Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)	SNV Germline	Chr3:160268535	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA114705	rs_137853116	4 SubmittersRCV000001046 RCV002512630 RCV004719604
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)	SNV Germline	Chr11:103177652	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA210494	rs_137853025	4 SubmittersRCV000006873 RCV003586122
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	SNV Germline	Chr11:103304601	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA210496	rs_137853026	13 SubmittersRCV000006874 RCV000516063 RCV000726973 RCV004766983
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	SNV Germline	Chr11:103220720	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy Bowing of the long bones Narrow chest Fetal growth restriction Short rib-polydactyly syndrome DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA210499	rs_137853027	22 SubmittersRCV000006876 RCV000224348 RCV000386710 RCV000415231 RCV000292391 RCV003924807
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr)	SNV Germline	Chr11:103155476	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA210501	rs_137853028	3 SubmittersRCV000006877 RCV003586123
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)	SNV Germline	Chr11:103125197	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA210505	rs_137853030	7 SubmittersRCV000006879 RCV001851709
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	SNV Germline	Chr11:103185032	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210507	rs_137853031	7 SubmittersRCV000006880 RCV000515877 RCV000756059
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)	SNV Germline	Chr11:103209933	Pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA210509	rs_137853032	5 SubmittersRCV000006881 RCV002512856
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 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Finnish congenital nephrotic syndrome Infantile nephronophthisis Retinal dystrophy 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 RCV000763456 RCV000786982 RCV000857219 RCV001074967 RCV001003236 RCV001328175 RCV002251925 RCV004528134
NM_024753.5(TTC21B):c.2758-2A>G	SNV Germline	Chr2:165899882	Pathogenic/Likely pathogenic	Nephronophthisis 12 Infantile nephronophthisis Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12 Asphyxiating thoracic dystrophy 4	Criteria Provided Multiple Submitters No Conflicts	CA259952	rs_766132877	4 SubmittersRCV000023926 RCV000857220 RCV001852034 RCV001535927
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 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Nephronophthisis Retinitis pigmentosa 80 Saldino-Mainzer syndrome IFT140-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129889	rs_201188361	14 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV000626465 RCV001328311 RCV001249674 RCV004752723
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)	SNV Germline	Chr11:103117852	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA210579	rs_397514637	5 SubmittersRCV000033160 RCV000515863
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	SNV Germline	Chr2:19941796	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia 2 WDR35-related disorder Jeune thoracic dystrophy Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344941	rs_199952377	11 SubmittersRCV000055830 RCV000288028 RCV000515864 RCV000648351 RCV000826131 RCV001557398
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)	SNV Germline	Chr9:128634726	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 11 with or without polydactyly Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA210603	rs_587777096	5 SubmittersRCV000083288 RCV000515829 RCV000730552
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	SNV Germline	Chr16:1587961	Pathogenic/Likely pathogenic	Saldino-Mainzer syndrome Jeune thoracic dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy Saldino-Mainzer syndrome Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA149747	rs_431905521	6 SubmittersRCV000083297 RCV000515922 RCV000626469 RCV004579537 RCV004815018
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 Nephronophthisis 13 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA151414	rs_587777352	9 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001797626 RCV001212609 RCV002277157
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)	SNV Germline	Chr2:165917310	Conflicting classifications of pathogenicity	Condition: not provided not specified Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis Connective tissue disorder	Criteria Provided Conflicting Classifications	CA231579	rs_139441507	8 SubmittersRCV000118723 RCV000244338 RCV000349862 RCV000407344 RCV001080770 RCV002277178
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)	SNV Germline	Chr2:165880687	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA231581	rs_140384742	6 SubmittersRCV000118728 RCV001078717 RCV001131125 RCV001131126 RCV004529986
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)	SNV Germline	Chr11:103176255	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA233920	rs_150887098	8 SubmittersRCV000153167 RCV000167971 RCV000723911 RCV000764930 RCV003937422
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)	SNV Germline	Chr11:103154736	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy DYNC2H1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA334700	rs_185613200	4 SubmittersRCV001087629 RCV003947443 RCV000334770
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)	SNV Germline	Chr11:103109607	Conflicting classifications of pathogenicity	Condition: not provided Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA238657	rs_373977008	4 SubmittersRCV000173202 RCV000260836 RCV001094004 RCV000316090
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)	SNV Germline	Chr11:103133567	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy DYNC2H1-related disorder not specified	Criteria Provided Conflicting Classifications	CA240268	rs_369040584	4 SubmittersRCV000174699 RCV001059059 RCV003955030 RCV004700534
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)	SNV Germline	Chr11:103133606	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Short rib-polydactyly syndrome	Criteria Provided Conflicting Classifications	CA240270	rs_189533535	3 SubmittersRCV000322835 RCV000174700 RCV000270084
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)	SNV Germline	Chr2:165917459	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 12 Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA240377	rs_146320075	8 SubmittersRCV000174799 RCV000755750 RCV001078741 RCV000764280 RCV001134339 RCV004734779
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)	SNV Germline	Chr2:165913617	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA240782	rs_151309609	3 SubmittersRCV000175100 RCV000695456 RCV002485132
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)	SNV Germline	Chr2:165901892	Conflicting classifications of pathogenicity	Nephronophthisis 12 Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Condition: not provided TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA241983	rs_34489989	12 SubmittersRCV000304805 RCV000634201 RCV000398651 RCV000509503 RCV004537393
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)	SNV Germline	Chr11:103152204	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA201826	rs_201310509	4 SubmittersRCV000176169 RCV000634183 RCV001657950
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)	SNV Germline	Chr11:103153387	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Intellectual disability not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA242179	rs_200466720	8 SubmittersRCV000723955 RCV001104213 RCV001086230 RCV001251985 RCV001818424 RCV003917636
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 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Chronic kidney disease Connective tissue disorder	Criteria Provided Conflicting Classifications	CA201936	rs_146496725	12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135582 RCV001135581 RCV001171333 RCV002277374
