Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys)	SNV Germline	Chr22:40924482	Pathogenic	Nephronophthisis-like nephropathy 1	No Assertion Criteria Provided	CA113823	rs_267607179	1 SubmittersRCV000000068
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Retinitis pigmentosa Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 COG7 congenital disorder of glycosylation Abnormality of the nervous system Retinal dystrophy Meckel syndrome, type 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	SNV Germline	Chr12:88141287	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA227962	rs_62635288	6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 1 Retinitis pigmentosa Joubert syndrome 5 Retinal dystrophy Intellectual disability CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA339890	rs_137852833	3 SubmittersRCV000001401 RCV001851541 RCV003466777
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Blindness Central hypotonia Nystagmus Molar tooth sign on MRI Condition: not provided not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Retinal dystrophy CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	19 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001002715 RCV001046610 RCV001075829 RCV003155008 RCV001831504 RCV003466778 RCV003492281
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Severe hydrocephalus Polycystic kidney disease Encephalocele Leber congenital amaurosis Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	9 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001376372 RCV002496228 RCV001042869 RCV001781163 RCV003466779 RCV003887847
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	SNV Germline	Chr8:93780962	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14, modifier of Nephronophthisis Condition: not provided Joubert syndrome 6 RHYNS syndrome Meckel syndrome, type 3 Nephronophthisis 11 Familial aplasia of the vermis Meckel-Gruber syndrome COACH syndrome 1 not specified TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	14 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001158405 RCV001158406 RCV001085857 RCV001333012 RCV003488318 RCV004528064
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)	SNV Germline	Chr8:93808861	Pathogenic	Nephronophthisis 11 Joubert syndrome 6	Criteria Provided Single Submitter	CA114973	rs_267607116	2 SubmittersRCV000001450 RCV000587331
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	SNV Germline	Chr8:93795970	Pathogenic/Likely pathogenic	Joubert syndrome 6 Nephronophthisis 11 Nephronophthisis TMEM67-related disorder Renal cyst Oligohydramnios Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Inborn genetic diseases 14 conditions Bardet-Biedl syndrome 14 Nephronophthisis 11 Joubert syndrome 6 COACH syndrome 1 Meckel syndrome, type 3 RHYNS syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	14 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000415055 RCV000534533 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497
NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu)	SNV Germline	Chr8:93780747	Pathogenic	Nephronophthisis 11	No Assertion Criteria Provided	CA114981	rs_267607117	1 SubmittersRCV000001453
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)	SNV Germline	Chr8:93808861	Pathogenic	Joubert syndrome 6 Nephronophthisis 11	No Assertion Criteria Provided	CA114985	rs_267607116	1 SubmittersRCV000001455 RCV000001454
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	SNV Germline	Chr8:93780633	Pathogenic	Joubert syndrome 6 Nephronophthisis Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA251773	rs_202149403	11 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292
NM_178170.3(NEK8):c.1273C>T (p.His425Tyr)	SNV Germline	Chr17:28738721	Pathogenic	Nephronophthisis 9	No Assertion Criteria Provided	CA115024	rs_118204032	1 SubmittersRCV000001553
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	SNV Germline	Chr3:121781772	Pathogenic	Senior-Loken syndrome 5 Nephronophthisis Condition: not provided Renal dysplasia and retinal aplasia Retinal dystrophy Inborn genetic diseases IQCB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115214	rs_121918244	12 SubmittersRCV000001904 RCV000230781 RCV000681897 RCV001003059 RCV000505099 RCV003362658 RCV003398416
NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr)	SNV Germline	Chr3:132713165	Pathogenic	Nephronophthisis 3	No Assertion Criteria Provided	CA115652	rs_119456960	1 SubmittersRCV000002751
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)	SNV Germline	Chr3:132704341	Pathogenic	Nephronophthisis 3 Condition: not provided Nephronophthisis NPHP3-related Meckel-like syndrome NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3	Criteria Provided Multiple Submitters No Conflicts	CA115653	rs_119456961	6 SubmittersRCV000002752 RCV000681680 RCV001389821 RCV001197494 RCV002496236
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)	SNV Germline	Chr3:132700348	Pathogenic	NPHP3-related Meckel-like syndrome Condition: not provided Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA115655	rs_119456962	3 SubmittersRCV000002755 RCV000174180 RCV001239221
NM_153240.5(NPHP3):c.1985+5G>A	SNV Germline	Chr3:132699348	Conflicting classifications of pathogenicity	Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications		rs_754508002	4 SubmittersRCV000002758 RCV001212619 RCV003221779
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	SNV Germline	Chr3:132696798	Pathogenic	Nephronophthisis 3 Nephronophthisis Joubert syndrome and related disorders NPHP3-related Meckel-like syndrome Condition: not provided Nephronophthisis 3 NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1	Criteria Provided Multiple Submitters No Conflicts	CA115660	rs_267606916	9 SubmittersRCV000002759 RCV000234832 RCV002281691 RCV001330459 RCV001529627 RCV002496237
NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)	SNV Germline	Chr1:5887403	Pathogenic	Nephronophthisis 4	No Assertion Criteria Provided	CA116181	rs_137852918	1 SubmittersRCV000003568
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)	SNV Germline	Chr1:5887394	Pathogenic	Nephronophthisis 4 Nephronophthisis	Criteria Provided Single Submitter	CA116183	rs_137852919	2 SubmittersRCV000003569 RCV000705098
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)	SNV Germline	Chr1:5904716	Pathogenic	Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) Infertility disorder Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA116185	rs_137852920	4 SubmittersRCV000003570 RCV000162133 RCV001851618
NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser)	SNV Germline	Chr1:5874946	Pathogenic	Nephronophthisis 4	No Assertion Criteria Provided	CA116187	rs_28940891	1 SubmittersRCV000003571
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)	SNV Germline	Chr1:5887436	Pathogenic	Senior-Loken syndrome 4 Nephronophthisis	No Assertion Criteria Provided	CA116188	rs_137852922	2 SubmittersRCV000003573 RCV000234814
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)	SNV Germline	Chr1:5904788	Pathogenic	Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4	Criteria Provided Single Submitter	CA116190	rs_137852923	4 SubmittersRCV000003574 RCV000234826 RCV000735764
NM_001128178.3(NPHP1):c.1716+1G>T	SNV Germline	Chr2:110129185	Pathogenic	Nephronophthisis 1 Nephronophthisis Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts		rs_1233478832	3 SubmittersRCV000003682 RCV001851623 RCV003466796
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 Inborn genetic diseases Joubert syndrome with renal defect	Criteria Provided Multiple Submitters No Conflicts	CA116310	rs_121907899	12 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV004018547 RCV003466797
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	SNV Germline	Chr20:10413405	Pathogenic	McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-biedl syndrome 2/6, digenic Condition: not provided Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome Bardet-Biedl syndrome McKusick-Kaufman syndrome Retinal dystrophy Inborn genetic diseases Nephronophthisis Bardet-Biedl syndrome MKKS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA170910	rs_74315396	17 SubmittersRCV000005633 RCV000005634 RCV000144678 RCV000724561 RCV000763444 RCV000824067 RCV001075509 RCV001267323 RCV001328206 RCV002222341 RCV004532292
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)	SNV Germline	Chr9:100284342	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Infantile nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA121808	rs_121964994	4 SubmittersRCV000788845 RCV000816190 RCV000012737
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)	SNV Germline	Chr9:100292976	Pathogenic	Infantile nephronophthisis Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA121811	rs_267607185	4 SubmittersRCV000012739 RCV001851809
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)	SNV Germline	Chr9:100292952	Pathogenic	Infantile nephronophthisis Nephronophthisis Condition: not provided INVS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA121813	rs_200844390	9 SubmittersRCV000012740 RCV000234825 RCV002298441 RCV003415689
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly)	SNV Germline	Chr4:39215913	Pathogenic	Nephronophthisis 13	No Assertion Criteria Provided	CA129408	rs_387906983	1 SubmittersRCV000023684
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	SNV Germline	Chr3:121772659	Pathogenic	Senior-Loken syndrome 5 Retinal dystrophy Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA129459	rs_373909351	7 SubmittersRCV000023757 RCV001075299 RCV000800060
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	SNV Germline	Chr3:121790166	Pathogenic	Senior-Loken syndrome 5 Nephronophthisis Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA129461	rs_387907009	6 SubmittersRCV000023758 RCV000462160 RCV000504719
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	SNV Germline	Chr2:165941111	Pathogenic/Likely pathogenic	Nephronophthisis 12 Condition: not provided Nephronophthisis Jeune thoracic dystrophy Infantile nephronophthisis Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Retinal dystrophy Finnish congenital nephrotic syndrome Renal dysplasia and retinal aplasia Nephrotic syndrome See cases TTC21B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA259949	rs_140511594	22 SubmittersRCV000023924 RCV000681870 RCV000685092 RCV000857219 RCV000763456 RCV001074967 RCV000786982 RCV001003236 RCV001328175 RCV002251925 RCV004528134
NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter)	SNV Germline	Chr2:165919294	Pathogenic	Nephronophthisis 12	No Assertion Criteria Provided	CA259950	rs_387907059	1 SubmittersRCV000023925
NM_024753.5(TTC21B):c.2758-2A>G	SNV Germline	Chr2:165899882	Pathogenic/Likely pathogenic	Nephronophthisis 12 Infantile nephronophthisis Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA259952	rs_766132877	4 SubmittersRCV000023926 RCV000857220 RCV001535927 RCV001852034
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)	SNV Germline	Chr2:165929290	Pathogenic	Asphyxiating thoracic dystrophy 4 Condition: not provided Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA129549	rs_185089786	3 SubmittersRCV000023927 RCV000627256 RCV001857364
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	SNV Germline	Chr16:1592176	Pathogenic/Likely pathogenic	Saldino-Mainzer syndrome Condition: not provided Jeune thoracic dystrophy Nephronophthisis Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Saldino-Mainzer syndrome Retinitis pigmentosa 80	Criteria Provided Multiple Submitters No Conflicts	CA129889	rs_201188361	13 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV001328311 RCV000626465 RCV001249674
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg)	SNV Germline	Chr11:117412166	Pathogenic	Nephronophthisis 15	No Assertion Criteria Provided		rs_1565649749	1 SubmittersRCV000030833
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)	SNV Germline	Chr11:117338618	Pathogenic	Nephronophthisis 15	No Assertion Criteria Provided	CA130149	rs_387907309	1 SubmittersRCV000030834
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	SNV Germline	Chr11:117351872	Likely pathogenic	Nephronophthisis 15	Criteria Provided Multiple Submitters No Conflicts	CA130150	rs_387907310	3 SubmittersRCV000030835
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)	SNV Germline	Chr11:117381864	Pathogenic	Nephronophthisis 15	Criteria Provided Single Submitter	CA130151	rs_387907311	2 SubmittersRCV000030836
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)	SNV Germline	Chr11:117387204	Pathogenic	Nephronophthisis 15	Criteria Provided Multiple Submitters No Conflicts	CA130153	rs_145646425	3 SubmittersRCV000030837
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	SNV Germline	Chr12:88139153	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	7 SubmittersRCV000050147 RCV001053674 RCV001091341 RCV001274137 RCV003466923
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)	SNV Germline	Chr9:98780235	Conflicting classifications of pathogenicity	Nephronophthisis 16	Criteria Provided Conflicting Classifications	CA144684	rs_377750405	4 SubmittersRCV000054548
NM_173551.5(ANKS6):c.1973-3C>G	SNV Germline	Chr9:98768253	Pathogenic/Likely pathogenic	Nephronophthisis 16 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144685	rs_397514257	4 SubmittersRCV000054549 RCV000578679
NM_173551.5(ANKS6):c.2512-2A>C	SNV Germline	Chr9:98736625	Pathogenic	Nephronophthisis 16	No Assertion Criteria Provided	CA144689	rs_397514258	1 SubmittersRCV000054552
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	SNV Germline	Chr17:28741140	Pathogenic/Likely pathogenic	Renal-hepatic-pancreatic dysplasia 2 Condition: not provided Premature ovarian insufficiency Renal-hepatic-pancreatic dysplasia 2 Nephronophthisis 9	Criteria Provided Multiple Submitters No Conflicts	CA144773	rs_375661404	9 SubmittersRCV000055629 RCV001699113 RCV000766162 RCV002483083
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 Nephronophthisis 1 Senior-Loken syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220570	rs_189320299	5 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380
NM_014425.5(INVS):c.-17C>T	SNV Germline	Chr9:100104505	Conflicting classifications of pathogenicity	Condition: not provided Infantile nephronophthisis	Criteria Provided Conflicting Classifications	CA223137	rs_181463817	2 SubmittersRCV000081625 RCV001169333
NM_014425.5(INVS):c.2775C>T (p.Arg925=)	SNV Germline	Chr9:100293032	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA223140	rs_146360442	2 SubmittersRCV000081630 RCV001523705
NM_015102.5(NPHP4):c.1005A>G (p.Gln335=)	SNV Germline	Chr1:5947218	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA223173	rs_398124287	2 SubmittersRCV000081703 RCV002055212
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	SNV Germline	Chr1:5867883	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Condition: not provided Kidney disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA223178	rs_139767853	13 SubmittersRCV000081715 RCV000331197 RCV000292444 RCV001093742 RCV001573175 RCV002294019 RCV002498430
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	SNV Germline	Chr1:5863367	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA148749	rs_35641267	7 SubmittersRCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858
NM_015272.5(RPGRIP1L):c.2153-4G>C	SNV Germline	Chr16:53649119	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA223182	rs_201380599	7 SubmittersRCV000081722 RCV000636978 RCV001118787 RCV001120738 RCV001120739 RCV001573698
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	SNV Germline	Chr16:53641066	Conflicting classifications of pathogenicity	not specified Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Condition: not provided RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA148755	rs_144313291	8 SubmittersRCV000081725 RCV000323400 RCV000280063 RCV000372251 RCV000547462 RCV001271273 RCV002262625 RCV004528293
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000366483 RCV000351974 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)	SNV Germline	Chr3:132708219	Conflicting classifications of pathogenicity	Condition: not provided not specified Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 See cases NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA224190	rs_142021049	8 SubmittersRCV000082660 RCV000259061 RCV001086780 RCV001145353 RCV001145354 RCV001145352 RCV002251973 RCV004529870
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)	SNV Germline	Chr3:132722202	Conflicting classifications of pathogenicity	not specified Condition: not provided Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis Nephronophthisis 3 NPHP3-related Meckel-like syndrome Kidney disorder	Criteria Provided Conflicting Classifications	CA149567	rs_145643112	14 SubmittersRCV000082661 RCV000434124 RCV000987337 RCV001083406 RCV001148319 RCV001148320 RCV002294022
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)	SNV Germline	Chr3:132692760	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome and related disorders Nephronophthisis NPHP3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA201362	rs_398124546	4 SubmittersRCV000175246 RCV002281916 RCV002513853 RCV004528299
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=)	SNV Germline	Chr3:132690533	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA224191	rs_150489788	2 SubmittersRCV000082667 RCV001434859
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)	SNV Germline	Chr3:132684751	Pathogenic	Condition: not provided Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 NPHP3-related Meckel-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA201960	rs_368138001	3 SubmittersRCV000176505 RCV001246215 RCV002483155
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	7 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227973	rs_62640574	5 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	8 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	SNV Germline	Chr12:88092700	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA150905	rs_372190684	4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)	SNV Germline	Chr8:93799678	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11	Criteria Provided Conflicting Classifications	CA150995	rs_116445698	8 SubmittersRCV000114245 RCV000419164 RCV001079645 RCV001163245 RCV001163246 RCV001163247
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)	SNV Germline	Chr4:39218103	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Nephronophthisis 13 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA151406	rs_587777349	4 SubmittersRCV000115011 RCV001281114 RCV001753491 RCV001854543
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter)	SNV Germline	Chr4:39205232	Pathogenic	Nephronophthisis 13	No Assertion Criteria Provided	CA151408	rs_587777350	1 SubmittersRCV000115012
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)	SNV Germline	Chr4:39274945	Pathogenic/Likely pathogenic	Nephronophthisis 13 Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts	CA151410	rs_587777351	6 SubmittersRCV000115013 RCV000788500 RCV001281118 RCV001854544 RCV002477273
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr4:39273029	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Condition: not provided Cranioectodermal dysplasia Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Leber congenital amaurosis Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA151412	rs_79436363	8 SubmittersRCV000115014 RCV000433622 RCV000754960 RCV000653250 RCV000850617 RCV001262101 RCV003224149 RCV003224150
NM_025132.4(WDR19):c.3565+1G>A	SNV Germline	Chr4:39273062	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA151414	rs_587777352	8 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001212609 RCV001797626 RCV002277157
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)	SNV Germline	Chr16:4335060	Pathogenic	Nephronophthisis 7 Nephronophthisis	No Assertion Criteria Provided	CA278429	rs_587777353	2 SubmittersRCV000115016 RCV000234822
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)	SNV Germline	Chr2:165917310	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 4 not specified Nephronophthisis 12 Nephronophthisis Jeune thoracic dystrophy Connective tissue disorder	Criteria Provided Conflicting Classifications	CA231579	rs_139441507	8 SubmittersRCV000118723 RCV000407344 RCV000244338 RCV000349862 RCV001080770 RCV002277178
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)	SNV Germline	Chr2:165880687	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA231581	rs_140384742	6 SubmittersRCV000118728 RCV001078717 RCV001131126 RCV001131125 RCV004529986
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000266641 RCV000297299 RCV000262275 RCV000321698 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV000293222 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	7 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV002294038 RCV001812002
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)	SNV Germline	Chr12:94412370	Pathogenic	Nephronophthisis 18	Criteria Provided Single Submitter	CA163247	rs_587777486	2 SubmittersRCV000128439
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)	SNV Germline	Chr12:94411780	Pathogenic	Nephronophthisis 18	Criteria Provided Single Submitter	CA163250	rs_368619022	2 SubmittersRCV000128441
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)	SNV Germline	Chr12:94333527	Pathogenic	Nephronophthisis 18	Criteria Provided Single Submitter	CA163253	rs_587777487	2 SubmittersRCV000128443
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)	SNV Germline	Chr12:94378967	Pathogenic	Nephronophthisis 18 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA163256	rs_369483167	5 SubmittersRCV000128444 RCV001528375
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)	SNV Germline	Chr12:94333529	Pathogenic	Nephronophthisis 18	No Assertion Criteria Provided	CA163259	rs_587777488	1 SubmittersRCV000128445
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Joubert syndrome 1 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001109949 RCV001109950 RCV001110732 RCV001110731 RCV001272010 RCV003888568
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	6 SubmittersRCV000144459 RCV002492522 RCV001384909 RCV003387770 RCV003467201 RCV003888575
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr12:88089157	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277711	rs_587783016	5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	SNV Germline	Chr6:151430154	Conflicting classifications of pathogenicity	Mitochondrial disease Combined oxidative phosphorylation defect type 11 Condition: not provided Mitochondrial oxidative phosphorylation disorder Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA048459	rs_144972972	15 SubmittersRCV000240809 RCV000415572 RCV000356860 RCV000826150 RCV001328257 RCV004020580
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	SNV Germline	Chr12:88086443	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV000373904 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001110739 RCV001079764 RCV001109956 RCV001110741 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)	SNV Germline	Chr3:132708187	Conflicting classifications of pathogenicity	not specified Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA234417	rs_141477666	5 SubmittersRCV000153593 RCV000168169 RCV001145351 RCV001145350 RCV001149669 RCV001704114
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	14 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	SNV Germline	Chr1:5875036	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis Kidney disorder Cholestasis	Criteria Provided Conflicting Classifications	CA333575	rs_183885357	8 SubmittersRCV000153585 RCV000206662 RCV000986223 RCV001098462 RCV001084832 RCV002294050 RCV003447506
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)	SNV Germline	Chr3:132684574	Conflicting classifications of pathogenicity	not specified Nephronophthisis Condition: not provided Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA180240	rs_34391943	8 SubmittersRCV000153592 RCV000226496 RCV000224286 RCV000280342 RCV000404782 RCV001094788 RCV003224174
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)	SNV Germline	Chr12:88118527	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233677	rs_727503854	5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719
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	Criteria Provided Conflicting Classifications	CA234415	rs_140446520	8 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr3:121790112	Pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA200804	rs_727503968	4 SubmittersRCV000174030 RCV000707207 RCV002250577
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	SNV Germline	Chr16:53649028	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA233780	rs_142349647	7 SubmittersRCV000327884 RCV000284497 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)	SNV Germline	Chr12:88071446	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA233668	rs_727503852	2 SubmittersRCV000152971 RCV001425231
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000344957 RCV000399776 RCV000291841 RCV000400108 RCV000346891 RCV001085341 RCV003888583
NM_001023570.4(IQCB1):c.264-2A>T	SNV Germline	Chr3:121826182	Pathogenic	Condition: not provided Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA203031	rs_727503969	3 SubmittersRCV000178818 RCV002514955 RCV004567175
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)	SNV Germline	Chr1:5864491	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis not specified	Criteria Provided Conflicting Classifications	CA234406	rs_9662691	3 SubmittersRCV000153582 RCV001089345 RCV003150952
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)	SNV Germline	Chr1:5864497	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA234408	rs_375237454	3 SubmittersRCV000153583 RCV001087673 RCV004544399
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)	SNV Germline	Chr16:53622279	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA234809	rs_146902870	8 SubmittersRCV000252274 RCV000475862 RCV001116966 RCV001116965 RCV001116967 RCV001704116 RCV002294053
NM_022098.4(XPNPEP3):c.590-8A>G	SNV Germline	Chr22:40886305	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis-like nephropathy 1	Criteria Provided Conflicting Classifications	CA235272	rs_143719656	5 SubmittersRCV000154150 RCV001083063
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)	SNV Germline	Chr6:24290987	Pathogenic	Nephronophthisis 19 Isolated neonatal sclerosing cholangitis	No Assertion Criteria Provided	CA185948	rs_730880299	1 SubmittersRCV000157642 RCV000477678
NM_016356.5(DCDC2):c.349-2A>G	SNV Germline	Chr6:24302046	Pathogenic	Nephronophthisis 19 Condition: not provided Isolated neonatal sclerosing cholangitis Nephronophthisis 19 Autosomal recessive nonsyndromic hearing loss 66 Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66	Criteria Provided Multiple Submitters No Conflicts	CA3654791	rs_760040426	5 SubmittersRCV000157644 RCV000731261 RCV002498783 RCV001850190
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)	SNV Germline	Chr1:5863955	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA235731	rs_369162678	5 SubmittersRCV000171146 RCV000308383 RCV001093794 RCV000346948 RCV002478540
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)	SNV Germline	Chr1:5874542	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA235733	rs_373369949	4 SubmittersRCV000171147 RCV001058651 RCV004535163 RCV002485085
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)	SNV Germline	Chr4:39253193	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA236213	rs_751386429	3 SubmittersRCV000171376 RCV002515238 RCV003989482
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)	SNV Germline	Chr3:132722251	Conflicting classifications of pathogenicity	not specified Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA239038	rs_377060857	10 SubmittersRCV000173577 RCV000261403 RCV000332047 RCV000370311 RCV001094879 RCV001704248 RCV002294060
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 Senior-Loken syndrome 1 Nephronophthisis Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA239098	rs_371112962	4 SubmittersRCV000173662 RCV000305677 RCV000390136 RCV000353470 RCV001094562
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)	SNV Germline	Chr2:110161645	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 1 Nephronophthisis 1 Joubert syndrome with renal defect	Criteria Provided Conflicting Classifications	CA239100	rs_794726975	3 SubmittersRCV000173663 RCV001852113 RCV002500458
NM_001023570.4(IQCB1):c.877-10G>A	SNV Germline	Chr3:121795576	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA239156	rs_371057369	2 SubmittersRCV000173719 RCV001419219
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)	SNV Germline	Chr16:53664957	Conflicting classifications of pathogenicity	Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Familial aplasia of the vermis Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA239324	rs_137982921	10 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)	SNV Germline	Chr9:100284460	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA240125	rs_116314059	4 SubmittersRCV000174577 RCV001081209 RCV003937566
NM_015102.5(NPHP4):c.1533G>A (p.Pro511=)	SNV Germline	Chr1:5907193	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA240127	rs_775251652	2 SubmittersRCV000174579 RCV001474060
NM_001128178.3(NPHP1):c.1270-4C>T	SNV Germline	Chr2:110146839	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA240230	rs_151204566	8 SubmittersRCV000174670 RCV000230927 RCV001128802 RCV001128804 RCV001128803 RCV001699052
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)	SNV Germline	Chr9:100292766	Pathogenic	Condition: not provided Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA201168	rs_755549444	2 SubmittersRCV000174768 RCV001852129
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)	SNV Germline	Chr9:100292568	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA240334	rs_115754570	4 SubmittersRCV000174771 RCV001084833 RCV003947476
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)	SNV Germline	Chr1:5905763	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 not specified	Criteria Provided Conflicting Classifications	CA240343	rs_201903713	5 SubmittersRCV000174775 RCV000261125 RCV000316449 RCV001093920 RCV001698987
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)	SNV Germline	Chr2:165917459	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4	Criteria Provided Conflicting Classifications	CA240377	rs_146320075	6 SubmittersRCV000174799 RCV001078741 RCV000764280 RCV000755750 RCV001134339
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV000835406 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001084413 RCV001112002
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)	SNV Germline	Chr2:165913617	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA240782	rs_151309609	3 SubmittersRCV000175100 RCV000695456 RCV002485132
NM_153240.5(NPHP3):c.2172-4A>G	SNV Germline	Chr3:132694969	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP3-related Meckel-like syndrome Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1	Criteria Provided Conflicting Classifications	CA240794	rs_375032661	4 SubmittersRCV000175106 RCV001207746 RCV002485133
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	SNV Germline	Chr1:5890915	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Kidney disorder Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA334827	rs_148424288	10 SubmittersRCV000175205 RCV000204681 RCV000392070 RCV001573161 RCV002294061 RCV001093856
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)	SNV Germline	Chr1:5890969	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA240913	rs_191913664	9 SubmittersRCV000724060 RCV000986226 RCV001088494 RCV001100471 RCV004537377
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	SNV Germline	Chr16:53645665	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA201346	rs_139503476	7 SubmittersRCV000175209 RCV000514096 RCV001082641 RCV001120643 RCV001120644 RCV001120642 RCV004537378
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)	SNV Germline	Chr3:132692687	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA240970	rs_111683745	5 SubmittersRCV000175248 RCV001087576
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)	SNV Germline	Chr12:88117141	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA241104	rs_372349042	5 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034
NM_015102.5(NPHP4):c.39T>G (p.Leu13=)	SNV Germline	Chr1:5986251	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA241676	rs_368335406	2 SubmittersRCV000175868 RCV002056944
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)	SNV Germline	Chr16:4333413	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 7 GLIS2-related disorder not specified	Criteria Provided Conflicting Classifications	CA241809	rs_144447862	7 SubmittersRCV000175958 RCV001079077 RCV001116957 RCV003917633 RCV004020088
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)	SNV Germline	Chr2:165901892	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Condition: not provided Jeune thoracic dystrophy Nephronophthisis TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA241983	rs_34489989	12 SubmittersRCV000304805 RCV000398651 RCV000509503 RCV000634201 RCV004537393
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)	SNV Germline	Chr1:5874953	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA242083	rs_116606479	10 SubmittersRCV000261619 RCV000367814 RCV000723970 RCV001093746 RCV004537396
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)	SNV Germline	Chr1:5874890	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA242085	rs_200166175	4 SubmittersRCV000176217 RCV001085756 RCV004539632
NM_015102.5(NPHP4):c.2892C>T (p.Ala964=)	SNV Germline	Chr1:5875026	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Kidney disorder	Criteria Provided Conflicting Classifications	CA242088	rs_762709199	3 SubmittersRCV000176221 RCV001479926 RCV002294062
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	SNV Germline	Chr2:165890935	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Chronic kidney disease Nephronophthisis 12 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA201936	rs_146496725	12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135581 RCV001171333 RCV001135582 RCV002277374
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)	SNV Germline	Chr1:5867758	Conflicting classifications of pathogenicity	not specified Nephronophthisis Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA242462	rs_560329867	3 SubmittersRCV000176491 RCV000862808 RCV003224190
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)	SNV Germline	Chr12:88107095	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome not specified	Criteria Provided Conflicting Classifications	CA242475	rs_371159780	5 SubmittersRCV000176500 RCV001074978 RCV001086387 RCV003150970
NM_024753.5(TTC21B):c.3264-3C>G	SNV Germline	Chr2:165888477	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA242578	rs_189122492	4 SubmittersRCV000176591 RCV001369448 RCV002478579 RCV003333035
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	10 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001082205 RCV001111528 RCV001111529 RCV001113514 RCV001113515 RCV001275025 RCV004528939
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)	SNV Germline	Chr3:132682759	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA242727	rs_143451766	8 SubmittersRCV000176699 RCV000814429 RCV001147810 RCV001147808 RCV001147809 RCV004537410
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)	SNV Germline	Chr1:5864423	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA242973	rs_115488133	6 SubmittersRCV000176884 RCV000864161 RCV001099939 RCV001101945 RCV001753581 RCV004537416
NM_014425.5(INVS):c.114T>C (p.Ser38=)	SNV Germline	Chr9:100126390	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA243424	rs_114056499	3 SubmittersRCV000177284 RCV001085128 RCV003907594
NM_015102.5(NPHP4):c.267C>T (p.Ile89=)	SNV Germline	Chr1:5978282	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA243428	rs_372171438	3 SubmittersRCV000177286 RCV001425138 RCV004537427
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)	SNV Germline	Chr1:5978278	Conflicting classifications of pathogenicity	not specified Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA243432	rs_201065230	9 SubmittersRCV000177288 RCV000723456 RCV000764007 RCV001081496 RCV001097313 RCV001097312
NM_032575.3(GLIS2):c.522+10G>A	SNV Germline	Chr16:4334987	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA243568	rs_569937790	2 SubmittersRCV000177391 RCV001431810
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)	SNV Germline	Chr12:88087943	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA244171	rs_369227219	7 SubmittersRCV000177661 RCV001239880 RCV001826902 RCV004020112 RCV004539654
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr12:88087872	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis not specified	Criteria Provided Conflicting Classifications	CA244173	rs_184143186	7 SubmittersRCV000177662 RCV001080328 RCV001273073 RCV003150971
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	9 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864
NM_025114.4(CEP290):c.5013-7A>C	SNV Germline	Chr12:88080402	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA244955	rs_762217156	2 SubmittersRCV000177954 RCV001496142
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000320490 RCV000328615 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)	SNV Germline	Chr9:100226155	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA245342	rs_149315279	5 SubmittersRCV000178293 RCV001089273 RCV003907613
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	SNV Germline	Chr12:88060900	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA202959	rs_191613017	5 SubmittersRCV000178636 RCV000637007 RCV001272011 RCV001697163
NM_025114.4(CEP290):c.6523-6T>C	SNV Germline	Chr12:88060026	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245845	rs_794727692	3 SubmittersRCV000178672 RCV001451553 RCV002517742
NM_001128178.3(NPHP1):c.330-4G>A	SNV Germline	Chr2:110170002	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA245909	rs_774162169	3 SubmittersRCV000178744 RCV003586162 RCV004539674
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)	SNV Germline	Chr16:49637521	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 14 ZNF423-related disorder	Criteria Provided Conflicting Classifications	CA246161	rs_34425379	4 SubmittersRCV000178951 RCV001078488 RCV003937620
NM_001379286.1(ZNF423):c.2649C>T (p.Ser883=)	SNV Germline	Chr16:49636527	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA246167	rs_781131703	2 SubmittersRCV000178953 RCV001309493
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=)	SNV Germline	Chr16:49638369	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA246170	rs_145503941	2 SubmittersRCV000178954 RCV001088120
NM_001379286.1(ZNF423):c.2400C>T (p.Thr800=)	SNV Germline	Chr16:49636776	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA246179	rs_151102991	2 SubmittersRCV000178958 RCV001453333
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)	SNV Germline	Chr2:165941046	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA246806	rs_149925563	9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132638 RCV001132639 RCV004537489
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003227695 RCV003888636 RCV003488430 RCV004539683
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	11 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490
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_015102.5(NPHP4):c.945G>A (p.Thr315=)	SNV Germline	Chr1:5948117	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA247724	rs_115272639	2 SubmittersRCV000180327 RCV001081536
NM_153240.5(NPHP3):c.2089-9C>T	SNV Germline	Chr3:132696822	Conflicting classifications of pathogenicity	not specified Nephronophthisis NPHP3-related Meckel-like syndrome Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA207387	rs_141397228	6 SubmittersRCV000193710 RCV000535033 RCV001149549 RCV001149550 RCV001149551 RCV001705082
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)	SNV Germline	Chr12:88071409	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA208989	rs_780570235	3 SubmittersRCV000194670 RCV000867286 RCV004530109
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)	SNV Germline	Chr12:88092734	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA206711	rs_11836796	4 SubmittersRCV000193317 RCV001487901 RCV004530107
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)	SNV Germline	Chr12:88120196	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA206543	rs_777299440	3 SubmittersRCV000193213 RCV000870071 RCV004541238
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)	SNV Germline	Chr16:53641352	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided Joubert syndrome 7 Inborn genetic diseases Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA207998	rs_146197239	10 SubmittersRCV000194076 RCV000861106 RCV001117062 RCV001117063 RCV001698998 RCV001117064 RCV002517128 RCV001833139
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)	SNV Germline	Chr16:53687963	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 Familial aplasia of the vermis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206389	rs_140067659	9 SubmittersRCV000193122 RCV000861107 RCV001120944 RCV001120942 RCV001120943 RCV001271340 RCV001699228 RCV004020339
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)	SNV Germline	Chr1:5863916	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 not specified	Criteria Provided Conflicting Classifications	CA337751	rs_374146357	6 SubmittersRCV000198249 RCV000407300 RCV000596396 RCV001093793 RCV001699062
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)	SNV Germline	Chr1:5905312	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA337864	rs_200104274	3 SubmittersRCV000728888 RCV002054348 RCV004530186
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)	SNV Germline	Chr1:5909173	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA336982	rs_199557439	3 SubmittersRCV000593510 RCV001085875 RCV004541272
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 Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome with renal defect not specified Inborn genetic diseases Joubert syndrome with renal defect Senior-Loken syndrome 1 Nephronophthisis 1	Criteria Provided Conflicting Classifications	CA336743	rs_780427871	6 SubmittersRCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)	SNV Germline	Chr2:165890519	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA338218	rs_34925776	4 SubmittersRCV000198827 RCV000417538 RCV001134079 RCV001134078 RCV002492924
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)	SNV Germline	Chr2:165941053	Pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter	CA337921	rs_777162250	1 SubmittersRCV001383380
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)	SNV Germline	Chr3:121772575	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 5 not specified Condition: not provided IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA336283	rs_139468837	9 SubmittersRCV000196260 RCV000299620 RCV000351992 RCV001562096 RCV003947644
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)	SNV Germline	Chr3:132699988	Pathogenic/Likely pathogenic	Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA336458	rs_182135982	3 SubmittersRCV000196484 RCV000763096 RCV000788946
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys)	SNV Germline	Chr3:132713256	Pathogenic	Nephronophthisis	Criteria Provided Single Submitter	CA337187	rs_758498695	1 SubmittersRCV000197404
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)	SNV Germline	Chr8:93755100	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome not specified Meckel syndrome, type 3 Joubert syndrome 6 Nephronophthisis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA336379	rs_115660279	6 SubmittersRCV000196386 RCV000245192 RCV000291370 RCV000339372 RCV000377674 RCV001705157
NM_014425.5(INVS):c.2803C>T (p.His935Tyr)	SNV Germline	Chr9:100296933	Conflicting classifications of pathogenicity	Nephronophthisis not specified Infantile nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA336473	rs_139768159	4 SubmittersRCV000196500 RCV000378702 RCV001166462 RCV003430754
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser)	SNV Germline	Chr16:4337054	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 7	Criteria Provided Conflicting Classifications	CA336973	rs_200720013	3 SubmittersRCV000197087 RCV000764071
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)	SNV Germline	Chr5:37244521	Conflicting classifications of pathogenicity	Joubert syndrome 17 not specified Condition: not provided Nephronophthisis Joubert syndrome and related disorders CPLANE1-related disorder	Criteria Provided Conflicting Classifications	CA277763	rs_756856188	8 SubmittersRCV000201674 RCV000500106 RCV000686452 RCV001328280 RCV003330576 RCV003907754
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	SNV Germline	Chr6:135455811	Pathogenic	Joubert syndrome 3 Familial aplasia of the vermis Condition: not provided Retinal dystrophy Nephronophthisis Rod-cone dystrophy Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA339611	rs_777668842	9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	SNV Germline	Chr8:93786255	Conflicting classifications of pathogenicity	Joubert syndrome 6 Oligohydramnios Renal cyst Familial aplasia of the vermis Inborn genetic diseases 14 conditions Meckel syndrome, type 3 Bardet-Biedl syndrome 14 COACH syndrome 1 Nephronophthisis 11 Joubert syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 3	Criteria Provided Conflicting Classifications	CA277817	rs_752362727	6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV003997037
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	SNV Germline	Chr8:93797456	Conflicting classifications of pathogenicity	Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 3 Nephronophthisis 11 not specified	Criteria Provided Conflicting Classifications	CA279453	rs_863225238	5 SubmittersRCV000201654 RCV001307480 RCV001161723 RCV001163244 RCV001804938
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	4 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	6 SubmittersRCV000201766 RCV000763310 RCV000598977 RCV001058542 RCV003468923
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Blindness Global developmental delay Condition: not provided Occipital encephalocele Cystic renal dysplasia Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	10 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	13 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Occipital encephalocele Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	14 SubmittersRCV000201563 RCV000502726 RCV000816913 RCV000763314 RCV001002937 RCV001030764 RCV001589085 RCV001529566 RCV003468919
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	SNV Germline	Chr12:88111226	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinal dystrophy Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA277728	rs_748034744	3 SubmittersRCV000201605 RCV001074504 RCV001471584
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	4 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	SNV Germline	Chr12:88130283	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279451	rs_863225185	4 SubmittersRCV000201653 RCV000503197 RCV003159108 RCV002519580
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_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)	SNV Germline	Chr3:121772683	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Senior-Loken syndrome 5 Nephronophthisis IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA348358	rs_140630401	6 SubmittersRCV000519668 RCV000787845 RCV001147493 RCV001082244 RCV003917846
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)	SNV Germline	Chr3:132682752	Conflicting classifications of pathogenicity	Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Condition: not provided Nephronophthisis 3 Nephronophthisis 3 NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA349679	rs_146054765	6 SubmittersRCV000205530 RCV000261216 RCV000323357 RCV000732437 RCV001094833 RCV002500642 RCV002517369
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	SNV Germline	Chr8:93765416	Pathogenic/Likely pathogenic	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis 11	Criteria Provided Multiple Submitters No Conflicts	CA348322	rs_138783896	2 SubmittersRCV000204053 RCV001281327
NM_014425.5(INVS):c.1945G>A (p.Val649Met)	SNV Germline	Chr9:100284480	Conflicting classifications of pathogenicity	Nephronophthisis Infantile nephronophthisis Condition: not provided INVS-related disorder	Criteria Provided Conflicting Classifications	CA350505	rs_115042730	4 SubmittersRCV000206479 RCV001095342 RCV000595326 RCV003937782
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser)	SNV Germline	Chr16:4337129	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 7	Criteria Provided Conflicting Classifications	CA348424	rs_775114398	2 SubmittersRCV000204182 RCV001094256
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu)	SNV Germline	Chr3:132699418	Pathogenic/Likely pathogenic	Inborn genetic diseases Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA358008	rs_869312915	2 SubmittersRCV000210561 RCV002517434
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)	SNV Germline	Chr16:53652951	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Inborn genetic diseases Meckel syndrome, type 5 COACH syndrome 3 Joubert syndrome 7 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057711	rs_148230131	8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002519757 RCV002500747 RCV004529383
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	SNV Germline	Chr16:53664948	Conflicting classifications of pathogenicity	Condition: not provided not specified Meckel syndrome, type 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis 8 Joubert syndrome 7 Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057886	rs_79708859	8 SubmittersRCV000224232 RCV000253760 RCV001120842 RCV001079549 RCV001120843 RCV001120844 RCV001833234 RCV004529384
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	6 SubmittersRCV000225517 RCV001782716 RCV001833239 RCV001223284 RCV003155133 RCV003469116
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)	SNV Germline	Chr12:88140988	Likely pathogenic	Retinal dystrophy Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Single Submitter	CA10581687	rs_878853363	2 SubmittersRCV000225409 RCV001854802
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	SNV Germline	Chr1:5890953	Conflicting classifications of pathogenicity	Nephronophthisis not specified Senior-Loken syndrome 4 Nephronophthisis 4 Atypical hemolytic-uremic syndrome Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA554238	rs_34248917	7 SubmittersRCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236
NM_014425.5(INVS):c.2310C>T (p.His770=)	SNV Germline	Chr9:100292567	Conflicting classifications of pathogenicity	Nephronophthisis not specified Infantile nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA5158595	rs_116606949	6 SubmittersRCV000226248 RCV000247908 RCV000625266 RCV000726903
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	2 SubmittersRCV000226860 RCV001109948 RCV001109944 RCV001109946 RCV001109945 RCV001109947
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	7 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)	SNV Germline	Chr16:53619079	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057257	rs_142317242	4 SubmittersRCV000232122 RCV000271829 RCV000302183 RCV000359252 RCV001271323 RCV004532945
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)	SNV Germline	Chr8:93799758	Conflicting classifications of pathogenicity	Nephronophthisis not specified Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Kidney disorder	Criteria Provided Conflicting Classifications	CA4808233	rs_115563233	7 SubmittersRCV000234818 RCV000251115 RCV000723708 RCV001087450 RCV001163249 RCV001163248 RCV001163250 RCV002294093
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)	SNV Germline	Chr9:100293039	Conflicting classifications of pathogenicity	Nephronophthisis Infantile nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA5158689	rs_376879175	4 SubmittersRCV000234833 RCV000778112 RCV000732003
NM_032575.3(GLIS2):c.775+1G>T	SNV Germline	Chr16:4335394	Pathogenic	Nephronophthisis Nephronophthisis 7	No Assertion Criteria Provided	CA10583997	rs_878855335	2 SubmittersRCV000234831 RCV001824027
NM_025114.4(CEP290):c.943-4C>T	SNV Germline	Chr12:88126442	Conflicting classifications of pathogenicity	not specified CEP290-related ciliopathies Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6712651	rs_199770158	7 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV001083590 RCV002519864
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)	SNV Germline	Chr15:89633777	Conflicting classifications of pathogenicity	not specified Condition: not provided Acrocallosal syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA7728123	rs_138354681	9 SubmittersRCV000239249 RCV000514812 RCV001086870 RCV001328108
NM_015102.5(NPHP4):c.4141-11C>T	SNV Germline	Chr1:5863416	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553320	rs_139203183	3 SubmittersRCV000286079 RCV000377961 RCV001522225 RCV004529440
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)	SNV Germline	Chr1:5875098	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA553910	rs_35575973	4 SubmittersRCV000242359 RCV000291890 RCV000386368 RCV000726860 RCV001093848
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_024753.5(TTC21B):c.3519T>G (p.Thr1173=)	SNV Germline	Chr2:165883959	Conflicting classifications of pathogenicity	not specified Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1941480	rs_115504901	8 SubmittersRCV000248204 RCV000305694 RCV000358176 RCV000756832 RCV001311939 RCV002278218
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala)	SNV Germline	Chr2:165888322	Conflicting classifications of pathogenicity	not specified Condition: not provided Jeune thoracic dystrophy Nephronophthisis Inborn genetic diseases Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1941516	rs_149454830	6 SubmittersRCV000252032 RCV001697725 RCV000861670 RCV002518656 RCV002278217
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)	SNV Germline	Chr2:165901879	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA1941767	rs_76726265	8 SubmittersRCV000252244 RCV000861928 RCV001134203 RCV001134204 RCV001705374
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)	SNV Germline	Chr2:165915325	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Condition: not provided Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA1941956	rs_140757802	5 SubmittersRCV000253498 RCV000516123 RCV001589274 RCV001854967
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)	SNV Germline	Chr2:165917480	Conflicting classifications of pathogenicity	not specified Condition: not provided Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA1942041	rs_149325238	5 SubmittersRCV000249020 RCV000861850 RCV001135808 RCV001135809 RCV001418739
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=)	SNV Germline	Chr2:165919300	Conflicting classifications of pathogenicity	not specified Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA1942064	rs_145926679	5 SubmittersRCV000244055 RCV000265946 RCV000355902 RCV000537482 RCV001538305
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys)	SNV Germline	Chr2:165930299	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA1942274	rs_148866170	3 SubmittersRCV000250774 RCV001570982 RCV001854968
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)	SNV Germline	Chr2:165943222	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA1942411	rs_141664029	4 SubmittersRCV000249310 RCV000725867 RCV002058338
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)	SNV Germline	Chr3:132681932	Conflicting classifications of pathogenicity	not specified Nephronophthisis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA2621594	rs_113364886	5 SubmittersRCV000248210 RCV000542228 RCV001722363 RCV002294209
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)	SNV Germline	Chr3:132682798	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2621659	rs_146759786	5 SubmittersRCV000244060 RCV000729271 RCV001082788 RCV001147811 RCV001147812 RCV001149354
NM_153240.5(NPHP3):c.3570+9G>T	SNV Germline	Chr3:132684545	Conflicting classifications of pathogenicity	not specified Nephronophthisis Kidney disorder NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2621718	rs_112749193	6 SubmittersRCV000242754 RCV000537454 RCV002294207 RCV002500934
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)	SNV Germline	Chr3:132684624	Conflicting classifications of pathogenicity	not specified Nephronophthisis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA2621738	rs_111727307	5 SubmittersRCV000247835 RCV000524884 RCV001722361 RCV002294206
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)	SNV Germline	Chr3:132686337	Conflicting classifications of pathogenicity	not specified Nephronophthisis NPHP3-related Meckel-like syndrome Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2621792	rs_11915053	9 SubmittersRCV000243081 RCV000466608 RCV001147015 RCV001147014 RCV001147900 RCV001727662
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)	SNV Germline	Chr3:132688682	Conflicting classifications of pathogenicity	not specified Nephronophthisis Condition: not provided Kidney disorder NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2621845	rs_112300370	6 SubmittersRCV000242974 RCV000536392 RCV001722359 RCV002294204 RCV002500933
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)	SNV Germline	Chr3:132696748	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2622104	rs_558637226	5 SubmittersRCV000248754 RCV000726409 RCV001079754 RCV001775105
NM_153240.5(NPHP3):c.1887+6G>A	SNV Germline	Chr3:132699912	Conflicting classifications of pathogenicity	not specified Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2622186	rs_79113972	9 SubmittersRCV000251450 RCV000547153 RCV001147213 RCV001145265 RCV001147212 RCV001573072
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val)	SNV Germline	Chr3:132713217	Conflicting classifications of pathogenicity	not specified Nephronophthisis	Criteria Provided Conflicting Classifications	CA2622431	rs_372145755	2 SubmittersRCV000252767 RCV001038847
NM_153240.5(NPHP3):c.670+13C>T	SNV Germline	Chr3:132718981	Conflicting classifications of pathogenicity	not specified Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 NPHP3-related Meckel-like syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA2622544	rs_202228115	3 SubmittersRCV000254273 RCV000302792 RCV000357645 RCV000404961 RCV001414314
NM_153240.5(NPHP3):c.394-18C>G	SNV Germline	Chr3:132719848	Conflicting classifications of pathogenicity	not specified Nephronophthisis	Criteria Provided Conflicting Classifications	CA10586849	rs_886038737	2 SubmittersRCV000248491 RCV002518660
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)	SNV Germline	Chr3:132722167	Conflicting classifications of pathogenicity	not specified Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis NPHP3-related Meckel-like syndrome Condition: not provided Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2622688	rs_750280281	5 SubmittersRCV000243448 RCV000274517 RCV000309950 RCV000366849 RCV000723441 RCV001094846
NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	SNV Germline	Chr8:93755034	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA4807518	rs_767999682	5 SubmittersRCV000244178 RCV000274744 RCV000332073 RCV000388990 RCV000636980 RCV001727663
NM_153704.6(TMEM67):c.869+9A>G	SNV Germline	Chr8:93780756	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Nephronophthisis 11 Meckel syndrome, type 3 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA4807786	rs_372597584	5 SubmittersRCV000254485 RCV000304460 RCV000340533 RCV000405231 RCV000861716 RCV001727664
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)	SNV Germline	Chr8:93808848	Conflicting classifications of pathogenicity	not specified Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA10587012	rs_886038738	3 SubmittersRCV000247688 RCV000314366 RCV000344224 RCV000395284 RCV001455464
