trp435Ter)

SNV
Unknown

Chr2:110146801

Likely pathogenic

Joubert syndrome with renal defect
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

rs_2467251817

2 SubmittersRCV004574367 RCV005939488

NM_001128178.3(NPHP1):c.1156C>T (p.Gln386Ter)

SNV
Unknown

Chr2:110150184

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

rs_2467272890

1 SubmittersRCV004574369

NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr2:110169979

Pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004795762

NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)

SNV
Germline

Chr2:110125663

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005028761

NM_001128178.3(NPHP1):c.1530-1G>A

SNV
Germline

Chr2:110131792

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005028763

NM_001128178.3(NPHP1):c.1352+1G>A

SNV
Germline

Chr2:110146752

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005028765

NM_001128178.3(NPHP1):c.859+1G>A

SNV
Germline

Chr2:110163047

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005015993

NM_001128178.3(NPHP1):c.771+170T>G

SNV
Germline

Chr2:110164518

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005028770

NM_001128178.3(NPHP1):c.523-1G>T

SNV
Germline

Chr2:110168554

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005016003

NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)

SNV
Germline

Chr2:110169827

Conflicting classifications of pathogenicity

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1
Nephronophthisis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005016005 RCV005063233

NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr2:110204938

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005016013

NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr2:110204968

Likely pathogenic

Nephronophthisis 1
Joubert syndrome with renal defect
Senior-Loken syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005028779

NM_001128178.3(NPHP1):c.67C>T (p.Gln23Ter)

SNV
Germline

Chr2:110204902

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV005082758

NM_001128178.3(NPHP1):c.640G>T (p.Glu214Ter)

SNV
Germline

Chr2:110165140

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005425471

NM_001128178.3(NPHP1):c.1716+2T>C

SNV
Germline

Chr2:110129184

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005634647

NM_001128178.3(NPHP1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:110204966

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV005882429

NM_001128178.3(NPHP1):c.1084-2A>G

SNV
Germline

Chr2:110150258

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV006494894

NM_001128178.3(NPHP1):c.430G>T (p.Glu144Ter)

SNV
Germline

Chr2:110169898

Likely pathogenic

Joubert syndrome with renal defect

Criteria Provided
Single Submitter

1 SubmittersRCV006739467