NM_024753.5(TTC21B):c.3264-3C>G	SNV Germline	Chr2:165888477	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Nephronophthisis Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA242578	rs_189122492	6 SubmittersRCV000176591 RCV001369448 RCV002478579 RCV003333035 RCV004734788
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=)	SNV Germline	Chr11:103158741	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA242757	rs_371259464	3 SubmittersRCV000176722 RCV000340322 RCV000402861 RCV001094032
NM_001377.3(DYNC2H1):c.4386C>T (p.Asn1462=)	SNV Germline	Chr11:103160939	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA243030	rs_372442744	2 SubmittersRCV000176920 RCV002054083
NM_020800.3(IFT80):c.60G>A (p.Val20=)	SNV Germline	Chr3:160381702	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA243472	rs_201088893	3 SubmittersRCV000177320 RCV000375111 RCV001517037
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)	SNV Germline	Chr11:103222987	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA246498	rs_202071528	5 SubmittersRCV000179218 RCV002516790 RCV003907625
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 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA246806	rs_149925563	9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132639 RCV001132638 RCV004537489
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)	SNV Germline	Chr11:103236469	Conflicting classifications of pathogenicity	not specified Short rib-polydactyly syndrome Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA203365	rs_140830294	6 SubmittersRCV000179614 RCV000263282 RCV000355641 RCV003884378
NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=)	SNV Germline	Chr11:103321228	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA247876	rs_794727942	2 SubmittersRCV000180412 RCV003765105
NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=)	SNV Germline	Chr11:103323957	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA247886	rs_775505863	2 SubmittersRCV000180419 RCV002517763
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys)	SNV Germline	Chr11:103358285	Conflicting classifications of pathogenicity	Condition: not provided Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA247890	rs_202216852	6 SubmittersRCV000180421 RCV000342139 RCV000380404 RCV001308566 RCV004816311
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)	SNV Germline	Chr11:103435986	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 3 not specified	Criteria Provided Conflicting Classifications	CA247899	rs_761765709	7 SubmittersRCV000228783 RCV000486569 RCV001105946 RCV004586603
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 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA338218	rs_34925776	5 SubmittersRCV000198827 RCV000417538 RCV001134079 RCV001134078 RCV002492924 RCV004734854
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)	SNV Germline	Chr2:165941053	Pathogenic	Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA337921	rs_777162250	1 SubmittersRCV001383380
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	SNV Germline	Chr11:103177728	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Type IV short rib polydactyly syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA337424	rs_200190291	10 SubmittersRCV000197773 RCV001104104 RCV000516059 RCV000757203 RCV003155119
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)	SNV Germline	Chr11:103223030	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome Condition: not provided not specified Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA336633	rs_180787556	5 SubmittersRCV000196693 RCV000340509 RCV000756051 RCV000324546 RCV001093929
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)	SNV Germline	Chr11:103236534	Conflicting classifications of pathogenicity	not specified Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA337070	rs_200342335	6 SubmittersRCV000413384 RCV000756057 RCV001104604 RCV001086170 RCV003927852
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)	SNV Germline	Chr11:103323958	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy not specified Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA337431	rs_61737514	4 SubmittersRCV000197780 RCV000613683 RCV000285064 RCV001093935
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)	SNV Germline	Chr11:103125195	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA350469	rs_864622357	3 SubmittersRCV000206436 RCV000757201 RCV003330579
NM_001377.3(DYNC2H1):c.2702+1G>A	SNV Germline	Chr11:103143396	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA348357	rs_864622358	2 SubmittersRCV000204107 RCV003330580
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)	SNV Germline	Chr11:103155422	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA349219	rs_201194631	8 SubmittersRCV000205052 RCV000356294 RCV001094012 RCV001572773 RCV002517378 RCV004816356
NM_001377.3(DYNC2H1):c.9820-2A>G	SNV Germline	Chr11:103243691	Likely pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350533	rs_864622111	2 SubmittersRCV000206518 RCV000414269
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)	SNV Germline	Chr11:103259930	Pathogenic/Likely pathogenic	Inborn genetic diseases Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided DYNC2H1-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA358022	rs_200460601	6 SubmittersRCV000210575 RCV000799119 RCV001333710 RCV001560184 RCV004742333 RCV004816358
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter)	SNV Germline	Chr11:103135727	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA382260189	rs_755883373	2 SubmittersRCV000490314 RCV002517442
NM_001377.3(DYNC2H1):c.11650-1G>A	SNV Germline	Chr11:103316544	Pathogenic/Likely pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10581260	rs_878852996	2 SubmittersRCV000224567 RCV003765453
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	SNV Germline	Chr11:103155439	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy not specified Condition: not provided Clinodactyly of the 5th finger Cough Anomalous origin of coronary artery from the pulmonary artery Asphyxiating thoracic dystrophy 3 Optic atrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6253373	rs_189806840	16 SubmittersRCV000231556 RCV000406282 RCV000726077 RCV000735390 RCV001106985 RCV004816439 RCV004816438
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro)	SNV Germline	Chr11:103170253	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10582777	rs_878854166	2 SubmittersRCV000487201 RCV000234493
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter)	SNV Germline	Chr11:103173242	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA10582778	rs_754919042	2 SubmittersRCV000228263 RCV003454712
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 Jeune thoracic dystrophy Nephronophthisis Condition: not provided Inborn genetic diseases Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1941516	rs_149454830	7 SubmittersRCV000252032 RCV000861670 RCV001697725 RCV002518656 RCV002278217
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)	SNV Germline	Chr2:165901879	Conflicting classifications of pathogenicity	not specified Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA1941767	rs_76726265	8 SubmittersRCV000252244 RCV000861928 RCV001134204 RCV001134203 RCV001705374
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)	SNV Germline	Chr2:165915325	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Nephronophthisis Jeune thoracic dystrophy TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941956	rs_140757802	5 SubmittersRCV000516123 RCV001589274 RCV001854967 RCV004734898
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 Jeune thoracic dystrophy Nephronophthisis 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 Jeune thoracic dystrophy Nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications	CA1942274	rs_148866170	3 SubmittersRCV000250774 RCV001854968 RCV001570982