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)	SNV Germline	Chr8:93816416	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 6 Meckel syndrome, type 3 Nephronophthisis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA4808442	rs_115967793	4 SubmittersRCV000243894 RCV000549204 RCV001168637 RCV001168639 RCV001168638 RCV001651278
NM_014956.5(CEP164):c.1317+3G>A	SNV Germline	Chr11:117375794	Conflicting classifications of pathogenicity	not specified Nephronophthisis 15	Criteria Provided Conflicting Classifications	CA10587106	rs_886038607	2 SubmittersRCV000251628 RCV001217235
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000391752 RCV000514061 RCV001084053 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr12:88118525	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712494	rs_561018129	3 SubmittersRCV000249364 RCV001241555 RCV001195819
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001109701 RCV001109703 RCV001113718 RCV001113719 RCV001109702 RCV001572697 RCV001086907
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)	SNV Germline	Chr16:53611044	Conflicting classifications of pathogenicity	not specified Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA8057230	rs_138724933	8 SubmittersRCV000246270 RCV000296818 RCV000349270 RCV000399116 RCV000861085 RCV001271321 RCV001675738
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)	SNV Germline	Chr16:53619190	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA8057277	rs_886038619	3 SubmittersRCV000249264 RCV001115542 RCV001115540 RCV001115541 RCV001317646
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)	SNV Germline	Chr16:53622339	Conflicting classifications of pathogenicity	not specified Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA8057298	rs_568801926	7 SubmittersRCV000247114 RCV000281675 RCV000349836 RCV000374184 RCV001729495 RCV002058259
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)	SNV Germline	Chr16:53645650	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057506	rs_775153934	4 SubmittersRCV000291093 RCV000343656 RCV000397052 RCV001436236 RCV001279151 RCV004529441
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)	SNV Germline	Chr16:53671541	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA8057932	rs_147295026	6 SubmittersRCV000249002 RCV000636972 RCV001115910 RCV001115908 RCV001115909 RCV001701904
NM_025132.4(WDR19):c.2363+1G>A	SNV Germline	Chr4:39234876	Pathogenic/Likely pathogenic	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts	CA10602914	rs_886041912	3 SubmittersRCV000320568 RCV001234299 RCV002494812
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)	SNV Germline	Chr11:117411859	Conflicting classifications of pathogenicity	Nephronophthisis 15 Condition: not provided Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA6295761	rs_147398904	6 SubmittersRCV000689495 RCV000723949 RCV001074449 RCV002248506
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)	SNV Germline	Chr1:5947199	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA554665	rs_190940697	5 SubmittersRCV000357469 RCV000543369 RCV001100780 RCV001100781 RCV002294211 RCV003409400
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)	SNV Germline	Chr2:165907716	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA1941809	rs_766811699	4 SubmittersRCV000360722 RCV001134207 RCV001134208 RCV001859543 RCV002487181
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 not specified Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis Condition: not provided Kidney disorder Retinitis pigmentosa Stuve-Wiedemann syndrome 2	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000342452 RCV000320212 RCV000354111 RCV000396707 RCV000374721 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV001589313 RCV003319345
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	10 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV001380938
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)	SNV Germline	Chr3:132684630	Conflicting classifications of pathogenicity	Condition: not provided not specified Nephronophthisis Nephronophthisis 3 NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2621740	rs_138630766	5 SubmittersRCV000343363 RCV001553649 RCV001859546 RCV002494815 RCV003236581
NM_032575.3(GLIS2):c.1026C>T (p.Pro342=)	SNV Germline	Chr16:4336975	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA7873182	rs_753999588	2 SubmittersRCV000269490 RCV003103752
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)	SNV Germline	Chr16:53645635	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057502	rs_61742381	8 SubmittersRCV000270094 RCV000861403 RCV001118693 RCV001118695 RCV001118694 RCV001699420 RCV004535264
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)	SNV Germline	Chr1:5905380	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA554344	rs_35959882	4 SubmittersRCV000284712 RCV001087002 RCV004542995 RCV003165723
NM_025114.4(CEP290):c.181-2A>G	SNV Germline	Chr12:88139566	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA10604124	rs_886042359	3 SubmittersRCV000262913 RCV001859558 RCV003469222
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	SNV Germline	Chr12:88071833	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA10604125	rs_886042360	5 SubmittersRCV000593831 RCV001384490 RCV001199656 RCV003469223
NM_032575.3(GLIS2):c.693C>T (p.Asn231=)	SNV Germline	Chr16:4335311	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 7 Kidney disorder GLIS2-related disorder	Criteria Provided Conflicting Classifications	CA7873089	rs_150071733	5 SubmittersRCV000304669 RCV000327971 RCV001094420 RCV002294213 RCV003930063
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113144 RCV001113143 RCV001114512 RCV001114513 RCV001697702
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)	SNV Germline	Chr1:5864374	Conflicting classifications of pathogenicity	Nephronophthisis 4 Condition: not provided Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553411	rs_778306754	4 SubmittersRCV000315514 RCV000353114 RCV000353952 RCV001484563 RCV004543006
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)	SNV Germline	Chr12:88093839	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA10604281	rs_886042467	2 SubmittersRCV000316579 RCV001417740
NM_015272.5(RPGRIP1L):c.3616+7A>G	SNV Germline	Chr16:53619018	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057251	rs_373003699	6 SubmittersRCV000299256 RCV000725340 RCV001271322 RCV001088317 RCV001120151 RCV001120152 RCV001120153 RCV004543032
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)	SNV Germline	Chr16:53672937	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 5 Nephronophthisis 8 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5 Joubert syndrome 7 not specified RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057968	rs_183419371	9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV001117360 RCV002487213 RCV004017583 RCV004535307
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)	SNV Germline	Chr3:132719816	Conflicting classifications of pathogenicity	Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis NPHP3-related Meckel-like syndrome Condition: not provided Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2622609	rs_141410951	4 SubmittersRCV000269137 RCV000328897 RCV000364954 RCV000725432 RCV001094914
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)	SNV Germline	Chr1:5877103	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553929	rs_201074950	3 SubmittersRCV000398485 RCV001518477 RCV004535329
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)	SNV Germline	Chr1:5909210	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 4 Nephronophthisis 4 not specified Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases Nephronophthisis	Criteria Provided Conflicting Classifications	CA554499	rs_372565083	6 SubmittersRCV000343427 RCV000332355 RCV001093815 RCV003151009 RCV002487222 RCV002519168 RCV000277373
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)	SNV Germline	Chr11:117381729	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 15 CEP164-related disorder	Criteria Provided Conflicting Classifications	CA6294759	rs_112209873	3 SubmittersRCV000284554 RCV001087069 RCV003967743
NM_014425.5(INVS):c.2517G>A (p.Lys839=)	SNV Germline	Chr9:100292774	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA5158647	rs_147041710	2 SubmittersRCV000370911 RCV001088309
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	SNV Germline	Chr3:121828519	Pathogenic	Condition: not provided Leber congenital amaurosis Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA2567498	rs_201405662	7 SubmittersRCV000329866 RCV000504702 RCV001384418 RCV001535872
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)	SNV Germline	Chr8:93758539	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis 11 Meckel syndrome, type 3 not specified Joubert syndrome 6	Criteria Provided Conflicting Classifications	CA4807607	rs_115640152	6 SubmittersRCV000384341 RCV001087787 RCV001163029 RCV001163030 RCV001699422 RCV001163031
NM_014425.5(INVS):c.1107T>C (p.His369=)	SNV Germline	Chr9:100252311	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA5158330	rs_760637052	3 SubmittersRCV000284609 RCV001441613 RCV003967759
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=)	SNV Germline	Chr16:49638357	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA8046817	rs_201499268	3 SubmittersRCV000335887 RCV001085898
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)	SNV Germline	Chr1:5905324	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554339	rs_372430727	7 SubmittersRCV000308350 RCV000363050 RCV000400262 RCV001093812 RCV004543090
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_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)	SNV Germline	Chr16:53656489	Conflicting classifications of pathogenicity	Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis COACH syndrome 3 Meckel syndrome, type 5 Joubert syndrome 7 Familial aplasia of the vermis RPGRIP1L-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8057737	rs_147366111	8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV002487244 RCV001271332 RCV004529473 RCV004021214
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)	SNV Germline	Chr1:5864483	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553438	rs_61739637	3 SubmittersRCV000395711 RCV001080139 RCV004535377
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)	SNV Germline	Chr1:5887313	Conflicting classifications of pathogenicity	not specified Nephronophthisis Inborn genetic diseases NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554114	rs_200182705	4 SubmittersRCV000264657 RCV000868723 RCV003278741 RCV004543094
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	Criteria Provided Conflicting Classifications	CA1827170	rs_140469160	6 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)	SNV Germline	Chr1:5863403	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA553315	rs_766613810	2 SubmittersRCV000266655 RCV001500938
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=)	SNV Germline	Chr12:88058946	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711440	rs_751895513	2 SubmittersRCV000306500 RCV001460678
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)	SNV Germline	Chr1:5952710	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554739	rs_201124357	5 SubmittersRCV000296994 RCV000324865 RCV000377050 RCV001093864 RCV004535409
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)	SNV Germline	Chr3:132683433	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis not specified Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome	Criteria Provided Conflicting Classifications	CA2621683	rs_202048210	5 SubmittersRCV000356632 RCV001054416 RCV002282110 RCV002502143
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	SNV Germline	Chr2:110163104	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome with renal defect Nephronophthisis 1 Senior-Loken syndrome 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1827217	rs_114250691	5 SubmittersRCV000363080 RCV001084490 RCV000765499 RCV004535410
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)	SNV Germline	Chr2:110124038	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1826867	rs_201460699	4 SubmittersRCV000303839 RCV001067121 RCV004021253
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)	SNV Germline	Chr1:5874534	Conflicting classifications of pathogenicity	not specified Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA553773	rs_376351293	5 SubmittersRCV000307652 RCV000638102 RCV001100140 RCV001098357 RCV001726088
NM_015102.5(NPHP4):c.789C>T (p.His263=)	SNV Germline	Chr1:5952721	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA554741	rs_760440073	2 SubmittersRCV000291432 RCV002059247
NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val)	SNV Germline	Chr3:132708193	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2622376	rs_764000635	3 SubmittersRCV000347274 RCV001214608 RCV004535419
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)	SNV Germline	Chr1:5890913	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Condition: not provided Nephronophthisis Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554221	rs_199628481	4 SubmittersRCV000298397 RCV000296052 RCV000400933 RCV001093807 RCV004535429
NM_014425.5(INVS):c.1704G>A (p.Gly568=)	SNV Germline	Chr9:100272996	Conflicting classifications of pathogenicity	not specified Nephronophthisis Infantile nephronophthisis Kidney disorder	Criteria Provided Conflicting Classifications	CA5158468	rs_114645869	5 SubmittersRCV000272749 RCV000862161 RCV001166926 RCV002294219
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)	SNV Germline	Chr3:132689188	Conflicting classifications of pathogenicity	NPHP3-related Meckel-like syndrome not specified Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 Condition: not provided Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2621932	rs_116174472	7 SubmittersRCV000274968 RCV000303773 RCV000310058 RCV000364771 RCV000838628 RCV001094791
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)	SNV Germline	Chr16:53652877	Conflicting classifications of pathogenicity	Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057696	rs_143863631	8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000765294 RCV000726350 RCV001054615 RCV001833391 RCV002522007 RCV004543128
NM_014425.5(INVS):c.2454G>A (p.Ala818=)	SNV Germline	Chr9:100292711	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Infantile nephronophthisis	Criteria Provided Conflicting Classifications	CA5158633	rs_115937161	3 SubmittersRCV000298562 RCV001078716 RCV001169409
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)	SNV Germline	Chr1:5880206	Conflicting classifications of pathogenicity	not specified Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA554073	rs_147588666	6 SubmittersRCV000334924 RCV000861203 RCV001102311 RCV001102312 RCV001354108 RCV002518104
NM_178170.3(NEK8):c.294C>G (p.Ser98=)	SNV Germline	Chr17:28734812	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 9	Criteria Provided Conflicting Classifications	CA8467059	rs_140255077	4 SubmittersRCV000298045 RCV002059279
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)	SNV Germline	Chr12:88106824	Pathogenic	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10606630	rs_886044332	2 SubmittersRCV000268793 RCV001859707
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606
NM_015102.5(NPHP4):c.2964C>T (p.Ala988=)	SNV Germline	Chr1:5874954	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA553855	rs_373285520	2 SubmittersRCV000351809 RCV001448248
NM_014425.5(INVS):c.1784+8T>C	SNV Germline	Chr9:100273084	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA5158475	rs_781669059	2 SubmittersRCV000323843 RCV002059291
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)	SNV Germline	Chr1:5904618	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554264	rs_199912631	3 SubmittersRCV000349584 RCV000557261 RCV004543143
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)	SNV Germline	Chr1:5875016	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA553883	rs_375090704	4 SubmittersRCV000279729 RCV002059309
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)	SNV Germline	Chr1:5877257	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553978	rs_112206586	4 SubmittersRCV000284900 RCV000765251 RCV001086833 RCV004537620
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)	SNV Germline	Chr3:132682007	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2621607	rs_190548695	4 SubmittersRCV000338910 RCV000799611 RCV000764464 RCV004543152
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)	SNV Germline	Chr1:5874906	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553845	rs_185162256	3 SubmittersRCV000379083 RCV001409426 RCV004543153
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)	SNV Germline	Chr1:5874891	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA553843	rs_762202268	2 SubmittersRCV000272007 RCV000329409 RCV003748219
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=)	SNV Germline	Chr1:5947158	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA10610219	rs_562484051	2 SubmittersRCV000313161 RCV000365411 RCV001363261
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)	SNV Germline	Chr1:5865156	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA553478	rs_762953303	3 SubmittersRCV000287037 RCV000344394 RCV001850566 RCV002480081
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)	SNV Germline	Chr1:5865160	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided NPHP4-related disorder Nephronophthisis	Criteria Provided Conflicting Classifications	CA553479	rs_560944258	5 SubmittersRCV000290652 RCV000382692 RCV000729809 RCV004543176 RCV002059490
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)	SNV Germline	Chr1:5865213	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553494	rs_199925943	4 SubmittersRCV000312869 RCV000352075 RCV000595182 RCV001093796 RCV004543177
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)	SNV Germline	Chr2:110123893	Conflicting classifications of pathogenicity	Nephronophthisis Joubert syndrome with renal defect Senior-Loken syndrome 1 Condition: not provided Nephronophthisis 1 NPHP1-related disorder	Criteria Provided Conflicting Classifications	CA1826844	rs_200631256	4 SubmittersRCV000310472 RCV000365164 RCV000401330 RCV000730798 RCV001094594 RCV004544604
NM_015102.5(NPHP4):c.1047C>T (p.Val349=)	SNV Germline	Chr1:5947176	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554656	rs_560597983	3 SubmittersRCV000273284 RCV000307384 RCV001436222 RCV004537681
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	7 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605
NM_015102.5(NPHP4):c.6C>T (p.Asn2=)	SNV Germline	Chr1:5986284	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA554968	rs_371472576	2 SubmittersRCV000267615 RCV000301621 RCV001406447
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_024753.5(TTC21B):c.2100G>A (p.Lys700=)	SNV Germline	Chr2:165915239	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941940	rs_368202285	3 SubmittersRCV000289163 RCV000343584 RCV002057580 RCV004537840
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala)	SNV Germline	Chr2:165943290	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1942424	rs_568969576	3 SubmittersRCV000278829 RCV000336979 RCV001520464 RCV004537842
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)	SNV Germline	Chr1:5880168	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis not specified Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554063	rs_199875059	3 SubmittersRCV000330012 RCV000384597 RCV000593971 RCV001093852
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)	SNV Germline	Chr1:5890912	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA554220	rs_373962831	3 SubmittersRCV000283252 RCV000338114 RCV000592408 RCV001379795
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)	SNV Germline	Chr1:5927682	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Nephronophthisis Nephronophthisis 4 Senior-Loken syndrome 4 Inborn genetic diseases NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554528	rs_367686843	7 SubmittersRCV000289380 RCV000325654 RCV000592347 RCV001320330 RCV002494924 RCV004021448 RCV004544495
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)	SNV Germline	Chr1:5933253	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 not specified Condition: not provided Nephronophthisis Kidney disorder NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554598	rs_117898549	6 SubmittersRCV000340961 RCV000389927 RCV000523327 RCV000766889 RCV001257066 RCV002294254 RCV004537680
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)	SNV Germline	Chr1:5865195	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553489	rs_375485412	3 SubmittersRCV000347891 RCV000401689 RCV001481274 RCV004537676
NM_015102.5(NPHP4):c.3645-15C>T	SNV Germline	Chr1:5865288	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4 Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA553511	rs_558429618	4 SubmittersRCV000263212 RCV000355588 RCV001699291 RCV002059491
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)	SNV Germline	Chr1:5866405	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553535	rs_374003717	5 SubmittersRCV000302018 RCV000359177 RCV000595577 RCV001093845 RCV004543178
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)	SNV Germline	Chr1:5904645	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Nephronophthisis 4 Condition: not provided NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554270	rs_200848754	5 SubmittersRCV000324605 RCV000379250 RCV001093915 RCV001706444 RCV004543179
NM_015102.5(NPHP4):c.1764-5C>T	SNV Germline	Chr1:5905488	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis Condition: not provided Nephronophthisis 4 NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554372	rs_370899989	6 SubmittersRCV000264546 RCV000359321 RCV000595101 RCV001093860 RCV004537679
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)	SNV Germline	Chr1:5905727	Conflicting classifications of pathogenicity	Nephronophthisis Senior-Loken syndrome 4 Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554412	rs_753733095	2 SubmittersRCV000319687 RCV000355974 RCV001093919
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)	SNV Germline	Chr1:5909193	Conflicting classifications of pathogenicity	NPHP4-related disorder Condition: not provided Nephronophthisis Nephronophthisis 4	Criteria Provided Conflicting Classifications	CA554491	rs_778043242	4 SubmittersRCV000353231 RCV000728192 RCV001388046 RCV004577521
NM_015102.5(NPHP4):c.136-12G>C	SNV Germline	Chr1:5978425	Conflicting classifications of pathogenicity	Senior-Loken syndrome 4 Nephronophthisis 4 Nephronophthisis	Criteria Provided Conflicting Classifications	CA554920	rs_371432148	2 SubmittersRCV000347268 RCV000390158 RCV001454995
NM_015102.5(NPHP4):c.-90A>T	SNV Germline	Chr1:5992295	Conflicting classifications of pathogenicity	Nephronophthisis 4 Senior-Loken syndrome 4	Criteria Provided Conflicting Classifications	CA10611504	rs_527962872	1 SubmittersRCV000319568 RCV000371989
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)	SNV Germline	Chr2:165874792	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1941338	rs_147540469	4 SubmittersRCV000297705 RCV000407838 RCV000861564 RCV001812869 RCV003151031
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)	SNV Germline	Chr2:165899861	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA1941701	rs_747246700	3 SubmittersRCV000334319 RCV000372660 RCV001861133 RCV002480176
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	Criteria Provided Conflicting Classifications	CA1827219	rs_141763330	3 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)	SNV Germline	Chr2:165898741	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Conflicting Classifications	CA1941664	rs_146201603	2 SubmittersRCV000277941 RCV000330744 RCV000465241
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)	SNV Germline	Chr2:165907774	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis not specified Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1941818	rs_114725374	9 SubmittersRCV000310489 RCV000365262 RCV001477199 RCV001729542 RCV000842292 RCV002278508
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=)	SNV Germline	Chr2:165912577	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Conflicting Classifications	CA1941878	rs_570679271	2 SubmittersRCV000317496 RCV000371840 RCV002057579
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)	SNV Germline	Chr2:165912609	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis Condition: not provided TTC21B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1941888	rs_183367929	6 SubmittersRCV000263172 RCV000318231 RCV000634198 RCV000756833 RCV004537839 RCV002521311
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=)	SNV Germline	Chr2:165919372	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA1942076	rs_573290536	2 SubmittersRCV002521312 RCV000267097 RCV000326837
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)	SNV Germline	Chr2:165899823	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Condition: not provided Jeune thoracic dystrophy Nephronophthisis TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941692	rs_151227843	6 SubmittersRCV000281585 RCV000387559 RCV000756834 RCV001859969 RCV004537838
NM_024753.5(TTC21B):c.795+3A>G	SNV Germline	Chr2:165932970	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis TTC21B-related disorder Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA1942342	rs_753275145	4 SubmittersRCV000270836 RCV000360819 RCV001326971 RCV004537841 RCV002504118
NM_153240.5(NPHP3):c.*759G>A	SNV Germline	Chr3:132681151	Conflicting classifications of pathogenicity	Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10614893	rs_116338839	2 SubmittersRCV000305980 RCV000358492 RCV000397162 RCV001848695
NM_153240.5(NPHP3):c.2571-12C>G	SNV Germline	Chr3:132690662	Conflicting classifications of pathogenicity	Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA10614898	rs_886058003	2 SubmittersRCV000287092 RCV000322163 RCV000376889 RCV003765983
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)	SNV Germline	Chr3:132696733	Conflicting classifications of pathogenicity	NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 Nephronophthisis NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2622099	rs_563403703	3 SubmittersRCV000287621 RCV000342125 RCV000382755 RCV001437650 RCV004530386
NM_153240.5(NPHP3):c.384C>G (p.Ala128=)	SNV Germline	Chr3:132721972	Conflicting classifications of pathogenicity	NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2622649	rs_201425936	2 SubmittersRCV000275064 RCV000330099 RCV000389283 RCV001437603
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)	SNV Germline	Chr3:121770531	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2567043	rs_373762948	2 SubmittersRCV000353462 RCV002057823
NM_001023570.4(IQCB1):c.877-11C>T	SNV Germline	Chr3:121795577	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2567259	rs_192296154	2 SubmittersRCV000321425 RCV001510260
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)	SNV Germline	Chr3:121826096	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA2567463	rs_139299149	3 SubmittersRCV000395791 RCV002057826 RCV003957770
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)	SNV Germline	Chr3:132688790	Conflicting classifications of pathogenicity	NPHP3-related Meckel-like syndrome Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related disorder Nephronophthisis	Criteria Provided Conflicting Classifications	CA2621870	rs_777768843	3 SubmittersRCV000295957 RCV000332252 RCV000372926 RCV004530385 RCV002523243
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)	SNV Germline	Chr3:132699952	Conflicting classifications of pathogenicity	Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Condition: not provided Nephronophthisis 3 NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2622191	rs_139730838	6 SubmittersRCV000314328 RCV000348230 RCV000393177 RCV000592297 RCV001094838 RCV004530387
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)	SNV Germline	Chr3:132708204	Conflicting classifications of pathogenicity	Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Condition: not provided Nephronophthisis 3 Inborn genetic diseases not specified Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 NPHP3-related Meckel-like syndrome	Criteria Provided Conflicting Classifications	CA2622379	rs_138982161	6 SubmittersRCV000291650 RCV000346668 RCV000381270 RCV000728292 RCV001094792 RCV002520084 RCV003151038 RCV002487509
NM_153240.5(NPHP3):c.208C>T (p.Leu70=)	SNV Germline	Chr3:132722148	Conflicting classifications of pathogenicity	Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA2622684	rs_765533675	3 SubmittersRCV000306487 RCV000363467 RCV000395057 RCV000731166 RCV001494697
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)	SNV Germline	Chr3:121781809	Conflicting classifications of pathogenicity	Renal dysplasia and retinal aplasia Nephronophthisis	Criteria Provided Conflicting Classifications	CA10616889	rs_886057824	2 SubmittersRCV000273684 RCV000874835
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)	SNV Germline	Chr3:121799248	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA10616894	rs_886057828	2 SubmittersRCV000341381 RCV002523238
NM_001023570.4(IQCB1):c.1129+13A>G	SNV Germline	Chr3:121790060	Conflicting classifications of pathogenicity	Senior-Loken syndrome 5 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2567196	rs_371443898	2 SubmittersRCV000271044 RCV002057824
NM_153240.5(NPHP3):c.*1020T>C	SNV Germline	Chr3:132680890	Conflicting classifications of pathogenicity	Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA10617278	rs_186828918	1 SubmittersRCV000290084 RCV000328805 RCV000377564
NM_153240.5(NPHP3):c.*1176G>A	SNV Germline	Chr3:132680734	Conflicting classifications of pathogenicity	Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome	Criteria Provided Conflicting Classifications	CA10617378	rs_183658380	1 SubmittersRCV000314834 RCV000345128 RCV000396712
NM_153240.5(NPHP3):c.*815G>A	SNV Germline	Chr3:132681095	Conflicting classifications of pathogenicity	NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10617381	rs_141464909	2 SubmittersRCV000295240 RCV000352473 RCV000381051 RCV001797083
NM_153240.5(NPHP3):c.3570+4A>G	SNV Germline	Chr3:132684550	Conflicting classifications of pathogenicity	Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA2621719	rs_374989123	4 SubmittersRCV000287561 RCV000328498 RCV000383968 RCV000593165 RCV001319951
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)	SNV Germline	Chr3:132688766	Conflicting classifications of pathogenicity	Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Nephronophthisis	Criteria Provided Conflicting Classifications	CA2621863	rs_372990521	2 SubmittersRCV000271744 RCV000331605 RCV000386084 RCV003114502
NM_153240.5(NPHP3):c.2884-4C>G	SNV Germline	Chr3:132688895	Conflicting classifications of pathogenicity	Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Condition: not provided Nephronophthisis 3	Criteria Provided Conflicting Classifications	CA2621885	rs_185913426	3 SubmittersRCV000278177 RCV000337886 RCV000404291 RCV000596197 RCV001094910
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	SNV Germline	Chr4:39216209	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Nephronophthisis 13 Cranioectodermal dysplasia 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2891800	rs_772867899	4 SubmittersRCV000298705 RCV000400723 RCV001850849 RCV002480216 RCV004021962
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)	SNV Germline	Chr8:93816392	Conflicting classifications of pathogenicity	Joubert syndrome 6 Nephronophthisis 11 Meckel syndrome, type 3 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA4808435	rs_369812327	2 SubmittersRCV000293650 RCV000390789 RCV000348602 RCV002058749
NM_014425.5(INVS):c.1317C>T (p.Cys439=)	SNV Germline	Chr9:100252989	Conflicting classifications of pathogenicity	Nephronophthisis	Criteria Provided Conflicting Classifications	CA10626029	rs_886063266	2 SubmittersRCV000369470
NM_014425.5(INVS):c.3027C>T (p.His1009=)	SNV Germline	Chr9:100297946	Conflicting classifications of pathogenicity	Nephronophthisis not specified Infantile nephronophthisis Kidney disorder	Criteria Provided Conflicting Classifications	CA5158771	rs_201136636	4 SubmittersRCV000407399 RCV000732192 RCV001095312 RCV002294324
NM_014425.5(INVS):c.2001C>T (p.Gly667=)	SNV Germline	Chr9:100284536	Conflicting classifications of pathogenicity	Infantile nephronophthisis Nephronophthisis	Criteria Provided Conflicting Classifications	CA5158526	rs_536554704	2 SubmittersRCV000291572 RCV003748224
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)	SNV Germline	Chr8:93787877	Conflicting classifications of pathogenicity	Nephronophthisis 11 Meckel syndrome, type 3 Joubert syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA4807976	rs_774288177	2 SubmittersRCV000270206 RCV000306665 RCV000370373 RCV000872573
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)	SNV Germline	Chr8:93787942	Conflicting classifications of pathogenicity	Meckel syndrome, type 3 Joubert syndrome 6 Nephronophthisis 11 Familial aplasia of the vermis Meckel-Gruber syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4807990	rs_114655330	3 SubmittersRCV000275749 RCV000330820 RCV000366747 RCV002058748 RCV002523705
NM_014425.5(INVS):c.118C>G (p.Leu40Val)	SNV Germline	Chr9:100126394	Conflicting classifications of pathogenicity	Infantile nephronophthisis Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA5158084	rs_148219510	4 SubmittersRCV000399541 RCV000734866 RCV001448682 RCV003912559
NM_014425.5(INVS):c.775C>T (p.Leu259=)	SNV Germline	Chr9:100240219	Conflicting classifications of pathogenicity	Infantile nephronophthisis Nephronophthisis	Criteria Provided Conflicting Classifications	CA10631902	rs_886063264	2 SubmittersRCV000393626 RCV001425550
NM_014425.5(INVS):c.3099C>T (p.Asn1033=)	SNV Germline	Chr9:100300575	Conflicting classifications of pathogenicity	Infantile nephronophthisis Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA5158820	rs_368303175	3 SubmittersRCV000362388 RCV001424635 RCV003970069
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Kidney disorder Leber congenital amaurosis Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV002294263 RCV001273074 RCV003888722 RCV004537751
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000299546 RCV000335728 RCV000398619 RCV000305920 RCV000728042 RCV001079199 RCV000360538
NM_032575.3(GLIS2):c.1569G>A (p.Val523=)	SNV Germline	Chr16:4337518	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 7	Criteria Provided Conflicting Classifications	CA7873298	rs_371022001	2 SubmittersRCV000331586 RCV001094358
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)	SNV Germline	Chr16:53602142	Conflicting classifications of pathogenicity	Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057127	rs_759935029	4 SubmittersRCV000260137 RCV000324659 RCV000379320 RCV000996270 RCV001413863 RCV004544574
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)	SNV Germline	Chr16:53645743	Conflicting classifications of pathogenicity	Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA10637956	rs_886052096	2 SubmittersRCV000313265 RCV000371312 RCV000401665 RCV002056498
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000283328 RCV000322071 RCV000270876 RCV000380635 RCV000729391 RCV000323734 RCV001409432
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	3 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000272452 RCV000321121 RCV000324529 RCV000267083 RCV000378166 RCV001513375
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Condition: not provided Microcephaly Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	6 SubmittersRCV000310425 RCV000307295 RCV000365084 RCV000371328 RCV000400672 RCV001562789 RCV001252733 RCV000861492 RCV002467728 RCV003888723
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000325527 RCV000382505 RCV000386249 RCV001421212 RCV000352716
NM_178170.3(NEK8):c.582C>T (p.Tyr194=)	SNV Germline	Chr17:28735335	Conflicting classifications of pathogenicity	Nephronophthisis 9	Criteria Provided Conflicting Classifications	CA8467116	rs_201773965	2 SubmittersRCV000342342
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 not specified Leber congenital amaurosis Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	4 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001273072 RCV001347081
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	SNV Germline	Chr12:88089271	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Retinal dystrophy Condition: not provided Leber congenital amaurosis Inborn genetic diseases Retinitis pigmentosa CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	10 SubmittersRCV000276434 RCV000289191 RCV000333827 RCV000327895 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV002520840 RCV001590930 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV002461069 RCV000860718 RCV001833458 RCV002467729
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	SNV Germline	Chr12:88086400	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000272744 RCV000287480 RCV000376587 RCV000382304 RCV000981128 RCV000327713
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Retinitis pigmentosa Leber congenital amaurosis not specified Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	7 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752
NM_032575.3(GLIS2):c.291G>A (p.Ser97=)	SNV Germline	Chr16:4333465	Conflicting classifications of pathogenicity	Nephronophthisis 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA7872959	rs_529581775	2 SubmittersRCV000267112 RCV000866169
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=)	SNV Germline	Chr16:4337077	Conflicting classifications of pathogenicity	Nephronophthisis 7 Nephronophthisis	Criteria Provided Conflicting Classifications	CA7873201	rs_750906253	2 SubmittersRCV000397109 RCV002522847
NM_032575.3(GLIS2):c.1326C>T (p.Ala442=)	SNV Germline	Chr16:4337275	Conflicting classifications of pathogenicity	Nephronophthisis 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA7873238	rs_767819594	2 SubmittersRCV000305135 RCV000866574
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)	SNV Germline	Chr16:53602185	Conflicting classifications of pathogenicity	Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3 Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8057138	rs_377402117	5 SubmittersRCV000284914 RCV000321256 RCV000385189 RCV002504091 RCV000820913 RCV001276306 RCV003278765
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)	SNV Germline	Chr16:53637736	Conflicting classifications of pathogenicity	Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8057349	rs_371616177	2 SubmittersRCV000304399 RCV000334324 RCV000400874 RCV004021662
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)	SNV Germline	Chr16:53692151	Conflicting classifications of pathogenicity	Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis RPGRIP1L-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8058122	rs_202149647	5 SubmittersRCV000260324 RCV000320204 RCV000374585 RCV000867235 RCV001273899 RCV004537803 RCV003992277
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)	SNV Germline	Chr16:53692292	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA8058137	rs_182207372	3 SubmittersRCV000285017 RCV000339982 RCV000380550 RCV000867344 RCV001273900
NM_178170.3(NEK8):c.618+12C>T	SNV Germline	Chr17:28735383	Conflicting classifications of pathogenicity	Nephronophthisis 9	Criteria Provided Conflicting Classifications	CA8467123	rs_11649957	2 SubmittersRCV000389932
NM_032575.3(GLIS2):c.651C>T (p.Asn217=)	SNV Germline	Chr16:4335188	Conflicting classifications of pathogenicity	Nephronophthisis 7 GLIS2-related disorder	Criteria Provided Conflicting Classifications	CA7873062	rs_140609747	2 SubmittersRCV000272859 RCV003969900
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=)	SNV Germline	Chr16:4337380	Conflicting classifications of pathogenicity	Nephronophthisis Nephronophthisis 7	Criteria Provided Conflicting Classifications	CA7873264	rs_150810544	2 SubmittersRCV000325713 RCV001094301
NM_015272.5(RPGRIP1L):c.*1584G>T	SNV Germline	Chr16:53600492	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA10647702	rs_151226475	2 SubmittersRCV000260902 RCV000316080 RCV000379947 RCV003422270
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)	SNV Germline	Chr16:53652727	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Nephronophthisis 8 Joubert syndrome 7 Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA8057665	rs_141979202	3 SubmittersRCV000300536 RCV000352999 RCV000402360 RCV000467631 RCV001271328
NM_015272.5(RPGRIP1L):c.*1627G>A	SNV Germline	Chr16:53600449	Conflicting classifications of pathogenicity	Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10648543	rs_188203905	2 SubmittersRCV000273866 RCV000300937 RCV000355217 RCV003422269
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)	SNV Germline	Chr16:53645626	Conflicting classifications of pathogenicity	Nephronophthisis 8 Joubert syndrome 7 Meckel syndrome, type 5 Meckel-Gruber syndrome Familial aplasia of the vermis Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA8057500	rs_141608712	7 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV001243917 RCV001271326 RCV000996271
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)	SNV Germline	Chr16:53671528	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Joubert syndrome 7 Nephronophthisis 8 Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 3 Inborn genetic diseases RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057930	rs_144023021	6 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001828320 RCV001239253 RCV002487410 RCV004021665 RCV004537802
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)	SNV Germline	Chr16:53692344	Conflicting classifications of pathogenicity	Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Meckel syndrome, type 5 COACH syndrome 1 Joubert syndrome 7 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8058159	rs_151212590	7 SubmittersRCV000310412 RCV000346684 RCV000398312 RCV000765298 RCV000464407 RCV001562186 RCV001828321 RCV004537804
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)	SNV Germline	Chr16:53696210	Conflicting classifications of pathogenicity	Joubert syndrome 7 Meckel syndrome, type 5 Nephronophthisis 8 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis	Criteria Provided Conflicting Classifications	CA8058197	rs_146925098	6 SubmittersRCV000262935 RCV000298218 RCV000353091 RCV000489212 RCV001081628
NM_178170.3(NEK8):c.1251C>T (p.Ser417=)	SNV Germline	Chr17:28738699	Conflicting classifications of pathogenicity	Nephronophthisis 9	Criteria Provided Conflicting Classifications	CA8467366	rs_149239987	2 SubmittersRCV000313424
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)	SNV Germline	Chr17:28741418	Conflicting classifications of pathogenicity	Nephronophthisis 9 Condition: not provided NEK8-related disorder	Criteria Provided Conflicting Classifications	CA8467584	rs_201548032	4 SubmittersRCV000319909 RCV001660663 RCV003940269
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)	SNV Germline	Chr22:40886441	Conflicting classifications of pathogenicity	Nephronophthisis-like nephropathy 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10251702	rs_137859412	3 SubmittersRCV000279640 RCV000863147
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)	SNV Germline	Chr22:40922465	Conflicting classifications of pathogenicity	Nephronophthisis-like nephropathy 1	Criteria Provided Conflicting Classifications	CA10251881	rs_146309087	2 SubmittersRCV000346042
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	SNV Germline	Chr12:88131209	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712782	rs_757641323	7 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)	SNV Germline	Chr16:1562008	Conflicting classifications of pathogenicity	Condition: not provided Saldino-Mainzer syndrome Nephronophthisis not specified	Criteria Provided Conflicting Classifications	CA16042927	rs_1057518064	4 SubmittersRCV000413732 RCV001042480 RCV001328310 RCV002298581
NM_025114.4(CEP290):c.3104-2A>G	SNV Germline	Chr12:88093977	Pathogenic/Likely pathogenic	6 conditions Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA6712210	rs_773386777	3 SubmittersRCV000415418 RCV003470370 RCV003766166
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	SNV Germline	Chr12:88102888	Pathogenic/Likely pathogenic	Central hypotonia Molar tooth sign on MRI Nystagmus Blindness Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA16043473	rs_1057518822	3 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364
NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)	SNV Germline	Chr15:41812609	Pathogenic	Nephronophthisis 20	No Assertion Criteria Provided	CA16043972	rs_1057519303	1 SubmittersRCV000415517
NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter)	SNV Germline	Chr15:41825284	Pathogenic	Nephronophthisis 20	No Assertion Criteria Provided	CA16043973	rs_1057519304	1 SubmittersRCV000415560
NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)	SNV Germline	Chr15:41815388	Pathogenic	Nephronophthisis 20	No Assertion Criteria Provided	CA7497796	rs_202001274	1 SubmittersRCV000415593
NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)	SNV Germline	Chr15:41816937	Pathogenic	Nephronophthisis 20	No Assertion Criteria Provided	CA16043974	rs_1057519305	1 SubmittersRCV000415534
NM_014994.3(MAPKBP1):c.2426-1G>A	SNV Germline	Chr15:41819594	Pathogenic	Nephronophthisis 20	No Assertion Criteria Provided	CA16043975	rs_1057519306	1 SubmittersRCV000415552
NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)	SNV Germline	Chr15:41821674	Pathogenic	Nephronophthisis 20	No Assertion Criteria Provided	CA16043976	rs_752616462	1 SubmittersRCV000415598
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability Joubert syndrome 5 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	7 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV001109866 RCV001109867 RCV004530521
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV000417476 RCV000765111 RCV001245037 RCV001276484 RCV003889881
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro)	SNV Germline	Chr3:132684702	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Fibrotic kidney disease	Criteria Provided Conflicting Classifications	CA16604473	rs_1057521090	3 SubmittersRCV000434888 RCV001318647 RCV003325954
NM_153240.5(NPHP3):c.520-10C>G	SNV Germline	Chr3:132719154	Conflicting classifications of pathogenicity	Nephronophthisis NPHP3-related Meckel-like syndrome Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2622568	rs_200144727	3 SubmittersRCV000457439 RCV001148217 RCV001148216 RCV001148218 RCV001703569
NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)	SNV Germline	Chr9:98736542	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 16	Criteria Provided Conflicting Classifications	CA5153094	rs_199851177	2 SubmittersRCV000438519 RCV001079474
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)	SNV Germline	Chr12:88068525	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711569	rs_765002773	5 SubmittersRCV000421065 RCV000726726 RCV001083326 RCV001828431 RCV004533083
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly)	SNV Germline	Chr12:94367816	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 18	Criteria Provided Conflicting Classifications	CA6721683	rs_577668407	2 SubmittersRCV000417742 RCV001034799
NM_025114.4(CEP290):c.1360-4T>G	SNV Germline	Chr12:88120280	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886
NM_015272.5(RPGRIP1L):c.3220+13T>C	SNV Germline	Chr16:53637682	Conflicting classifications of pathogenicity	not specified Joubert syndrome 7 Nephronophthisis 8 Meckel syndrome, type 5 Meckel-Gruber syndrome Familial aplasia of the vermis RPGRIP1L-related disorder	Criteria Provided Conflicting Classifications	CA8057344	rs_376659273	4 SubmittersRCV000438977 RCV001120235 RCV001120236 RCV001120237 RCV002522503 RCV004533096
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)	SNV Germline	Chr12:88111728	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712388	rs_752513342	3 SubmittersRCV000436721 RCV001242972 RCV004532991
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)	SNV Germline	Chr12:94368132	Conflicting classifications of pathogenicity	Nephronophthisis 18 Condition: not provided Ciliopathy	Criteria Provided Conflicting Classifications	CA6721749	rs_200971081	3 SubmittersRCV001035539 RCV000434526 RCV003983042
NM_001379286.1(ZNF423):c.3394G>A (p.Glu1132Lys)	SNV Germline	Chr16:49635782	Conflicting classifications of pathogenicity	Abnormal brain morphology Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA8046307	rs_548986682	2 SubmittersRCV000454164 RCV001232846
NM_001379286.1(ZNF423):c.290G>A (p.Arg97His)	SNV Germline	Chr16:49730782	Conflicting classifications of pathogenicity	Abnormal brain morphology Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA8046921	rs_745597535	2 SubmittersRCV000454256 RCV001865411
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser)	SNV Germline	Chr9:100284478	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Infantile nephronophthisis	Criteria Provided Conflicting Classifications	CA5158513	rs_116686341	3 SubmittersRCV000595240 RCV001088024 RCV001166927
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	SNV Germline	Chr6:24278081	Pathogenic	Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 Isolated neonatal sclerosing cholangitis	Criteria Provided Multiple Submitters No Conflicts	CA136634449	rs_1050411259	3 SubmittersRCV000477711 RCV002525737 RCV002475927
NM_024753.5(TTC21B):c.553-2A>G	SNV Germline	Chr2:165941186	Likely pathogenic	Condition: not provided Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA1942393	rs_773580610	2 SubmittersRCV000479541 RCV001377359
NM_014956.5(CEP164):c.380C>A (p.Pro127His)	SNV Germline	Chr11:117351975	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 15 CEP164-related disorder	Criteria Provided Conflicting Classifications	CA6294412	rs_143659874	7 SubmittersRCV000485423 RCV001089408 RCV003915334
NM_025114.4(CEP290):c.4705-1G>T	SNV Germline	Chr12:88083955	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711875	rs_777464278	5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588
NM_025114.4(CEP290):c.3461+1G>A	SNV Germline	Chr12:88092680	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA16619601	rs_766952056	2 SubmittersRCV000485299 RCV001070331
NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)	SNV Germline	Chr16:49635709	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 14	Criteria Provided Conflicting Classifications	CA8046294	rs_756742718	2 SubmittersRCV000488930 RCV000650250
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_153240.5(NPHP3):c.424C>T (p.Arg142Ter)	SNV Germline	Chr3:132719800	Pathogenic	Nephronophthisis 3 Nephronophthisis	Criteria Provided Single Submitter	CA2622608	rs_771742823	2 SubmittersRCV000579387 RCV002527119
NM_025114.4(CEP290):c.4813-2A>G	SNV Germline	Chr12:88083232	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Retinal dystrophy Leber congenital amaurosis Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711850	rs_369523378	11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071
NM_025114.4(CEP290):c.1066-1G>A	SNV Germline	Chr12:88125370	Pathogenic	not specified Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA241154824	rs_965522059	4 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)	SNV Germline	Chr4:39268041	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Conflicting Classifications	CA2892335	rs_567310076	3 SubmittersRCV001227801 RCV001811019 RCV002481645
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	SNV Germline	Chr2:165907746	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Nephronophthisis Jeune thoracic dystrophy TTC21B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1941813	rs_79746977	5 SubmittersRCV000515936 RCV003151077 RCV002525013 RCV004541600
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)	SNV Germline	Chr3:121772566	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 5 Nephronophthisis IQCB1-related disorder	Criteria Provided Conflicting Classifications	CA2567069	rs_779858591	5 SubmittersRCV000521100 RCV001331479 RCV001851495 RCV003935382
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)	SNV Germline	Chr3:132713162	Conflicting classifications of pathogenicity	Condition: not provided Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 NPHP3-related Meckel-like syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA2622426	rs_146250226	4 SubmittersRCV000731009 RCV000764466 RCV001086831
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	SNV Germline	Chr12:88114557	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385977034	rs_1555220625	6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660
NM_025114.4(CEP290):c.1190-2A>G	SNV Germline	Chr12:88121168	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712608	rs_200818935	3 SubmittersRCV000523813 RCV001378303 RCV003470653
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)	SNV Germline	Chr2:165912581	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Inborn genetic diseases TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941882	rs_148222901	5 SubmittersRCV000534023 RCV001336665 RCV002483379 RCV002527695 RCV004541651
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)	SNV Germline	Chr2:165912578	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Meckel-Gruber-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1941879	rs_539769126	5 SubmittersRCV000550901 RCV001128710 RCV001128711 RCV001258267 RCV001572659
NM_153240.5(NPHP3):c.621A>G (p.Val207=)	SNV Germline	Chr3:132719043	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2622552	rs_139693694	3 SubmittersRCV000556132 RCV000592903 RCV004537953
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter)	SNV Germline	Chr3:132722296	Pathogenic	Nephronophthisis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354590113	rs_773521620	2 SubmittersRCV000539283 RCV001783046
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu)	SNV Germline	Chr3:132719794	Conflicting classifications of pathogenicity	Nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA2622607	rs_745342273	2 SubmittersRCV000554828 RCV002266984
NM_153240.5(NPHP3):c.1985+1G>A	SNV Germline	Chr3:132699352	Pathogenic/Likely pathogenic	Nephronophthisis NPHP3-related Meckel-like syndrome Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3	Criteria Provided Multiple Submitters No Conflicts	CA354582360	rs_1553773271	2 SubmittersRCV000558855 RCV002497109
NM_153240.5(NPHP3):c.255G>A (p.Glu85=)	SNV Germline	Chr3:132722101	Conflicting classifications of pathogenicity	Nephronophthisis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2622674	rs_146839563	3 SubmittersRCV000542817 RCV000611134 RCV000732995
NM_173551.5(ANKS6):c.193G>T (p.Val65Phe)	SNV Germline	Chr9:98796299	Conflicting classifications of pathogenicity	Nephronophthisis 16 ANKS6-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5153886	rs_745881769	3 SubmittersRCV000532271 RCV003935514 RCV004024281
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)	SNV Germline	Chr9:98736571	Conflicting classifications of pathogenicity	Nephronophthisis 16 Condition: not provided ANKS6-related disorder	Criteria Provided Conflicting Classifications	CA5153099	rs_200644058	3 SubmittersRCV000558181 RCV002263795 RCV003945307
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)	SNV Germline	Chr9:98790434	Conflicting classifications of pathogenicity	Nephronophthisis 16 Inborn genetic diseases Condition: not provided ANKS6-related disorder	Criteria Provided Conflicting Classifications	CA5153820	rs_181546859	4 SubmittersRCV000551531 RCV002526699 RCV003480687 RCV003925693
NM_025114.4(CEP290):c.6358-1G>A	SNV Germline	Chr12:88060995	Likely pathogenic	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711506	rs_766670248	4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)	SNV Germline	Chr12:88080196	Pathogenic	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385990901	rs_1555205328	1 SubmittersRCV000525824
NM_025114.4(CEP290):c.384T>C (p.Asp128=)	SNV Germline	Chr12:88136700	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712816	rs_76267039	4 SubmittersRCV001110659 RCV001110660 RCV001112628 RCV001821528 RCV000550067 RCV001112627 RCV001112629 RCV003889921
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	SNV Germline	Chr12:88060960	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6711500	rs_184323010	4 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)	SNV Germline	Chr12:88120162	Pathogenic	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Single Submitter	CA385979851	rs_1278679056	1 SubmittersRCV000540957
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)	SNV Germline	Chr12:88121157	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712602	rs_773578133	3 SubmittersRCV000526103 RCV000839270 RCV004537946
NM_025114.4(CEP290):c.943-8A>T	SNV Germline	Chr12:88126446	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712652	rs_200729812	4 SubmittersRCV000595738 RCV001083503
NM_025114.4(CEP290):c.180+1G>A	SNV Germline	Chr12:88140955	Pathogenic/Likely pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Condition: not provided Meckel syndrome, type 4 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA6712897	rs_758593134	7 SubmittersRCV000542843 RCV000787558 RCV001199655 RCV001091342 RCV002289749 RCV002497107
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)	SNV Germline	Chr12:88118485	Pathogenic	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA385978708	rs_1272411609	3 SubmittersRCV000579059 RCV002530367 RCV003459415
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)	SNV Germline	Chr17:28734897	Pathogenic	Renal-hepatic-pancreatic dysplasia 2 Nephronophthisis 9 Nephronophthisis 9 Renal-hepatic-pancreatic dysplasia 2	Criteria Provided Multiple Submitters No Conflicts	CA398424780	rs_752792782	3 SubmittersRCV000583490 RCV002530757 RCV002497226
NM_014425.5(INVS):c.2313T>C (p.Asp771=)	SNV Germline	Chr9:100292570	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis INVS-related disorder	Criteria Provided Conflicting Classifications	CA5158596	rs_147112151	3 SubmittersRCV000591504 RCV001089072 RCV003952938
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)	SNV Germline	Chr9:100292643	Conflicting classifications of pathogenicity	Condition: not provided Infantile nephronophthisis Nephronophthisis INVS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5158616	rs_147731667	5 SubmittersRCV000594073 RCV000766037 RCV001242893 RCV003962658 RCV004024696
NM_015102.5(NPHP4):c.3309C>T (p.His1103=)	SNV Germline	Chr1:5873258	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553711	rs_200320780	4 SubmittersRCV000591941 RCV001484122 RCV004543317
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)	SNV Germline	Chr3:132684788	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2621763	rs_188431787	3 SubmittersRCV000594676 RCV001436666 RCV004530663
NM_025114.4(CEP290):c.5012+2T>C	SNV Germline	Chr12:88083029	Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA385992634	rs_1369768287	6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003465334 RCV003485612
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)	SNV Germline	Chr1:5978411	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA554918	rs_201069164	3 SubmittersRCV000597538 RCV001084148 RCV004530665
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)	SNV Germline	Chr1:5874978	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis NPHP4-related disorder	Criteria Provided Conflicting Classifications	CA553867	rs_146948888	4 SubmittersRCV000596771 RCV001088166 RCV004543328
NM_014425.5(INVS):c.33T>C (p.Gly11=)	SNV Germline	Chr9:100104554	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis	Criteria Provided Conflicting Classifications	CA466552392	rs_1554713054	2 SubmittersRCV000595292 RCV002065145
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)	SNV Germline	Chr3:132688712	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 Nephronophthisis 3 NPHP3-related Meckel-like syndrome NPHP3-related disorder	Criteria Provided Conflicting Classifications	CA2621852	rs_769832219	4 SubmittersRCV000598039 RCV001294980 RCV002483585 RCV004530666

NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys)

SNV
Germline

Chr22:40924482

Pathogenic

Nephronophthisis-like nephropathy 1

No Assertion Criteria Provided

CA113823

rs_267607179

1 SubmittersRCV000000068

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Retinitis pigmentosa
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Retinal dystrophy
Meckel syndrome, type 6
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273

NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)

SNV
Germline

Chr12:88141287

Pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA227962

rs_62635288

6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540

NM_025114.4(CEP290):c.2991+1655A>G

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 1
Retinitis pigmentosa
Joubert syndrome 5
Retinal dystrophy
Intellectual disability
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

24 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000763315 RCV000988884 RCV000678535 RCV001196010 RCV001075828 RCV001255341 RCV001731267 RCV001831503 RCV003460403

NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)

SNV
Germline

Chr12:88111320

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA339890

rs_137852833

3 SubmittersRCV000001401 RCV001851541 RCV003466777

NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)

SNV
Germline

Chr12:88083936

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis 10
Blindness
Central hypotonia
Nystagmus
Molar tooth sign on MRI
Condition: not provided
not specified
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinal dystrophy
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

19 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001002715 RCV001046610 RCV001075829 RCV003155008 RCV001831504 RCV003466778 RCV003492281

NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr12:88130324

Pathogenic

Meckel syndrome, type 4
Severe hydrocephalus
Polycystic kidney disease
Encephalocele
Leber congenital amaurosis
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

9 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001376372 RCV002496228 RCV001042869 RCV001781163 RCV003466779 RCV003887847

NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)

SNV
Germline

Chr8:93780962

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14, modifier of
Nephronophthisis
Condition: not provided
Joubert syndrome 6
RHYNS syndrome
Meckel syndrome, type 3
Nephronophthisis 11
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
not specified
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

14 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001158405 RCV001158406 RCV001085857 RCV001333012 RCV003488318 RCV004528064

NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)

SNV
Germline

Chr8:93808861

Pathogenic

Nephronophthisis 11
Joubert syndrome 6

Criteria Provided
Single Submitter

CA114973

rs_267607116

2 SubmittersRCV000001450 RCV000587331

NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)

SNV
Germline

Chr8:93795970

Pathogenic/Likely pathogenic

Joubert syndrome 6
Nephronophthisis 11
Nephronophthisis
TMEM67-related disorder
Renal cyst
Oligohydramnios
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases
14 conditions
Bardet-Biedl syndrome 14
Nephronophthisis 11
Joubert syndrome 6
COACH syndrome 1
Meckel syndrome, type 3
RHYNS syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

14 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000415055 RCV000534533 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497

NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu)

SNV
Germline

Chr8:93780747

Pathogenic

Nephronophthisis 11

No Assertion Criteria Provided

CA114981

rs_267607117

1 SubmittersRCV000001453

NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)

SNV
Germline

Chr8:93808861

Pathogenic

Joubert syndrome 6
Nephronophthisis 11

No Assertion Criteria Provided

CA114985

rs_267607116

1 SubmittersRCV000001455 RCV000001454

NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)

SNV
Germline

Chr8:93780633

Pathogenic

Joubert syndrome 6
Nephronophthisis
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA251773

rs_202149403

11 SubmittersRCV000001457 RCV000234813 RCV000418247 RCV001389251 RCV002490292

NM_178170.3(NEK8):c.1273C>T (p.His425Tyr)

SNV
Germline

Chr17:28738721

Pathogenic

Nephronophthisis 9

No Assertion Criteria Provided

CA115024

rs_118204032

1 SubmittersRCV000001553

NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)

SNV
Germline

Chr3:121781772

Pathogenic

Senior-Loken syndrome 5
Nephronophthisis
Condition: not provided
Renal dysplasia and retinal aplasia
Retinal dystrophy
Inborn genetic diseases
IQCB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115214

rs_121918244

12 SubmittersRCV000001904 RCV000230781 RCV000681897 RCV001003059 RCV000505099 RCV003362658 RCV003398416

NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr)

SNV
Germline

Chr3:132713165

Pathogenic

Nephronophthisis 3

No Assertion Criteria Provided

CA115652

rs_119456960

1 SubmittersRCV000002751

NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)

SNV
Germline

Chr3:132704341

Pathogenic

Nephronophthisis 3
Condition: not provided
Nephronophthisis
NPHP3-related Meckel-like syndrome
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA115653

rs_119456961

6 SubmittersRCV000002752 RCV000681680 RCV001389821 RCV001197494 RCV002496236

NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)

SNV
Germline

Chr3:132700348

Pathogenic

NPHP3-related Meckel-like syndrome
Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA115655

rs_119456962

3 SubmittersRCV000002755 RCV000174180 RCV001239221

NM_153240.5(NPHP3):c.1985+5G>A

SNV
Germline

Chr3:132699348

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754508002

4 SubmittersRCV000002758 RCV001212619 RCV003221779

NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)

SNV
Germline

Chr3:132696798

Pathogenic

Nephronophthisis 3
Nephronophthisis
Joubert syndrome and related disorders
NPHP3-related Meckel-like syndrome
Condition: not provided
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA115660

rs_267606916

9 SubmittersRCV000002759 RCV000234832 RCV002281691 RCV001330459 RCV001529627 RCV002496237

NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)

SNV
Germline

Chr1:5887403

Pathogenic

Nephronophthisis 4

No Assertion Criteria Provided

CA116181

rs_137852918

1 SubmittersRCV000003568

NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr1:5887394

Pathogenic

Nephronophthisis 4
Nephronophthisis

Criteria Provided
Single Submitter

CA116183

rs_137852919

2 SubmittersRCV000003569 RCV000705098

NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)

SNV
Germline

Chr1:5904716

Pathogenic

Nephronophthisis 4
Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities)
Infertility disorder
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA116185

rs_137852920

4 SubmittersRCV000003570 RCV000162133 RCV001851618

NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser)

SNV
Germline

Chr1:5874946

Pathogenic

Nephronophthisis 4

No Assertion Criteria Provided

CA116187

rs_28940891

1 SubmittersRCV000003571

NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)

SNV
Germline

Chr1:5887436

Pathogenic

Senior-Loken syndrome 4
Nephronophthisis

No Assertion Criteria Provided

CA116188

rs_137852922

2 SubmittersRCV000003573 RCV000234814

NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)

SNV
Germline

Chr1:5904788

Pathogenic

Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Single Submitter

CA116190

rs_137852923

4 SubmittersRCV000003574 RCV000234826 RCV000735764

NM_001128178.3(NPHP1):c.1716+1G>T

SNV
Germline

Chr2:110129185

Pathogenic

Nephronophthisis 1
Nephronophthisis
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_1233478832

3 SubmittersRCV000003682 RCV001851623 RCV003466796

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
Inborn genetic diseases
Joubert syndrome with renal defect

Criteria Provided
Multiple Submitters
No Conflicts

CA116310

rs_121907899

12 SubmittersRCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV004018547 RCV003466797

NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)

SNV
Germline

Chr20:10413405

Pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-biedl syndrome 2/6, digenic
Condition: not provided
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Retinal dystrophy
Inborn genetic diseases
Nephronophthisis
Bardet-Biedl syndrome
MKKS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA170910

rs_74315396

17 SubmittersRCV000005633 RCV000005634 RCV000144678 RCV000724561 RCV000763444 RCV000824067 RCV001075509 RCV001267323 RCV001328206 RCV002222341 RCV004532292

NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)

SNV
Germline

Chr9:100284342

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA121808

rs_121964994

4 SubmittersRCV000788845 RCV000816190 RCV000012737

NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)

SNV
Germline

Chr9:100292976

Pathogenic

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA121811

rs_267607185

4 SubmittersRCV000012739 RCV001851809

NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)

SNV
Germline

Chr9:100292952

Pathogenic

Infantile nephronophthisis
Nephronophthisis
Condition: not provided
INVS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA121813

rs_200844390

9 SubmittersRCV000012740 RCV000234825 RCV002298441 RCV003415689

NM_025132.4(WDR19):c.1034T>G (p.Val345Gly)

SNV
Germline

Chr4:39215913

Pathogenic

Nephronophthisis 13

No Assertion Criteria Provided

CA129408

rs_387906983

1 SubmittersRCV000023684

NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)

SNV
Germline

Chr3:121772659

Pathogenic

Senior-Loken syndrome 5
Retinal dystrophy
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA129459

rs_373909351

7 SubmittersRCV000023757 RCV001075299 RCV000800060

NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)

SNV
Germline

Chr3:121790166

Pathogenic

Senior-Loken syndrome 5
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA129461

rs_387907009

6 SubmittersRCV000023758 RCV000462160 RCV000504719

NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)

SNV
Germline

Chr2:165941111

Pathogenic/Likely pathogenic

Nephronophthisis 12
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
Infantile nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Retinal dystrophy
Finnish congenital nephrotic syndrome
Renal dysplasia and retinal aplasia
Nephrotic syndrome
See cases
TTC21B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA259949

rs_140511594

22 SubmittersRCV000023924 RCV000681870 RCV000685092 RCV000857219 RCV000763456 RCV001074967 RCV000786982 RCV001003236 RCV001328175 RCV002251925 RCV004528134

NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter)

SNV
Germline

Chr2:165919294

Pathogenic

Nephronophthisis 12

No Assertion Criteria Provided

CA259950

rs_387907059

1 SubmittersRCV000023925

NM_024753.5(TTC21B):c.2758-2A>G

SNV
Germline

Chr2:165899882

Pathogenic/Likely pathogenic

Nephronophthisis 12
Infantile nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA259952

rs_766132877

4 SubmittersRCV000023926 RCV000857220 RCV001535927 RCV001852034

NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)

SNV
Germline

Chr2:165929290

Pathogenic

Asphyxiating thoracic dystrophy 4
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA129549

rs_185089786

3 SubmittersRCV000023927 RCV000627256 RCV001857364

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)

SNV
Germline

Chr16:1592176

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Saldino-Mainzer syndrome
Retinitis pigmentosa 80

Criteria Provided
Multiple Submitters
No Conflicts

CA129889

rs_201188361

13 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV001328311 RCV000626465 RCV001249674

NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg)

SNV
Germline

Chr11:117412166

Pathogenic

Nephronophthisis 15

No Assertion Criteria Provided

rs_1565649749

1 SubmittersRCV000030833

NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)

SNV
Germline

Chr11:117338618

Pathogenic

Nephronophthisis 15

No Assertion Criteria Provided

CA130149

rs_387907309

1 SubmittersRCV000030834

NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)

SNV
Germline

Chr11:117351872

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA130150

rs_387907310

3 SubmittersRCV000030835

NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr11:117381864

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

CA130151

rs_387907311

2 SubmittersRCV000030836

NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)

SNV
Germline

Chr11:117387204

Pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA130153

rs_145646425

3 SubmittersRCV000030837

NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

10 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002504949 RCV002285263 RCV003460645

NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)

SNV
Germline

Chr12:88139153

Pathogenic/Likely pathogenic

Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

7 SubmittersRCV000050147 RCV001053674 RCV001091341 RCV001274137 RCV003466923

NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)

SNV
Germline

Chr9:98780235

Conflicting classifications of pathogenicity

Nephronophthisis 16

Criteria Provided
Conflicting Classifications

CA144684

rs_377750405

4 SubmittersRCV000054548

NM_173551.5(ANKS6):c.1973-3C>G

SNV
Germline

Chr9:98768253

Pathogenic/Likely pathogenic

Nephronophthisis 16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144685

rs_397514257

4 SubmittersRCV000054549 RCV000578679

NM_173551.5(ANKS6):c.2512-2A>C

SNV
Germline

Chr9:98736625

Pathogenic

Nephronophthisis 16

No Assertion Criteria Provided

CA144689

rs_397514258

1 SubmittersRCV000054552

NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)

SNV
Germline

Chr17:28741140

Pathogenic/Likely pathogenic

Renal-hepatic-pancreatic dysplasia 2
Condition: not provided
Premature ovarian insufficiency
Renal-hepatic-pancreatic dysplasia 2
Nephronophthisis 9

Criteria Provided
Multiple Submitters
No Conflicts

CA144773

rs_375661404

9 SubmittersRCV000055629 RCV001699113 RCV000766162 RCV002483083

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
Nephronophthisis 1
Senior-Loken syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220570

rs_189320299

5 SubmittersRCV000078491 RCV001243180 RCV002483130 RCV002514380

NM_014425.5(INVS):c.-17C>T

SNV
Germline

Chr9:100104505

Conflicting classifications of pathogenicity

Condition: not provided
Infantile nephronophthisis

Criteria Provided
Conflicting Classifications

CA223137

rs_181463817

2 SubmittersRCV000081625 RCV001169333

NM_014425.5(INVS):c.2775C>T (p.Arg925=)

SNV
Germline

Chr9:100293032

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA223140

rs_146360442

2 SubmittersRCV000081630 RCV001523705

NM_015102.5(NPHP4):c.1005A>G (p.Gln335=)

SNV
Germline

Chr1:5947218

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA223173

rs_398124287

2 SubmittersRCV000081703 RCV002055212

NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)

SNV
Germline

Chr1:5867883

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
Condition: not provided
Kidney disorder
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA223178

rs_139767853

13 SubmittersRCV000081715 RCV000331197 RCV000292444 RCV001093742 RCV001573175 RCV002294019 RCV002498430

NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)

SNV
Germline

Chr1:5863367

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA148749

rs_35641267

7 SubmittersRCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858

NM_015272.5(RPGRIP1L):c.2153-4G>C

SNV
Germline

Chr16:53649119

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223182

rs_201380599

7 SubmittersRCV000081722 RCV000636978 RCV001118787 RCV001120738 RCV001120739 RCV001573698

NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)

SNV
Germline

Chr16:53641066

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA148755

rs_144313291

8 SubmittersRCV000081725 RCV000323400 RCV000280063 RCV000372251 RCV000547462 RCV001271273 RCV002262625 RCV004528293

NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000366483 RCV000351974 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298

NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)

SNV
Germline

Chr3:132708219

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
See cases
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA224190

rs_142021049

8 SubmittersRCV000082660 RCV000259061 RCV001086780 RCV001145353 RCV001145354 RCV001145352 RCV002251973 RCV004529870

NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)

SNV
Germline

Chr3:132722202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Kidney disorder

Criteria Provided
Conflicting Classifications

CA149567

rs_145643112

14 SubmittersRCV000082661 RCV000434124 RCV000987337 RCV001083406 RCV001148319 RCV001148320 RCV002294022

NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)

SNV
Germline

Chr3:132692760

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome and related disorders
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA201362

rs_398124546

4 SubmittersRCV000175246 RCV002281916 RCV002513853 RCV004528299

NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=)

SNV
Germline

Chr3:132690533

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA224191

rs_150489788

2 SubmittersRCV000082667 RCV001434859

NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)

SNV
Germline

Chr3:132684751

Pathogenic

Condition: not provided
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA201960

rs_368138001

3 SubmittersRCV000176505 RCV001246215 RCV002483155

NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)

SNV
Germline

Chr12:88089247

Pathogenic

Condition: not provided
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

7 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011

NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)

SNV
Germline

Chr12:88083888

Pathogenic

Condition: not provided
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227973

rs_62640574

5 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Senior-Loken syndrome 6
Retinitis pigmentosa
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

8 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014

NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)

SNV
Germline

Chr12:88092700

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA150905

rs_372190684

4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807

NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)

SNV
Germline

Chr8:93799678

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11

Criteria Provided
Conflicting Classifications

CA150995

rs_116445698

8 SubmittersRCV000114245 RCV000419164 RCV001079645 RCV001163245 RCV001163246 RCV001163247

NM_025132.4(WDR19):c.1477G>C (p.Asp493His)

SNV
Germline

Chr4:39218103

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Nephronophthisis 13
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA151406

rs_587777349

4 SubmittersRCV000115011 RCV001281114 RCV001753491 RCV001854543

NM_025132.4(WDR19):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr4:39205232

Pathogenic

Nephronophthisis 13

No Assertion Criteria Provided

CA151408

rs_587777350

1 SubmittersRCV000115012

NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)

SNV
Germline

Chr4:39274945

Pathogenic/Likely pathogenic

Nephronophthisis 13
Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

CA151410

rs_587777351

6 SubmittersRCV000115013 RCV000788500 RCV001281118 RCV001854544 RCV002477273

NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)

SNV
Germline

Chr4:39273029

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Condition: not provided
Cranioectodermal dysplasia
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Leber congenital amaurosis
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA151412

rs_79436363

8 SubmittersRCV000115014 RCV000433622 RCV000754960 RCV000653250 RCV000850617 RCV001262101 RCV003224149 RCV003224150

NM_025132.4(WDR19):c.3565+1G>A

SNV
Germline

Chr4:39273062

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA151414

rs_587777352

8 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001212609 RCV001797626 RCV002277157

NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)

SNV
Germline

Chr16:4335060

Pathogenic

Nephronophthisis 7
Nephronophthisis

No Assertion Criteria Provided

CA278429

rs_587777353

2 SubmittersRCV000115016 RCV000234822

NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)

SNV
Germline

Chr2:165917310

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 4
not specified
Nephronophthisis 12
Nephronophthisis
Jeune thoracic dystrophy
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA231579

rs_139441507

8 SubmittersRCV000118723 RCV000407344 RCV000244338 RCV000349862 RCV001080770 RCV002277178

NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)

SNV
Germline

Chr2:165880687

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA231581

rs_140384742

6 SubmittersRCV000118728 RCV001078717 RCV001131126 RCV001131125 RCV004529986

NM_025114.4(CEP290):c.1624-5T>C

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Kidney disorder
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000266641 RCV000297299 RCV000262275 RCV000321698 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080

NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV000293222 RCV001271579 RCV001812001 RCV002294037

NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

7 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV002294038 RCV001812002

NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)

SNV
Germline

Chr12:94412370

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

CA163247

rs_587777486

2 SubmittersRCV000128439

NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)

SNV
Germline

Chr12:94411780

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

CA163250

rs_368619022

2 SubmittersRCV000128441

NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)

SNV
Germline

Chr12:94333527

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

CA163253

rs_587777487

2 SubmittersRCV000128443

NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)

SNV
Germline

Chr12:94378967

Pathogenic

Nephronophthisis 18
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA163256

rs_369483167

5 SubmittersRCV000128444 RCV001528375

NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)

SNV
Germline

Chr12:94333529

Pathogenic

Nephronophthisis 18

No Assertion Criteria Provided

CA163259

rs_587777488

1 SubmittersRCV000128445

NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 10
Joubert syndrome 1
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

12 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001109949 RCV001109950 RCV001110732 RCV001110731 RCV001272010 RCV003888568

NM_025114.4(CEP290):c.1711+1G>A

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

6 SubmittersRCV000144459 RCV002492522 RCV001384909 RCV003387770 RCV003467201 RCV003888575

NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr12:88089157

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277711

rs_587783016

5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203

NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)

SNV
Germline

Chr6:151430154

Conflicting classifications of pathogenicity

Mitochondrial disease
Combined oxidative phosphorylation defect type 11
Condition: not provided
Mitochondrial oxidative phosphorylation disorder
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA048459

rs_144972972

15 SubmittersRCV000240809 RCV000415572 RCV000356860 RCV000826150 RCV001328257 RCV004020580

NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)

SNV
Germline

Chr12:88086443

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV000373904 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881

NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
not specified
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001110739 RCV001079764 RCV001109956 RCV001110741 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882

NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)