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_001377.3(DYNC2H1):c.12366+8A>G	SNV Germline	Chr11:103399880	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy Hirschsprung disease, susceptibility to, 1 not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255516	rs_200404815	5 SubmittersRCV000270085 RCV000308814 RCV000508628 RCV001820801 RCV003909898
NM_014714.4(IFT140):c.1010-1G>A	SNV Germline	Chr16:1586276	Pathogenic/Likely pathogenic	Condition: not provided Saldino-Mainzer syndrome Jeune thoracic dystrophy Retinitis pigmentosa 80 Saldino-Mainzer syndrome Retinitis pigmentosa 80 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA7814454	rs_770185023	7 SubmittersRCV000326779 RCV001055096 RCV000516131 RCV001376438 RCV002503978 RCV003155145
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 Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications	CA1941809	rs_766811699	4 SubmittersRCV000360722 RCV001134207 RCV001134208 RCV001859543 RCV002487181
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)	SNV Germline	Chr11:103153376	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6253271	rs_191381310	7 SubmittersRCV000278291 RCV000332147 RCV000389075
NM_001377.3(DYNC2H1):c.1550A>G (p.His517Arg)	SNV Germline	Chr11:103122889	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6252814	rs_375299740	3 SubmittersRCV000403421 RCV001404058 RCV004021082
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)	SNV Germline	Chr11:103184969	Conflicting classifications of pathogenicity	not specified Condition: not provided Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6254001	rs_201967064	7 SubmittersRCV000365728 RCV000757199 RCV001078688 RCV003939950
NM_001377.3(DYNC2H1):c.1935A>T (p.Ala645=)	SNV Germline	Chr11:103128987	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6252911	rs_368061315	2 SubmittersRCV000387912 RCV003586175
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)	SNV Germline	Chr11:103177774	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6253889	rs_372641908	6 SubmittersRCV000377802 RCV001459433 RCV001820808 RCV002519099
NM_001377.3(DYNC2H1):c.1249-6T>C	SNV Germline	Chr11:103120919	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6252723	rs_753712960	2 SubmittersRCV000401517 RCV002518869
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)	SNV Germline	Chr11:103188505	Conflicting classifications of pathogenicity	Condition: not provided DYNC2H1-related disorder Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6254173	rs_553516014	4 SubmittersRCV000395024 RCV003967721 RCV003748217
NM_020800.3(IFT80):c.2307C>T (p.Ser769=)	SNV Germline	Chr3:160258552	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA2684912	rs_565364572	2 SubmittersRCV000279841 RCV001452408
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His)	SNV Germline	Chr11:103156437	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253416	rs_200635842	4 SubmittersRCV000276292 RCV000333726 RCV000725495 RCV002059157
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)	SNV Germline	Chr11:103209902	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6254466	rs_370627443	6 SubmittersRCV000725554 RCV001082732 RCV001107258
NM_001377.3(DYNC2H1):c.5496G>A (p.Ser1832=)	SNV Germline	Chr11:103173243	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253775	rs_555082393	2 SubmittersRCV000260763 RCV002518978
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys)	SNV Germline	Chr11:103168908	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy not specified	Criteria Provided Conflicting Classifications	CA6253654	rs_200239560	4 SubmittersRCV000380841 RCV000820489 RCV001000057
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)	SNV Germline	Chr11:103121495	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6252780	rs_202233363	7 SubmittersRCV000289184 RCV000860672 RCV001105762 RCV001718586 RCV003940047
NM_001377.3(DYNC2H1):c.10713C>T (p.Phe3571=)	SNV Germline	Chr11:103280365	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10606052	rs_886043866	2 SubmittersRCV000401039 RCV003748218
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu)	SNV Germline	Chr11:103479238	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome Inborn genetic diseases Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255711	rs_191971137	5 SubmittersRCV000259300 RCV000322811 RCV000377480 RCV002522011 RCV002059278
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)	SNV Germline	Chr11:103170186	Conflicting classifications of pathogenicity	not specified Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Inborn genetic diseases DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6253683	rs_201563576	6 SubmittersRCV000334410 RCV000726544 RCV001088693 RCV001332760 RCV002522036 RCV003967802
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)	SNV Germline	Chr11:103176358	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Inborn genetic diseases DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6253835	rs_201829296	5 SubmittersRCV000346343 RCV001078803 RCV001332762 RCV002518147 RCV004742371
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln)	SNV Germline	Chr11:103253441	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6254910	rs_775615484	5 SubmittersRCV000268031 RCV000544278 RCV001107351 RCV002518148 RCV004816516
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)	SNV Germline	Chr11:103456351	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Inborn genetic diseases DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255630	rs_142920070	6 SubmittersRCV000348431 RCV001505716 RCV003144196 RCV002519356 RCV004725149
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1942424	rs_568969576	4 SubmittersRCV000278829 RCV000336979 RCV001520464 RCV004537842 RCV004965416
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 Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941701	rs_747246700	4 SubmittersRCV000334319 RCV000372660 RCV001861133 RCV002480176 RCV004735470
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 TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941664	rs_146201603	3 SubmittersRCV000277941 RCV000330744 RCV000465241 RCV004735469
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)	SNV Germline	Chr2:165907774	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Condition: not provided Jeune thoracic dystrophy Nephronophthisis not specified Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1941818	rs_114725374	9 SubmittersRCV000310489 RCV000365262 RCV000842292 RCV001477199 RCV001729542 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 Inborn genetic diseases TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1941888	rs_183367929	6 SubmittersRCV000263172 RCV000318231 RCV000634198 RCV000756833 RCV002521311 RCV004537839
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=)	SNV Germline	Chr2:165919372	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Conflicting Classifications	CA1942076	rs_573290536	2 SubmittersRCV000267097 RCV000326837 RCV002521312
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	7 SubmittersRCV000281585 RCV000387559 RCV000756834 RCV001859969 RCV004537838
NM_020800.3(IFT80):c.897G>A (p.Val299=)	SNV Germline	Chr3:160319820	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy not specified Asphyxiating thoracic dystrophy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2685317	rs_145776235	5 SubmittersRCV000308038 RCV000597698 RCV001094800 RCV004808692
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter)	SNV Germline	Chr3:160356080	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10615178	rs_201858128	2 SubmittersRCV000273212 RCV003748223
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp)	SNV Germline	Chr3:160279351	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2685070	rs_202145480	4 SubmittersRCV000336393 RCV001001024 RCV004021897
NM_020800.3(IFT80):c.1326C>T (p.Leu442=)	SNV Germline	Chr3:160285858	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10617599	rs_886058131	2 SubmittersRCV000397470 RCV001470952