SNV
Germline

Chr3:132708187

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA234417

rs_141477666

5 SubmittersRCV000153593 RCV000168169 RCV001145351 RCV001145350 RCV001149669 RCV001704114

NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

14 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046

NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)

SNV
Germline

Chr1:5875036

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
Kidney disorder
Cholestasis

Criteria Provided
Conflicting Classifications

CA333575

rs_183885357

8 SubmittersRCV000153585 RCV000206662 RCV000986223 RCV001098462 RCV001084832 RCV002294050 RCV003447506

NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)

SNV
Germline

Chr3:132684574

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Condition: not provided
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA180240

rs_34391943

8 SubmittersRCV000153592 RCV000226496 RCV000224286 RCV000280342 RCV000404782 RCV001094788 RCV003224174

NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445

NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)

SNV
Germline

Chr12:88118527

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233677

rs_727503854

5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719

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

Criteria Provided
Conflicting Classifications

CA234415

rs_140446520

8 SubmittersRCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425

NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr3:121790112

Pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA200804

rs_727503968

4 SubmittersRCV000174030 RCV000707207 RCV002250577

NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)

SNV
Germline

Chr16:53649028

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA233780

rs_142349647

7 SubmittersRCV000327884 RCV000284497 RCV000384916 RCV000723738 RCV001085401 RCV001831948 RCV004528883

NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)

SNV
Germline

Chr12:88071446

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA233668

rs_727503852

2 SubmittersRCV000152971 RCV001425231

NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000344957 RCV000399776 RCV000291841 RCV000400108 RCV000346891 RCV001085341 RCV003888583

NM_001023570.4(IQCB1):c.264-2A>T

SNV
Germline

Chr3:121826182

Pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA203031

rs_727503969

3 SubmittersRCV000178818 RCV002514955 RCV004567175

NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)

SNV
Germline

Chr1:5864491

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
not specified

Criteria Provided
Conflicting Classifications

CA234406

rs_9662691

3 SubmittersRCV000153582 RCV001089345 RCV003150952

NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)

SNV
Germline

Chr1:5864497

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA234408

rs_375237454

3 SubmittersRCV000153583 RCV001087673 RCV004544399

NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)

SNV
Germline

Chr16:53622279

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA234809

rs_146902870

8 SubmittersRCV000252274 RCV000475862 RCV001116966 RCV001116965 RCV001116967 RCV001704116 RCV002294053

NM_022098.4(XPNPEP3):c.590-8A>G

SNV
Germline

Chr22:40886305

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis-like nephropathy 1

Criteria Provided
Conflicting Classifications

CA235272

rs_143719656

5 SubmittersRCV000154150 RCV001083063

NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)

SNV
Germline

Chr6:24290987

Pathogenic

Nephronophthisis 19
Isolated neonatal sclerosing cholangitis

No Assertion Criteria Provided

CA185948

rs_730880299

1 SubmittersRCV000157642 RCV000477678

NM_016356.5(DCDC2):c.349-2A>G

SNV
Germline

Chr6:24302046

Pathogenic

Nephronophthisis 19
Condition: not provided
Isolated neonatal sclerosing cholangitis
Nephronophthisis 19
Autosomal recessive nonsyndromic hearing loss 66
Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66

Criteria Provided
Multiple Submitters
No Conflicts

CA3654791

rs_760040426

5 SubmittersRCV000157644 RCV000731261 RCV002498783 RCV001850190

NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)

SNV
Germline

Chr1:5863955

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA235731

rs_369162678

5 SubmittersRCV000171146 RCV000308383 RCV001093794 RCV000346948 RCV002478540

NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)

SNV
Germline

Chr1:5874542

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA235733

rs_373369949

4 SubmittersRCV000171147 RCV001058651 RCV004535163 RCV002485085

NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)

SNV
Germline

Chr4:39253193

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13

Criteria Provided
Conflicting Classifications

CA236213

rs_751386429

3 SubmittersRCV000171376 RCV002515238 RCV003989482

NM_153240.5(NPHP3):c.105G>A (p.Lys35=)

SNV
Germline

Chr3:132722251

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA239038

rs_377060857

10 SubmittersRCV000173577 RCV000261403 RCV000332047 RCV000370311 RCV001094879 RCV001704248 RCV002294060

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
Senior-Loken syndrome 1
Nephronophthisis
Nephronophthisis 1

Criteria Provided
Conflicting Classifications

CA239098

rs_371112962

4 SubmittersRCV000173662 RCV000305677 RCV000390136 RCV000353470 RCV001094562

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

SNV
Germline

Chr2:110161645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239100

rs_794726975

3 SubmittersRCV000173663 RCV001852113 RCV002500458

NM_001023570.4(IQCB1):c.877-10G>A

SNV
Germline

Chr3:121795576

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA239156

rs_371057369

2 SubmittersRCV000173719 RCV001419219

NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)

SNV
Germline

Chr16:53664957

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Familial aplasia of the vermis
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA239324

rs_137982921

10 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604

NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)

SNV
Germline

Chr9:100284460

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA240125

rs_116314059

4 SubmittersRCV000174577 RCV001081209 RCV003937566

NM_015102.5(NPHP4):c.1533G>A (p.Pro511=)

SNV
Germline

Chr1:5907193

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA240127

rs_775251652

2 SubmittersRCV000174579 RCV001474060

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

SNV
Germline

Chr2:110146839

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240230

rs_151204566

8 SubmittersRCV000174670 RCV000230927 RCV001128802 RCV001128804 RCV001128803 RCV001699052

NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)

SNV
Germline

Chr9:100292766

Pathogenic

Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA201168

rs_755549444

2 SubmittersRCV000174768 RCV001852129

NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)

SNV
Germline

Chr9:100292568

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA240334

rs_115754570

4 SubmittersRCV000174771 RCV001084833 RCV003947476

NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)

SNV
Germline

Chr1:5905763

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
not specified

Criteria Provided
Conflicting Classifications

CA240343

rs_201903713

5 SubmittersRCV000174775 RCV000261125 RCV000316449 RCV001093920 RCV001698987

NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)

SNV
Germline

Chr2:165917459

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4

Criteria Provided
Conflicting Classifications

CA240377

rs_146320075

6 SubmittersRCV000174799 RCV001078741 RCV000764280 RCV000755750 RCV001134339

NM_025114.4(CEP290):c.1522+6C>T

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV000835406 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001084413 RCV001112002

NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)

SNV
Germline

Chr2:165913617

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA240782

rs_151309609

3 SubmittersRCV000175100 RCV000695456 RCV002485132

NM_153240.5(NPHP3):c.2172-4A>G

SNV
Germline

Chr3:132694969

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1

Criteria Provided
Conflicting Classifications

CA240794

rs_375032661

4 SubmittersRCV000175106 RCV001207746 RCV002485133

NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)

SNV
Germline

Chr1:5890915

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Kidney disorder
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA334827

rs_148424288

10 SubmittersRCV000175205 RCV000204681 RCV000392070 RCV001573161 RCV002294061 RCV001093856

NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)

SNV
Germline

Chr1:5890969

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA240913

rs_191913664

9 SubmittersRCV000724060 RCV000986226 RCV001088494 RCV001100471 RCV004537377

NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)

SNV
Germline

Chr16:53645665

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA201346

rs_139503476

7 SubmittersRCV000175209 RCV000514096 RCV001082641 RCV001120643 RCV001120644 RCV001120642 RCV004537378

NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)

SNV
Germline

Chr3:132692687

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA240970

rs_111683745

5 SubmittersRCV000175248 RCV001087576

NM_025114.4(CEP290):c.1716A>G (p.Leu572=)

SNV
Germline

Chr12:88117141

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA241104

rs_372349042

5 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034

NM_015102.5(NPHP4):c.39T>G (p.Leu13=)

SNV
Germline

Chr1:5986251

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA241676

rs_368335406

2 SubmittersRCV000175868 RCV002056944

NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)

SNV
Germline

Chr16:4333413

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 7
GLIS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA241809

rs_144447862

7 SubmittersRCV000175958 RCV001079077 RCV001116957 RCV003917633 RCV004020088

NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)

SNV
Germline

Chr2:165901892

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA241983

rs_34489989

12 SubmittersRCV000304805 RCV000398651 RCV000509503 RCV000634201 RCV004537393

NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)

SNV
Germline

Chr1:5874953

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA242083

rs_116606479

10 SubmittersRCV000261619 RCV000367814 RCV000723970 RCV001093746 RCV004537396

NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)

SNV
Germline

Chr1:5874890

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA242085

rs_200166175

4 SubmittersRCV000176217 RCV001085756 RCV004539632

NM_015102.5(NPHP4):c.2892C>T (p.Ala964=)

SNV
Germline

Chr1:5875026

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Kidney disorder

Criteria Provided
Conflicting Classifications

CA242088

rs_762709199

3 SubmittersRCV000176221 RCV001479926 RCV002294062

NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)

SNV
Germline

Chr2:165890935

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Chronic kidney disease
Nephronophthisis 12
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA201936

rs_146496725

12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135581 RCV001171333 RCV001135582 RCV002277374

NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)

SNV
Germline

Chr1:5867758

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA242462

rs_560329867

3 SubmittersRCV000176491 RCV000862808 RCV003224190

NM_025114.4(CEP290):c.2487A>G (p.Glu829=)

SNV
Germline

Chr12:88107095

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

CA242475

rs_371159780

5 SubmittersRCV000176500 RCV001074978 RCV001086387 RCV003150970

NM_024753.5(TTC21B):c.3264-3C>G

SNV
Germline

Chr2:165888477

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA242578

rs_189122492

4 SubmittersRCV000176591 RCV001369448 RCV002478579 RCV003333035

NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

10 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001082205 RCV001111528 RCV001111529 RCV001113514 RCV001113515 RCV001275025 RCV004528939

NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)

SNV
Germline

Chr3:132682759

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA242727

rs_143451766

8 SubmittersRCV000176699 RCV000814429 RCV001147810 RCV001147808 RCV001147809 RCV004537410

NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)

SNV
Germline

Chr1:5864423

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA242973

rs_115488133

6 SubmittersRCV000176884 RCV000864161 RCV001099939 RCV001101945 RCV001753581 RCV004537416

NM_014425.5(INVS):c.114T>C (p.Ser38=)

SNV
Germline

Chr9:100126390

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA243424

rs_114056499

3 SubmittersRCV000177284 RCV001085128 RCV003907594

NM_015102.5(NPHP4):c.267C>T (p.Ile89=)

SNV
Germline

Chr1:5978282

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA243428

rs_372171438

3 SubmittersRCV000177286 RCV001425138 RCV004537427

NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)

SNV
Germline

Chr1:5978278

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA243432

rs_201065230

9 SubmittersRCV000177288 RCV000723456 RCV000764007 RCV001081496 RCV001097313 RCV001097312

NM_032575.3(GLIS2):c.522+10G>A

SNV
Germline

Chr16:4334987

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA243568

rs_569937790

2 SubmittersRCV000177391 RCV001431810

NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944

NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)

SNV
Germline

Chr12:88087943

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA244171

rs_369227219

7 SubmittersRCV000177661 RCV001239880 RCV001826902 RCV004020112 RCV004539654

NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)

SNV
Germline

Chr12:88087872

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
not specified

Criteria Provided
Conflicting Classifications

CA244173

rs_184143186

7 SubmittersRCV000177662 RCV001080328 RCV001273073 RCV003150971

NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

9 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864

NM_025114.4(CEP290):c.5013-7A>C

SNV
Germline

Chr12:88080402

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA244955

rs_762217156

2 SubmittersRCV000177954 RCV001496142

NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000320490 RCV000328615 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947

NM_014425.5(INVS):c.367C>T (p.Arg123Trp)

SNV
Germline

Chr9:100226155

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA245342

rs_149315279

5 SubmittersRCV000178293 RCV001089273 RCV003907613

NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)

SNV
Germline

Chr12:88060900

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202959

rs_191613017

5 SubmittersRCV000178636 RCV000637007 RCV001272011 RCV001697163

NM_025114.4(CEP290):c.6523-6T>C

SNV
Germline

Chr12:88060026

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245845

rs_794727692

3 SubmittersRCV000178672 RCV001451553 RCV002517742

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

SNV
Germline

Chr2:110170002

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA245909

rs_774162169

3 SubmittersRCV000178744 RCV003586162 RCV004539674

NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)

SNV
Germline

Chr16:49637521

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14
ZNF423-related disorder

Criteria Provided
Conflicting Classifications

CA246161

rs_34425379

4 SubmittersRCV000178951 RCV001078488 RCV003937620

NM_001379286.1(ZNF423):c.2649C>T (p.Ser883=)

SNV
Germline

Chr16:49636527

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA246167

rs_781131703

2 SubmittersRCV000178953 RCV001309493

NM_001379286.1(ZNF423):c.807C>T (p.Asp269=)

SNV
Germline

Chr16:49638369

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA246170

rs_145503941

2 SubmittersRCV000178954 RCV001088120

NM_001379286.1(ZNF423):c.2400C>T (p.Thr800=)

SNV
Germline

Chr16:49636776

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA246179

rs_151102991

2 SubmittersRCV000178958 RCV001453333

NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)

SNV
Germline

Chr2:165941046

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA246806

rs_149925563

9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132638 RCV001132639 RCV004537489

NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

7 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003227695 RCV003888636 RCV003488430 RCV004539683

NM_025114.4(CEP290):c.341G>A (p.Arg114His)

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

11 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490

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_015102.5(NPHP4):c.945G>A (p.Thr315=)

SNV
Germline

Chr1:5948117

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA247724

rs_115272639

2 SubmittersRCV000180327 RCV001081536

NM_153240.5(NPHP3):c.2089-9C>T

SNV
Germline

Chr3:132696822

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA207387

rs_141397228

6 SubmittersRCV000193710 RCV000535033 RCV001149549 RCV001149550 RCV001149551 RCV001705082

NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)

SNV
Germline

Chr12:88071409

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA208989

rs_780570235

3 SubmittersRCV000194670 RCV000867286 RCV004530109

NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)

SNV
Germline

Chr12:88092734

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA206711

rs_11836796

4 SubmittersRCV000193317 RCV001487901 RCV004530107

NM_025114.4(CEP290):c.1440A>G (p.Glu480=)

SNV
Germline

Chr12:88120196

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA206543

rs_777299440

3 SubmittersRCV000193213 RCV000870071 RCV004541238

NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)

SNV
Germline

Chr16:53641352

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome 7
Inborn genetic diseases
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA207998

rs_146197239

10 SubmittersRCV000194076 RCV000861106 RCV001117062 RCV001117063 RCV001698998 RCV001117064 RCV002517128 RCV001833139

NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)

SNV
Germline

Chr16:53687963

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206389

rs_140067659

9 SubmittersRCV000193122 RCV000861107 RCV001120944 RCV001120942 RCV001120943 RCV001271340 RCV001699228 RCV004020339

NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)

SNV
Germline

Chr1:5863916

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
not specified

Criteria Provided
Conflicting Classifications

CA337751

rs_374146357

6 SubmittersRCV000198249 RCV000407300 RCV000596396 RCV001093793 RCV001699062

NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)

SNV
Germline

Chr1:5905312

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA337864

rs_200104274

3 SubmittersRCV000728888 RCV002054348 RCV004530186

NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)

SNV
Germline

Chr1:5909173

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA336982

rs_199557439

3 SubmittersRCV000593510 RCV001085875 RCV004541272

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

Criteria Provided
Conflicting Classifications

CA336743

rs_780427871

6 SubmittersRCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707

NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)

SNV
Germline

Chr2:165890519

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA338218

rs_34925776

4 SubmittersRCV000198827 RCV000417538 RCV001134079 RCV001134078 RCV002492924

NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)

SNV
Germline

Chr2:165941053

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

CA337921

rs_777162250

1 SubmittersRCV001383380

NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)

SNV
Germline

Chr3:121772575

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
not specified
Condition: not provided
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA336283

rs_139468837

9 SubmittersRCV000196260 RCV000299620 RCV000351992 RCV001562096 RCV003947644

NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)

SNV
Germline

Chr3:132699988

Pathogenic/Likely pathogenic

Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA336458

rs_182135982

3 SubmittersRCV000196484 RCV000763096 RCV000788946

NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys)

SNV
Germline

Chr3:132713256

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA337187

rs_758498695

1 SubmittersRCV000197404

NM_153704.6(TMEM67):c.186T>C (p.Cys62=)

SNV
Germline

Chr8:93755100

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified
Meckel syndrome, type 3
Joubert syndrome 6
Nephronophthisis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336379

rs_115660279

6 SubmittersRCV000196386 RCV000245192 RCV000291370 RCV000339372 RCV000377674 RCV001705157

NM_014425.5(INVS):c.2803C>T (p.His935Tyr)

SNV
Germline

Chr9:100296933

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Infantile nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336473

rs_139768159

4 SubmittersRCV000196500 RCV000378702 RCV001166462 RCV003430754

NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser)

SNV
Germline

Chr16:4337054

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 7

Criteria Provided
Conflicting Classifications

CA336973

rs_200720013

3 SubmittersRCV000197087 RCV000764071

NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)

SNV
Germline

Chr5:37244521

Conflicting classifications of pathogenicity

Joubert syndrome 17
not specified
Condition: not provided
Nephronophthisis
Joubert syndrome and related disorders
CPLANE1-related disorder

Criteria Provided
Conflicting Classifications

CA277763

rs_756856188

8 SubmittersRCV000201674 RCV000500106 RCV000686452 RCV001328280 RCV003330576 RCV003907754

NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)

SNV
Germline

Chr6:135455811

Pathogenic

Joubert syndrome 3
Familial aplasia of the vermis
Condition: not provided
Retinal dystrophy
Nephronophthisis
Rod-cone dystrophy
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA339611

rs_777668842

9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

SNV
Germline

Chr8:93786255

Conflicting classifications of pathogenicity

Joubert syndrome 6
Oligohydramnios
Renal cyst
Familial aplasia of the vermis
Inborn genetic diseases
14 conditions
Meckel syndrome, type 3
Bardet-Biedl syndrome 14
COACH syndrome 1
Nephronophthisis 11
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV003997037

NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)

SNV
Germline

Chr8:93797456

Conflicting classifications of pathogenicity

Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 3
Nephronophthisis 11
not specified

Criteria Provided
Conflicting Classifications

CA279453

rs_863225238

5 SubmittersRCV000201654 RCV001307480 RCV001161723 RCV001163244 RCV001804938

NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)

SNV
Germline

Chr12:88071373

Pathogenic

Joubert syndrome 5
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

4 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924

NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)

SNV
Germline

Chr12:88079112

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

6 SubmittersRCV000201766 RCV000763310 RCV000598977 RCV001058542 RCV003468923

NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)

SNV
Germline

Chr12:88083161

Pathogenic

Joubert syndrome 5
Blindness
Global developmental delay
Condition: not provided
Occipital encephalocele
Cystic renal dysplasia
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

10 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354

NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)

SNV
Germline

Chr12:88084768

Pathogenic

Joubert syndrome 5
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

13 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926

NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)

SNV
Germline

Chr12:88086083

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Leber congenital amaurosis
Occipital encephalocele
Leber congenital amaurosis 10
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

14 SubmittersRCV000201563 RCV000502726 RCV000816913 RCV000763314 RCV001002937 RCV001030764 RCV001589085 RCV001529566 RCV003468919

NM_025114.4(CEP290):c.2343T>C (p.Asn781=)

SNV
Germline

Chr12:88111226

Conflicting classifications of pathogenicity

Joubert syndrome 5
Retinal dystrophy
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA277728

rs_748034744

3 SubmittersRCV000201605 RCV001074504 RCV001471584

NM_025114.4(CEP290):c.1623+1G>A

SNV
Germline

Chr12:88118642

Pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

4 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922

NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)

SNV
Germline

Chr12:88130283

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279451

rs_863225185

4 SubmittersRCV000201653 RCV000503197 RCV003159108 RCV002519580

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_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)

SNV
Germline

Chr3:121772683

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA348358

rs_140630401

6 SubmittersRCV000519668 RCV000787845 RCV001147493 RCV001082244 RCV003917846

NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)

SNV
Germline

Chr3:132682752

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided
Nephronophthisis 3
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349679

rs_146054765

6 SubmittersRCV000205530 RCV000261216 RCV000323357 RCV000732437 RCV001094833 RCV002500642 RCV002517369

NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)

SNV
Germline

Chr8:93765416

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 11

Criteria Provided
Multiple Submitters
No Conflicts

CA348322

rs_138783896

2 SubmittersRCV000204053 RCV001281327

NM_014425.5(INVS):c.1945G>A (p.Val649Met)

SNV
Germline

Chr9:100284480

Conflicting classifications of pathogenicity

Nephronophthisis
Infantile nephronophthisis
Condition: not provided
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA350505

rs_115042730

4 SubmittersRCV000206479 RCV001095342 RCV000595326 RCV003937782

NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser)

SNV
Germline

Chr16:4337129

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 7

Criteria Provided
Conflicting Classifications

CA348424

rs_775114398

2 SubmittersRCV000204182 RCV001094256

NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu)

SNV
Germline

Chr3:132699418

Pathogenic/Likely pathogenic

Inborn genetic diseases
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA358008

rs_869312915

2 SubmittersRCV000210561 RCV002517434

NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)

SNV
Germline

Chr16:53652951

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057711

rs_148230131

8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002519757 RCV002500747 RCV004529383

NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)

SNV
Germline

Chr16:53664948

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Meckel syndrome, type 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 8
Joubert syndrome 7
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057886

rs_79708859

8 SubmittersRCV000224232 RCV000253760 RCV001120842 RCV001079549 RCV001120843 RCV001120844 RCV001833234 RCV004529384

NM_025114.4(CEP290):c.251-11T>A

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386

NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)

SNV
Germline

Chr12:88117076

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

NM_025114.4(CEP290):c.297+1G>T

SNV
Germline

Chr12:88139144

Pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

6 SubmittersRCV000225517 RCV001782716 RCV001833239 RCV001223284 RCV003155133 RCV003469116

NM_025114.4(CEP290):c.148C>T (p.His50Tyr)

SNV
Germline

Chr12:88140988

Likely pathogenic

Retinal dystrophy
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA10581687

rs_878853363

2 SubmittersRCV000225409 RCV001854802

NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)

SNV
Germline

Chr1:5890953

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Senior-Loken syndrome 4
Nephronophthisis 4
Atypical hemolytic-uremic syndrome
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA554238

rs_34248917

7 SubmittersRCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236

NM_014425.5(INVS):c.2310C>T (p.His770=)

SNV
Germline

Chr9:100292567

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Infantile nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5158595

rs_116606949

6 SubmittersRCV000226248 RCV000247908 RCV000625266 RCV000726903

NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

2 SubmittersRCV000226860 RCV001109948 RCV001109944 RCV001109946 RCV001109945 RCV001109947

NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

7 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)

SNV
Germline

Chr16:53619079

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057257

rs_142317242

4 SubmittersRCV000232122 RCV000271829 RCV000302183 RCV000359252 RCV001271323 RCV004532945

NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)

SNV
Germline

Chr8:93799758

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Kidney disorder

Criteria Provided
Conflicting Classifications

CA4808233

rs_115563233

7 SubmittersRCV000234818 RCV000251115 RCV000723708 RCV001087450 RCV001163249 RCV001163248 RCV001163250 RCV002294093

NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)

SNV
Germline

Chr9:100293039

Conflicting classifications of pathogenicity

Nephronophthisis
Infantile nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5158689

rs_376879175

4 SubmittersRCV000234833 RCV000778112 RCV000732003

NM_032575.3(GLIS2):c.775+1G>T

SNV
Germline

Chr16:4335394

Pathogenic

Nephronophthisis
Nephronophthisis 7

No Assertion Criteria Provided

CA10583997

rs_878855335

2 SubmittersRCV000234831 RCV001824027

NM_025114.4(CEP290):c.943-4C>T

SNV
Germline

Chr12:88126442

Conflicting classifications of pathogenicity

not specified
CEP290-related ciliopathies
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712651

rs_199770158

7 SubmittersRCV000238918 RCV000509374 RCV000727048 RCV001083590 RCV002519864

NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)

SNV
Germline

Chr15:89633777

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Acrocallosal syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA7728123

rs_138354681

9 SubmittersRCV000239249 RCV000514812 RCV001086870 RCV001328108

NM_015102.5(NPHP4):c.4141-11C>T

SNV
Germline

Chr1:5863416

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553320

rs_139203183

3 SubmittersRCV000286079 RCV000377961 RCV001522225 RCV004529440

NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)

SNV
Germline

Chr1:5875098

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA553910

rs_35575973

4 SubmittersRCV000242359 RCV000291890 RCV000386368 RCV000726860 RCV001093848

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_024753.5(TTC21B):c.3519T>G (p.Thr1173=)

SNV
Germline

Chr2:165883959

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA1941480

rs_115504901

8 SubmittersRCV000248204 RCV000305694 RCV000358176 RCV000756832 RCV001311939 RCV002278218

NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala)

SNV
Germline

Chr2:165888322

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
Inborn genetic diseases
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA1941516

rs_149454830

6 SubmittersRCV000252032 RCV001697725 RCV000861670 RCV002518656 RCV002278217

NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)

SNV
Germline

Chr2:165901879

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1941767

rs_76726265

8 SubmittersRCV000252244 RCV000861928 RCV001134203 RCV001134204 RCV001705374

NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)

SNV
Germline

Chr2:165915325

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA1941956

rs_140757802

5 SubmittersRCV000253498 RCV000516123 RCV001589274 RCV001854967

NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)

SNV
Germline

Chr2:165917480

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA1942041

rs_149325238

5 SubmittersRCV000249020 RCV000861850 RCV001135808 RCV001135809 RCV001418739

NM_024753.5(TTC21B):c.1650A>G (p.Glu550=)

SNV
Germline

Chr2:165919300

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1942064

rs_145926679

5 SubmittersRCV000244055 RCV000265946 RCV000355902 RCV000537482 RCV001538305

NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys)

SNV
Germline

Chr2:165930299

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA1942274

rs_148866170

3 SubmittersRCV000250774 RCV001570982 RCV001854968

NM_024753.5(TTC21B):c.549T>C (p.Gly183=)

SNV
Germline

Chr2:165943222

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA1942411

rs_141664029

4 SubmittersRCV000249310 RCV000725867 RCV002058338

NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)

SNV
Germline

Chr3:132681932

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA2621594

rs_113364886

5 SubmittersRCV000248210 RCV000542228 RCV001722363 RCV002294209

NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)

SNV
Germline

Chr3:132682798

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2621659

rs_146759786

5 SubmittersRCV000244060 RCV000729271 RCV001082788 RCV001147811 RCV001147812 RCV001149354

NM_153240.5(NPHP3):c.3570+9G>T

SNV
Germline

Chr3:132684545

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Kidney disorder
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2621718

rs_112749193

6 SubmittersRCV000242754 RCV000537454 RCV002294207 RCV002500934

NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)

SNV
Germline

Chr3:132684624

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA2621738

rs_111727307

5 SubmittersRCV000247835 RCV000524884 RCV001722361 RCV002294206

NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)

SNV
Germline

Chr3:132686337

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2621792

rs_11915053

9 SubmittersRCV000243081 RCV000466608 RCV001147015 RCV001147014 RCV001147900 RCV001727662

NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)

SNV
Germline

Chr3:132688682

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Condition: not provided
Kidney disorder
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2621845

rs_112300370

6 SubmittersRCV000242974 RCV000536392 RCV001722359 RCV002294204 RCV002500933

NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)

SNV
Germline

Chr3:132696748

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2622104

rs_558637226

5 SubmittersRCV000248754 RCV000726409 RCV001079754 RCV001775105

NM_153240.5(NPHP3):c.1887+6G>A

SNV
Germline

Chr3:132699912

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2622186

rs_79113972

9 SubmittersRCV000251450 RCV000547153 RCV001147213 RCV001145265 RCV001147212 RCV001573072

NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val)

SNV
Germline

Chr3:132713217

Conflicting classifications of pathogenicity

not specified
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622431

rs_372145755

2 SubmittersRCV000252767 RCV001038847

NM_153240.5(NPHP3):c.670+13C>T

SNV
Germline

Chr3:132718981

Conflicting classifications of pathogenicity

not specified
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622544

rs_202228115

3 SubmittersRCV000254273 RCV000302792 RCV000357645 RCV000404961 RCV001414314

NM_153240.5(NPHP3):c.394-18C>G

SNV
Germline

Chr3:132719848

Conflicting classifications of pathogenicity

not specified
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10586849

rs_886038737

2 SubmittersRCV000248491 RCV002518660

NM_153240.5(NPHP3):c.189G>C (p.Gly63=)

SNV
Germline

Chr3:132722167

Conflicting classifications of pathogenicity

not specified
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis
NPHP3-related Meckel-like syndrome
Condition: not provided
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2622688

rs_750280281

5 SubmittersRCV000243448 RCV000274517 RCV000309950 RCV000366849 RCV000723441 RCV001094846

NM_153704.6(TMEM67):c.120T>C (p.Ser40=)

SNV
Germline

Chr8:93755034

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4807518

rs_767999682

5 SubmittersRCV000244178 RCV000274744 RCV000332073 RCV000388990 RCV000636980 RCV001727663

NM_153704.6(TMEM67):c.869+9A>G

SNV
Germline

Chr8:93780756

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Nephronophthisis 11
Meckel syndrome, type 3
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4807786

rs_372597584

5 SubmittersRCV000254485 RCV000304460 RCV000340533 RCV000405231 RCV000861716 RCV001727664

NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)

SNV
Germline

Chr8:93808848

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA10587012

rs_886038738

3 SubmittersRCV000247688 RCV000314366 RCV000344224 RCV000395284 RCV001455464

NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)

SNV
Germline

Chr8:93816416

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4808442

rs_115967793

4 SubmittersRCV000243894 RCV000549204 RCV001168637 RCV001168639 RCV001168638 RCV001651278

NM_014956.5(CEP164):c.1317+3G>A

SNV
Germline

Chr11:117375794

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 15

Criteria Provided
Conflicting Classifications

CA10587106

rs_886038607

2 SubmittersRCV000251628 RCV001217235

NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000391752 RCV000514061 RCV001084053 RCV001828148

NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282

NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

3 SubmittersRCV000249364 RCV001241555 RCV001195819

NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001109701 RCV001109703 RCV001113718 RCV001113719 RCV001109702 RCV001572697 RCV001086907

NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004

NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)

SNV
Germline

Chr16:53611044

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057230

rs_138724933

8 SubmittersRCV000246270 RCV000296818 RCV000349270 RCV000399116 RCV000861085 RCV001271321 RCV001675738

NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)

SNV
Germline

Chr16:53619190

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA8057277

rs_886038619

3 SubmittersRCV000249264 RCV001115542 RCV001115540 RCV001115541 RCV001317646

NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)

SNV
Germline

Chr16:53622339

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8057298

rs_568801926

7 SubmittersRCV000247114 RCV000281675 RCV000349836 RCV000374184 RCV001729495 RCV002058259

NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)

SNV
Germline

Chr16:53645650

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057506

rs_775153934

4 SubmittersRCV000291093 RCV000343656 RCV000397052 RCV001436236 RCV001279151 RCV004529441

NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)

SNV
Germline

Chr16:53671541

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057932

rs_147295026

6 SubmittersRCV000249002 RCV000636972 RCV001115910 RCV001115908 RCV001115909 RCV001701904

NM_025132.4(WDR19):c.2363+1G>A

SNV
Germline

Chr4:39234876

Pathogenic/Likely pathogenic

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

CA10602914

rs_886041912

3 SubmittersRCV000320568 RCV001234299 RCV002494812

NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr12:88114536

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734

NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)

SNV
Germline

Chr11:117411859

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA6295761

rs_147398904

6 SubmittersRCV000689495 RCV000723949 RCV001074449 RCV002248506

NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)

SNV
Germline

Chr1:5947199

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA554665

rs_190940697

5 SubmittersRCV000357469 RCV000543369 RCV001100780 RCV001100781 RCV002294211 RCV003409400

NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)

SNV
Germline

Chr2:165907716

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA1941809

rs_766811699

4 SubmittersRCV000360722 RCV001134207 RCV001134208 RCV001859543 RCV002487181

NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
not specified
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
Condition: not provided
Kidney disorder
Retinitis pigmentosa
Stuve-Wiedemann syndrome 2

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

14 SubmittersRCV000280320 RCV000342452 RCV000320212 RCV000354111 RCV000396707 RCV000374721 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV001589313 RCV003319345

NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)

SNV
Germline

Chr12:88106770

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy
Joubert syndrome 1
CEP290-related disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

10 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV001380938

NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)

SNV
Germline

Chr3:132684630

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Nephronophthisis
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2621740

rs_138630766

5 SubmittersRCV000343363 RCV001553649 RCV001859546 RCV002494815 RCV003236581

NM_032575.3(GLIS2):c.1026C>T (p.Pro342=)

SNV
Germline

Chr16:4336975

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA7873182

rs_753999588

2 SubmittersRCV000269490 RCV003103752

NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)

SNV
Germline

Chr16:53645635

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057502

rs_61742381

8 SubmittersRCV000270094 RCV000861403 RCV001118693 RCV001118695 RCV001118694 RCV001699420 RCV004535264

NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)

SNV
Germline

Chr1:5905380

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA554344

rs_35959882

4 SubmittersRCV000284712 RCV001087002 RCV004542995 RCV003165723

NM_025114.4(CEP290):c.181-2A>G

SNV
Germline

Chr12:88139566

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

3 SubmittersRCV000262913 RCV001859558 RCV003469222

NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

5 SubmittersRCV000593831 RCV001384490 RCV001199656 RCV003469223

NM_032575.3(GLIS2):c.693C>T (p.Asn231=)

SNV
Germline

Chr16:4335311

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 7
Kidney disorder
GLIS2-related disorder

Criteria Provided
Conflicting Classifications

CA7873089

rs_150071733

5 SubmittersRCV000304669 RCV000327971 RCV001094420 RCV002294213 RCV003930063

NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113144 RCV001113143 RCV001114512 RCV001114513 RCV001697702

NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)

SNV
Germline

Chr1:5864374

Conflicting classifications of pathogenicity

Nephronophthisis 4
Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553411

rs_778306754

4 SubmittersRCV000315514 RCV000353114 RCV000353952 RCV001484563 RCV004543006

NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)

SNV
Germline

Chr12:88093839

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10604281

rs_886042467

2 SubmittersRCV000316579 RCV001417740

NM_015272.5(RPGRIP1L):c.3616+7A>G

SNV
Germline

Chr16:53619018

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057251

rs_373003699

6 SubmittersRCV000299256 RCV000725340 RCV001271322 RCV001088317 RCV001120151 RCV001120152 RCV001120153 RCV004543032

NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)

SNV
Germline

Chr16:53672937

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
not specified
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057968

rs_183419371

9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV001117360 RCV002487213 RCV004017583 RCV004535307

NM_153240.5(NPHP3):c.408G>A (p.Thr136=)

SNV
Germline

Chr3:132719816

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis
NPHP3-related Meckel-like syndrome
Condition: not provided
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2622609

rs_141410951

4 SubmittersRCV000269137 RCV000328897 RCV000364954 RCV000725432 RCV001094914

NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)

SNV
Germline

Chr1:5877103

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553929

rs_201074950

3 SubmittersRCV000398485 RCV001518477 RCV004535329

NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)

SNV
Germline

Chr1:5909210

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
not specified
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554499

rs_372565083

6 SubmittersRCV000343427 RCV000332355 RCV001093815 RCV003151009 RCV002487222 RCV002519168 RCV000277373

NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)

SNV
Germline

Chr11:117381729

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 15
CEP164-related disorder

Criteria Provided
Conflicting Classifications

CA6294759

rs_112209873

3 SubmittersRCV000284554 RCV001087069 RCV003967743

NM_014425.5(INVS):c.2517G>A (p.Lys839=)

SNV
Germline

Chr9:100292774

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158647

rs_147041710

2 SubmittersRCV000370911 RCV001088309

NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)

SNV
Germline

Chr3:121828519

Pathogenic

Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA2567498

rs_201405662

7 SubmittersRCV000329866 RCV000504702 RCV001384418 RCV001535872

NM_025114.4(CEP290):c.4437+1G>A

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Condition: not provided
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571

NM_153704.6(TMEM67):c.369C>T (p.Ala123=)

SNV
Germline

Chr8:93758539

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 11
Meckel syndrome, type 3
not specified
Joubert syndrome 6

Criteria Provided
Conflicting Classifications

CA4807607

rs_115640152

6 SubmittersRCV000384341 RCV001087787 RCV001163029 RCV001163030 RCV001699422 RCV001163031

NM_014425.5(INVS):c.1107T>C (p.His369=)

SNV
Germline

Chr9:100252311

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA5158330

rs_760637052

3 SubmittersRCV000284609 RCV001441613 RCV003967759

NM_001379286.1(ZNF423):c.819C>T (p.Cys273=)

SNV
Germline

Chr16:49638357

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA8046817

rs_201499268

3 SubmittersRCV000335887 RCV001085898

NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)

SNV
Germline

Chr1:5905324

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554339

rs_372430727

7 SubmittersRCV000308350 RCV000363050 RCV000400262 RCV001093812 RCV004543090

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_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)

SNV
Germline

Chr16:53656489

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
RPGRIP1L-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057737

rs_147366111

8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV002487244 RCV001271332 RCV004529473 RCV004021214

NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)

SNV
Germline

Chr1:5864483

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553438

rs_61739637

3 SubmittersRCV000395711 RCV001080139 RCV004535377

NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)

SNV
Germline

Chr1:5887313

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Inborn genetic diseases
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554114

rs_200182705

4 SubmittersRCV000264657 RCV000868723 RCV003278741 RCV004543094

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

Criteria Provided
Conflicting Classifications

CA1827170

rs_140469160

6 SubmittersRCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382

NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)

SNV
Germline

Chr1:5863403

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553315

rs_766613810

2 SubmittersRCV000266655 RCV001500938

NM_025114.4(CEP290):c.6720A>G (p.Gln2240=)

SNV
Germline

Chr12:88058946

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6711440

rs_751895513

2 SubmittersRCV000306500 RCV001460678

NM_015102.5(NPHP4):c.800A>T (p.His267Leu)

SNV
Germline

Chr1:5952710

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554739

rs_201124357

5 SubmittersRCV000296994 RCV000324865 RCV000377050 RCV001093864 RCV004535409

NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)

SNV
Germline

Chr3:132683433

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
not specified
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome

Criteria Provided
Conflicting Classifications

CA2621683

rs_202048210

5 SubmittersRCV000356632 RCV001054416 RCV002282110 RCV002502143

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

SNV
Germline

Chr2:110163104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827217

rs_114250691

5 SubmittersRCV000363080 RCV001084490 RCV000765499 RCV004535410

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

SNV
Germline

Chr2:110124038

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1826867

rs_201460699

4 SubmittersRCV000303839 RCV001067121 RCV004021253

NM_015102.5(NPHP4):c.3168C>T (p.His1056=)

SNV
Germline

Chr1:5874534

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA553773

rs_376351293

5 SubmittersRCV000307652 RCV000638102 RCV001100140 RCV001098357 RCV001726088

NM_015102.5(NPHP4):c.789C>T (p.His263=)

SNV
Germline

Chr1:5952721

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554741

rs_760440073

2 SubmittersRCV000291432 RCV002059247

NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val)

SNV
Germline

Chr3:132708193

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2622376

rs_764000635

3 SubmittersRCV000347274 RCV001214608 RCV004535419

NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)

SNV
Germline

Chr1:5890913

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554221

rs_199628481

4 SubmittersRCV000298397 RCV000296052 RCV000400933 RCV001093807 RCV004535429

NM_014425.5(INVS):c.1704G>A (p.Gly568=)

SNV
Germline

Chr9:100272996

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Infantile nephronophthisis
Kidney disorder

Criteria Provided
Conflicting Classifications

CA5158468

rs_114645869

5 SubmittersRCV000272749 RCV000862161 RCV001166926 RCV002294219

NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)

SNV
Germline

Chr3:132689188

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
not specified
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2621932

rs_116174472

7 SubmittersRCV000274968 RCV000303773 RCV000310058 RCV000364771 RCV000838628 RCV001094791

NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)

SNV
Germline

Chr16:53652877

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057696

rs_143863631

8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000765294 RCV000726350 RCV001054615 RCV001833391 RCV002522007 RCV004543128

NM_014425.5(INVS):c.2454G>A (p.Ala818=)

SNV
Germline

Chr9:100292711

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158633

rs_115937161

3 SubmittersRCV000298562 RCV001078716 RCV001169409

NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)

SNV
Germline

Chr1:5880206

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA554073

rs_147588666

6 SubmittersRCV000334924 RCV000861203 RCV001102311 RCV001102312 RCV001354108 RCV002518104

NM_178170.3(NEK8):c.294C>G (p.Ser98=)

SNV
Germline

Chr17:28734812

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 9

Criteria Provided
Conflicting Classifications

CA8467059

rs_140255077

4 SubmittersRCV000298045 RCV002059279

NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)

SNV
Germline

Chr12:88106824

Pathogenic

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10606630

rs_886044332

2 SubmittersRCV000268793 RCV001859707

NM_025114.4(CEP290):c.6645+1G>A

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Inborn genetic diseases
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606

NM_015102.5(NPHP4):c.2964C>T (p.Ala988=)

SNV
Germline

Chr1:5874954

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553855

rs_373285520

2 SubmittersRCV000351809 RCV001448248

NM_014425.5(INVS):c.1784+8T>C

SNV
Germline

Chr9:100273084

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158475

rs_781669059

2 SubmittersRCV000323843 RCV002059291

NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)

SNV
Germline

Chr1:5904618

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554264

rs_199912631

3 SubmittersRCV000349584 RCV000557261 RCV004543143

NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)

SNV
Germline

Chr1:5875016

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553883

rs_375090704

4 SubmittersRCV000279729 RCV002059309

NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)

SNV
Germline

Chr1:5877257

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553978

rs_112206586

4 SubmittersRCV000284900 RCV000765251 RCV001086833 RCV004537620

NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)

SNV
Germline

Chr3:132682007

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2621607

rs_190548695

4 SubmittersRCV000338910 RCV000799611 RCV000764464 RCV004543152

NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)

SNV
Germline

Chr1:5874906

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553845

rs_185162256

3 SubmittersRCV000379083 RCV001409426 RCV004543153

NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=)

SNV
Germline

Chr1:5874891

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553843

rs_762202268

2 SubmittersRCV000272007 RCV000329409 RCV003748219

NM_015102.5(NPHP4):c.1065G>A (p.Ala355=)

SNV
Germline

Chr1:5947158

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10610219

rs_562484051

2 SubmittersRCV000313161 RCV000365411 RCV001363261

NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=)

SNV
Germline

Chr1:5865156

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553478

rs_762953303

3 SubmittersRCV000287037 RCV000344394 RCV001850566 RCV002480081

NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)

SNV
Germline

Chr1:5865160

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
NPHP4-related disorder
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553479

rs_560944258

5 SubmittersRCV000290652 RCV000382692 RCV000729809 RCV004543176 RCV002059490

NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)

SNV
Germline

Chr1:5865213

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553494

rs_199925943

4 SubmittersRCV000312869 RCV000352075 RCV000595182 RCV001093796 RCV004543177

NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)

SNV
Germline

Chr2:110123893

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1826844

rs_200631256

4 SubmittersRCV000310472 RCV000365164 RCV000401330 RCV000730798 RCV001094594 RCV004544604

NM_015102.5(NPHP4):c.1047C>T (p.Val349=)

SNV
Germline

Chr1:5947176

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554656

rs_560597983

3 SubmittersRCV000273284 RCV000307384 RCV001436222 RCV004537681

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

7 SubmittersRCV000261599 RCV000319080 RCV000385395 RCV000591051 RCV001094595 RCV001549752 RCV004544605

NM_015102.5(NPHP4):c.6C>T (p.Asn2=)

SNV
Germline

Chr1:5986284

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554968

rs_371472576

2 SubmittersRCV000267615 RCV000301621 RCV001406447

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_024753.5(TTC21B):c.2100G>A (p.Lys700=)

SNV
Germline

Chr2:165915239

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1941940

rs_368202285

3 SubmittersRCV000289163 RCV000343584 RCV002057580 RCV004537840

NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala)

SNV
Germline

Chr2:165943290

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1942424

rs_568969576

3 SubmittersRCV000278829 RCV000336979 RCV001520464 RCV004537842

NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)

SNV
Germline

Chr1:5880168

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
not specified
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554063

rs_199875059

3 SubmittersRCV000330012 RCV000384597 RCV000593971 RCV001093852

NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)

SNV
Germline

Chr1:5890912

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554220

rs_373962831

3 SubmittersRCV000283252 RCV000338114 RCV000592408 RCV001379795

NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)

SNV
Germline

Chr1:5927682

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554528

rs_367686843

7 SubmittersRCV000289380 RCV000325654 RCV000592347 RCV001320330 RCV002494924 RCV004021448 RCV004544495

NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)

SNV
Germline

Chr1:5933253

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
not specified
Condition: not provided
Nephronophthisis
Kidney disorder
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554598

rs_117898549

6 SubmittersRCV000340961 RCV000389927 RCV000523327 RCV000766889 RCV001257066 RCV002294254 RCV004537680

NM_015102.5(NPHP4):c.3723C>T (p.Val1241=)

SNV
Germline

Chr1:5865195

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553489

rs_375485412

3 SubmittersRCV000347891 RCV000401689 RCV001481274 RCV004537676

NM_015102.5(NPHP4):c.3645-15C>T

SNV
Germline

Chr1:5865288

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553511

rs_558429618

4 SubmittersRCV000263212 RCV000355588 RCV001699291 RCV002059491

NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)

SNV
Germline

Chr1:5866405

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553535

rs_374003717

5 SubmittersRCV000302018 RCV000359177 RCV000595577 RCV001093845 RCV004543178

NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)

SNV
Germline

Chr1:5904645

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4
Condition: not provided
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554270

rs_200848754

5 SubmittersRCV000324605 RCV000379250 RCV001093915 RCV001706444 RCV004543179

NM_015102.5(NPHP4):c.1764-5C>T

SNV
Germline

Chr1:5905488

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Condition: not provided
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554372

rs_370899989

6 SubmittersRCV000264546 RCV000359321 RCV000595101 RCV001093860 RCV004537679

NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)

SNV
Germline

Chr1:5905727

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554412

rs_753733095

2 SubmittersRCV000319687 RCV000355974 RCV001093919

NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)

SNV
Germline

Chr1:5909193

Conflicting classifications of pathogenicity

NPHP4-related disorder
Condition: not provided
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554491

rs_778043242

4 SubmittersRCV000353231 RCV000728192 RCV001388046 RCV004577521

NM_015102.5(NPHP4):c.136-12G>C

SNV
Germline

Chr1:5978425

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554920

rs_371432148

2 SubmittersRCV000347268 RCV000390158 RCV001454995

NM_015102.5(NPHP4):c.-90A>T

SNV
Germline

Chr1:5992295

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA10611504

rs_527962872

1 SubmittersRCV000319568 RCV000371989

NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)

SNV
Germline

Chr2:165874792

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1941338

rs_147540469

4 SubmittersRCV000297705 RCV000407838 RCV000861564 RCV001812869 RCV003151031

NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)

SNV
Germline

Chr2:165899861

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA1941701

rs_747246700

3 SubmittersRCV000334319 RCV000372660 RCV001861133 RCV002480176

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

Criteria Provided
Conflicting Classifications

CA1827219

rs_141763330

3 SubmittersRCV000277110 RCV000331691 RCV000369975 RCV000595688 RCV001094593

NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)

SNV
Germline

Chr2:165898741

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1941664

rs_146201603

2 SubmittersRCV000277941 RCV000330744 RCV000465241

NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)

SNV
Germline

Chr2:165907774

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
not specified
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA1941818

rs_114725374

9 SubmittersRCV000310489 RCV000365262 RCV001477199 RCV001729542 RCV000842292 RCV002278508

NM_024753.5(TTC21B):c.2259G>A (p.Pro753=)

SNV
Germline

Chr2:165912577

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1941878

rs_570679271

2 SubmittersRCV000317496 RCV000371840 RCV002057579

NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)

SNV
Germline

Chr2:165912609

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided
TTC21B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1941888

rs_183367929

6 SubmittersRCV000263172 RCV000318231 RCV000634198 RCV000756833 RCV004537839 RCV002521311

NM_024753.5(TTC21B):c.1578T>C (p.Ala526=)

SNV
Germline

Chr2:165919372

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA1942076

rs_573290536

2 SubmittersRCV002521312 RCV000267097 RCV000326837

NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)

SNV
Germline

Chr2:165899823

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1941692

rs_151227843

6 SubmittersRCV000281585 RCV000387559 RCV000756834 RCV001859969 RCV004537838

NM_024753.5(TTC21B):c.795+3A>G

SNV
Germline

Chr2:165932970

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA1942342

rs_753275145

4 SubmittersRCV000270836 RCV000360819 RCV001326971 RCV004537841 RCV002504118

NM_153240.5(NPHP3):c.*759G>A

SNV
Germline

Chr3:132681151

Conflicting classifications of pathogenicity

Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614893

rs_116338839

2 SubmittersRCV000305980 RCV000358492 RCV000397162 RCV001848695

NM_153240.5(NPHP3):c.2571-12C>G

SNV
Germline

Chr3:132690662

Conflicting classifications of pathogenicity

Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10614898

rs_886058003

2 SubmittersRCV000287092 RCV000322163 RCV000376889 RCV003765983

NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)

SNV
Germline

Chr3:132696733

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2622099

rs_563403703

3 SubmittersRCV000287621 RCV000342125 RCV000382755 RCV001437650 RCV004530386

NM_153240.5(NPHP3):c.384C>G (p.Ala128=)

SNV
Germline

Chr3:132721972

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622649

rs_201425936

2 SubmittersRCV000275064 RCV000330099 RCV000389283 RCV001437603

NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)

SNV
Germline

Chr3:121770531

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2567043

rs_373762948

2 SubmittersRCV000353462 RCV002057823

NM_001023570.4(IQCB1):c.877-11C>T

SNV
Germline

Chr3:121795577

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2567259

rs_192296154

2 SubmittersRCV000321425 RCV001510260

NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)

SNV
Germline

Chr3:121826096

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA2567463

rs_139299149

3 SubmittersRCV000395791 RCV002057826 RCV003957770

NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)

SNV
Germline

Chr3:132688790

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related disorder
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2621870

rs_777768843

3 SubmittersRCV000295957 RCV000332252 RCV000372926 RCV004530385 RCV002523243

NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)

SNV
Germline

Chr3:132699952

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided
Nephronophthisis 3
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2622191

rs_139730838

6 SubmittersRCV000314328 RCV000348230 RCV000393177 RCV000592297 RCV001094838 RCV004530387

NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)

SNV
Germline

Chr3:132708204

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided
Nephronophthisis 3
Inborn genetic diseases
not specified
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome

Criteria Provided
Conflicting Classifications

CA2622379

rs_138982161

6 SubmittersRCV000291650 RCV000346668 RCV000381270 RCV000728292 RCV001094792 RCV002520084 RCV003151038 RCV002487509

NM_153240.5(NPHP3):c.208C>T (p.Leu70=)

SNV
Germline

Chr3:132722148

Conflicting classifications of pathogenicity

Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622684

rs_765533675

3 SubmittersRCV000306487 RCV000363467 RCV000395057 RCV000731166 RCV001494697

NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)

SNV
Germline

Chr3:121781809

Conflicting classifications of pathogenicity

Renal dysplasia and retinal aplasia
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10616889

rs_886057824

2 SubmittersRCV000273684 RCV000874835

NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)

SNV
Germline

Chr3:121799248

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10616894

rs_886057828

2 SubmittersRCV000341381 RCV002523238

NM_001023570.4(IQCB1):c.1129+13A>G

SNV
Germline

Chr3:121790060

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2567196

rs_371443898

2 SubmittersRCV000271044 RCV002057824

NM_153240.5(NPHP3):c.*1020T>C

SNV
Germline

Chr3:132680890

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA10617278

rs_186828918

1 SubmittersRCV000290084 RCV000328805 RCV000377564

NM_153240.5(NPHP3):c.*1176G>A

SNV
Germline

Chr3:132680734

Conflicting classifications of pathogenicity

Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome

Criteria Provided
Conflicting Classifications

CA10617378

rs_183658380

1 SubmittersRCV000314834 RCV000345128 RCV000396712

NM_153240.5(NPHP3):c.*815G>A

SNV
Germline

Chr3:132681095

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617381

rs_141464909

2 SubmittersRCV000295240 RCV000352473 RCV000381051 RCV001797083

NM_153240.5(NPHP3):c.3570+4A>G

SNV
Germline

Chr3:132684550

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2621719

rs_374989123

4 SubmittersRCV000287561 RCV000328498 RCV000383968 RCV000593165 RCV001319951

NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)

SNV
Germline

Chr3:132688766

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2621863

rs_372990521

2 SubmittersRCV000271744 RCV000331605 RCV000386084 RCV003114502

NM_153240.5(NPHP3):c.2884-4C>G

SNV
Germline

Chr3:132688895

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

CA2621885

rs_185913426

3 SubmittersRCV000278177 RCV000337886 RCV000404291 RCV000596197 RCV001094910

NM_025132.4(WDR19):c.1248T>C (p.Asn416=)

SNV
Germline

Chr4:39216209

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
Jeune thoracic dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13
Cranioectodermal dysplasia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2891800

rs_772867899

4 SubmittersRCV000298705 RCV000400723 RCV001850849 RCV002480216 RCV004021962

NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)

SNV
Germline

Chr8:93816392

Conflicting classifications of pathogenicity

Joubert syndrome 6
Nephronophthisis 11
Meckel syndrome, type 3
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4808435

rs_369812327

2 SubmittersRCV000293650 RCV000390789 RCV000348602 RCV002058749

NM_014425.5(INVS):c.1317C>T (p.Cys439=)

SNV
Germline

Chr9:100252989

Conflicting classifications of pathogenicity

Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10626029

rs_886063266

2 SubmittersRCV000369470

NM_014425.5(INVS):c.3027C>T (p.His1009=)

SNV
Germline

Chr9:100297946

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Infantile nephronophthisis
Kidney disorder

Criteria Provided
Conflicting Classifications

CA5158771

rs_201136636

4 SubmittersRCV000407399 RCV000732192 RCV001095312 RCV002294324

NM_014425.5(INVS):c.2001C>T (p.Gly667=)

SNV
Germline

Chr9:100284536

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158526

rs_536554704

2 SubmittersRCV000291572 RCV003748224

NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)

SNV
Germline

Chr8:93787877

Conflicting classifications of pathogenicity

Nephronophthisis 11
Meckel syndrome, type 3
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA4807976

rs_774288177

2 SubmittersRCV000270206 RCV000306665 RCV000370373 RCV000872573

NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)

SNV
Germline

Chr8:93787942

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Joubert syndrome 6
Nephronophthisis 11
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4807990

rs_114655330

3 SubmittersRCV000275749 RCV000330820 RCV000366747 RCV002058748 RCV002523705

NM_014425.5(INVS):c.118C>G (p.Leu40Val)

SNV
Germline

Chr9:100126394

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA5158084

rs_148219510

4 SubmittersRCV000399541 RCV000734866 RCV001448682 RCV003912559

NM_014425.5(INVS):c.775C>T (p.Leu259=)

SNV
Germline

Chr9:100240219

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10631902

rs_886063264

2 SubmittersRCV000393626 RCV001425550

NM_014425.5(INVS):c.3099C>T (p.Asn1033=)

SNV
Germline

Chr9:100300575

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA5158820

rs_368303175

3 SubmittersRCV000362388 RCV001424635 RCV003970069

NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Kidney disorder
Leber congenital amaurosis
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV002294263 RCV001273074 RCV003888722 RCV004537751

NM_025114.4(CEP290):c.1549T>C (p.Leu517=)

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000299546 RCV000335728 RCV000398619 RCV000305920 RCV000728042 RCV001079199 RCV000360538

NM_032575.3(GLIS2):c.1569G>A (p.Val523=)

SNV
Germline

Chr16:4337518

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 7

Criteria Provided
Conflicting Classifications

CA7873298

rs_371022001

2 SubmittersRCV000331586 RCV001094358

NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)

SNV
Germline

Chr16:53602142

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057127

rs_759935029

4 SubmittersRCV000260137 RCV000324659 RCV000379320 RCV000996270 RCV001413863 RCV004544574

NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)

SNV
Germline

Chr16:53645743

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA10637956

rs_886052096

2 SubmittersRCV000313265 RCV000371312 RCV000401665 RCV002056498

NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

NM_025114.4(CEP290):c.7209+7T>G

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000283328 RCV000322071 RCV000270876 RCV000380635 RCV000729391 RCV000323734 RCV001409432

NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
not specified
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

3 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200

NM_025114.4(CEP290):c.3574-15T>A

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000272452 RCV000321121 RCV000324529 RCV000267083 RCV000378166 RCV001513375

NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Condition: not provided
Microcephaly
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

6 SubmittersRCV000310425 RCV000307295 RCV000365084 RCV000371328 RCV000400672 RCV001562789 RCV001252733 RCV000861492 RCV002467728 RCV003888723

NM_025114.4(CEP290):c.54G>A (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000382505 RCV000386249 RCV001421212 RCV000352716

NM_178170.3(NEK8):c.582C>T (p.Tyr194=)

SNV
Germline

Chr17:28735335

Conflicting classifications of pathogenicity

Nephronophthisis 9

Criteria Provided
Conflicting Classifications

CA8467116

rs_201773965

2 SubmittersRCV000342342

NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

NM_025114.4(CEP290):c.5709+12A>G

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336

NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
not specified
Leber congenital amaurosis
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

4 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001273072 RCV001347081

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Inborn genetic diseases
Retinitis pigmentosa
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

10 SubmittersRCV000276434 RCV000289191 RCV000333827 RCV000327895 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV002520840 RCV001590930 RCV004544543

NM_025114.4(CEP290):c.2616G>A (p.Ser872=)

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV002461069 RCV000860718 RCV001833458 RCV002467729

NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

NM_025114.4(CEP290):c.1623+10G>T

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000376587 RCV000382304 RCV000981128 RCV000327713

NM_025114.4(CEP290):c.503G>A (p.Arg168His)

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Retinitis pigmentosa
Leber congenital amaurosis
not specified
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

7 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752

NM_032575.3(GLIS2):c.291G>A (p.Ser97=)

SNV
Germline

Chr16:4333465

Conflicting classifications of pathogenicity

Nephronophthisis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7872959

rs_529581775

2 SubmittersRCV000267112 RCV000866169

NM_032575.3(GLIS2):c.1128C>T (p.Pro376=)

SNV
Germline

Chr16:4337077

Conflicting classifications of pathogenicity

Nephronophthisis 7
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA7873201

rs_750906253

2 SubmittersRCV000397109 RCV002522847

NM_032575.3(GLIS2):c.1326C>T (p.Ala442=)

SNV
Germline

Chr16:4337275

Conflicting classifications of pathogenicity

Nephronophthisis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7873238

rs_767819594

2 SubmittersRCV000305135 RCV000866574

NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)

SNV
Germline

Chr16:53602185

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057138

rs_377402117

5 SubmittersRCV000284914 RCV000321256 RCV000385189 RCV002504091 RCV000820913 RCV001276306 RCV003278765

NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)

SNV
Germline

Chr16:53637736

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057349

rs_371616177

2 SubmittersRCV000304399 RCV000334324 RCV000400874 RCV004021662

NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)

SNV
Germline

Chr16:53692151

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8058122

rs_202149647

5 SubmittersRCV000260324 RCV000320204 RCV000374585 RCV000867235 RCV001273899 RCV004537803 RCV003992277

NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)

SNV
Germline

Chr16:53692292

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8058137

rs_182207372

3 SubmittersRCV000285017 RCV000339982 RCV000380550 RCV000867344 RCV001273900

NM_178170.3(NEK8):c.618+12C>T

SNV
Germline

Chr17:28735383

Conflicting classifications of pathogenicity

Nephronophthisis 9

Criteria Provided
Conflicting Classifications

CA8467123

rs_11649957

2 SubmittersRCV000389932

NM_032575.3(GLIS2):c.651C>T (p.Asn217=)

SNV
Germline

Chr16:4335188

Conflicting classifications of pathogenicity

Nephronophthisis 7
GLIS2-related disorder

Criteria Provided
Conflicting Classifications

CA7873062

rs_140609747

2 SubmittersRCV000272859 RCV003969900

NM_032575.3(GLIS2):c.1431C>T (p.Pro477=)

SNV
Germline

Chr16:4337380

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 7

Criteria Provided
Conflicting Classifications

CA7873264

rs_150810544

2 SubmittersRCV000325713 RCV001094301

NM_015272.5(RPGRIP1L):c.*1584G>T

SNV
Germline

Chr16:53600492

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647702

rs_151226475

2 SubmittersRCV000260902 RCV000316080 RCV000379947 RCV003422270

NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr16:53652727

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8057665

rs_141979202

3 SubmittersRCV000300536 RCV000352999 RCV000402360 RCV000467631 RCV001271328

NM_015272.5(RPGRIP1L):c.*1627G>A

SNV
Germline

Chr16:53600449

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648543

rs_188203905

2 SubmittersRCV000273866 RCV000300937 RCV000355217 RCV003422269

NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)

SNV
Germline

Chr16:53645626

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057500

rs_141608712

7 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV001243917 RCV001271326 RCV000996271

NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)

SNV
Germline

Chr16:53671528

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057930

rs_144023021

6 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001828320 RCV001239253 RCV002487410 RCV004021665 RCV004537802

NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr16:53692344

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058159

rs_151212590

7 SubmittersRCV000310412 RCV000346684 RCV000398312 RCV000765298 RCV000464407 RCV001562186 RCV001828321 RCV004537804

NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)

SNV
Germline

Chr16:53696210

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA8058197

rs_146925098

6 SubmittersRCV000262935 RCV000298218 RCV000353091 RCV000489212 RCV001081628

NM_178170.3(NEK8):c.1251C>T (p.Ser417=)

SNV
Germline

Chr17:28738699

Conflicting classifications of pathogenicity

Nephronophthisis 9

Criteria Provided
Conflicting Classifications

CA8467366

rs_149239987

2 SubmittersRCV000313424

NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)

SNV
Germline

Chr17:28741418

Conflicting classifications of pathogenicity

Nephronophthisis 9
Condition: not provided
NEK8-related disorder

Criteria Provided
Conflicting Classifications

CA8467584

rs_201548032

4 SubmittersRCV000319909 RCV001660663 RCV003940269

NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)

SNV
Germline

Chr22:40886441

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10251702

rs_137859412

3 SubmittersRCV000279640 RCV000863147

NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)

SNV
Germline

Chr22:40922465

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1

Criteria Provided
Conflicting Classifications

CA10251881

rs_146309087

2 SubmittersRCV000346042

NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr12:88131209

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

7 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818

NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)

SNV
Germline

Chr16:1562008

Conflicting classifications of pathogenicity

Condition: not provided
Saldino-Mainzer syndrome
Nephronophthisis
not specified

Criteria Provided
Conflicting Classifications

CA16042927

rs_1057518064

4 SubmittersRCV000413732 RCV001042480 RCV001328310 RCV002298581

NM_025114.4(CEP290):c.3104-2A>G

SNV
Germline

Chr12:88093977

Pathogenic/Likely pathogenic

6 conditions
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712210

rs_773386777

3 SubmittersRCV000415418 RCV003470370 RCV003766166

NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

Central hypotonia
Molar tooth sign on MRI
Nystagmus
Blindness
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

3 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364

NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)

SNV
Germline

Chr15:41812609

Pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

CA16043972

rs_1057519303

1 SubmittersRCV000415517

NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter)

SNV
Germline

Chr15:41825284

Pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

CA16043973

rs_1057519304

1 SubmittersRCV000415560

NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)

SNV
Germline

Chr15:41815388

Pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

CA7497796

rs_202001274

1 SubmittersRCV000415593

NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)

SNV
Germline

Chr15:41816937

Pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

CA16043974

rs_1057519305

1 SubmittersRCV000415534

NM_014994.3(MAPKBP1):c.2426-1G>A

SNV
Germline

Chr15:41819594

Pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

CA16043975

rs_1057519306

1 SubmittersRCV000415552

NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)

SNV
Germline

Chr15:41821674

Pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

CA16043976

rs_752616462

1 SubmittersRCV000415598

NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability
Joubert syndrome 5
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

7 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV001109866 RCV001109867 RCV004530521

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001245037 RCV001276484 RCV003889881

NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro)

SNV
Germline

Chr3:132684702

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Fibrotic kidney disease

Criteria Provided
Conflicting Classifications

CA16604473

rs_1057521090

3 SubmittersRCV000434888 RCV001318647 RCV003325954

NM_153240.5(NPHP3):c.520-10C>G

SNV
Germline

Chr3:132719154

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2622568

rs_200144727

3 SubmittersRCV000457439 RCV001148217 RCV001148216 RCV001148218 RCV001703569

NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)

SNV
Germline

Chr9:98736542

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 16

Criteria Provided
Conflicting Classifications

CA5153094

rs_199851177

2 SubmittersRCV000438519 RCV001079474

NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)

SNV
Germline

Chr12:88068525

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711569

rs_765002773

5 SubmittersRCV000421065 RCV000726726 RCV001083326 RCV001828431 RCV004533083

NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly)

SNV
Germline

Chr12:94367816

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 18

Criteria Provided
Conflicting Classifications

CA6721683

rs_577668407

2 SubmittersRCV000417742 RCV001034799

NM_025114.4(CEP290):c.1360-4T>G

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886

NM_015272.5(RPGRIP1L):c.3220+13T>C

SNV
Germline

Chr16:53637682

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057344

rs_376659273

4 SubmittersRCV000438977 RCV001120235 RCV001120236 RCV001120237 RCV002522503 RCV004533096

NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)

SNV
Germline

Chr12:88111728

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712388

rs_752513342

3 SubmittersRCV000436721 RCV001242972 RCV004532991

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899

NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)

SNV
Germline

Chr12:94368132

Conflicting classifications of pathogenicity

Nephronophthisis 18
Condition: not provided
Ciliopathy

Criteria Provided
Conflicting Classifications

CA6721749

rs_200971081

3 SubmittersRCV001035539 RCV000434526 RCV003983042

NM_001379286.1(ZNF423):c.3394G>A (p.Glu1132Lys)

SNV
Germline

Chr16:49635782

Conflicting classifications of pathogenicity

Abnormal brain morphology
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA8046307

rs_548986682

2 SubmittersRCV000454164 RCV001232846

NM_001379286.1(ZNF423):c.290G>A (p.Arg97His)

SNV
Germline

Chr16:49730782

Conflicting classifications of pathogenicity

Abnormal brain morphology
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA8046921

rs_745597535

2 SubmittersRCV000454256 RCV001865411

NM_014425.5(INVS):c.1943A>G (p.Asn648Ser)

SNV
Germline

Chr9:100284478

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158513

rs_116686341

3 SubmittersRCV000595240 RCV001088024 RCV001166927

NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)

SNV
Germline

Chr6:24278081

Pathogenic

Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66
Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66
Nephronophthisis 19
Isolated neonatal sclerosing cholangitis

Criteria Provided
Multiple Submitters
No Conflicts

CA136634449

rs_1050411259

3 SubmittersRCV000477711 RCV002525737 RCV002475927

NM_024753.5(TTC21B):c.553-2A>G

SNV
Germline

Chr2:165941186

Likely pathogenic

Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1942393

rs_773580610

2 SubmittersRCV000479541 RCV001377359

NM_014956.5(CEP164):c.380C>A (p.Pro127His)

SNV
Germline

Chr11:117351975

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 15
CEP164-related disorder

Criteria Provided
Conflicting Classifications

CA6294412

rs_143659874

7 SubmittersRCV000485423 RCV001089408 RCV003915334

NM_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588

NM_025114.4(CEP290):c.3461+1G>A

SNV
Germline

Chr12:88092680

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA16619601

rs_766952056

2 SubmittersRCV000485299 RCV001070331

NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)

SNV
Germline

Chr16:49635709

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA8046294

rs_756742718

2 SubmittersRCV000488930 RCV000650250

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_153240.5(NPHP3):c.424C>T (p.Arg142Ter)

SNV
Germline

Chr3:132719800

Pathogenic

Nephronophthisis 3
Nephronophthisis

Criteria Provided
Single Submitter

CA2622608

rs_771742823

2 SubmittersRCV000579387 RCV002527119

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy
Leber congenital amaurosis
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071

NM_025114.4(CEP290):c.1066-1G>A

SNV
Germline

Chr12:88125370

Pathogenic

not specified
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

4 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093

NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)

SNV
Germline

Chr4:39268041

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Conflicting Classifications

CA2892335

rs_567310076

3 SubmittersRCV001227801 RCV001811019 RCV002481645

NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)

SNV
Germline

Chr2:165907746

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
TTC21B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1941813

rs_79746977

5 SubmittersRCV000515936 RCV003151077 RCV002525013 RCV004541600

NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)

SNV
Germline

Chr3:121772566

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

CA2567069

rs_779858591

5 SubmittersRCV000521100 RCV001331479 RCV001851495 RCV003935382

NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)

SNV
Germline

Chr3:132713162

Conflicting classifications of pathogenicity

Condition: not provided
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622426

rs_146250226

4 SubmittersRCV000731009 RCV000764466 RCV001086831

NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

NM_025114.4(CEP290):c.1190-2A>G

SNV
Germline

Chr12:88121168

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712608

rs_200818935

3 SubmittersRCV000523813 RCV001378303 RCV003470653

NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)

SNV
Germline

Chr2:165912581

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Inborn genetic diseases
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1941882

rs_148222901

5 SubmittersRCV000534023 RCV001336665 RCV002483379 RCV002527695 RCV004541651

NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)

SNV
Germline

Chr2:165912578

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Meckel-Gruber-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1941879

rs_539769126

5 SubmittersRCV000550901 RCV001128710 RCV001128711 RCV001258267 RCV001572659

NM_153240.5(NPHP3):c.621A>G (p.Val207=)

SNV
Germline

Chr3:132719043

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2622552

rs_139693694

3 SubmittersRCV000556132 RCV000592903 RCV004537953

NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter)

SNV
Germline

Chr3:132722296

Pathogenic

Nephronophthisis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354590113

rs_773521620

2 SubmittersRCV000539283 RCV001783046

NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu)

SNV
Germline

Chr3:132719794

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2622607

rs_745342273

2 SubmittersRCV000554828 RCV002266984

NM_153240.5(NPHP3):c.1985+1G>A

SNV
Germline

Chr3:132699352

Pathogenic/Likely pathogenic

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA354582360

rs_1553773271

2 SubmittersRCV000558855 RCV002497109

NM_153240.5(NPHP3):c.255G>A (p.Glu85=)

SNV
Germline

Chr3:132722101

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2622674

rs_146839563

3 SubmittersRCV000542817 RCV000611134 RCV000732995

NM_173551.5(ANKS6):c.193G>T (p.Val65Phe)

SNV
Germline

Chr9:98796299

Conflicting classifications of pathogenicity

Nephronophthisis 16
ANKS6-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5153886

rs_745881769

3 SubmittersRCV000532271 RCV003935514 RCV004024281

NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)

SNV
Germline

Chr9:98736571

Conflicting classifications of pathogenicity

Nephronophthisis 16
Condition: not provided
ANKS6-related disorder

Criteria Provided
Conflicting Classifications

CA5153099

rs_200644058

3 SubmittersRCV000558181 RCV002263795 RCV003945307

NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)

SNV
Germline

Chr9:98790434

Conflicting classifications of pathogenicity

Nephronophthisis 16
Inborn genetic diseases
Condition: not provided
ANKS6-related disorder

Criteria Provided
Conflicting Classifications

CA5153820

rs_181546859

4 SubmittersRCV000551531 RCV002526699 RCV003480687 RCV003925693

NM_025114.4(CEP290):c.6358-1G>A

SNV
Germline

Chr12:88060995

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)

SNV
Germline

Chr12:88080196

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385990901

rs_1555205328

1 SubmittersRCV000525824

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
not specified
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV001110659 RCV001110660 RCV001112628 RCV001821528 RCV000550067 RCV001112627 RCV001112629 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

4 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187

NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)

SNV
Germline

Chr12:88120162

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

CA385979851

rs_1278679056

1 SubmittersRCV000540957

NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)

SNV
Germline

Chr12:88121157

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

3 SubmittersRCV000526103 RCV000839270 RCV004537946

NM_025114.4(CEP290):c.943-8A>T

SNV
Germline

Chr12:88126446

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712652

rs_200729812

4 SubmittersRCV000595738 RCV001083503

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Meckel syndrome, type 4
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001199655 RCV001091342 RCV002289749 RCV002497107

NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)

SNV
Germline

Chr12:88118485

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385978708

rs_1272411609

3 SubmittersRCV000579059 RCV002530367 RCV003459415

NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr17:28734897

Pathogenic

Renal-hepatic-pancreatic dysplasia 2
Nephronophthisis 9
Nephronophthisis 9
Renal-hepatic-pancreatic dysplasia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA398424780

rs_752792782

3 SubmittersRCV000583490 RCV002530757 RCV002497226

NM_014425.5(INVS):c.2313T>C (p.Asp771=)

SNV
Germline

Chr9:100292570

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

CA5158596

rs_147112151

3 SubmittersRCV000591504 RCV001089072 RCV003952938

NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)

SNV
Germline

Chr9:100292643

Conflicting classifications of pathogenicity

Condition: not provided
Infantile nephronophthisis
Nephronophthisis
INVS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5158616

rs_147731667

5 SubmittersRCV000594073 RCV000766037 RCV001242893 RCV003962658 RCV004024696

NM_015102.5(NPHP4):c.3309C>T (p.His1103=)

SNV
Germline

Chr1:5873258

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553711

rs_200320780

4 SubmittersRCV000591941 RCV001484122 RCV004543317

NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)

SNV
Germline

Chr3:132684788

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2621763

rs_188431787

3 SubmittersRCV000594676 RCV001436666 RCV004530663

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003465334 RCV003485612

NM_015102.5(NPHP4):c.138C>T (p.Gly46=)

SNV
Germline

Chr1:5978411

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554918

rs_201069164

3 SubmittersRCV000597538 RCV001084148 RCV004530665

NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)

SNV
Germline

Chr1:5874978

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553867

rs_146948888

4 SubmittersRCV000596771 RCV001088166 RCV004543328

NM_014425.5(INVS):c.33T>C (p.Gly11=)

SNV
Germline

Chr9:100104554

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA466552392

rs_1554713054

2 SubmittersRCV000595292 RCV002065145

NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)

SNV
Germline

Chr3:132688712

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2621852

rs_769832219

4 SubmittersRCV000598039 RCV001294980 RCV002483585 RCV004530666

NM_015102.5(NPHP4):c.1440G>A (p.Ser480=)

SNV
Germline

Chr1:5927650

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554517

rs_374690894

4 SubmittersRCV000598206 RCV001257064 RCV001334815

NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058868

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Kidney disorder
CEP290-related disorder
Leber congenital amaurosis 10
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464

NM_001379286.1(ZNF423):c.1176G>A (p.Pro392=)

SNV
Germline

Chr16:49638000

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 14

Criteria Provided
Conflicting Classifications

CA8046741

rs_748728165

2 SubmittersRCV000592535 RCV001296357

NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)

SNV
Germline

Chr12:88102918

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712241

rs_780805963

2 SubmittersRCV000592129 RCV002531013

NM_153240.5(NPHP3):c.2487A>C (p.Thr829=)

SNV
Germline

Chr3:132691275

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA83586376

rs_866796047

2 SubmittersRCV000595262 RCV001087856

NM_153240.5(NPHP3):c.118C>T (p.Leu40=)

SNV
Germline

Chr3:132722238

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

CA2622707

rs_374281831

4 SubmittersRCV000595506 RCV001085782 RCV004543333

NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)

SNV
Germline

Chr1:5904749

Pathogenic

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
NPHP4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA17124406

rs_1025515771

4 SubmittersRCV000594142 RCV001381479 RCV002497256 RCV004530676

NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)

SNV
Germline

Chr12:88050366

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711330

rs_779550219

2 SubmittersRCV000591424 RCV001474775

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

SNV
Germline

Chr2:110163140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1827225

rs_201478764

3 SubmittersRCV000592386 RCV001134447 RCV001134448 RCV001134446 RCV003748247

NM_015102.5(NPHP4):c.594G>C (p.Ala198=)

SNV
Germline

Chr1:5961873

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554795

rs_141538649

3 SubmittersRCV000597094 RCV002062031 RCV004530678

NM_015102.5(NPHP4):c.2109C>T (p.Leu703=)

SNV
Germline

Chr1:5904651

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554273

rs_373182062

2 SubmittersRCV000598459 RCV001078508

NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)

SNV
Germline

Chr12:88089106

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA6712052

rs_182851622

5 SubmittersRCV000591618 RCV001273075 RCV001079405

NM_015102.5(NPHP4):c.3480G>A (p.Pro1160=)

SNV
Germline

Chr1:5867108

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553588

rs_373955397

2 SubmittersRCV000594277 RCV001412671

NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)

SNV
Germline

Chr1:5867864

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA553648

rs_751938743

3 SubmittersRCV000593998 RCV001483791 RCV004543346

NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)

SNV
Germline

Chr1:5904731

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA554298

rs_547495754

4 SubmittersRCV000596610 RCV001002694 RCV001416064 RCV002286526

NM_015102.5(NPHP4):c.3525C>T (p.Ser1175=)

SNV
Germline

Chr1:5867063

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553574

rs_779230173

2 SubmittersRCV000598411 RCV001502276

NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)

SNV
Germline

Chr1:5867795

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553621

rs_371527260

3 SubmittersRCV000594476 RCV001305765 RCV002497261

NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)

SNV
Germline

Chr1:5864351

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Congenital anomaly of kidney and urinary tract
not specified

Criteria Provided
Conflicting Classifications

CA553402

rs_199583130

4 SubmittersRCV000592208 RCV001088286 RCV001849405 RCV003151110

NM_015102.5(NPHP4):c.673+9G>A

SNV
Germline

Chr1:5961785

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554775

rs_368961102

2 SubmittersRCV000595172 RCV001079086

NM_153240.5(NPHP3):c.2311-2A>G

SNV
Germline

Chr3:132692820

Pathogenic/Likely pathogenic

Condition: not provided
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA354581603

rs_1332659264

2 SubmittersRCV000596830 RCV002497265

NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)

SNV
Germline

Chr1:5909177

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554485

rs_201801114

3 SubmittersRCV000594257 RCV001052189 RCV004543357

NM_015102.5(NPHP4):c.2436C>T (p.Gly812=)

SNV
Germline

Chr1:5887335

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554121

rs_376696627

2 SubmittersRCV000591935 RCV001407690

NM_015102.5(NPHP4):c.714G>C (p.Thr238=)

SNV
Germline

Chr1:5952796

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA415787953

rs_1011986078

2 SubmittersRCV000596989 RCV001423729

NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)

SNV
Germline

Chr1:5904739

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554299

rs_375416303

4 SubmittersRCV000595006 RCV000862361 RCV001097015 RCV001097016 RCV004543360

NM_153240.5(NPHP3):c.2232T>C (p.Thr744=)