NM_020800.3(IFT80):c.1053G>A (p.Thr351=)	SNV Germline	Chr3:160307686	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10617603	rs_746236656	2 SubmittersRCV000401716 RCV002057853
NM_020800.3(IFT80):c.2289A>G (p.Gln763=)	SNV Germline	Chr3:160258570	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA2684917	rs_142438830	2 SubmittersRCV000324014 RCV001401824
NM_020800.3(IFT80):c.807T>C (p.Thr269=)	SNV Germline	Chr3:160319910	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2 Connective tissue disorder IFT80-related disorder	Criteria Provided Conflicting Classifications	CA2685339	rs_372419950	4 SubmittersRCV000365085 RCV001094806 RCV002278539 RCV003969991
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	SNV Germline	Chr4:39216209	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2891800	rs_772867899	4 SubmittersRCV000298705 RCV000400723 RCV002480216 RCV001850849 RCV004021962
NM_025132.4(WDR19):c.1249+9A>G	SNV Germline	Chr4:39216219	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Cranioectodermal dysplasia Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2891801	rs_201377206	3 SubmittersRCV000353502 RCV000401556 RCV000878418 RCV002278577
NM_025132.4(WDR19):c.1134+13T>G	SNV Germline	Chr4:39216026	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891781	rs_374615138	2 SubmittersRCV000286504 RCV000380856 RCV002057926
NM_001377.3(DYNC2H1):c.195+7T>C	SNV Germline	Chr11:103109776	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy not specified Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA6252404	rs_112718117	7 SubmittersRCV000294768 RCV000417608 RCV000389309 RCV001094005 RCV001573530
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)	SNV Germline	Chr11:103113632	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6252442	rs_377529350	4 SubmittersRCV000288024 RCV000404648 RCV003391062 RCV004816539
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)	SNV Germline	Chr11:103135533	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6252992	rs_373707570	4 SubmittersRCV000321465 RCV000373741 RCV000831514 RCV001820882
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=)	SNV Germline	Chr11:103155492	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome not specified Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6253380	rs_377584612	4 SubmittersRCV000298010 RCV000355149 RCV000601156 RCV002056167 RCV003950013
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)	SNV Germline	Chr11:103168951	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6253662	rs_201863754	2 SubmittersRCV000324326 RCV000376673
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)	SNV Germline	Chr11:103170911	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6253719	rs_564701277	3 SubmittersRCV000285600 RCV000317227 RCV003977869
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)	SNV Germline	Chr11:103173219	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA10629727	rs_886047564	2 SubmittersRCV000307675 RCV000406056
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)	SNV Germline	Chr11:103174138	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 not specified	Criteria Provided Conflicting Classifications	CA6253806	rs_199541807	4 SubmittersRCV000260188 RCV000354946 RCV000506609
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)	SNV Germline	Chr11:103176353	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Neonatal respiratory distress Optic atrophy	Criteria Provided Conflicting Classifications	CA6253833	rs_185504536	8 SubmittersRCV000345802 RCV000381704 RCV001093954 RCV001526643 RCV004816540
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn)	SNV Germline	Chr11:103191541	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6254244	rs_201825699	3 SubmittersRCV000336961 RCV000403491 RCV002056168 RCV000756056
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)	SNV Germline	Chr11:103203758	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6254426	rs_199503535	2 SubmittersRCV000280119 RCV000379302
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)	SNV Germline	Chr11:103243738	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6254816	rs_200326353	4 SubmittersRCV000276087 RCV000333523 RCV001706449 RCV004816543
NM_001377.3(DYNC2H1):c.12456+7C>T	SNV Germline	Chr11:103436039	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255559	rs_372189534	2 SubmittersRCV000318716 RCV000373322 RCV003748221
NM_001377.3(DYNC2H1):c.12457-13T>C	SNV Germline	Chr11:103455173	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255571	rs_537890566	2 SubmittersRCV000259895 RCV000324456 RCV002056171
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=)	SNV Germline	Chr11:103455224	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255588	rs_202199079	2 SubmittersRCV000339422 RCV000384586 RCV002520667
NM_001377.3(DYNC2H1):c.*211A>G	SNV Germline	Chr11:103479464	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10629744	rs_148091830	1 SubmittersRCV000273036 RCV000328084
NM_001377.3(DYNC2H1):c.366+10G>A	SNV Germline	Chr11:103113717	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6252466	rs_200257097	2 SubmittersRCV000303471 RCV000358300
NM_001377.3(DYNC2H1):c.1000-7A>G	SNV Germline	Chr11:103120440	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10633182	rs_745325616	2 SubmittersRCV000291064 RCV000383108
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)	SNV Germline	Chr11:103120939	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6252728	rs_142881106	7 SubmittersRCV000298665 RCV000369703 RCV000431766 RCV000766586 RCV001820881 RCV003930276
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=)	SNV Germline	Chr11:103122845	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6252806	rs_754192939	2 SubmittersRCV000329334 RCV000362969 RCV002522174
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val)	SNV Germline	Chr11:103154567	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA6253314	rs_201043335	4 SubmittersRCV000292379 RCV000349630 RCV001093957 RCV002281082
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=)	SNV Germline	Chr11:103156645	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10633191	rs_886047562	2 SubmittersRCV000328244 RCV000385075 RCV003586176
NM_001377.3(DYNC2H1):c.4127+10A>G	SNV Germline	Chr11:103156780	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253466	rs_369188420	3 SubmittersRCV000282874 RCV000379732 RCV002520663
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)	SNV Germline	Chr11:103170946	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6253725	rs_370669724	2 SubmittersRCV000281964 RCV000371817
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)	SNV Germline	Chr11:103171047	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253735	rs_144553338	2 SubmittersRCV000336896 RCV000392514 RCV002522176
NM_001377.3(DYNC2H1):c.5335-14A>G	SNV Germline	Chr11:103173068	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome	Criteria Provided Conflicting Classifications	CA6253749	rs_372488002	2 SubmittersRCV000292310 RCV000351891
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)	SNV Germline	Chr11:103173258	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6253777	rs_201953670	2 SubmittersRCV000362121 RCV000402496
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)	SNV Germline	Chr11:103188499	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6254172	rs_79832792	4 SubmittersRCV000300852 RCV000391791 RCV001706448 RCV001094018
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)	SNV Germline	Chr11:103198006	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA10633204	rs_886047566	2 SubmittersRCV000272195 RCV000362360
NM_001377.3(DYNC2H1):c.8311+10A>G	SNV Germline	Chr11:103203786	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6254430	rs_376842066	3 SubmittersRCV000316619 RCV000375814 RCV003957569