SNV
Germline

Chr3:132694905

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622071

rs_767339363

2 SubmittersRCV000591374 RCV001451061

NM_014425.5(INVS):c.2760A>G (p.Ala920=)

SNV
Germline

Chr9:100293017

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158686

rs_745573372

2 SubmittersRCV000592744 RCV002532516

NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)

SNV
Germline

Chr3:121797219

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA2567305

rs_778777181

3 SubmittersRCV000596087 RCV002532517 RCV003224343

NM_153240.5(NPHP3):c.2346G>A (p.Val782=)

SNV
Germline

Chr3:132692783

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome

Criteria Provided
Conflicting Classifications

CA2622034

rs_200418725

3 SubmittersRCV000598470 RCV002532539 RCV002497275

NM_014425.5(INVS):c.1122G>A (p.Lys374=)

SNV
Germline

Chr9:100252326

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158336

rs_140255233

2 SubmittersRCV000597105 RCV001079019

NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=)

SNV
Germline

Chr3:132686319

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2621790

rs_139351534

2 SubmittersRCV000592193 RCV002532552

NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)

SNV
Germline

Chr1:5873275

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA553715

rs_41280798

4 SubmittersRCV000597836 RCV000638099 RCV000765245 RCV001096629

NM_015102.5(NPHP4):c.600C>T (p.His200=)

SNV
Germline

Chr1:5961867

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554794

rs_376039101

2 SubmittersRCV000595097 RCV001392811

NM_014425.5(INVS):c.954A>G (p.Ser318=)

SNV
Germline

Chr9:100246663

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158296

rs_778265507

2 SubmittersRCV000597236 RCV001391755

NM_014425.5(INVS):c.3051A>G (p.Thr1017=)

SNV
Germline

Chr9:100297970

Conflicting classifications of pathogenicity

Condition: not provided
Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA466444621

rs_1381275842

3 SubmittersRCV000591614 RCV002506432 RCV003767393

NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=)

SNV
Germline

Chr3:132683486

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2621692

rs_747847543

2 SubmittersRCV000593785 RCV001483287

NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)

SNV
Germline

Chr6:24302010

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis 19
Nephronophthisis 19
Autosomal recessive nonsyndromic hearing loss 66
Isolated neonatal sclerosing cholangitis

Criteria Provided
Multiple Submitters
No Conflicts

CA136637337

rs_904520404

5 SubmittersRCV000595112 RCV001722542 RCV002491217

NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)

SNV
Germline

Chr1:5867848

Conflicting classifications of pathogenicity

Condition: not provided
NPHP4-related disorder
Nephronophthisis
Retinal dystrophy
Nephronophthisis 4
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

CA553638

rs_375836844

6 SubmittersRCV000595557 RCV000778988 RCV001055295 RCV001074439 RCV001335698 RCV002476329

NM_015102.5(NPHP4):c.3360C>T (p.Cys1120=)

SNV
Germline

Chr1:5867852

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA553641

rs_188869698

2 SubmittersRCV000595623 RCV002062082

NM_015102.5(NPHP4):c.2327C>G (p.Pro776Arg)

SNV
Germline

Chr1:5887444

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554151

rs_201527181

4 SubmittersRCV000597374 RCV001470492 RCV004530710

NM_015102.5(NPHP4):c.1446G>A (p.Pro482=)

SNV
Germline

Chr1:5909209

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554498

rs_758600868

2 SubmittersRCV000597554 RCV001478660

NM_015102.5(NPHP4):c.678C>T (p.Asp226=)

SNV
Germline

Chr1:5952832

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554754

rs_755363322

2 SubmittersRCV000593145 RCV002062085

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

SNV
Germline

Chr2:110144503

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

CA1827026

rs_147945403

3 SubmittersRCV000594034 RCV000638098 RCV004543376

NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)

SNV
Germline

Chr11:117371215

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 15

Criteria Provided
Conflicting Classifications

CA6294612

rs_780849567

3 SubmittersRCV000591592 RCV001045186

NM_015102.5(NPHP4):c.279+6C>T

SNV
Germline

Chr1:5978264

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554888

rs_199856317

3 SubmittersRCV000592446 RCV001227808 RCV004543383

NM_153240.5(NPHP3):c.657T>C (p.Cys219=)

SNV
Germline

Chr3:132719007

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622546

rs_200533815

2 SubmittersRCV000595020 RCV001483236

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_015102.5(NPHP4):c.222G>A (p.Thr74=)

SNV
Germline

Chr1:5978327

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554905

rs_768099247

2 SubmittersRCV000596281 RCV002531104

NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)

SNV
Germline

Chr1:5874527

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

CA553770

rs_202004152

10 SubmittersRCV000592906 RCV000765247 RCV001054486 RCV001098354 RCV001098353

NM_014425.5(INVS):c.1986A>G (p.Pro662=)

SNV
Germline

Chr9:100284521

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA466441865

rs_1176710652

2 SubmittersRCV000595981 RCV002062097

NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)

SNV
Germline

Chr1:5890922

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

CA554226

rs_201090359

3 SubmittersRCV000593602 RCV001080629 RCV004530721

NM_153240.5(NPHP3):c.1986-7A>G

SNV
Germline

Chr3:132697369

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622143

rs_373733344

2 SubmittersRCV000595794 RCV001441622

NM_014425.5(INVS):c.2604C>T (p.Ser868=)

SNV
Germline

Chr9:100292861

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158661

rs_751765105

2 SubmittersRCV000594659 RCV001085890

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_014425.5(INVS):c.198T>C (p.Ala66=)

SNV
Germline

Chr9:100126474

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA5158100

rs_150557072

2 SubmittersRCV000591038 RCV001415657

NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)

SNV
Germline

Chr1:5948160

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA554706

rs_527701970

3 SubmittersRCV000593557 RCV001100782 RCV001100783 RCV001509677

NM_153240.5(NPHP3):c.894C>T (p.Asn298=)

SNV
Germline

Chr3:132715148

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA83606150

rs_988823074

2 SubmittersRCV000592826 RCV001496610

NM_153240.5(NPHP3):c.2418A>G (p.Leu806=)

SNV
Germline

Chr3:132692711

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA83587295

rs_1025642403

2 SubmittersRCV000595401 RCV002531112

NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)

SNV
Germline

Chr3:121781790

Pathogenic

Renal dysplasia and retinal aplasia
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA82725920

rs_866982675

3 SubmittersRCV000615076 RCV002529304 RCV004568321

NM_024753.5(TTC21B):c.3874-14T>C

SNV
Germline

Chr2:165874846

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1941349

rs_200347449

4 SubmittersRCV000612511 RCV001130403 RCV001130402 RCV001520867 RCV001811098

NM_024753.5(TTC21B):c.-24C>T

SNV
Germline

Chr2:165953729

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4

Criteria Provided
Conflicting Classifications

CA1942606

rs_554218980

2 SubmittersRCV000601121 RCV001132734 RCV001132735

NM_153240.5(NPHP3):c.306C>T (p.Arg102=)

SNV
Germline

Chr3:132722050

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA2622666

rs_762134618

3 SubmittersRCV000600344 RCV000731779 RCV001391686

NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)

SNV
Germline

Chr12:88054370

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

CA385975540

rs_1424407266

2 SubmittersRCV000610787 RCV002528645

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

SNV
Germline

Chr2:110123968

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA348086183

rs_1473345628

2 SubmittersRCV000627303 RCV003117437

NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000763316 RCV000779118 RCV000814304 RCV003465363

NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)

SNV
Germline

Chr2:165943260

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
Connective tissue disorder
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1942419

rs_199821354

4 SubmittersRCV000634203 RCV001496568 RCV002279455 RCV004544823

NM_024753.5(TTC21B):c.783G>T (p.Gly261=)

SNV
Germline

Chr2:165932985

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1942344

rs_200255917

4 SubmittersRCV000634204 RCV000827647 RCV001131592 RCV001131593 RCV004544824

NM_024753.5(TTC21B):c.2869-2A>G

SNV
Germline

Chr2:165898769

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

CA349049856

rs_1553508246

1 SubmittersRCV000634200

NM_014425.5(INVS):c.1111A>G (p.Ser371Gly)

SNV
Germline

Chr9:100252315

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Infantile nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5158332

rs_200546215

4 SubmittersRCV000729967 RCV001089255 RCV001166924 RCV003258899

NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)

SNV
Germline

Chr9:100284591

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

CA374240778

rs_150001738

1 SubmittersRCV000638094

NM_025114.4(CEP290):c.1523-1G>T

SNV
Germline

Chr12:88118744

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA385979532

rs_1192112844

2 SubmittersRCV000636997 RCV001829789

NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)

SNV
Germline

Chr12:88089467

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712109

rs_376645523

2 SubmittersRCV000733948 RCV001088081

NM_025114.4(CEP290):c.2367+4T>C

SNV
Germline

Chr12:88111198

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA606445521

rs_1413934261

2 SubmittersRCV000637004 RCV004544841

NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr12:88125357

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

7 SubmittersRCV000636983 RCV000763317 RCV001356853 RCV001274130 RCV003459522

NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)

SNV
Germline

Chr12:88087906

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712031

rs_377227262

2 SubmittersRCV000733952 RCV001088958

NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)

SNV
Germline

Chr16:53652983

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057715

rs_141201084

3 SubmittersRCV000636964 RCV001115809 RCV001117240 RCV001115808 RCV001535066

NM_178170.3(NEK8):c.889+1G>T

SNV
Germline

Chr17:28737737

Likely pathogenic

Nephronophthisis 9
Renal-hepatic-pancreatic dysplasia 2
Nephronophthisis 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8467229

rs_780247729

2 SubmittersRCV000648812 RCV002493035

NM_178170.3(NEK8):c.1237A>C (p.Met413Leu)

SNV
Germline

Chr17:28738685

Conflicting classifications of pathogenicity

Nephronophthisis 9
Kidney disorder
NEK8-related disorder

Criteria Provided
Conflicting Classifications

CA8467364

rs_141650477

3 SubmittersRCV000648817 RCV002294361 RCV003945643

NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala)

SNV
Germline

Chr22:40926388

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis-like nephropathy 1

Criteria Provided
Conflicting Classifications

CA10251957

rs_146023695

3 SubmittersRCV000677015 RCV001082671

NM_024753.5(TTC21B):c.152-2A>G

SNV
Germline

Chr2:165949506

Likely pathogenic

Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_760214276

2 SubmittersRCV000656517 RCV002534247

NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)

SNV
Germline

Chr2:165917441

Conflicting classifications of pathogenicity

Condition: not provided
TTC21B-related disorder
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_369159801

3 SubmittersRCV000657791 RCV000778568 RCV001861684

NM_032120.4(RBM48):c.835A>G (p.Thr279Ala)

SNV
Germline

Chr7:92534788

Likely pathogenic

Nephronophthisis

No Assertion Criteria Provided

rs_372607453

1 SubmittersRCV000662274

NM_001040694.2(INCENP):c.2415G>C (p.Gln805His)

SNV
Germline

Chr11:62150080

Likely pathogenic

Nephronophthisis

No Assertion Criteria Provided

rs_61893682

1 SubmittersRCV000662273

NM_032130.3(FAM186B):c.506-2A>G

SNV
Germline

Chr12:49601136

Likely pathogenic

Nephronophthisis

No Assertion Criteria Provided

rs_549662742

1 SubmittersRCV000662275

NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu)

SNV
Germline

Chr15:68086598

Likely pathogenic

Nephronophthisis

No Assertion Criteria Provided

rs_774456004

1 SubmittersRCV000662276

NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)

SNV
Germline

Chr4:39225027

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_771148519

3 SubmittersRCV000754959 RCV002499193 RCV003106018

NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)

SNV
Germline

Chr3:121790208

Pathogenic

Retinal dystrophy
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1189889920

3 SubmittersRCV000678581 RCV001855625 RCV003465543

NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)

SNV
Germline

Chr1:5986157

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_370210428

4 SubmittersRCV000681812 RCV001237139 RCV003453402

NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter)

SNV
Germline

Chr2:165915340

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis 12

No Assertion Criteria Provided

rs_1559056633

2 SubmittersRCV000681869 RCV003319402

NM_001128178.3(NPHP1):c.1761+5A>C

SNV
Germline

Chr2:110125632

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201030203

3 SubmittersRCV000685833 RCV001128700 RCV001128701 RCV001128702 RCV004544942

NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)

SNV
Germline

Chr2:165930358

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1437304335

3 SubmittersRCV000707517 RCV002279494 RCV003313138

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

rs_765263671

4 SubmittersRCV000702943 RCV001200637 RCV002507229 RCV003472242

NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)

SNV
Germline

Chr3:121772620

Pathogenic

Nephronophthisis
Retinal dystrophy
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1280238814

3 SubmittersRCV000689770 RCV001075298 RCV003459679

NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter)

SNV
Germline

Chr3:132686280

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1560000875

1 SubmittersRCV000694553

NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)

SNV
Germline

Chr3:132686363

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_553665584

3 SubmittersRCV000732297 RCV001087106

NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)

SNV
Germline

Chr3:132687223

Pathogenic/Likely pathogenic

Nephronophthisis
NPHP3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_758238787

2 SubmittersRCV000691536 RCV004535722

NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr3:132691199

Pathogenic/Likely pathogenic

Nephronophthisis
Condition: not provided
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_201237799

4 SubmittersRCV000692736 RCV001561432 RCV002485656 RCV003485630

NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)

SNV
Germline

Chr9:100297017

Pathogenic

Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1425211517

2 SubmittersRCV000687565 RCV001644766

NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)

SNV
Germline

Chr9:98778412

Pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

rs_369437168

1 SubmittersRCV000702944

NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)

SNV
Germline

Chr11:117394422

Pathogenic/Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_764893412

2 SubmittersRCV000692933

NM_014956.5(CEP164):c.2493+1G>A

SNV
Germline

Chr11:117392628

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_778819060

2 SubmittersRCV000701490

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Inborn genetic diseases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_772170760

6 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619

NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)

SNV
Germline

Chr12:94310031

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_1207804224

1 SubmittersRCV000701469

NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr9:98790239

Pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

rs_756090222

1 SubmittersRCV000692814

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Condition: not provided
Senior-Loken syndrome 6
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201569048

7 SubmittersRCV000689950 RCV001115042 RCV001115044 RCV001115041 RCV001115043 RCV001756171 RCV001115045 RCV001829910 RCV002477547 RCV004527741 RCV004026344

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_753884599

5 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647

NM_014425.5(INVS):c.2786+2T>C

SNV
Germline

Chr9:100293045

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1322951938

3 SubmittersRCV000722699 RCV000819646 RCV002499336

NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)

SNV
Germline

Chr12:88115149

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1203763812

2 SubmittersRCV000722987 RCV001211577

NM_014425.5(INVS):c.2337G>C (p.Arg779=)

SNV
Germline

Chr9:100292594

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_779298889

2 SubmittersRCV000727576 RCV001464810

NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)

SNV
Germline

Chr3:132684620

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1

Criteria Provided
Conflicting Classifications

rs_371505908

4 SubmittersRCV000727579 RCV001089147 RCV001145058 RCV001145057 RCV001145059

NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr17:28734068

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 9

Criteria Provided
Conflicting Classifications

rs_1567759130

5 SubmittersRCV000728244 RCV000816449

NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)

SNV
Germline

Chr9:100292535

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Infantile nephronophthisis
Inborn genetic diseases
INVS-related disorder

Criteria Provided
Conflicting Classifications

rs_146901872

6 SubmittersRCV000728353 RCV001079190 RCV001169407 RCV002536407 RCV003928217

NM_015102.5(NPHP4):c.1455A>C (p.Pro485=)

SNV
Germline

Chr1:5909200

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_369748651

2 SubmittersRCV000728458 RCV003748271

NM_015102.5(NPHP4):c.2346C>T (p.His782=)

SNV
Germline

Chr1:5887425

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1433852047

2 SubmittersRCV000728542 RCV002535077

NM_015102.5(NPHP4):c.909C>T (p.Val303=)

SNV
Germline

Chr1:5948153

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_201488441

3 SubmittersRCV000728647 RCV001078850 RCV004540037

NM_015102.5(NPHP4):c.228A>G (p.Lys76=)

SNV
Germline

Chr1:5978321

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_749799634

2 SubmittersRCV000728697 RCV002535086

NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)

SNV
Germline

Chr3:132713161

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

rs_781244729

3 SubmittersRCV000728780 RCV001517372 RCV004540040

NM_015102.5(NPHP4):c.3345C>T (p.Pro1115=)

SNV
Germline

Chr1:5867867

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1340607654

2 SubmittersRCV000728801 RCV001405414

NM_014425.5(INVS):c.1079-7C>T

SNV
Germline

Chr9:100252276

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1185982706

2 SubmittersRCV000728864 RCV003768183

NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)

SNV
Germline

Chr1:5877099

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_758757125

3 SubmittersRCV000728977 RCV001083778 RCV004540041

NM_015102.5(NPHP4):c.510C>T (p.Pro170=)

SNV
Germline

Chr1:5967306

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_545943420

3 SubmittersRCV000729005 RCV001081216

NM_153240.5(NPHP3):c.276G>C (p.Glu92Asp)

SNV
Germline

Chr3:132722080

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_143930288

3 SubmittersRCV000729069 RCV001212401

NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)

SNV
Germline

Chr3:132704365

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP3-related disorder

Criteria Provided
Conflicting Classifications

rs_535110862

4 SubmittersRCV000729265 RCV001513291 RCV004540043

NM_015102.5(NPHP4):c.2485+9C>A

SNV
Germline

Chr1:5887277

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

rs_200952409

3 SubmittersRCV000729591 RCV001087806 RCV001102315 RCV001102316

NM_015102.5(NPHP4):c.870C>T (p.Gly290=)

SNV
Germline

Chr1:5948192

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

rs_749844096

3 SubmittersRCV000729600 RCV001359189 RCV002499350

NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)

SNV
Germline

Chr1:5874966

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_375493384

5 SubmittersRCV000729922 RCV001700298 RCV002067102 RCV004535830

NM_015102.5(NPHP4):c.2646C>T (p.Asp882=)

SNV
Germline

Chr1:5877264

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_774354969

3 SubmittersRCV000729927 RCV001440127 RCV004540047

NM_014425.5(INVS):c.1464+1G>T

SNV
Germline

Chr9:100253137

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_375753623

2 SubmittersRCV000730193 RCV001855632

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

SNV
Germline

Chr2:110164655

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_751388694

2 SubmittersRCV000730221 RCV001405423

NM_153240.5(NPHP3):c.2311-6A>C

SNV
Germline

Chr3:132692824

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_769918347

2 SubmittersRCV000730341 RCV001401543

NM_015102.5(NPHP4):c.2611+1G>A

SNV
Germline

Chr1:5880113

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_374141736

2 SubmittersRCV000730589 RCV001379686

NM_015102.5(NPHP4):c.135+7A>G

SNV
Germline

Chr1:5986148

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_755240438

2 SubmittersRCV000730641 RCV001471467

NM_015102.5(NPHP4):c.3237T>C (p.Ser1079=)

SNV
Germline

Chr1:5873330

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_941893164

2 SubmittersRCV000730664 RCV002535161

NM_015102.5(NPHP4):c.309C>T (p.His103=)

SNV
Germline

Chr1:5969230

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_762489156

2 SubmittersRCV000730672 RCV002535162

NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)

SNV
Germline

Chr1:5874528

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
not specified

Criteria Provided
Conflicting Classifications

rs_374354239

5 SubmittersRCV000730710 RCV001084823 RCV001098356 RCV001098355 RCV001700454

NM_014425.5(INVS):c.336G>A (p.Leu112=)

SNV
Germline

Chr9:100226124

Conflicting classifications of pathogenicity

Condition: not provided
Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1564165829

3 SubmittersRCV000730747 RCV002477702 RCV003748272

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

SNV
Germline

Chr2:110169913

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1349732291

3 SubmittersRCV000730826 RCV002493328 RCV003748273

NM_015102.5(NPHP4):c.2901C>T (p.Ile967=)

SNV
Germline

Chr1:5875017

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_764788201

2 SubmittersRCV000730851 RCV003768200

NM_153240.5(NPHP3):c.801A>T (p.Gly267=)

SNV
Germline

Chr3:132716779

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_763333048

2 SubmittersRCV000730886 RCV002535177

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

rs_144217506

2 SubmittersRCV000730935 RCV001868961

NM_025114.4(CEP290):c.2067G>A (p.Lys689=)

SNV
Germline

Chr12:88111844

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_1425613490

3 SubmittersRCV000731111 RCV001473193 RCV004535841

NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)

SNV
Germline

Chr1:5905742

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_751732786

3 SubmittersRCV000731298 RCV001469201 RCV004540055

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

rs_763004817

3 SubmittersRCV000731299 RCV001078658 RCV004535844

NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr)

SNV
Germline

Chr3:132696735

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770302939

3 SubmittersRCV000731315 RCV001480377 RCV003165974

NM_014425.5(INVS):c.2664T>C (p.Ser888=)

SNV
Germline

Chr9:100292921

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

rs_1052867

3 SubmittersRCV000731355 RCV001087356 RCV003918207

NM_015102.5(NPHP4):c.1257C>T (p.His419=)

SNV
Germline

Chr1:5933192

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_768393994

3 SubmittersRCV000731364 RCV002535205 RCV004540057

NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)

SNV
Germline

Chr1:5874987

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

rs_756370084

3 SubmittersRCV000731576 RCV001312906 RCV002493336

NM_153240.5(NPHP3):c.1628+9C>A

SNV
Germline

Chr3:132701421

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1199591337

2 SubmittersRCV000731633 RCV001441175

NM_014425.5(INVS):c.2453C>T (p.Ala818Val)

SNV
Germline

Chr9:100292710

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_115324411

3 SubmittersRCV000731814 RCV000808002 RCV003165976

NM_153240.5(NPHP3):c.1533A>G (p.Gln511=)

SNV
Germline

Chr3:132701525

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_368126549

2 SubmittersRCV000731820 RCV003768215

NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)

SNV
Germline

Chr6:24178590

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 66
Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66
Isolated neonatal sclerosing cholangitis
Nephronophthisis 19
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_183480366

5 SubmittersRCV000731829 RCV001855668 RCV002477709 RCV004027020

NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)

SNV
Germline

Chr1:5927733

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1210874691

3 SubmittersRCV000731877 RCV000796841 RCV002485904

NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)

SNV
Germline

Chr1:5863364

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_754549864

2 SubmittersRCV000731895 RCV001412964

NM_015102.5(NPHP4):c.2556C>T (p.Asn852=)

SNV
Germline

Chr1:5880169

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_775487057

2 SubmittersRCV000731978 RCV001404543

NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=)

SNV
Germline

Chr1:5866453

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_528547815

2 SubmittersRCV000732100 RCV001088122

NM_015102.5(NPHP4):c.2238C>T (p.Thr746=)

SNV
Germline

Chr1:5890934

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_756449736

2 SubmittersRCV000732285 RCV001418757

NM_015102.5(NPHP4):c.1442-8C>T

SNV
Germline

Chr1:5909221

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_766872386

2 SubmittersRCV000732298 RCV002061008

NM_015102.5(NPHP4):c.2433C>T (p.Ile811=)

SNV
Germline

Chr1:5887338

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_779482394

2 SubmittersRCV000732523 RCV002067133

NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp)

SNV
Germline

Chr1:5880212

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1233207932

4 SubmittersRCV000732748 RCV001238590 RCV002477718 RCV004027044

NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)

SNV
Germline

Chr1:5863923

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_200569946

3 SubmittersRCV000733036 RCV001087663 RCV004535864

NM_015102.5(NPHP4):c.3850C>T (p.Arg1284Cys)

SNV
Germline

Chr1:5864484

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_779755743

2 SubmittersRCV000733170 RCV001078560

NM_015102.5(NPHP4):c.4233T>C (p.His1411=)

SNV
Germline

Chr1:5863313

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1557575235

2 SubmittersRCV000733249 RCV002067148

NM_153240.5(NPHP3):c.2190T>C (p.Asn730=)

SNV
Germline

Chr3:132694947

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_780587933

2 SubmittersRCV000733379 RCV001460362

NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=)

SNV
Germline

Chr1:5863325

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_767715436

2 SubmittersRCV000733898 RCV001436711

NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)

SNV
Germline

Chr1:5873333

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_1036816659

3 SubmittersRCV000734182 RCV001410444 RCV004535874

NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)

SNV
Germline

Chr3:132689140

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome

Criteria Provided
Conflicting Classifications

rs_760355143

3 SubmittersRCV000734447 RCV001345688 RCV002499374

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

SNV
Germline

Chr2:110143649

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_750113370

2 SubmittersRCV000734545 RCV001052818

NM_015102.5(NPHP4):c.1437T>A (p.Pro479=)

SNV
Germline

Chr1:5927653

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_767115144

2 SubmittersRCV000734594 RCV002067169

NM_015102.5(NPHP4):c.2612-5C>T

SNV
Germline

Chr1:5877303

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_760099622

2 SubmittersRCV000734719 RCV002535389

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

SNV
Germline

Chr2:110131790

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_567306113

2 SubmittersRCV000734854 RCV001435761

NM_015102.5(NPHP4):c.2289T>C (p.Ala763=)

SNV
Germline

Chr1:5890883

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1161995349

2 SubmittersRCV000735086 RCV002061023

NM_015102.5(NPHP4):c.619C>T (p.Leu207=)

SNV
Germline

Chr1:5961848

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_765514910

3 SubmittersRCV000735118 RCV002507312 RCV002535417

NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)

SNV
Germline

Chr1:5905396

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_201192584

3 SubmittersRCV000735154 RCV001088805 RCV004535885

NM_015102.5(NPHP4):c.1120-9T>A

SNV
Germline

Chr1:5933338

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_570380438

2 SubmittersRCV000735155 RCV001088806

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

SNV
Germline

Chr2:110164685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1365022834

3 SubmittersRCV000735157 RCV002507313 RCV002535419

NM_014425.5(INVS):c.1464+1G>A

SNV
Germline

Chr9:100253137

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_375753623

2 SubmittersRCV000779567 RCV003586219

NM_022098.4(XPNPEP3):c.856-2A>G

SNV
Germline

Chr22:40909120

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1

Criteria Provided
Conflicting Classifications

rs_149609214

2 SubmittersRCV000779374

NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)

SNV
Germline

Chr3:132708202

Pathogenic/Likely pathogenic

Nephronophthisis 3
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1485445500

4 SubmittersRCV000785914 RCV002507353 RCV003133591 RCV003748283

NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

Joubert syndrome 5
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_561598805

5 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316

NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr12:88118660

Pathogenic/Likely pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1465414886

2 SubmittersRCV000785903 RCV001383424

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic

Leber congenital amaurosis
Retinal dystrophy
Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_968692633

9 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318

NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr1:5867887

Pathogenic/Likely pathogenic

Nephronophthisis
Nephronophthisis 4
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_758275952

3 SubmittersRCV000792272 RCV001730711 RCV002487641

NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)

SNV
Germline

Chr2:165931772

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141240501

4 SubmittersRCV000804050 RCV001135928 RCV001135929 RCV002487713 RCV003128708

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_778030031

5 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535

NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)

SNV
Germline

Chr12:88087788

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_1459653241

1 SubmittersRCV000796936

NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087934

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1339975972

2 SubmittersRCV000820623 RCV003467498

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1468942944

3 SubmittersRCV000823686 RCV001830822 RCV003467520

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_760415289

7 SubmittersRCV000810414 RCV001274127 RCV001091339 RCV002487758 RCV003467439

NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr12:88125363

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_1592656929

1 SubmittersRCV000791790

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Night blindness
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

rs_1290241933

6 SubmittersRCV000810939 RCV001274136 RCV001030763 RCV001542774 RCV002290458

NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr12:88140970

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_1592706963

1 SubmittersRCV000823106

NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)

SNV
Germline

Chr12:94375912

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_757301110

1 SubmittersRCV000812989

NM_024753.5(TTC21B):c.3263+1G>A

SNV
Germline

Chr2:165890478

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1574070787

1 SubmittersRCV000795171

NM_014425.5(INVS):c.1078+1G>A

SNV
Germline

Chr9:100246788

Pathogenic

Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_375416014

2 SubmittersRCV000817228 RCV002507430

NM_025114.4(CEP290):c.3104-5T>G

SNV
Germline

Chr12:88093980

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1302558061

1 SubmittersRCV000824247

NM_014425.5(INVS):c.615+1G>A

SNV
Germline

Chr9:100229828

Likely pathogenic

Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_955421639

2 SubmittersRCV000826209

NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)

SNV
Germline

Chr12:88077266

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_186330724

3 SubmittersRCV000841438 RCV001219059 RCV004538159

NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_377156725

2 SubmittersRCV000827318 RCV002538257

NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Retinal dystrophy
Inborn genetic diseases
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_369451049

7 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003889992 RCV004029250 RCV004538167 RCV003448352

NM_001379286.1(ZNF423):c.2555G>A (p.Gly852Glu)

SNV
Germline

Chr16:49636621

Likely pathogenic

Nephronophthisis 14

Criteria Provided
Single Submitter

rs_1596759273

1 SubmittersRCV000850622

NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)

SNV
Germline

Chr9:100284324

Pathogenic/Likely pathogenic

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_755288504

4 SubmittersRCV000851309 RCV003748288

NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)

SNV
Germline

Chr3:132692787

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Nephronophthisis
not specified
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

rs_781180515

4 SubmittersRCV000855408 RCV001858521 RCV002265903 RCV002272374

NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)

SNV
Germline

Chr1:5873300

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Conflicting Classifications

rs_187149431

2 SubmittersRCV000864108 RCV001096630 RCV001096631

NM_015102.5(NPHP4):c.2781C>T (p.Ala927=)

SNV
Germline

Chr1:5877129

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 4
Senior-Loken syndrome 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_199875603

3 SubmittersRCV000861363 RCV001102216 RCV001102217 RCV004540153

NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)

SNV
Germline

Chr1:5986283

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Retinal dystrophy
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_145078518

4 SubmittersRCV001099065 RCV000861300 RCV001075647 RCV001099064 RCV004538177

NM_024753.5(TTC21B):c.876A>G (p.Thr292=)

SNV
Germline

Chr2:165931776

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_185247361

2 SubmittersRCV001135930 RCV001135931 RCV003768647

NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)

SNV
Germline

Chr3:121797212

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
Condition: not provided
IQCB1-related disorder

Criteria Provided
Conflicting Classifications

rs_199959360

5 SubmittersRCV000861997 RCV001144731 RCV001701452 RCV003908168

NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)

SNV
Germline

Chr3:132696770

Conflicting classifications of pathogenicity

Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

rs_117872197

3 SubmittersRCV000863813 RCV001149548 RCV001149547 RCV001149546 RCV002294389

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_375817905

5 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Meckel syndrome, type 4
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_200454865

7 SubmittersRCV000860704 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001111807 RCV001546810 RCV004538174

NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)

SNV
Germline

Chr22:40907611

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1
Inborn genetic diseases
XPNPEP3-related disorder

Criteria Provided
Conflicting Classifications

rs_138501598

4 SubmittersRCV000860450 RCV002536218 RCV003908143

NM_022098.4(XPNPEP3):c.1056-9C>T

SNV
Germline

Chr22:40922324

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1
not specified
Kidney disorder
XPNPEP3-related disorder

Criteria Provided
Conflicting Classifications

rs_116758113

5 SubmittersRCV002064452 RCV003151160 RCV002294387 RCV003938222

NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)

SNV
Germline

Chr1:5874597

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_151151838

4 SubmittersRCV000866116 RCV001100144 RCV001100143 RCV001700474 RCV001726351

NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)

SNV
Germline

Chr2:165901910

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_190101048

3 SubmittersRCV000865774 RCV001134205 RCV001134206 RCV001849461

NM_024753.5(TTC21B):c.1677G>C (p.Val559=)

SNV
Germline

Chr2:165917479

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_149842503

2 SubmittersRCV001135807 RCV001135806 RCV002064595

NM_024753.5(TTC21B):c.785A>T (p.Asp262Val)

SNV
Germline

Chr2:165932983

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_756913474

3 SubmittersRCV001131590 RCV001131591 RCV002062267 RCV003243357

NM_014425.5(INVS):c.1374C>A (p.Thr458=)

SNV
Germline

Chr9:100253046

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis
INVS-related disorder

Criteria Provided
Conflicting Classifications

rs_114912725

3 SubmittersRCV001166925 RCV000868356 RCV003948144

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_370464321

3 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
CEP290-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_757738553

3 SubmittersRCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV000869753 RCV001110315 RCV001110316

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

rs_546463648

4 SubmittersRCV001113520 RCV001275027 RCV004540210 RCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_147362398

6 SubmittersRCV000864755 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001111623 RCV001275029 RCV002294390 RCV003889993 RCV004538226

NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)

SNV
Germline

Chr16:53638360

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_574430009

3 SubmittersRCV000868807 RCV001115636 RCV001115635 RCV001115637 RCV001271324

NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)

SNV
Germline

Chr16:53696186

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

rs_550006406

2 SubmittersRCV000867681 RCV001119074 RCV001119075 RCV001119076

NM_178170.3(NEK8):c.1039G>A (p.Val347Ile)

SNV
Germline

Chr17:28737968

Conflicting classifications of pathogenicity

Nephronophthisis 9

Criteria Provided
Conflicting Classifications

rs_372172665

2 SubmittersRCV001126426

NM_178170.3(NEK8):c.1539T>C (p.Pro513=)

SNV
Germline

Chr17:28740584

Conflicting classifications of pathogenicity

Nephronophthisis 9

Criteria Provided
Conflicting Classifications

rs_368315047

2 SubmittersRCV001122778

NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=)

SNV
Germline

Chr22:40886320

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1

Criteria Provided
Conflicting Classifications

rs_151167805

2 SubmittersRCV000868490

NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)

SNV
Germline

Chr2:165880782

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_376746146

2 SubmittersRCV001505787 RCV002279588

NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=)

SNV
Germline

Chr2:165888288

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4

Criteria Provided
Conflicting Classifications

rs_767037992

2 SubmittersRCV000874145 RCV001134077 RCV001134076

NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser)

SNV
Germline

Chr9:98778268

Conflicting classifications of pathogenicity

Nephronophthisis 16
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150567578

2 SubmittersRCV000878305 RCV001759661

NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln)

SNV
Germline

Chr11:117397308

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases
CEP164-related disorder

Criteria Provided
Conflicting Classifications

rs_61745877

3 SubmittersRCV000878351 RCV003344115 RCV003967953

NM_016122.3(CEP83):c.417+3A>G

SNV
Germline

Chr12:94403167

Conflicting classifications of pathogenicity

Nephronophthisis 18
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_181264654

3 SubmittersRCV000878000 RCV002469313

NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)

SNV
Germline

Chr11:117351975

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143659874

5 SubmittersRCV000951546 RCV001701259

NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)

SNV
Germline

Chr11:117395665

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided
CEP164-related disorder

Criteria Provided
Conflicting Classifications

rs_138868323

3 SubmittersRCV000952062 RCV003318652 RCV003935784

NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)

SNV
Germline

Chr11:117397144

Conflicting classifications of pathogenicity

Nephronophthisis 15
not specified
Inborn genetic diseases
CEP164-related disorder

Criteria Provided
Conflicting Classifications

rs_61740738

4 SubmittersRCV000950908 RCV003151232 RCV002546023 RCV003903214

NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)

SNV
Germline

Chr12:94367905

Conflicting classifications of pathogenicity

Nephronophthisis 18
Condition: not provided
Inborn genetic diseases
CEP83-related disorder

Criteria Provided
Conflicting Classifications

rs_199617764

4 SubmittersRCV000946280 RCV001805942 RCV003169457 RCV003925866

NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu)

SNV
Germline

Chr11:117393029

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201901144

2 SubmittersRCV000883215 RCV002539315

NM_014956.5(CEP164):c.2744G>A (p.Arg915His)

SNV
Germline

Chr11:117394477

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147802563

2 SubmittersRCV000905924 RCV002537594

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001114082 RCV001110041 RCV001110042 RCV001272014 RCV001110043 RCV004533513

NM_173551.5(ANKS6):c.281T>C (p.Val94Ala)

SNV
Germline

Chr9:98796211

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 16
Inborn genetic diseases
ANKS6-related disorder

Criteria Provided
Conflicting Classifications

rs_538147505

4 SubmittersRCV000981681 RCV001395312 RCV002549570 RCV003906109

NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala)

SNV
Germline

Chr22:40881976

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199693203

3 SubmittersRCV001146791 RCV004030055

NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)

SNV
Germline

Chr3:132684718

Pathogenic

Nephronophthisis 3
NPHP3-related Meckel-like syndrome

Criteria Provided
Single Submitter

rs_1576660495

2 SubmittersRCV000985079 RCV001330463

NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter)

SNV
Germline

Chr15:41813735

Likely pathogenic

Nephronophthisis 20

No Assertion Criteria Provided

rs_1596088812

1 SubmittersRCV000984998

NM_025114.4(CEP290):c.6271-8T>G

SNV
Germline

Chr12:88062786

Pathogenic/Likely pathogenic

Joubert syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
See cases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1039146791

4 SubmittersRCV000988880 RCV001869357 RCV002252287 RCV003467551

NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)

SNV
Germline

Chr12:88139522

Conflicting classifications of pathogenicity

Joubert syndrome 1
Retinal dystrophy
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
not specified
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_779010679

5 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546

NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr12:88053733

Pathogenic

Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_375548374

4 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027

NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter)

SNV
Germline

Chr12:94331723

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 18

Criteria Provided
Conflicting Classifications

rs_906852829

2 SubmittersRCV000994961 RCV002549887

NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)

SNV
Germline

Chr1:5874988

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis
Nephronophthisis 4

Criteria Provided
Conflicting Classifications

rs_569364202

3 SubmittersRCV001002718 RCV001442994 RCV002279703

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592784618

5 SubmittersRCV001002935 RCV001860525 RCV003890157 RCV004004474 RCV003467562

NM_153240.5(NPHP3):c.520-1G>T

SNV
Germline

Chr3:132719145

Pathogenic

Nephronophthisis 3
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_759262253

3 SubmittersRCV001003471 RCV002481806 RCV003222191

NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)

SNV
Germline

Chr1:5865152

Pathogenic

Nephronophthisis 4
Nephronophthisis

Criteria Provided
Single Submitter

rs_775612958

3 SubmittersRCV001029764 RCV001328313

NM_025114.4(CEP290):c.297+1G>A

SNV
Germline

Chr12:88139144

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_015102.5(NPHP4):c.2718C>T (p.Arg906=)

SNV
Germline

Chr1:5877192

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_576473519

3 SubmittersRCV001049173 RCV002489608 RCV004536094

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

SNV
Germline

Chr2:110123939

Pathogenic/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

rs_1311042980

3 SubmittersRCV001059818 RCV003467802 RCV002497439

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

SNV
Germline

Chr2:110148020

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375907280

2 SubmittersRCV001042883 RCV003283887

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

SNV
Germline

Chr2:110165137

Pathogenic/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

rs_753517219

3 SubmittersRCV001039504 RCV002505566 RCV003461446

NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)

SNV
Germline

Chr2:165949421

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752147287

3 SubmittersRCV001048635 RCV002481944 RCV003243430

NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr3:121772658

Conflicting classifications of pathogenicity

Nephronophthisis
Senior-Loken syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778777318

4 SubmittersRCV001041746 RCV001147492 RCV003243418

NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)

SNV
Germline

Chr3:132708186

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

rs_755094682

3 SubmittersRCV001041435 RCV002222661 RCV002481887

NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)

SNV
Germline

Chr9:100297102

Pathogenic

Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1329661241

2 SubmittersRCV001034945 RCV002489535

NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)

SNV
Germline

Chr11:117373818

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided
CEP164-related disorder

Criteria Provided
Conflicting Classifications

rs_150314805

5 SubmittersRCV001071532 RCV001540314 RCV003938434

NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr11:117409019

Pathogenic/Likely pathogenic

Nephronophthisis 15
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_140611214

3 SubmittersRCV001069563 RCV002067727

NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)

SNV
Germline

Chr12:88055700

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2033943937

2 SubmittersRCV001063917 RCV001074527

NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)

SNV
Germline

Chr12:88059909

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_2034330893

1 SubmittersRCV001053194

NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)

SNV
Germline

Chr12:88089468

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_372640024

1 SubmittersRCV001045344

NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr12:88106887

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Abnormality of prenatal development or birth

Criteria Provided
Multiple Submitters
No Conflicts

rs_903257336

2 SubmittersRCV001046023 RCV001814260

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 10
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_199583200

5 SubmittersRCV001057249 RCV001111724 RCV001111726 RCV001111727 RCV001562596 RCV001832517 RCV001111723 RCV001111725 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1186821575

3 SubmittersRCV001047416 RCV001832446 RCV003467750

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_770126103

5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800

NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg)

SNV
Germline

Chr12:94368099

Conflicting classifications of pathogenicity

Nephronophthisis 18
Condition: not provided
CEP83-related disorder

Criteria Provided
Conflicting Classifications

rs_185058802

4 SubmittersRCV001044281 RCV001729782 RCV003906156

NM_001379286.1(ZNF423):c.2006A>C (p.Lys669Thr)

SNV
Germline

Chr16:49637170

Conflicting classifications of pathogenicity

Nephronophthisis 14
ZNF423-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_145272522

3 SubmittersRCV001065901 RCV003938429 RCV004030592

NM_015102.5(NPHP4):c.280-1G>C

SNV
Germline

Chr1:5969260

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1652115764

1 SubmittersRCV001052330

NM_153240.5(NPHP3):c.958-2A>G

SNV
Germline

Chr3:132713288

Pathogenic

Nephronophthisis
Condition: not provided
Nephronophthisis 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_780148543

3 SubmittersRCV001052653 RCV001797150 RCV002505602

NM_025132.4(WDR19):c.961+2T>C

SNV
Germline

Chr4:39214673

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

rs_1728876351

2 SubmittersRCV001043448 RCV002481903

NM_025114.4(CEP290):c.4030-2A>G

SNV
Germline

Chr12:88087946

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_2036722229

1 SubmittersRCV001041071

NM_178170.3(NEK8):c.828-1G>C

SNV
Germline

Chr17:28737674

Likely pathogenic

Nephronophthisis 9

Criteria Provided
Single Submitter

rs_749866369

1 SubmittersRCV001041320

NM_025114.4(CEP290):c.1712-2A>T

SNV
Germline

Chr12:88117147

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_764551108

1 SubmittersRCV001035038

NM_025114.4(CEP290):c.1624-5T>G

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039659434

4 SubmittersRCV001063723 RCV001274129 RCV001814265 RCV003467821

NM_014956.5(CEP164):c.2283+2T>C

SNV
Germline

Chr11:117391217

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_1459158279

1 SubmittersRCV001055384

NM_025114.4(CEP290):c.3573+2T>C

SNV
Germline

Chr12:88090726

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1219277452

1 SubmittersRCV001061596

NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)

SNV
Germline

Chr12:88055644

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2033937635

3 SubmittersRCV001074469 RCV003469275 RCV003768995

NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)

SNV
Germline

Chr12:88079202

Conflicting classifications of pathogenicity

Retinal dystrophy
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_748471942

4 SubmittersRCV001074245 RCV001234472 RCV001759855 RCV003469274

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Conflicting classifications of pathogenicity

Retinal dystrophy
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_762633090

5 SubmittersRCV001075311 RCV001243657 RCV001836118 RCV003331040 RCV003469278

NM_025114.4(CEP290):c.6012-12T>A

SNV
Germline

Chr12:88068657

Pathogenic

Retinal dystrophy
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_752197734

3 SubmittersRCV001073239 RCV003768988 RCV003469270

NM_025114.4(CEP290):c.5586+1G>C

SNV
Germline

Chr12:88077696

Likely pathogenic

Retinal dystrophy
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2035880971

2 SubmittersRCV001075437 RCV001862612

NM_025114.4(CEP290):c.4813-4A>G

SNV
Germline

Chr12:88083234

Conflicting classifications of pathogenicity

Retinal dystrophy
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_2036324053

2 SubmittersRCV001075281 RCV002069583

NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058869

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2034232539

3 SubmittersRCV001090821 RCV003469280 RCV003769016

NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr12:88068626

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_750073051

3 SubmittersRCV001090822 RCV002554821 RCV003469281

NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr12:88118673

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_763559949

3 SubmittersRCV001091340 RCV002555950 RCV003469282

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_368984997

4 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004536141

NM_025114.4(CEP290):c.1A>G (p.Met1Val)

SNV
Germline

Chr12:88141307

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2040644756

2 SubmittersRCV001091345 RCV002555951

NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)

SNV
Germline

Chr1:5877237

Conflicting classifications of pathogenicity

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_974196549

2 SubmittersRCV001098575 RCV001098576 RCV002556006

NM_015102.5(NPHP4):c.2490C>T (p.His830=)

SNV
Germline

Chr1:5880235

Conflicting classifications of pathogenicity

Senior-Loken syndrome 4
Nephronophthisis 4
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_549982601

2 SubmittersRCV001102313 RCV001102314 RCV001397878

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_752046733

2 SubmittersRCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001112803 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_777353443

2 SubmittersRCV001110128 RCV001110127 RCV001110125 RCV001110126 RCV001110129 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_1159465602

2 SubmittersRCV001113347 RCV001113346 RCV001114719 RCV001114717 RCV001114718 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_200587974

6 SubmittersRCV001109862 RCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332

NM_025114.4(CEP290):c.54G>C (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_886049885

2 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187

NM_032575.3(GLIS2):c.546G>A (p.Leu182=)

SNV
Germline

Chr16:4335083

Conflicting classifications of pathogenicity

Nephronophthisis 7
GLIS2-related disorder

Criteria Provided
Conflicting Classifications

rs_182526202

2 SubmittersRCV001120233 RCV003945832

NM_032575.3(GLIS2):c.903C>T (p.His301=)

SNV
Germline

Chr16:4336852

Conflicting classifications of pathogenicity

Nephronophthisis 7
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_371341058

2 SubmittersRCV001120538 RCV003586267

NM_015272.5(RPGRIP1L):c.*1033G>A

SNV
Germline

Chr16:53601043

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

rs_145688122

1 SubmittersRCV001118320 RCV001118321 RCV001118322

NM_015272.5(RPGRIP1L):c.*491C>G

SNV
Germline

Chr16:53601585

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_35669682

2 SubmittersRCV001118427 RCV001118426 RCV001118428 RCV003326543

NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)

SNV
Germline

Chr16:53622320

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_973841786

4 SubmittersRCV001116968 RCV001116969 RCV001116970 RCV001856535 RCV002491365 RCV003425936

NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)

SNV
Germline

Chr16:53649009

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_768672275

2 SubmittersRCV001117154 RCV001117155 RCV001117156 RCV001433946

NM_015272.5(RPGRIP1L):c.530-15T>C

SNV
Germline

Chr16:53687980

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_368728064

4 SubmittersRCV001120945 RCV001120946 RCV001120947 RCV001700699 RCV001702084 RCV001409417

NM_015272.5(RPGRIP1L):c.230+14G>A

SNV
Germline

Chr16:53696137

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_1970739259

2 SubmittersRCV001117473 RCV001119073 RCV001119072 RCV002069898

NM_178170.3(NEK8):c.48-10G>A

SNV
Germline

Chr17:28733973

Conflicting classifications of pathogenicity

Nephronophthisis 9

Criteria Provided
Conflicting Classifications

rs_769058088

2 SubmittersRCV001123770

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

SNV
Germline

Chr2:110123597

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_189472793

1 SubmittersRCV001135697 RCV001135695 RCV001135696

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

rs_767719020

3 SubmittersRCV001136002 RCV001136003 RCV001136004 RCV001412525 RCV004545078

NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)

SNV
Germline

Chr2:165890936

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_377209277

3 SubmittersRCV001135584 RCV001135583 RCV001856729 RCV002505708

NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)

SNV
Germline

Chr2:165919313

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_140323384

2 SubmittersRCV001128821 RCV001128820 RCV001873517

NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=)

SNV
Germline

Chr2:165919375

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_199559023

2 SubmittersRCV001131473 RCV001131474 RCV002070534

NM_024753.5(TTC21B):c.1563C>T (p.His521=)

SNV
Germline

Chr2:165919387

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

rs_138294801

3 SubmittersRCV001131475 RCV001131476 RCV002070535 RCV004538354

NM_024753.5(TTC21B):c.338A>G (p.His113Arg)

SNV
Germline

Chr2:165945615

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

rs_146865517

4 SubmittersRCV001136012 RCV001136013 RCV001856735 RCV002505709 RCV004538356

NM_024753.5(TTC21B):c.256A>C (p.Asn86His)

SNV
Germline

Chr2:165949400

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_773555238

3 SubmittersRCV001136014 RCV001136015 RCV001856736

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

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

rs_767903893

2 SubmittersRCV001134449 RCV001134450 RCV001134451 RCV001481343

NM_024753.5(TTC21B):c.3805+13A>G

SNV
Germline

Chr2:165880666

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_529123534

2 SubmittersRCV001130404 RCV001130405 RCV002070522

NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)

SNV
Germline

Chr3:121770486

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1399676175

2 SubmittersRCV001146576 RCV002070777

NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)

SNV
Germline

Chr3:121781760

Conflicting classifications of pathogenicity

Senior-Loken syndrome 5
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_147708058

2 SubmittersRCV001147494 RCV002032375

NM_153240.5(NPHP3):c.*926C>T

SNV
Germline

Chr3:132680984

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

rs_570076170

1 SubmittersRCV001149239 RCV001149240 RCV001149241

NM_153240.5(NPHP3):c.1118+11A>C

SNV
Germline

Chr3:132713115

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Nephronophthisis
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1

Criteria Provided
Conflicting Classifications

rs_751629184

2 SubmittersRCV001147300 RCV001393518 RCV001147298 RCV001147299

NM_022098.4(XPNPEP3):c.792+13T>C

SNV
Germline

Chr22:40886528

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1

Criteria Provided
Conflicting Classifications

rs_376777685

2 SubmittersRCV001147685

NM_153704.6(TMEM67):c.2764+10A>T

SNV
Germline

Chr8:93809897

Conflicting classifications of pathogenicity

Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_900677485

2 SubmittersRCV001163358 RCV001163357 RCV001163359 RCV002558566

NM_014425.5(INVS):c.501G>A (p.Leu167=)

SNV
Germline

Chr9:100229713

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_767884283

2 SubmittersRCV001166400 RCV001859082

NM_153704.6(TMEM67):c.2907+9T>C

SNV
Germline

Chr8:93815456

Conflicting classifications of pathogenicity

Nephronophthisis 11
Joubert syndrome 6
Meckel syndrome, type 3
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

rs_372865972

2 SubmittersRCV001166921 RCV001166922 RCV001166923 RCV001404061

NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)

SNV
Germline

Chr4:39224963

Likely pathogenic

Nephronophthisis 13

Criteria Provided
Single Submitter

rs_1730093487

2 SubmittersRCV001175235

NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)

SNV
Germline

Chr1:5986278

Pathogenic/Likely pathogenic

Senior-Loken syndrome 4
Kidney disorder
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_780905861

3 SubmittersRCV001197495 RCV002294447 RCV003117841

NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)

SNV
Unknown

Chr11:117351871

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_373403222

1 SubmittersRCV001195792

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_555755221

4 SubmittersRCV001198220 RCV001211579 RCV001828613 RCV003469314

NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr1:5933221

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1237376396

2 SubmittersRCV001223028

NM_024753.5(TTC21B):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:165953705

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_1435376086

2 SubmittersRCV001217260 RCV004577542

NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)

SNV
Germline

Chr3:132688664

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_1007848349

2 SubmittersRCV001220697 RCV002298907

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412133967

8 SubmittersRCV001222226 RCV001828771 RCV001529282 RCV002283532 RCV004546619

NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr1:5905690

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_113413307

1 SubmittersRCV001209115

NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)

SNV
Germline

Chr2:165930346

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
TTC21B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140899101

4 SubmittersRCV001212557 RCV002497725 RCV004538457 RCV004033859

NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)

SNV
Germline

Chr3:121797132

Pathogenic/Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1949225959

2 SubmittersRCV001212634 RCV003462714

NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)

SNV
Germline

Chr3:132689106

Pathogenic/Likely pathogenic

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_148670389

3 SubmittersRCV001205716 RCV002504239 RCV004528417

NM_014425.5(INVS):c.2002G>T (p.Gly668Ter)

SNV
Germline

Chr9:100284537

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_764384987

1 SubmittersRCV001209172

NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)

SNV
Germline

Chr12:88090781

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2036974151

1 SubmittersRCV001204615

NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr12:88117104

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_867094910

2 SubmittersRCV001203138 RCV004570424

NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)

SNV
Germline

Chr12:88136746

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2040373653

1 SubmittersRCV001202458

NM_016122.3(CEP83):c.1660A>T (p.Asn554Tyr)

SNV
Germline

Chr12:94331747

Conflicting classifications of pathogenicity

Nephronophthisis 18
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200232390

3 SubmittersRCV001212002 RCV002561773 RCV004546615

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

SNV
Germline

Chr2:110164519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_150520157

4 SubmittersRCV001203841 RCV001535975 RCV003462683 RCV003226442

NM_025114.4(CEP290):c.5709+1G>A

SNV
Germline

Chr12:88077221

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_759850328

2 SubmittersRCV001211207 RCV001833851

NM_015102.5(NPHP4):c.2304+1G>A

SNV
Germline

Chr1:5890867

Pathogenic

Nephronophthisis
Nephronophthisis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_757412845

2 SubmittersRCV001221547 RCV002283531

NM_024753.5(TTC21B):c.2868+1G>T

SNV
Germline

Chr2:165899769

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_1685487857

1 SubmittersRCV001223913

NM_153240.5(NPHP3):c.3812+1G>T

SNV
Germline

Chr3:132682702

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1459151671

1 SubmittersRCV001215419

NM_015102.5(NPHP4):c.1377G>A (p.Thr459=)

SNV
Germline

Chr1:5927713

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_769077319

2 SubmittersRCV001226480 RCV004538475

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

SNV
Germline

Chr2:110125673

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1679301117

1 SubmittersRCV001234710

NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter)

SNV
Germline

Chr3:132682083

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1939045407

1 SubmittersRCV001232674

NM_153240.5(NPHP3):c.1714T>G (p.Ser572Ala)

SNV
Germline

Chr3:132700363

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781274734

2 SubmittersRCV001238696 RCV003426009

NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)

SNV
Germline

Chr11:117390862

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_963142616

1 SubmittersRCV001236565

NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)

SNV
Germline

Chr12:88090787

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2036975289

1 SubmittersRCV001232419

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr12:88120246

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1437841365

2 SubmittersRCV001230980 RCV003469413

NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)

SNV
Germline

Chr1:5967299

Pathogenic

Nephronophthisis
Nephronophthisis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_997408852

2 SubmittersRCV001243421 RCV001257427

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

SNV
Germline

Chr2:110144532

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_764740388

1 SubmittersRCV001239557

NM_014425.5(INVS):c.464G>A (p.Trp155Ter)

SNV
Germline

Chr9:100229676

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1007394906

2 SubmittersRCV001242107

NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)

SNV
Germline

Chr11:117391141

Pathogenic/Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_562932233

2 SubmittersRCV001247354

NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

rs_200969981

8 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004538510 RCV004577955

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

NM_015102.5(NPHP4):c.2611+1G>C

SNV
Germline

Chr1:5880113

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_374141736

1 SubmittersRCV001230177

NM_014956.5(CEP164):c.552+1G>C

SNV
Germline

Chr11:117361994

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2041038603

1 SubmittersRCV001235812

NM_025114.4(CEP290):c.942+1G>C

SNV
Germline

Chr12:88128945

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039897317

2 SubmittersRCV001230885 RCV003469412

NM_025114.4(CEP290):c.251-2A>G

SNV
Germline

Chr12:88139193

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_951979448

1 SubmittersRCV001237836

NM_025114.4(CEP290):c.3573+3A>G

SNV
Germline

Chr12:88090725

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_199520739

3 SubmittersRCV001246811 RCV001829998 RCV004538521

NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro)

SNV
Germline

Chr1:5863915

Likely pathogenic

Nephronophthisis 4

Criteria Provided
Single Submitter

rs_765043646

1 SubmittersRCV001281250

NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe)

SNV
Germline

Chr3:132699934

Conflicting classifications of pathogenicity

Nephronophthisis
Nephronophthisis 3

Criteria Provided
Conflicting Classifications

rs_1939561839

2 SubmittersRCV002570441 RCV001281191

NM_025132.4(WDR19):c.1442A>G (p.His481Arg)

SNV
Germline

Chr4:39218068

Likely pathogenic

Nephronophthisis 13
Saldino-Mainzer syndrome
Asphyxiating thoracic dystrophy 5

Criteria Provided
Single Submitter

rs_1729264976

3 SubmittersRCV001281113 RCV001290087 RCV002251760

NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter)

SNV
Germline

Chr4:39234845

Pathogenic

Nephronophthisis 13

Criteria Provided
Single Submitter

rs_1731221844

1 SubmittersRCV001281115

NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)

SNV
Germline

Chr8:93765450

Likely pathogenic

Nephronophthisis 11

Criteria Provided
Single Submitter

rs_1813039419

1 SubmittersRCV001281328

NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)

SNV
Germline

Chr9:100264841

Pathogenic/Likely pathogenic

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_149055711

3 SubmittersRCV001281145 RCV002570439

NM_015102.5(NPHP4):c.1956-2A>C

SNV
Germline

Chr1:5904806

Pathogenic

Nephronophthisis 4

Criteria Provided
Single Submitter

rs_1271993311

1 SubmittersRCV001281249

NM_015102.5(NPHP4):c.518-1G>C

SNV
Germline

Chr1:5961950

Pathogenic

Nephronophthisis 4

Criteria Provided
Single Submitter

rs_1650418400

1 SubmittersRCV001281252

NM_015102.5(NPHP4):c.517+1G>A

SNV
Germline

Chr1:5967298

Pathogenic

Nephronophthisis 4

Criteria Provided
Single Submitter

rs_1419875412

1 SubmittersRCV001281251

NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)

SNV
Germline

Chr12:88079127

Pathogenic

Encephalocele
Polycystic kidney disease
Severe hydrocephalus
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_774410421

3 SubmittersRCV001257363 RCV001382992 RCV004570649

NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2036824785

3 SubmittersRCV001390760 RCV003120515 RCV003469489

NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)

SNV
Germline

Chr1:5947148

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1430741326

2 SubmittersRCV001328316

NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)

SNV
Germline

Chr3:132699410

Likely pathogenic

Nephronophthisis
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_760831781

3 SubmittersRCV001328312 RCV001797833

NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)

SNV
Germline

Chr6:135433047

Pathogenic

Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_766069291

2 SubmittersRCV001328118 RCV002537719

NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)

SNV
Germline

Chr11:117395625

Pathogenic/Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_1323529877

3 SubmittersRCV001280877

NM_014956.5(CEP164):c.4286+1G>T

SNV
Germline

Chr11:117411918

Pathogenic

Nephronophthisis 15

No Assertion Criteria Provided

rs_2047400808

1 SubmittersRCV001280878

NM_024753.5(TTC21B):c.2942G>A (p.Arg981His)

SNV
Germline

Chr2:165898694

Conflicting classifications of pathogenicity

Nephronophthisis 12
Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_142022626

3 SubmittersRCV001281674 RCV001586105 RCV002069498

NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

rs_1292516576

4 SubmittersRCV001283851 RCV002541764 RCV003135916 RCV003989669

NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro)

SNV
Germline

Chr9:98784131

Likely pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

rs_1834431706

1 SubmittersRCV001290404

NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala)

SNV
Germline

Chr9:98784127

Likely pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

rs_1834431047

1 SubmittersRCV001290405

NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)

SNV
Germline

Chr3:132689152

Pathogenic/Likely pathogenic

Nephronophthisis 3
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1281725083

4 SubmittersRCV001553789 RCV001863162 RCV002246283 RCV003336373

NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter)

SNV
Germline

Chr2:165913576

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_748663904

2 SubmittersRCV001291578 RCV002543015

NM_015102.5(NPHP4):c.674-3C>T

SNV
Germline

Chr1:5952839

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_1000557946

2 SubmittersRCV001295344 RCV004531076

NM_001128178.3(NPHP1):c.69+4T>C

SNV
Germline

Chr2:110204896

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP1-related disorder

Criteria Provided
Conflicting Classifications

rs_570913772

2 SubmittersRCV001294502 RCV004545187

NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)

SNV
Germline

Chr2:165911410

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4

Criteria Provided
Conflicting Classifications

rs_763158250

3 SubmittersRCV001308837 RCV001760370 RCV002486207

NM_014956.5(CEP164):c.547A>G (p.Met183Val)

SNV
Germline

Chr11:117361988

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749917447

2 SubmittersRCV001306868 RCV004034110

NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln)

SNV
Germline

Chr11:117387205

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757579833

2 SubmittersRCV001303336 RCV002539520

NM_022098.4(XPNPEP3):c.1040G>A (p.Trp347Ter)

SNV
Germline

Chr22:40914309

Pathogenic

Nephronophthisis-like nephropathy 1

No Assertion Criteria Provided

rs_2058187525

1 SubmittersRCV001310283

NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn)

SNV
Germline

Chr1:5969118

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_763993912

2 SubmittersRCV001312631 RCV003284170

NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)

SNV
Germline

Chr4:39244290

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

rs_138364911

2 SubmittersRCV001313901 RCV002476453

NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter)

SNV
Germline

Chr11:117394389

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_377597884

1 SubmittersRCV001314234

NM_014956.5(CEP164):c.2760+1G>T

SNV
Germline

Chr11:117394494

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_1269878493

1 SubmittersRCV001318691

NM_014956.5(CEP164):c.3749-2A>G

SNV
Germline

Chr11:117409616

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_1482717760

2 SubmittersRCV001319267

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

SNV
Germline

Chr2:110131733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_547352656

3 SubmittersRCV001332330 RCV001382647 RCV001536104

NM_153240.5(NPHP3):c.2570+1G>T

SNV
Germline

Chr3:132691191

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1322038132

2 SubmittersRCV001572114 RCV002546393

NM_153240.5(NPHP3):c.2112T>C (p.Cys704=)

SNV
Germline

Chr3:132696790

Conflicting classifications of pathogenicity

NPHP3-related Meckel-like syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_761833505

2 SubmittersRCV001330460 RCV002546392

NM_173551.5(ANKS6):c.907+2T>A

SNV
Unknown

Chr9:98784830

Pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

rs_1438673595

1 SubmittersRCV001333047

NM_025114.4(CEP290):c.2217+2T>C

SNV
Germline

Chr12:88111692

Likely pathogenic

Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2038702746

2 SubmittersRCV001330036 RCV001863212

NM_024753.5(TTC21B):c.2550G>A (p.Ala850=)

SNV
Germline

Chr2:165907696

Conflicting classifications of pathogenicity

Nephronophthisis 12
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_144151561

2 SubmittersRCV001336666 RCV002070211

NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)

SNV
Germline

Chr12:88089127

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_774705706

1 SubmittersRCV001387506

NM_014994.3(MAPKBP1):c.1585+15C>T

SNV
Germline

Chr15:41816665

Conflicting classifications of pathogenicity

Nephronophthisis 20
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_546384224

2 SubmittersRCV001334798 RCV002070191

NM_178170.3(NEK8):c.972C>G (p.Pro324=)

SNV
Germline

Chr17:28737901

Conflicting classifications of pathogenicity

Renal-hepatic-pancreatic dysplasia 2
Nephronophthisis 9

Criteria Provided
Conflicting Classifications

rs_779393817

2 SubmittersRCV001333669 RCV002546645

NM_014956.5(CEP164):c.1934+1G>A

SNV
Germline

Chr11:117387413

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_951827564

1 SubmittersRCV001352557

NM_014956.5(CEP164):c.3089+6G>A

SNV
Germline

Chr11:117395728

Conflicting classifications of pathogenicity

Nephronophthisis 15
CEP164-related disorder

Criteria Provided
Conflicting Classifications

rs_374896228

2 SubmittersRCV001343991 RCV003898328

NM_001379286.1(ZNF423):c.2268G>T (p.Lys756Asn)

SNV
Germline

Chr16:49636908

Conflicting classifications of pathogenicity

Nephronophthisis 14
not specified

Criteria Provided
Conflicting Classifications

rs_750555513

2 SubmittersRCV001340125 RCV004035923

NM_001379286.1(ZNF423):c.146C>T (p.Ala49Val)

SNV
Germline

Chr16:49730926

Conflicting classifications of pathogenicity

Nephronophthisis 14
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_147379553

3 SubmittersRCV001337389 RCV003405567 RCV004035830

NM_015102.5(NPHP4):c.674-8T>G

SNV
Germline

Chr1:5952844

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_772596216

2 SubmittersRCV001365095 RCV004545215

NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)

SNV
Germline

Chr2:110123818

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_151120697

2 SubmittersRCV001371820 RCV002488174

NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)

SNV
Germline

Chr2:165917273

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Inborn genetic diseases
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_139653847

3 SubmittersRCV001372815 RCV002548665 RCV002488179

NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)

SNV
Germline

Chr11:117338596

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765277720

3 SubmittersRCV001374266 RCV003229052

NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr11:117361892

Pathogenic/Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_149195472

2 SubmittersRCV001361797

NM_014956.5(CEP164):c.553-1G>A

SNV
Germline

Chr11:117362403

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2041099865

1 SubmittersRCV001371877

NM_014956.5(CEP164):c.688-2A>C

SNV
Germline

Chr11:117363427

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_370034077

1 SubmittersRCV001372343

NM_014956.5(CEP164):c.1724+1G>A

SNV
Germline

Chr11:117382943

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_1489883516

2 SubmittersRCV001369400

NM_025114.4(CEP290):c.3310-5C>A

SNV
Germline

Chr12:88092837

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2137345196

2 SubmittersRCV001361154 RCV001762620

NM_015102.5(NPHP4):c.3473-1G>T

SNV
Germline

Chr1:5867116

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_564232197

1 SubmittersRCV001379646

NM_153240.5(NPHP3):c.2311-1G>C

SNV
Germline

Chr3:132692819

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1363032805

1 SubmittersRCV001376909

NM_153240.5(NPHP3):c.1628+2T>A

SNV
Germline

Chr3:132701428

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1277862520

1 SubmittersRCV001378465

NM_014425.5(INVS):c.2786+1G>A

SNV
Germline

Chr9:100293044

Pathogenic/Likely pathogenic

Nephronophthisis
Infantile nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_935629850

2 SubmittersRCV001378836 RCV002504632

NM_025114.4(CEP290):c.6357+1G>A

SNV
Germline

Chr12:88062691

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_1196938557

1 SubmittersRCV001378757

NM_025114.4(CEP290):c.5586+1G>T

SNV
Germline

Chr12:88077696

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2035880971

1 SubmittersRCV001377792

NM_025114.4(CEP290):c.3309+2T>C

SNV
Germline

Chr12:88093768

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1007902545

2 SubmittersRCV001379336 RCV003469638

NM_025114.4(CEP290):c.943-1G>C

SNV
Germline

Chr12:88126439

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2138025029

1 SubmittersRCV001378660

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

rs_376492641

5 SubmittersRCV001390765 RCV001820089 RCV003469780

NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr2:165919404

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_779134983

2 SubmittersRCV001382361 RCV002493924

NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter)

SNV
Germline

Chr3:132692742

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2107971687

1 SubmittersRCV001383312

NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter)

SNV
Germline

Chr3:132699427

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_919854764

1 SubmittersRCV001382434

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1374014119

2 SubmittersRCV001384498 RCV002493927

NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)

SNV
Germline

Chr12:88049337

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_775189201

2 SubmittersRCV001383766 RCV003469701

NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)

SNV
Germline

Chr12:88054380

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_1414041522

1 SubmittersRCV001390986

NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)

SNV
Germline

Chr12:88071364

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_767426153

2 SubmittersRCV001388961 RCV003469749

NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)

SNV
Germline

Chr12:88080211

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1367899236

1 SubmittersRCV001384921

NM_025114.4(CEP290):c.4195-1G>T

SNV
Germline

Chr12:88086499

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_751807811

1 SubmittersRCV001388146

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis
Condition: not provided
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_779645669

4 SubmittersRCV001381486 RCV001836389 RCV003156344 RCV002476720

NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)

SNV
Germline

Chr12:88089136

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2036816455

2 SubmittersRCV001382323 RCV003469675

NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)

SNV
Germline

Chr12:88089139

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1417251616

2 SubmittersRCV001385692 RCV004531195

NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)

SNV
Germline

Chr12:88092808

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2137344539

1 SubmittersRCV001388128

NM_025114.4(CEP290):c.3310-2A>G

SNV
Germline

Chr12:88092834

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2137345150

1 SubmittersRCV001383617

NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)

SNV
Germline

Chr12:88096969

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2037477197

1 SubmittersRCV001382107

NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)

SNV
Germline

Chr12:88111315

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2137711696

1 SubmittersRCV001382457

NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)

SNV
Germline

Chr12:88114485

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2038919221

2 SubmittersRCV001383423 RCV003469695

NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)

SNV
Germline

Chr12:88125270

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2138000998

1 SubmittersRCV001389479

NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr12:88126321

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138021345

2 SubmittersRCV001386120 RCV003469719

NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr12:88130405

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039993548

2 SubmittersRCV001387371 RCV003469732

NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)

SNV
Germline

Chr12:88136729

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2138215835

1 SubmittersRCV001384356

NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr12:88136777

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_752144368

2 SubmittersRCV001386072 RCV003469718

NM_016122.3(CEP83):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr12:94378949

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_750092874

1 SubmittersRCV001385312

NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp)

SNV
Germline

Chr2:165883814

Likely pathogenic

Nephronophthisis 12

Criteria Provided
Single Submitter

rs_749330118

1 SubmittersRCV001391113

NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)

SNV
Germline

Chr3:132682758

Likely pathogenic

Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_775281384

2 SubmittersRCV001391120 RCV002476735

NM_025114.4(CEP290):c.4195-9T>C

SNV
Germline

Chr12:88086507

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_546957016

2 SubmittersRCV001398908 RCV002272470

NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)

SNV
Germline

Chr12:88068537

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_766265410

2 SubmittersRCV001424404 RCV001820118

NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)

SNV
Germline

Chr12:88068590

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

rs_764861728

2 SubmittersRCV001429116 RCV001839044

NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_754184488

2 SubmittersRCV001462219 RCV004528501

NM_025114.4(CEP290):c.853-9G>A

SNV
Germline

Chr12:88129044

Conflicting classifications of pathogenicity

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_974759127

2 SubmittersRCV001458619 RCV001820151

NM_173551.5(ANKS6):c.1973-1G>A

SNV
Germline

Chr9:98768251

Likely pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

rs_1458080834

1 SubmittersRCV001530176

NM_015102.5(NPHP4):c.3644+1G>T

SNV
Germline

Chr1:5866372

Pathogenic/Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_756111113

2 SubmittersRCV001536003 RCV001882599

NM_015102.5(NPHP4):c.1504-1G>A

SNV
Unknown

Chr1:5907223

Likely pathogenic

Nephronophthisis 4
Senior-Loken syndrome 4

Criteria Provided
Single Submitter

rs_1204924769

1 SubmittersRCV001535885

NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter)

SNV
Unknown

Chr2:165888398

Likely pathogenic

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Single Submitter

rs_1685080096

1 SubmittersRCV001536086

NM_024753.5(TTC21B):c.3102-2A>G

SNV
Germline

Chr2:165890642

Likely pathogenic

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_779472675

2 SubmittersRCV001535854 RCV003771652

NM_024753.5(TTC21B):c.1386+1G>T

SNV
Germline

Chr2:165929134

Likely pathogenic

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_764514397

2 SubmittersRCV001535953 RCV002568923

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138086844

4 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860

NM_173854.6(SLC41A1):c.698G>T (p.Gly233Val)

SNV
Germline

Chr1:205798815

Pathogenic

Nephronophthisis-like nephropathy 2

No Assertion Criteria Provided

rs_2102504055

1 SubmittersRCV001554331

NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)

SNV
Germline

Chr4:39244311

Pathogenic/Likely pathogenic

Cone dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_775181779

3 SubmittersRCV001591895 RCV002501946 RCV002571163

NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)

SNV
Germline

Chr2:165890967

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_141708554

3 SubmittersRCV001597548 RCV002488438 RCV002592516

NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)

SNV
Germline

Chr9:100240197

Pathogenic

Infantile nephronophthisis

Criteria Provided
Single Submitter

rs_2118494165

2 SubmittersRCV001780423

NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)

SNV
Germline

Chr2:165949483

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_376163622

3 SubmittersRCV001665442 RCV001882754 RCV002506712

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_2137170380

2 SubmittersRCV001859437 RCV002227536 RCV001724852

NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=)

SNV
Germline

Chr2:165890598

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_762837601

2 SubmittersRCV001760605 RCV001882878

NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)

SNV
Germline

Chr12:88093912

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1267970567

3 SubmittersRCV001780761 RCV003470909 RCV002544259

NM_015102.5(NPHP4):c.518-2A>G

SNV
Germline

Chr1:5961951

Likely pathogenic

Condition: not provided
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_761142233

2 SubmittersRCV001782537 RCV002034603

NM_014425.5(INVS):c.796+5G>A

SNV
Germline

Chr9:100240245

Conflicting classifications of pathogenicity

Infantile nephronophthisis
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1272619479

2 SubmittersRCV001805762 RCV003748363

NM_016122.3(CEP83):c.1056G>A (p.Gln352=)

SNV
Germline

Chr12:94368194

Conflicting classifications of pathogenicity

not specified
Nephronophthisis 18

Criteria Provided
Conflicting Classifications

rs_1370476857

2 SubmittersRCV001817242 RCV002542518

NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg)

SNV
Germline

Chr3:64686890

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_192420947

3 SubmittersRCV001849641 RCV002543431

NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)

SNV
Germline

Chr2:165930221

Pathogenic

Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Single Submitter

rs_2105344578

2 SubmittersRCV001849653 RCV002489903

NM_014956.5(CEP164):c.2844+5G>C

SNV
Germline

Chr11:117395008

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2136434803

2 SubmittersRCV002034827 RCV002049734

NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr12:88096978

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2037478393

1 SubmittersRCV001917076

NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)

SNV
Germline

Chr12:88049360

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2136547054

1 SubmittersRCV001997322

NM_153240.5(NPHP3):c.2172-2A>G

SNV
Germline

Chr3:132694967

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_547310372

1 SubmittersRCV002004224

NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu)

SNV
Germline

Chr11:117410837

Conflicting classifications of pathogenicity

Nephronophthisis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148116542

2 SubmittersRCV001939846 RCV003401871

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

SNV
Germline

Chr2:110201460

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368025611

3 SubmittersRCV001913820 RCV002555758 RCV003134231

NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)

SNV
Germline

Chr2:165919375

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_199559023

1 SubmittersRCV001931706

NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)

SNV
Germline

Chr12:88058897

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2136704614

1 SubmittersRCV001962676

NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter)

SNV
Germline

Chr12:94333528

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_1162641847

1 SubmittersRCV001866359

NM_025114.4(CEP290):c.2483+1G>A

SNV
Germline

Chr12:88109065

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2137661795

1 SubmittersRCV002015044

NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)

SNV
Germline

Chr2:165949625

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776138424

3 SubmittersRCV001878223 RCV002482480 RCV004039609

NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)

SNV
Germline

Chr2:165929249

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_533077805

2 SubmittersRCV001902665 RCV002490121

NM_153240.5(NPHP3):c.393+1G>C

SNV
Germline

Chr3:132721962

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_754332448

1 SubmittersRCV001959484

NM_024753.5(TTC21B):c.152-1G>A

SNV
Germline

Chr2:165949505

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_371396651

1 SubmittersRCV001959531

NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr12:88121038

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2137917114

1 SubmittersRCV001902894

NM_015102.5(NPHP4):c.2091C>T (p.Gly697=)

SNV
Germline

Chr1:5904669

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_531162424

2 SubmittersRCV001887342 RCV004542160

NM_016122.3(CEP83):c.550-1G>A

SNV
Germline

Chr12:94379043

Likely pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_1555237944

1 SubmittersRCV001974117

NM_001023570.4(IQCB1):c.393+1G>C

SNV
Germline

Chr3:121826050

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1226321871

1 SubmittersRCV001984251

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_763226787

4 SubmittersRCV002027685 RCV003226528 RCV002498073 RCV003471280

NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)

SNV
Germline

Chr12:88055695

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2136656497

1 SubmittersRCV001945145

NM_014956.5(CEP164):c.1457G>A (p.Arg486His)

SNV
Germline

Chr11:117381748

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_545471229

2 SubmittersRCV002032262 RCV004044877

NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)

SNV
Germline

Chr12:88117059

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137836218

1 SubmittersRCV001999893

NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr3:121828555

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_776023179

1 SubmittersRCV002037700

NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)

SNV
Germline

Chr12:88058963

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1375836634

2 SubmittersRCV001941643 RCV003471149

NM_015102.5(NPHP4):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr1:5978374

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_753774833

1 SubmittersRCV001941650

NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter)

SNV
Germline

Chr11:117390838

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2136318333

1 SubmittersRCV001939395

NM_014956.5(CEP164):c.765+1G>A

SNV
Germline

Chr11:117363507

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2041251614

1 SubmittersRCV001994202

NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)

SNV
Germline

Chr2:165890630

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_2105291727

1 SubmittersRCV001951824

NM_022098.4(XPNPEP3):c.1055+2T>G

SNV
Germline

Chr22:40914326

Likely pathogenic

Nephronophthisis-like nephropathy 1

Criteria Provided
Single Submitter

rs_769010051

1 SubmittersRCV002033772

NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)

SNV
Germline

Chr2:165890611

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140908725

4 SubmittersRCV001936014 RCV002484516 RCV003151870 RCV004043555

NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter)

SNV
Germline

Chr2:165911451

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_1559053862

1 SubmittersRCV001907441

NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)

SNV
Germline

Chr2:165929144

Pathogenic/Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1183062277

2 SubmittersRCV001937154 RCV002503420

NM_024753.5(TTC21B):c.1087+1G>A

SNV
Germline

Chr2:165930171

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_776301212

2 SubmittersRCV001977593 RCV002492195

NM_024753.5(TTC21B):c.1516+2T>G

SNV
Germline

Chr2:165924547

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_748598334

1 SubmittersRCV002033231

NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter)

SNV
Germline

Chr2:165901787

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_1685569880

1 SubmittersRCV001949256

NM_014956.5(CEP164):c.2066+1G>A

SNV
Germline

Chr11:117390909

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_1279037770

1 SubmittersRCV002035194

NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter)

SNV
Germline

Chr1:5873285

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_763668545

1 SubmittersRCV001888238

NM_015102.5(NPHP4):c.3231+1G>A

SNV
Germline

Chr1:5874470

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1642345798

1 SubmittersRCV001964323

NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)

SNV
Germline

Chr11:117393019

Pathogenic/Likely pathogenic

Nephronophthisis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_774951398

2 SubmittersRCV001934553

NM_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr)