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu)	SNV Germline	Chr11:103204875	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome not specified Jeune thoracic dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6254448	rs_184910011	4 SubmittersRCV000296242 RCV000390865 RCV000507317 RCV002056169 RCV004816542
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)	SNV Germline	Chr11:103245271	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6254837	rs_192003811	6 SubmittersRCV000269938 RCV000380832 RCV000756052 RCV000727890
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)	SNV Germline	Chr11:103283040	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255083	rs_187451323	4 SubmittersRCV000295904 RCV000343805 RCV001093934 RCV003957570
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)	SNV Germline	Chr11:103303235	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome not specified Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255184	rs_78599571	5 SubmittersRCV000289052 RCV000599983 RCV000381067 RCV001093989 RCV003930278
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)	SNV Germline	Chr11:103399760	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy not specified	Criteria Provided Conflicting Classifications	CA6255498	rs_115480556	4 SubmittersRCV000311028 RCV000393092 RCV000602673
NM_001377.3(DYNC2H1):c.1134+8A>G	SNV Germline	Chr11:103120589	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome Condition: not provided Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6252684	rs_138290301	3 SubmittersRCV000281528 RCV000406367 RCV000734380 RCV001093950
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)	SNV Germline	Chr11:103135853	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6253048	rs_201224700	4 SubmittersRCV000312587 RCV000346432 RCV003456390 RCV002522175
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)	SNV Germline	Chr11:103152201	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy not specified Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6253238	rs_202082545	5 SubmittersRCV000260715 RCV000371754 RCV000605993 RCV003615834
NM_001377.3(DYNC2H1):c.4611+14C>T	SNV Germline	Chr11:103163161	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253594	rs_766124250	2 SubmittersRCV000312391 RCV000364772
NM_001377.3(DYNC2H1):c.6139+7C>T	SNV Germline	Chr11:103177827	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253900	rs_200749262	2 SubmittersRCV000291914 RCV000346872
NM_001377.3(DYNC2H1):c.8833-3T>C	SNV Germline	Chr11:103219912	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6254552	rs_551227065	3 SubmittersRCV000316951 RCV000353101 RCV002272208
NM_001377.3(DYNC2H1):c.8946+10A>C	SNV Germline	Chr11:103220038	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 not specified	Criteria Provided Conflicting Classifications	CA6254567	rs_550521675	3 SubmittersRCV000262812 RCV000317928 RCV001820883
NM_001377.3(DYNC2H1):c.9231+12G>A	SNV Germline	Chr11:103222165	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6254629	rs_369045696	4 SubmittersRCV000290173 RCV000393602 RCV000427164 RCV003910104
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)	SNV Germline	Chr11:103243719	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10636927	rs_886047572	2 SubmittersRCV000311264 RCV000368228
NM_001377.3(DYNC2H1):c.10043-7T>A	SNV Germline	Chr11:103253278	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6254876	rs_376067770	5 SubmittersRCV000286468 RCV000378511 RCV000731907
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)	SNV Germline	Chr11:103283043	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255084	rs_199958495	2 SubmittersRCV000308889 RCV000401909
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met)	SNV Germline	Chr11:103283071	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome Jeune thoracic dystrophy not specified Inborn genetic diseases DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255093	rs_201852557	5 SubmittersRCV000365937 RCV000404875 RCV002056170 RCV001820884 RCV002520665 RCV003977870
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)	SNV Germline	Chr11:103316598	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6255349	rs_144624858	4 SubmittersRCV000277569 RCV000369823 RCV001705450
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)	SNV Germline	Chr11:103321232	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6255397	rs_757571550	3 SubmittersRCV000325509 RCV000382475 RCV004975425
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)	SNV Germline	Chr11:103399822	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome	Criteria Provided Conflicting Classifications	CA6255507	rs_139902197	2 SubmittersRCV000349397 RCV000405670
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)	SNV Germline	Chr11:103479194	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 not specified	Criteria Provided Conflicting Classifications	CA6255705	rs_144717489	4 SubmittersRCV000267688 RCV000353080 RCV000440014
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)	SNV Germline	Chr11:103120454	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Jeune thoracic dystrophy Inborn genetic diseases Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA6252667	rs_182506343	5 SubmittersRCV000327096 RCV000379403 RCV002520661 RCV001093949 RCV003417982 RCV001251986
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)	SNV Germline	Chr11:103135924	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6253059	rs_375307767	3 SubmittersRCV000306769 RCV000394066 RCV001552582
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)	SNV Germline	Chr11:103155417	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome not specified Condition: not provided Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6253369	rs_118191062	6 SubmittersRCV000343361 RCV000304894 RCV000440654 RCV001726098 RCV001094011
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)	SNV Germline	Chr11:103179193	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Intellectual disability	Criteria Provided Conflicting Classifications	CA6253944	rs_201003494	4 SubmittersRCV000302504 RCV000405505 RCV001251984
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=)	SNV Germline	Chr11:103184976	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome Jeune thoracic dystrophy Condition: not provided DYNC2H1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6254002	rs_199675558	5 SubmittersRCV000263018 RCV000299438 RCV001401818 RCV003391063 RCV003930277 RCV004816541
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=)	SNV Germline	Chr11:103245353	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10637346	rs_886047573	2 SubmittersRCV000327276 RCV000384151 RCV003748220
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)	SNV Germline	Chr11:103253394	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA10637350	rs_886047574	2 SubmittersRCV000336349 RCV000407390
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=)	SNV Germline	Chr11:103311962	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255319	rs_777253444	2 SubmittersRCV000305217 RCV000392709 RCV003765785
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)	SNV Germline	Chr11:103253342	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Intellectual disability Jeune thoracic dystrophy not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6254888	rs_759549373	6 SubmittersRCV000408613 RCV001252223 RCV001865253 RCV003317202 RCV004742408
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	SNV Germline	Chr11:103255530	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6254944	rs_771487311	7 SubmittersRCV000515875 RCV000408623 RCV000516064 RCV001805030
NM_001377.3(DYNC2H1):c.6625A>T (p.Thr2209Ser)	SNV Germline	Chr11:103185043	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6254014	rs_200762072	3 SubmittersRCV000414720 RCV002058868 RCV002523953
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)	SNV Germline	Chr11:103165911	Likely pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042810	rs_1043384862	5 SubmittersRCV000413597 RCV000502405 RCV003766152
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)	SNV Germline	Chr11:103436015	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 not specified	Criteria Provided Conflicting Classifications	CA6255552	rs_755441612	5 SubmittersRCV000428176 RCV000704632 RCV001291163 RCV002307497
NM_001377.3(DYNC2H1):c.10883C>T (p.Thr3628Ile)	SNV Germline	Chr11:103283078	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16606133	rs_1057524234	3 SubmittersRCV000443989 RCV002522652 RCV002522653
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=)	SNV Germline	Chr11:103456330	Conflicting classifications of pathogenicity	not specified Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255624	rs_752163457	3 SubmittersRCV000424319 RCV001108173 RCV003766316
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)	SNV Germline	Chr3:160303973	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Type IV short rib polydactyly syndrome Asphyxiating thoracic dystrophy 2 IFT80-related disorder	Criteria Provided Conflicting Classifications	CA2685255	rs_140202230	5 SubmittersRCV000465513 RCV000515813 RCV001803759 RCV003942476
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	SNV Germline	Chr3:160356069	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Asphyxiating thoracic dystrophy 2 IFT80-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2685388	rs_138004478	6 SubmittersRCV000474945 RCV000516104 RCV000727148 RCV003103777 RCV004758018
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)	SNV Germline	Chr11:103257731	Pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Single Submitter	CA16612953	rs_562139820	3 SubmittersRCV000459333 RCV001291287
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)	SNV Germline	Chr1:225404655	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Regressive spondylometaphyseal dysplasia Condition: not provided LBR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1417117	rs_754049402	6 SubmittersRCV000516056 RCV001330715 RCV002526980 RCV003987561
NM_024753.5(TTC21B):c.553-2A>G	SNV Germline	Chr2:165941186	Likely pathogenic	Condition: not provided Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA1942393	rs_773580610	2 SubmittersRCV000479541 RCV001377359
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)	SNV Germline	Chr11:103177664	Pathogenic/Likely pathogenic	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6253872	rs_552436294	6 SubmittersRCV000483501 RCV000515935 RCV001291051 RCV003401520
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)	SNV Germline	Chr11:103253440	Pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16619091	rs_943680446	7 SubmittersRCV000486867 RCV001253670 RCV002526956
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)	SNV Germline	Chr17:6623016	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Familial aplasia of the vermis Jeune thoracic dystrophy Condition: not provided Short-rib thoracic dysplasia 21 without polydactyly Orofaciodigital syndrome XV	Criteria Provided Multiple Submitters No Conflicts	CA8330639	rs_746068882	7 SubmittersRCV000590973 RCV000984622 RCV001269779 RCV001559335 RCV002248721
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)	SNV Germline	Chr17:6623043	Pathogenic	Jeune thoracic dystrophy Familial aplasia of the vermis Condition: not provided Short-rib thoracic dysplasia 21 without polydactyly	Criteria Provided Single Submitter	CA8330644	rs_762771340	3 SubmittersRCV000590971 RCV000760916 RCV001559336
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg)	SNV Germline	Chr11:103198008	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6254332	rs_755505546	3 SubmittersRCV002269279 RCV003766765
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)	SNV Germline	Chr11:103117818	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA227400517	rs_778594253	3 SubmittersRCV000504077 RCV002527243 RCV003892133
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)	SNV Germline	Chr11:103129005	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA476608713	rs_1178331074	5 SubmittersRCV000500337 RCV000515832 RCV001764498
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)	SNV Germline	Chr11:103173196	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA6253763	rs_200208000	5 SubmittersRCV000508350 RCV000862552 RCV001107079 RCV004591452
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)	SNV Germline	Chr11:103253384	Pathogenic/Likely pathogenic	not specified Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA6254891	rs_368631447	8 SubmittersRCV000508370 RCV000984619 RCV001269722 RCV001291158
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys)	SNV Germline	Chr11:103177653	Pathogenic/Likely pathogenic	not specified Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA382246068	rs_1202784860	2 SubmittersRCV000507888 RCV003766877
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter)	SNV Germline	Chr3:160268436	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA2684946	rs_375941259	2 SubmittersRCV000506151 RCV001230221
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)	SNV Germline	Chr1:225411351	Likely pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Single Submitter	CA344996417	rs_1236962991	3 SubmittersRCV000515924 RCV002527448
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	SNV Germline	Chr2:165907746	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Nephronophthisis Jeune thoracic dystrophy TTC21B-related disorder	Criteria Provided Single Submitter	CA1941813	rs_79746977	5 SubmittersRCV000515936 RCV003151077 RCV002525013 RCV004541600
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His)	SNV Germline	Chr2:165924668	Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA349062475	rs_1453462442	2 SubmittersRCV000516140
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)	SNV Germline	Chr2:19935529	Pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Single Submitter	CA345942957	rs_1553316926	3 SubmittersRCV000516006 RCV004721404
NM_020779.4(WDR35):c.1400+3A>G	SNV Germline	Chr2:19953831	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA1543244	rs_776631281	2 SubmittersRCV000516020
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	SNV Germline	Chr2:19969556	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY Short-rib thoracic dysplasia 7/20 with polydactyly, digenic Short-rib thoracic dysplasia 7 with or without polydactyly Short rib-polydactyly syndrome Cranioectodermal dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1543388	rs_200649783	7 SubmittersRCV000516065 RCV000578486 RCV000608080 RCV000755748 RCV000851218 RCV001353118 RCV001764511
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe)	SNV Germline	Chr3:160280770	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA355191342	rs_1553753582	2 SubmittersRCV000515810
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn)	SNV Germline	Chr3:160357556	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA2685433	rs_372576954	2 SubmittersRCV000515954
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)	SNV Germline	Chr4:127687706	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA358147148	rs_1227833863	2 SubmittersRCV000515956
NM_015693.4(INTU):c.1628G>A (p.Arg543His)	SNV Germline	Chr4:127705652	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA3075153	rs_34027211	2 SubmittersRCV000515931
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)	SNV Germline	Chr4:169561850	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA109931382	rs_992324423	2 SubmittersRCV000515992
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)	SNV Germline	Chr4:39205592	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA356634279	rs_1553905326	2 SubmittersRCV000515976
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	SNV Germline	Chr4:39205726	Pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA2891724	rs_377160857	3 SubmittersRCV000516052 RCV001851417