SNV
Germline

Chr2:165912536

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140824612

2 SubmittersRCV001916806 RCV002246600

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

SNV
Germline

Chr2:110164732

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

rs_773781058

3 SubmittersRCV002011188 RCV002492327 RCV003471256

NM_025114.4(CEP290):c.251-1G>C

SNV
Germline

Chr12:88139192

Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2138259162

1 SubmittersRCV002017305

NM_025114.4(CEP290):c.361G>T (p.Glu121Ter)

SNV
Germline

Chr12:88136723

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2138215714

1 SubmittersRCV001961872

NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)

SNV
Germline

Chr2:165929697

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_749794837

1 SubmittersRCV001896452

NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)

SNV
Germline

Chr12:88121109

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1269182131

2 SubmittersRCV001949664 RCV004571748

NM_025114.4(CEP290):c.3573+1G>T

SNV
Germline

Chr12:88090727

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_1339320666

1 SubmittersRCV001958976

NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter)

SNV
Germline

Chr2:165890578

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_772612775

1 SubmittersRCV002044728

NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter)

SNV
Germline

Chr12:88107025

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2038335853

1 SubmittersRCV001896199

NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)

SNV
Germline

Chr4:39278635

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

rs_763555032

2 SubmittersRCV001910564 RCV002484542

NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)

SNV
Germline

Chr3:132684587

Conflicting classifications of pathogenicity

Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
NPHP3-related Meckel-like syndrome

Criteria Provided
Conflicting Classifications

rs_761585621

2 SubmittersRCV001996705 RCV002479557

NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter)

SNV
Germline

Chr12:88102927

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1592574519

1 SubmittersRCV002004621

NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)

SNV
Germline

Chr12:88064064

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2136814350

1 SubmittersRCV001894546

NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)

SNV
Germline

Chr12:88090808

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2036977924

2 SubmittersRCV002035322 RCV003471118

NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)

SNV
Germline

Chr2:165949484

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_771232897

1 SubmittersRCV001993350

NM_025114.4(CEP290):c.3573+1G>C

SNV
Germline

Chr12:88090727

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1339320666

1 SubmittersRCV002006928

NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr12:88126396

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2138023519

1 SubmittersRCV002000210

NM_016122.3(CEP83):c.499G>T (p.Glu167Ter)

SNV
Germline

Chr12:94400900

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_2137575733

1 SubmittersRCV002002375

NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)

SNV
Germline

Chr12:88120231

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1361189290

1 SubmittersRCV001994798

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

SNV
Germline

Chr2:110163063

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1328879943

1 SubmittersRCV002035279

NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)

SNV
Germline

Chr11:117371216

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769627423

3 SubmittersRCV001924332 RCV004044263

NM_024753.5(TTC21B):c.711-2A>C

SNV
Germline

Chr2:165933059

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_1686972152

1 SubmittersRCV002024501

NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)

SNV
Germline

Chr2:165911432

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4

Criteria Provided
Conflicting Classifications

rs_202087501

2 SubmittersRCV001866492 RCV002482458

NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)

SNV
Germline

Chr1:5867754

Pathogenic/Likely pathogenic

Nephronophthisis
Nephronophthisis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100466824

2 SubmittersRCV001897546 RCV003448426

NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)

SNV
Germline

Chr12:88129816

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2138086329

1 SubmittersRCV001993385

NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter)

SNV
Germline

Chr11:117381735

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2136139535

1 SubmittersRCV001942109

NM_015102.5(NPHP4):c.2611C>T (p.Arg871Ter)

SNV
Germline

Chr1:5880114

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2100733826

1 SubmittersRCV001942179

NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter)

SNV
Germline

Chr2:165901907

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_895624584

1 SubmittersRCV001917908

NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter)

SNV
Germline

Chr12:94333608

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_777412559

1 SubmittersRCV001925052

NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter)

SNV
Germline

Chr12:94368085

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_2061111812

1 SubmittersRCV001933612

NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)

SNV
Germline

Chr3:132682740

Pathogenic/Likely pathogenic

Nephronophthisis
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_758716466

4 SubmittersRCV001941971 RCV002492123 RCV002471202

NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)

SNV
Germline

Chr12:88060913

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_1234975160

1 SubmittersRCV001942017

NM_025114.4(CEP290):c.2367+2T>C

SNV
Germline

Chr12:88111200

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137707354

1 SubmittersRCV001994352

NM_001023570.4(IQCB1):c.588-2A>G

SNV
Germline

Chr3:121799376

Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1250919247

2 SubmittersRCV002027849 RCV003471283

NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)

SNV
Germline

Chr8:93786321

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis 11
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_778155409

3 SubmittersRCV001920653 RCV003152777 RCV004529044

NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr1:5905311

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2101131514

1 SubmittersRCV001920754

NM_024753.5(TTC21B):c.1185G>A (p.Ala395=)

SNV
Germline

Chr2:165929650

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

rs_747042147

2 SubmittersRCV001986722 RCV004543677

NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter)

SNV
Germline

Chr11:117395688

Pathogenic

Nephronophthisis 15
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746453731

3 SubmittersRCV001879106 RCV003154207

NM_025114.4(CEP290):c.2368-1G>T

SNV
Germline

Chr12:88109182

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2137665576

1 SubmittersRCV001929413

NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter)

SNV
Germline

Chr12:88083954

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137170285

1 SubmittersRCV002002548

NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)

SNV
Germline

Chr12:88071782

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2035393800

1 SubmittersRCV001939333

NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter)

SNV
Germline

Chr3:121828596

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2108643223

1 SubmittersRCV001960504

NM_025114.4(CEP290):c.942+1G>A

SNV
Germline

Chr12:88128945

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2039897317

1 SubmittersRCV002016508

NM_153240.5(NPHP3):c.2171+1G>A

SNV
Germline

Chr3:132696730

Likely pathogenic

Nephronophthisis
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1280230808

2 SubmittersRCV002050529 RCV002503351

NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter)

SNV
Germline

Chr2:165929175

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_769816345

1 SubmittersRCV001951217

NM_025114.4(CEP290):c.1065+1G>C

SNV
Germline

Chr12:88126315

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2138021203

1 SubmittersRCV002020667

NM_025114.4(CEP290):c.6961-1G>T

SNV
Germline

Chr12:88054414

Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136637204

2 SubmittersRCV002030172 RCV004536360

NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)

SNV
Germline

Chr12:88083896

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_760653238

2 SubmittersRCV001913188 RCV004571578

NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)

SNV
Germline

Chr12:88130276

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2138093974

1 SubmittersRCV001936519

NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)

SNV
Germline

Chr12:88102942

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1180594304

2 SubmittersRCV001951020 RCV003471170

NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_886042467

1 SubmittersRCV001905654

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

SNV
Germline

Chr2:110201420

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_745806504

3 SubmittersRCV001970457 RCV002497908 RCV003471207

NM_025114.4(CEP290):c.181-1G>A

SNV
Germline

Chr12:88139565

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_281865190

1 SubmittersRCV001991357

NM_153240.5(NPHP3):c.2694-2A>T

SNV
Germline

Chr3:132689265

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1395411307

1 SubmittersRCV002031859

NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr12:94310052

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_1198459012

1 SubmittersRCV001932813

NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)

SNV
Germline

Chr12:88071343

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2035358840

2 SubmittersRCV001942295 RCV003471165

NM_025114.4(CEP290):c.4812+1G>A

SNV
Germline

Chr12:88083846

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_2137167420

1 SubmittersRCV001995863

NM_014956.5(CEP164):c.548T>C (p.Met183Thr)

SNV
Germline

Chr11:117361989

Conflicting classifications of pathogenicity

Nephronophthisis 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144206271

2 SubmittersRCV001901326 RCV003375426

NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)

SNV
Germline

Chr12:88084639

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_746305733

2 SubmittersRCV001898905 RCV003471029

NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter)

SNV
Germline

Chr3:121799361

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2108571563

1 SubmittersRCV001931581

NM_025114.4(CEP290):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:88141305

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_773525033

1 SubmittersRCV001956388

NM_001023570.4(IQCB1):c.101-1G>A

SNV
Germline

Chr3:121828633

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1372024420

1 SubmittersRCV002030541

NM_024753.5(TTC21B):c.895-1G>A

SNV
Germline

Chr2:165930365

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_773008707

1 SubmittersRCV002001160

NM_015102.5(NPHP4):c.992+2T>C

SNV
Germline

Chr1:5948068

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_746243637

1 SubmittersRCV002001257

NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)

SNV
Germline

Chr12:88083218

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_2137156392

1 SubmittersRCV001956092

NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr12:88139555

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

rs_1166981120

1 SubmittersRCV001972739

NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr22:40869019

Pathogenic

Nephronophthisis-like nephropathy 1

Criteria Provided
Single Submitter

rs_373917063

1 SubmittersRCV001945492

NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)

SNV
Germline

Chr12:88077299

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_2137050478

1 SubmittersRCV001969840

NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087933

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137251821

1 SubmittersRCV001953690

NM_014956.5(CEP164):c.2284-1G>A

SNV
Germline

Chr11:117392225

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_1391874809

1 SubmittersRCV002038106

NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter)

SNV
Germline

Chr3:132684685

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2107963367

1 SubmittersRCV001886051

NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter)

SNV
Germline

Chr12:88083098

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137152484

1 SubmittersRCV001963182

NM_025114.4(CEP290):c.4194+2T>A

SNV
Germline

Chr12:88087778

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

rs_2137247685

1 SubmittersRCV002006563

NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter)

SNV
Germline

Chr11:117396073

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2136466034

1 SubmittersRCV001883864

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

SNV
Germline

Chr2:110168477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373951297

3 SubmittersRCV002049316 RCV002489940 RCV002545704

NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)

SNV
Germline

Chr12:88111771

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1440259390

2 SubmittersRCV001906982 RCV003471033

NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)

SNV
Germline

Chr2:165883847

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767696555

3 SubmittersRCV001937707 RCV002478350 RCV004042735

NM_024753.5(TTC21B):c.1046C>A (p.Thr349Asn)

SNV
Germline

Chr2:165930213

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753999114

2 SubmittersRCV001889214 RCV002553539

NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter)

SNV
Germline

Chr1:5952825

Pathogenic

Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_780268322

2 SubmittersRCV001940801

NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter)

SNV
Germline

Chr2:165890863

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_2105291990

1 SubmittersRCV001975032

NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)

SNV
Germline

Chr3:121781820

Pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_867772426

2 SubmittersRCV001956492 RCV003475250

NM_015102.5(NPHP4):c.2626C>T (p.Gln876Ter)

SNV
Germline

Chr1:5877284

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_2100678099

1 SubmittersRCV001975084

NM_014956.5(CEP164):c.194+15G>T

SNV
Germline

Chr11:117344292

Conflicting classifications of pathogenicity

Nephronophthisis 15

Criteria Provided
Conflicting Classifications

rs_1423887740

2 SubmittersRCV002030688

NM_014425.5(INVS):c.2068+2T>C

SNV
Germline

Chr9:100284605

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_777556837

1 SubmittersRCV002046047

NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter)

SNV
Germline

Chr2:165899820

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1489728717

1 SubmittersRCV002042111

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

rs_1458494785

3 SubmittersRCV001960023 RCV004538648 RCV004577005

NM_015102.5(NPHP4):c.452+1G>T

SNV
Germline

Chr1:5969086

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_1195128294

1 SubmittersRCV002023725

NM_014956.5(CEP164):c.766-2A>G

SNV
Germline

Chr11:117371078

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2135912935

1 SubmittersRCV002015797

NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr12:88129804

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2138085855

1 SubmittersRCV001929705

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

SNV
Germline

Chr2:110164551

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779083426

2 SubmittersRCV001942594 RCV003355582

NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter)

SNV
Germline

Chr12:88089331

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137277291

1 SubmittersRCV001914219

NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)

SNV
Germline

Chr12:88084613

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

rs_2137182509

1 SubmittersRCV001979757

NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter)

SNV
Germline

Chr12:94331786

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

rs_2136488957

1 SubmittersRCV001979772

NM_014956.5(CEP164):c.2616+1G>A

SNV
Germline

Chr11:117393127

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

rs_2136378484

1 SubmittersRCV002039923

NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter)

SNV
Germline

Chr12:88093874

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_2137365958

1 SubmittersRCV001909306

NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)

SNV
Germline

Chr2:165930289

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762885961

5 SubmittersRCV001955148 RCV002479500 RCV002561508 RCV002243486

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

SNV
Germline

Chr2:110131704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1266229950

2 SubmittersRCV001984761 RCV002484661

NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr9:100252390

Pathogenic

Nephronophthisis
Infantile nephronophthisis
INVS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_773049314

3 SubmittersRCV001876509 RCV002482466 RCV003911056

NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)

SNV
Germline

Chr2:165888323

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_201162086

2 SubmittersRCV001957724 RCV002492026

NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys)

SNV
Germline

Chr2:165880777

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144130537

2 SubmittersRCV001983918 RCV002511122

NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)

SNV
Germline

Chr4:39268052

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1401145684

2 SubmittersRCV001890451 RCV002503474

NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter)

SNV
Germline

Chr3:132688790

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

rs_777768843

1 SubmittersRCV001940054

NM_025114.4(CEP290):c.943-1G>A

SNV
Germline

Chr12:88126439

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

rs_2138025029

1 SubmittersRCV001980914

NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)

SNV
Germline

Chr12:88083123

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_1330745435

2 SubmittersRCV002135039 RCV003889054

NM_015102.5(NPHP4):c.122C>T (p.Pro41Leu)

SNV
Germline

Chr1:5986168

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

rs_754311690

2 SubmittersRCV002110477 RCV004543864

NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)

SNV
Germline

Chr12:88058892

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_2034234195

2 SubmittersRCV002197703 RCV003889030

NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His)

SNV
Germline

Chr2:165876188

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139537546

2 SubmittersRCV002205801 RCV002265061

NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)

SNV
Germline

Chr12:88077701

Pathogenic/Likely pathogenic

CEP290-related disorder
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137056192

2 SubmittersRCV002223093 RCV003089158

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

SNV
Germline

Chr2:110161692

Likely pathogenic

Nephronophthisis 1

Criteria Provided
Single Submitter

rs_2104548702

1 SubmittersRCV002226876

NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro)

SNV
Germline

Chr4:39228561

Pathogenic

Nephronophthisis 13

No Assertion Criteria Provided

rs_2109358597

1 SubmittersRCV002248394

NM_016356.5(DCDC2):c.557+1G>T

SNV
Germline

Chr6:24301714

Pathogenic

Nephronophthisis 19

Criteria Provided
Single Submitter

rs_763299947

1 SubmittersRCV002251275

NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe)

SNV
Germline

Chr3:121828871

Conflicting classifications of pathogenicity

See cases
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_1246747991

2 SubmittersRCV002252385 RCV003094138

NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)

SNV
Germline

Chr12:88107083

Pathogenic/Likely pathogenic

CEP290-related disorder
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137624440

3 SubmittersRCV002266544 RCV003774847 RCV004572105

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

SNV
Germline

Chr2:110179685

Likely pathogenic

Joubert syndrome and related disorders
Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002282819 RCV003471306 RCV003586324

NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu)

SNV
Germline

Chr2:165930267

Likely pathogenic

Nephronophthisis 12

Criteria Provided
Single Submitter

1 SubmittersRCV002287207

NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)

SNV
Germline

Chr9:98778420

Pathogenic

Nephronophthisis 16

No Assertion Criteria Provided

1 SubmittersRCV003164436

NM_173551.5(ANKS6):c.2394+1G>A

SNV
Germline

Chr9:98751028

Likely pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

2 SubmittersRCV003164437

NM_014956.5(CEP164):c.3748+2T>C

SNV
Germline

Chr11:117409030

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003052846

NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)

SNV
Germline

Chr1:5863371

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064930 RCV003269411

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

SNV
Germline

Chr2:110164731

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003068804

NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)

SNV
Germline

Chr12:88059903

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003138466 RCV003465923 RCV003062529

NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr12:88139531

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003041166

NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)

SNV
Germline

Chr9:100272955

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003058437

NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)

SNV
Germline

Chr12:88129007

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003051065

NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)

SNV
Germline

Chr3:132694919

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003065311

NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)

SNV
Germline

Chr11:117344234

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003065349

NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)

SNV
Germline

Chr2:165949710

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003077854

NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)

SNV
Germline

Chr1:5867794

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003075440

NM_015102.5(NPHP4):c.1956-3C>T

SNV
Germline

Chr1:5904807

Conflicting classifications of pathogenicity

Nephronophthisis
NPHP4-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003078113 RCV004540534

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

SNV
Germline

Chr2:110164630

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465966 RCV003088842

NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)

SNV
Germline

Chr12:88071352

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002588063 RCV004536624

NM_025114.4(CEP290):c.5709+2T>G

SNV
Germline

Chr12:88077220

Pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465972 RCV002585497

NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)

SNV
Germline

Chr12:88077699

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002591603

NM_025114.4(CEP290):c.2217+1G>T

SNV
Germline

Chr12:88111693

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002602816

NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)

SNV
Germline

Chr9:98790327

Pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

1 SubmittersRCV002615426

NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)

SNV
Germline

Chr12:88118513

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002591896 RCV004572789

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

2 SubmittersRCV002611834 RCV004070523

NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)

SNV
Germline

Chr9:98780256

Conflicting classifications of pathogenicity

Nephronophthisis 16
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002629675 RCV003318743 RCV002629676

NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter)

SNV
Germline

Chr1:5874506

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002634334

NM_153240.5(NPHP3):c.2172-2A>C

SNV
Germline

Chr3:132694967

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002637466

NM_001023570.4(IQCB1):c.394-1G>A

SNV
Germline

Chr3:121809010

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002664315

NM_025114.4(CEP290):c.853-2A>T

SNV
Germline

Chr12:88129037

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003106392

NM_014956.5(CEP164):c.1234-2A>T

SNV
Germline

Chr11:117375706

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003111940

NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)

SNV
Germline

Chr2:165901844

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003111973

NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)

SNV
Germline

Chr12:94309971

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

1 SubmittersRCV003112252

NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)

SNV
Germline

Chr3:132701527

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003108974 RCV003111793

NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)

SNV
Germline

Chr12:88086120

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002588833 RCV004534128

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

SNV
Germline

Chr2:110125682

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002576334

NM_025114.4(CEP290):c.180G>A (p.Lys60=)

SNV
Germline

Chr12:88140956

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002575491

NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)

SNV
Germline

Chr12:88089428

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002589035 RCV004545345

NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)

SNV
Germline

Chr9:100292916

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002584120

NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr12:88130350

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002577501

NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr3:132721965

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002634833

NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr12:88111720

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002635355

NM_025114.4(CEP290):c.1189+2T>C

SNV
Germline

Chr12:88125244

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002635356 RCV003465803

NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)

SNV
Germline

Chr12:94370030

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

1 SubmittersRCV002636025

NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)

SNV
Germline

Chr12:88083110

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002618037

NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)

SNV
Germline

Chr11:117409870

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002623216

NM_025114.4(CEP290):c.1910-1G>A

SNV
Germline

Chr12:88114563

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002640094 RCV004571200

NM_024753.5(TTC21B):c.2461+1G>A

SNV
Germline

Chr2:165911326

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002653191

NM_014956.5(CEP164):c.687+1G>A

SNV
Germline

Chr11:117362539

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002676044

NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)

SNV
Germline

Chr3:121799203

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002700406

NM_001023570.4(IQCB1):c.101-1G>T

SNV
Germline

Chr3:121828633

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002714861

NM_025114.4(CEP290):c.853-2A>G

SNV
Germline

Chr12:88129037

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002694938 RCV003465814

NM_024753.5(TTC21B):c.3684+1G>A

SNV
Germline

Chr2:165883793

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002671995

NM_014956.5(CEP164):c.4096+1G>C

SNV
Germline

Chr11:117409966

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002700573

NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)

SNV
Germline

Chr2:165911333

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002740663

NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)

SNV
Germline

Chr12:88117041

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002736604

NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)

SNV
Germline

Chr12:88120135

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002790672

NM_014956.5(CEP164):c.2914-1G>C

SNV
Germline

Chr11:117395546

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002800166

NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)

SNV
Germline

Chr11:117409012

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002756788

NM_015102.5(NPHP4):c.1601C>T (p.Pro534Leu)

SNV
Germline

Chr1:5907125

Conflicting classifications of pathogenicity

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002776174 RCV004064758

NM_014425.5(INVS):c.2069-1G>T

SNV
Germline

Chr9:100292325

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002761253

NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)

SNV
Germline

Chr2:165890612

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002770144

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

SNV
Germline

Chr2:110204953

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002801310

NM_025114.4(CEP290):c.5856-2A>C

SNV
Germline

Chr12:88071451

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002814606

NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)

SNV
Germline

Chr12:88131203

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002824443

NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)

SNV
Germline

Chr12:88111762

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002801954

NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)

SNV
Germline

Chr12:88087905

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002819910

NM_025114.4(CEP290):c.441+1G>C

SNV
Germline

Chr12:88136642

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002815556 RCV003464604

NM_025114.4(CEP290):c.6011+2T>G

SNV
Germline

Chr12:88071292

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002801728 RCV003465837

NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)

SNV
Germline

Chr2:165930172

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002819660

NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)

SNV
Germline

Chr12:88077726

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002819748

NM_015102.5(NPHP4):c.3700C>T (p.Gln1234Ter)

SNV
Germline

Chr1:5865218

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002810873

NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)

SNV
Germline

Chr12:88090730

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002802230

NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)

SNV
Germline

Chr11:117351836

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002846545

NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)

SNV
Germline

Chr12:88087917

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002846596

NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)

SNV
Germline

Chr3:132705801

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002847080

NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr2:165929673

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002861734

NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)

SNV
Germline

Chr12:88080271

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002862014

NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr12:88129729

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002816434

NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)

SNV
Germline

Chr9:100297126

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002829210

NM_025114.4(CEP290):c.4194+1G>C

SNV
Germline

Chr12:88087779

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002857633

NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)

SNV
Germline

Chr12:88092691

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002889123

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

SNV
Germline

Chr2:110169805

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002863746

NM_025114.4(CEP290):c.442-1G>A

SNV
Germline

Chr12:88131219

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002880883

NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)

SNV
Germline

Chr12:88080310

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002857203 RCV003465849

NM_014956.5(CEP164):c.2361+1G>A

SNV
Germline

Chr11:117392304

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002889498

NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)

SNV
Germline

Chr12:94367810

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

1 SubmittersRCV002881285

NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)

SNV
Germline

Chr3:121772614

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002848163

NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)

SNV
Germline

Chr2:165930263

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002871522

NM_014425.5(INVS):c.983G>A (p.Trp328Ter)

SNV
Germline

Chr9:100246692

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002852101

NM_015102.5(NPHP4):c.2817+1G>A

SNV
Germline

Chr1:5877092

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002852909

NM_025114.4(CEP290):c.1065+1G>A

SNV
Germline

Chr12:88126315

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV002867991

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

SNV
Germline

Chr2:110204905

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002890327

NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)

SNV
Germline

Chr3:132708146

Conflicting classifications of pathogenicity

Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002895735 RCV003427518

NM_025114.4(CEP290):c.2992-2A>C

SNV
Germline

Chr12:88097001

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002912647

NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)

SNV
Germline

Chr12:88089340

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002885198 RCV004571420

NM_024753.5(TTC21B):c.2138+1G>T

SNV
Germline

Chr2:165915200

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002899558

NM_025114.4(CEP290):c.2587-1G>T

SNV
Germline

Chr12:88106906

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002894942 RCV003465862

NM_014425.5(INVS):c.321G>A (p.Trp107Ter)

SNV
Germline

Chr9:100226109

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002895021

NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr3:121772653

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002937490

NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter)

SNV
Germline

Chr17:28741445

Pathogenic

Nephronophthisis 9

Criteria Provided
Single Submitter

1 SubmittersRCV002922544

NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr3:132719767

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002914017

NM_025114.4(CEP290):c.102+2T>A

SNV
Germline

Chr12:88141204

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002952940 RCV003465871

NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)

SNV
Germline

Chr3:132708252

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002967865

NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)

SNV
Germline

Chr11:117390886

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002993781

NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)

SNV
Germline

Chr11:117387297

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV002988558

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

SNV
Germline

Chr2:110150181

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003007858

NM_025114.4(CEP290):c.6270+2T>C

SNV
Germline

Chr12:88063979

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003010340 RCV003465892

NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)

SNV
Germline

Chr12:88106755

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003016859

NM_025114.4(CEP290):c.1711+2T>A

SNV
Germline

Chr12:88118481

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003018225

NM_025114.4(CEP290):c.6818+2T>C

SNV
Germline

Chr12:88058846

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003021281

NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)

SNV
Germline

Chr11:117394995

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003025895

NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)

SNV
Germline

Chr3:132722083

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003011574

NM_025114.4(CEP290):c.5227-2A>G

SNV
Germline

Chr12:88079231

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003009980

NM_015102.5(NPHP4):c.1804C>T (p.Gln602Ter)

SNV
Germline

Chr1:5905443

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003032098

NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)

SNV
Germline

Chr12:88055698

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
CEP290-related ciliopathy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003043024 RCV003250703 RCV003465904

NM_014956.5(CEP164):c.2283+1G>C

SNV
Germline

Chr11:117391216

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003017500

NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)

SNV
Germline

Chr12:88087850

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003023897

NM_014425.5(INVS):c.906+1G>A

SNV
Germline

Chr9:100242680

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003037949

NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)

SNV
Germline

Chr9:100273009

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003055293

NM_025114.4(CEP290):c.250+1G>A

SNV
Germline

Chr12:88139494

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003055318

NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)

SNV
Germline

Chr12:88080261

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003055543 RCV003459714

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

SNV
Germline

Chr2:110168555

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003049397

NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)

SNV
Germline

Chr12:88059005

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003039923

NM_025114.4(CEP290):c.3574-1G>A

SNV
Germline

Chr12:88089488

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003059556 RCV004572641

NM_014956.5(CEP164):c.194+2T>C

SNV
Germline

Chr11:117344279

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003046906

NM_015102.5(NPHP4):c.2773C>T (p.Gln925Ter)

SNV
Germline

Chr1:5877137

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003039616

NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)

SNV
Germline

Chr3:132700371

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003043960

NM_014956.5(CEP164):c.1409+2T>C

SNV
Germline

Chr11:117380707

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003052213

NM_153240.5(NPHP3):c.3201+2T>G

SNV
Germline

Chr3:132687149

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003036844

NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)

SNV
Germline

Chr12:88053700

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003123526 RCV003466017 RCV003778673

NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)

SNV
Germline

Chr16:49636644

Conflicting classifications of pathogenicity

Nephronophthisis 14

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003139437

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

SNV
Unknown

Chr2:110165156

Pathogenic

Nephronophthisis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003153060

NM_022098.4(XPNPEP3):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr22:40886381

Likely pathogenic

Nephronophthisis-like nephropathy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003224900

NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)

SNV
Germline

Chr9:98768081

Likely pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

1 SubmittersRCV003228203

NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter)

SNV
Germline

Chr1:5927754

Pathogenic

Nephronophthisis 4

No Assertion Criteria Provided

1 SubmittersRCV003324646

NM_025114.4(CEP290):c.3574-2A>G

SNV
Germline

Chr12:88089489

Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003327795 RCV003777371 RCV004572932

NM_014425.5(INVS):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr9:100226113

Pathogenic

Infantile nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003335871

NM_014425.5(INVS):c.778C>T (p.His260Tyr)

SNV
Germline

Chr9:100240222

Likely pathogenic

Infantile nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003335872

NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)

SNV
Germline

Chr4:39215894

Likely pathogenic

Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV003388671

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

2 SubmittersRCV003471536 RCV003748496

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

SNV
Germline

Chr2:110201437

Pathogenic/Likely pathogenic

Joubert syndrome with renal defect
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463185 RCV003586427

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

2 SubmittersRCV003471545 RCV003748497

NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)

SNV
Germline

Chr12:88126342

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460391 RCV003779151

NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)

SNV
Germline

Chr12:88111767

Pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466697 RCV003779152

NM_025114.4(CEP290):c.7209+1G>A

SNV
Germline

Chr12:88050353

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466700 RCV003779153

NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)

SNV
Germline

Chr12:88083146

Pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466718 RCV003779155

NM_025114.4(CEP290):c.6270+1G>T

SNV
Germline

Chr12:88063980

Likely pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466737 RCV003779156

NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)

SNV
Germline

Chr12:88107013

Pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466742 RCV003779157

NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)

SNV
Germline

Chr12:88083164

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466746 RCV003779158

NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr12:88089073

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466759 RCV003779160

NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)

SNV
Germline

Chr3:132716832

Pathogenic

NPHP3-related Meckel-like syndrome
Nephronophthisis 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004011332 RCV004577606

NM_024753.5(TTC21B):c.752T>G (p.Met251Arg)

SNV
Germline

Chr2:165933016

Likely pathogenic

Nephronophthisis 12

Criteria Provided
Single Submitter

1 SubmittersRCV004577610

NM_024753.5(TTC21B):c.553-2A>T

SNV
Germline

Chr2:165941186

Pathogenic

Nephronophthisis 12

Criteria Provided
Single Submitter

1 SubmittersRCV004577612

NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)

SNV
Germline

Chr9:100292628

Likely pathogenic

Infantile nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003486324

NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)

SNV
Germline

Chr9:100292487

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003586512

NM_015102.5(NPHP4):c.674-2A>G

SNV
Germline

Chr1:5952838

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003586677

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

SNV
Germline

Chr2:110146751

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003586518

NM_014956.5(CEP164):c.3502-2A>G

SNV
Germline

Chr11:117407923

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003534054

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

SNV
Germline

Chr2:110179656

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003586763

NM_015102.5(NPHP4):c.2144-1G>A

SNV
Germline

Chr1:5891029

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003586880

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

SNV
Germline

Chr2:110161699

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003586822

NM_014425.5(INVS):c.1234+2T>G

SNV
Germline

Chr9:100252440

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587082

NM_014956.5(CEP164):c.3609+1G>T

SNV
Germline

Chr11:117408033

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003531421

NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)

SNV
Germline

Chr12:94368067

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

1 SubmittersRCV003585613

NM_014956.5(CEP164):c.1233+1G>A

SNV
Germline

Chr11:117373832

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003531462

NM_015102.5(NPHP4):c.1503+1G>T

SNV
Germline

Chr1:5909151

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587225

NM_015102.5(NPHP4):c.3044+1G>T

SNV
Germline

Chr1:5874873

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587375

NM_014425.5(INVS):c.448-2A>G

SNV
Germline

Chr9:100229658

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587474

NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)

SNV
Germline

Chr11:117382875

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003531642

NM_014425.5(INVS):c.907-1G>A

SNV
Germline

Chr9:100246615

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587605

NM_015102.5(NPHP4):c.279+1G>A

SNV
Germline

Chr1:5978269

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587636

NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr9:100292871

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587703

NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)

SNV
Germline

Chr12:94312996

Pathogenic

Nephronophthisis 18

Criteria Provided
Single Submitter

1 SubmittersRCV003584282

NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)

SNV
Germline

Chr9:100292579

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587616

NM_014425.5(INVS):c.274-2A>G

SNV
Germline

Chr9:100226060

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587712

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

SNV
Germline

Chr2:110169805

Likely pathogenic

Nephronophthisis
NPHP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003587865 RCV004579619

NM_014425.5(INVS):c.273+1G>A

SNV
Germline

Chr9:100126550

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003587966

NM_014425.5(INVS):c.648G>A (p.Trp216Ter)

SNV
Germline

Chr9:100240092

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003748558

NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)

SNV
Germline

Chr9:100253026

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003748535

NM_014956.5(CEP164):c.2362-1G>T

SNV
Germline

Chr11:117392495

Likely pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003648154

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

SNV
Germline

Chr2:110160215

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749378

NM_015102.5(NPHP4):c.992+1G>T

SNV
Germline

Chr1:5948069

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749831

NM_015102.5(NPHP4):c.452+1G>A

SNV
Germline

Chr1:5969086

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749579

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

SNV
Germline

Chr2:110160212

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749552

NM_014425.5(INVS):c.107-1G>A

SNV
Germline

Chr9:100126382

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003750106

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

SNV
Germline

Chr2:110204950

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749948

NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)

SNV
Germline

Chr9:100297024

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003750127

NM_178170.3(NEK8):c.1418-2A>C

SNV
Germline

Chr17:28740461

Likely pathogenic

Nephronophthisis 9

Criteria Provided
Single Submitter

1 SubmittersRCV003602515

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

SNV
Germline

Chr2:110201495

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003747988

NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)

SNV
Germline

Chr9:100252989

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003747794

NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)

SNV
Germline

Chr11:117381792

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003648726

NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter)

SNV
Germline

Chr17:28739114

Pathogenic

Nephronophthisis 9

Criteria Provided
Single Submitter

1 SubmittersRCV003600350

NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)

SNV
Germline

Chr9:100264860

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003748820

NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr22:40881838

Pathogenic

Nephronophthisis-like nephropathy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003597861

NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)

SNV
Germline

Chr9:100246746

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003748854

NM_014425.5(INVS):c.766C>T (p.Arg256Ter)

SNV
Germline

Chr9:100240210

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003748912

NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr3:121807438

Pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003749071 RCV004573275

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

SNV
Germline

Chr2:110164558

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749694

NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)

SNV
Germline

Chr9:100264822

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749675

NM_153240.5(NPHP3):c.1525-2A>G

SNV
Germline

Chr3:132701535

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003749786

NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)

SNV
Germline

Chr2:165880782

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003784387

NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)

SNV
Germline

Chr12:88120170

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003797790

NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)

SNV
Germline

Chr12:88093770

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003782818

NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)

SNV
Germline

Chr12:88080316

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003785277

NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)

SNV
Germline

Chr12:88055620

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003783591

NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr12:88093814

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003783592

NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)

SNV
Germline

Chr12:88106797

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003783593

NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr12:88107004

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003783594

NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)

SNV
Germline

Chr12:88141030

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003783595

NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr12:88083053

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003793188 RCV004573319

NM_025114.4(CEP290):c.2052+1G>A

SNV
Germline

Chr12:88114419

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003793380 RCV004573320

NM_025114.4(CEP290):c.1360-1G>C

SNV
Germline

Chr12:88120277

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003779392

NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)

SNV
Germline

Chr12:88111311

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003780009

NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)

SNV
Germline

Chr12:88080322

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003787549

NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)

SNV
Germline

Chr12:88084729

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003787889

NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)

SNV
Germline

Chr12:88064076

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003788445

NM_025114.4(CEP290):c.3103+1G>A

SNV
Germline

Chr12:88096887

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003785026

NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)

SNV
Germline

Chr12:88083127

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807799

NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)

SNV
Germline

Chr12:88084837

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003808159

NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr12:88118681

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003806084

NM_025114.4(CEP290):c.2587-1G>A

SNV
Germline

Chr12:88106906

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003808275

NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)

SNV
Germline

Chr12:88117067

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003808415

NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)

SNV
Germline

Chr12:88109094

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003791552

NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr12:88089484

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003791609

NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr12:88111717

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003805604

NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)

SNV
Germline

Chr12:88080187

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003805799

NM_025114.4(CEP290):c.516+1G>A

SNV
Germline

Chr12:88130544

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003805876

NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)

SNV
Germline

Chr12:88068581

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003805944

NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)

SNV
Germline

Chr12:88077867

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003803713

NM_025114.4(CEP290):c.2817+1G>T

SNV
Germline

Chr12:88106674

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003803920

NM_025114.4(CEP290):c.2484-2A>C

SNV
Germline

Chr12:88107100

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003801538

NM_024753.5(TTC21B):c.1088-1G>A

SNV
Germline

Chr2:165929748

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003798659

NM_025114.4(CEP290):c.441+1G>A

SNV
Germline

Chr12:88136642

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003799241

NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)

SNV
Germline

Chr12:88084714

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003799416

NM_025114.4(CEP290):c.351T>C (p.Ile117=)

SNV
Germline

Chr12:88136733

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003797651 RCV003889340

NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)

SNV
Germline

Chr12:88121124

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003802842

NM_024753.5(TTC21B):c.1900-1G>T

SNV
Germline

Chr2:165915440

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003802966

NM_024753.5(TTC21B):c.1516+1G>A

SNV
Germline

Chr2:165924548

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003803393

NM_025114.4(CEP290):c.297+1G>C

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003803606 RCV004573329

NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)

SNV
Germline

Chr12:88086092

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003809160

NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)

SNV
Germline

Chr12:88071882

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003801218

NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)

SNV
Germline

Chr12:88125272

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003796931 RCV004573326

NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:165953696

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003794756

NM_024753.5(TTC21B):c.1900-2A>G

SNV
Germline

Chr2:165915441

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003800408

NM_025114.4(CEP290):c.2052+4A>T

SNV
Germline

Chr12:88114416

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003808673

NM_025114.4(CEP290):c.4704+1G>A

SNV
Germline

Chr12:88084585

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003808696

NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)

SNV
Germline

Chr12:88106877

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003808930

NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)

SNV
Germline

Chr12:88083089

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003807043

NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr2:165901865

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003807084

NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)

SNV
Germline

Chr12:88106746

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003804787

NM_025114.4(CEP290):c.5013-1G>A

SNV
Germline

Chr12:88080396

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003801790

NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)

SNV
Germline

Chr12:88086154

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003817703

NM_025114.4(CEP290):c.372A>G (p.Leu124=)

SNV
Germline

Chr12:88136712

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003818037 RCV003889342

NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)

SNV
Germline

Chr12:88083861

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Single Submitter

1 SubmittersRCV003801663

NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)

SNV
Germline

Chr12:88089069

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003809768

NM_025114.4(CEP290):c.3573+1G>A

SNV
Germline

Chr12:88090727

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815557

NM_025114.4(CEP290):c.4812+1G>T

SNV
Germline

Chr12:88083846

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812742

NM_025114.4(CEP290):c.7130-1G>A

SNV
Germline

Chr12:88050434

Likely pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812795

NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)

SNV
Germline

Chr12:88129828

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807222

NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr12:88107028

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807247

NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)

SNV
Germline

Chr12:88093793

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003805185

NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)

SNV
Germline

Chr12:88086492

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003810213

NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr12:88129696

Pathogenic

Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003810349

NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)

SNV
Germline

Chr3:121828861

Pathogenic/Likely pathogenic

Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003811074 RCV004573339

NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)

SNV
Germline

Chr11:117387399

Pathogenic

Nephronophthisis 15

Criteria Provided
Single Submitter

1 SubmittersRCV003826144

NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)

SNV
Germline

Chr9:98783969

Pathogenic

Nephronophthisis 16

Criteria Provided
Single Submitter

1 SubmittersRCV003842929

NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)

SNV
Germline

Chr1:5865106

Likely pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003857628

NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)

SNV
Germline

Chr3:132688657

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003852160

NM_014425.5(INVS):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr9:100240108

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003874174

NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)

SNV
Germline

Chr3:132682789

Pathogenic

Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003871723

NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)

SNV
Germline

Chr9:100273018

Pathogenic

Nephronophthisis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003871774 RCV004369640

NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr6:24278070

Likely pathogenic

Nephronophthisis 19

Criteria Provided
Single Submitter

1 SubmittersRCV003988663

NM_014994.3(MAPKBP1):c.2227C>T (p.Gln743Ter)

SNV
Germline

Chr15:41818893

Likely pathogenic

Nephronophthisis 20

Criteria Provided
Single Submitter

1 SubmittersRCV003990406

NM_015102.5(NPHP4):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr1:5952717

Pathogenic

Nephronophthisis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003991280

NM_025132.4(WDR19):c.716+2T>C

SNV
Germline

Chr4:39205268

Likely pathogenic

Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV004555796