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)	SNV Germline	Chr4:39224887	Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA356631901	rs_1215108056	3 SubmittersRCV000516069 RCV001316218
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)	SNV Germline	Chr4:39244470	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA2892116	rs_772599282	2 SubmittersRCV000515874
NM_025132.4(WDR19):c.3716+1G>A	SNV Germline	Chr4:39274959	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA356651027	rs_1191056931	2 SubmittersRCV000515837
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)	SNV Germline	Chr4:39277103	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA2892485	rs_745603321	2 SubmittersRCV000516083
NM_147127.5(EVC2):c.3360+1G>A	SNV Germline	Chr4:5574684	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA356150501	rs_1553815019	4 SubmittersRCV000516027 RCV000673627 RCV003766905
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	SNV Germline	Chr4:5689244	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome EVC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2835384	rs_761707323	6 SubmittersRCV000516039 RCV000667862 RCV001388085 RCV003915444
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)	SNV Germline	Chr7:158926234	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 See cases DYNC2I1-related disorder Short-rib thoracic dysplasia 8 with or without polydactyly	Criteria Provided Conflicting Classifications	CA4594938	rs_193204571	5 SubmittersRCV000516105 RCV001291411 RCV003156100 RCV003915443 RCV002230998
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser)	SNV Germline	Chr9:128635138	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA375115153	rs_1554771175	2 SubmittersRCV000515969
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)	SNV Germline	Chr9:128636919	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short-rib thoracic dysplasia 11 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA5266584	rs_555811074	4 SubmittersRCV000515869 RCV002231195 RCV003321641
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)	SNV Germline	Chr9:27029104	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA5015490	rs_759662469	2 SubmittersRCV000515865
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)	SNV Germline	Chr11:103113668	Pathogenic	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6252449	rs_755305630	4 SubmittersRCV001291292 RCV002275047 RCV003586192
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)	SNV Germline	Chr11:103116573	Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Single Submitter	CA6252556	rs_771511132	3 SubmittersRCV000516133 RCV001291052
NM_001377.3(DYNC2H1):c.767-2A>G	SNV Germline	Chr11:103117629	Pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA6252602	rs_762873763	3 SubmittersRCV001291050 RCV003586191
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter)	SNV Germline	Chr11:103120525	Pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA6252675	rs_764769351	3 SubmittersRCV001291040 RCV001851415
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)	SNV Germline	Chr11:103120705	Pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6252702	rs_369614706	4 SubmittersRCV000516108 RCV001577701
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr11:103120982	Pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA6252736	rs_371011047	5 SubmittersRCV000516025 RCV001353119
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp)	SNV Germline	Chr11:103135630	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	No Assertion Criteria Provided	CA382260043	rs_1555043520	2 SubmittersRCV000516111 RCV001291043
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)	SNV Germline	Chr11:103152248	Pathogenic/Likely pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6253248	rs_373335226	4 SubmittersRCV000521701 RCV001291393 RCV003748238
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)	SNV Germline	Chr11:103158916	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6253522	rs_745870321	7 SubmittersRCV000755107 RCV001584228 RCV001857883
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr)	SNV Germline	Chr11:103160971	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA382238849	rs_1555052511	2 SubmittersRCV000516125
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr)	SNV Germline	Chr11:103163089	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA382239171	rs_1555053115	3 SubmittersRCV000516112
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val)	SNV Germline	Chr11:103165985	Pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227396060	rs_901629870	4 SubmittersRCV001092187 RCV001291402 RCV003766901
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)	SNV Germline	Chr11:103170226	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6253689	rs_751030969	5 SubmittersRCV000515916 RCV003326448 RCV003230527
NM_001377.3(DYNC2H1):c.5558+2T>C	SNV Germline	Chr11:103173307	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA6253789	rs_762666243	3 SubmittersRCV000515862
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)	SNV Germline	Chr11:103177665	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227403247	rs_963717773	4 SubmittersRCV000516046 RCV003332188
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His)	SNV Germline	Chr11:103177797	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy not specified	Criteria Provided Conflicting Classifications	CA382246660	rs_1555057503	4 SubmittersRCV001291045 RCV003748239 RCV004526694
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser)	SNV Germline	Chr11:103179047	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA382246951	rs_1555057838	2 SubmittersRCV000516127
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)	SNV Germline	Chr11:103179151	Likely pathogenic	Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Single Submitter	CA6253928	rs_753662982	3 SubmittersRCV000516124 RCV003424069
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)	SNV Germline	Chr11:103184898	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253989	rs_775426647	4 SubmittersRCV001291047 RCV001857882
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)	SNV Germline	Chr11:103187356	Pathogenic/Likely pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6254108	rs_747348765	7 SubmittersRCV000521573 RCV001291177 RCV000754936 RCV003419889
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)	SNV Germline	Chr11:103189788	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA382253944	rs_1555062849	4 SubmittersRCV000634179 RCV001291285 RCV002281100
NM_001377.3(DYNC2H1):c.7438-2A>G	SNV Germline	Chr11:103191515	Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA382254014	rs_1555063811	3 SubmittersRCV001291279 RCV003748237
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)	SNV Germline	Chr11:103191520	Pathogenic	Jeune thoracic dystrophy not specified Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA6254239	rs_537704873	5 SubmittersRCV000515965 RCV001000998 RCV003989547
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	SNV Germline	Chr11:103192150	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382254374	rs_1350329646	9 SubmittersRCV000515993 RCV001199059 RCV001543510
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)	SNV Germline	Chr11:103199333	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA6254356	rs_758155107	2 SubmittersRCV000516047
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)	SNV Germline	Chr11:103199354	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy not specified	Criteria Provided Conflicting Classifications	CA6254362	rs_371214841	4 SubmittersRCV001291277 RCV003748236 RCV003230526
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)	SNV Germline	Chr11:103199355	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6254363	rs_200614421	5 SubmittersRCV000515843 RCV000860526 RCV000991172
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)	SNV Germline	Chr11:103199400	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA382256730	rs_1196317554	5 SubmittersRCV000515910 RCV001541195 RCV004701583
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)	SNV Germline	Chr11:103199438	Pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA6254376	rs_747857715	3 SubmittersRCV001291289 RCV003748243
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys)	SNV Germline	Chr11:103200154	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA227412382	rs_969015057	2 SubmittersRCV000515825
NM_001377.3(DYNC2H1):c.8311+1G>A	SNV Germline	Chr11:103203777	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA382257957	rs_1555068270	2 SubmittersRCV000516089
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro)	SNV Germline	Chr11:103215755	Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA382261264	rs_1555071484	3 SubmittersRCV001291172 RCV001851416
NM_001377.3(DYNC2H1):c.9353+1G>A	SNV Germline	Chr11:103223087	Pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 DYNC2H1-related disorder	Criteria Provided Single Submitter	CA6254660	rs_776407305	4 SubmittersRCV000516136 RCV001291164 RCV004742473
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter)	SNV Germline	Chr11:103234158	Pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA6254715	rs_373924400	3 SubmittersRCV001291397 RCV002527447
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn)	SNV Germline	Chr11:103243717	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6254811	rs_780600124	5 SubmittersRCV001291278 RCV001269528 RCV001857880
NM_001377.3(DYNC2H1):c.10042+2T>G	SNV Germline	Chr11:103245376	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Asphyxiating thoracic dystrophy 3 Autosomal recessive polycystic kidney disease Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA382246199	rs_1261505725	5 SubmittersRCV000516017 RCV001291173 RCV001328199 RCV003159657 RCV001857881
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys)	SNV Germline	Chr11:103253341	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA227414214	rs_200710887	3 SubmittersRCV000515818
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu)	SNV Germline	Chr11:103253347	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA382248047	rs_1555081345	2 SubmittersRCV000516008
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)	SNV Germline	Chr11:103257719	Pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6255008	rs_181011657	7 SubmittersRCV000532727 RCV000578494 RCV002473030
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser)	SNV Germline	Chr11:103479135	Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Single Submitter	CA382290910	rs_1555143920	3 SubmittersRCV000515860 RCV004820855
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)	SNV Germline	Chr11:103479158	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6255695	rs_368654019	5 SubmittersRCV000515988 RCV001291280 RCV001597152
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro)	SNV Germline	Chr13:20663516	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA387476643	rs_373832683	2 SubmittersRCV000516068
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)	SNV Germline	Chr14:75985794	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA7280567	rs_144776609	2 SubmittersRCV000515914
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu)	SNV Germline	Chr19:49808759	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	No Assertion Criteria Provided	CA9584334	rs_368721486	2 SubmittersRCV000515994
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)	SNV Germline	Chr2:165912581	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy 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	Nephronophthisis Jeune thoracic dystrophy 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_001377.3(DYNC2H1):c.4379-1G>C	SNV Germline	Chr11:103160931	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA382238751	rs_1555052497	1 SubmittersRCV000536512
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu)	SNV Germline	Chr11:103253342	Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Single Submitter	CA382248031	rs_759549373	2 SubmittersRCV000578487 RCV003586194
NM_001377.3(DYNC2H1):c.11493+2T>A	SNV Germline	Chr11:103307833	Likely pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA382262231	rs_1555096711	2 SubmittersRCV000579324 RCV000823429
NM_001377.3(DYNC2H1):c.5334+6G>A	SNV Germline	Chr11:103171074	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6253739	rs_372964069	3 SubmittersRCV000598324 RCV001086438
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)	SNV Germline	Chr11:103321208	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 3 Intellectual disability Jeune thoracic dystrophy Inborn genetic diseases DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255393	rs_189100009	6 SubmittersRCV000595074 RCV000764931 RCV001251977 RCV002065172 RCV003160051 RCV004742532
NM_001377.3(DYNC2H1):c.1662-3T>C	SNV Germline	Chr11:103125097	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications	CA6252856	rs_548328948	3 SubmittersRCV000595541 RCV001080633 RCV001106877
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)	SNV Germline	Chr3:160268478	Conflicting classifications of pathogenicity	Condition: not provided Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA2684949	rs_201820395	4 SubmittersRCV000593105 RCV000764474 RCV001085371
NM_001377.3(DYNC2H1):c.999+7A>G	SNV Germline	Chr11:103117870	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6252650	rs_766672853	2 SubmittersRCV000593238 RCV002532664
NM_024753.5(TTC21B):c.3874-14T>C	SNV Germline	Chr2:165874846	Conflicting classifications of pathogenicity	not specified Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA1941349	rs_200347449	4 SubmittersRCV000612511 RCV001130402 RCV001130403 RCV001520867 RCV001811098
NM_001377.3(DYNC2H1):c.12039+15A>G	SNV Germline	Chr11:103324005	Conflicting classifications of pathogenicity	not specified Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications	CA6255442	rs_184350782	3 SubmittersRCV000604425 RCV001102880 RCV002062975
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=)	SNV Germline	Chr11:103158961	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA6253528	rs_367841359	4 SubmittersRCV000860640 RCV001104018 RCV001697891
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)	SNV Germline	Chr2:165943260	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy Connective tissue disorder TTC21B-related disorder	Criteria Provided Conflicting Classifications	CA1942419	rs_199821354	5 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_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys)	SNV Germline	Chr11:103185031	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6254013	rs_750689118	3 SubmittersRCV000634178 RCV001597191
NM_024753.5(TTC21B):c.152-2A>G	SNV Germline	Chr2:165949506	Likely pathogenic	Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy	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 Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_369159801	3 SubmittersRCV000657791 RCV000778568 RCV001861684
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter)	SNV Germline	Chr11:103116677	Pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1565311145	2 SubmittersRCV000754941 RCV001269657
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)	SNV Germline	Chr11:103122879	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided DYNC2H1-related disorder	Criteria Provided Conflicting Classifications		rs_1565317399	4 SubmittersRCV000754943 RCV001269813 RCV004547846
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)	SNV Germline	Chr11:103125293	Pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1260978141	3 SubmittersRCV000754942 RCV001269846
NM_001377.3(DYNC2H1):c.2574+1G>A	SNV Germline	Chr11:103135949	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1565329461	3 SubmittersRCV000754948 RCV002227206 RCV003319397
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val)	SNV Germline	Chr11:103176331	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_1565368733	2 SubmittersRCV000754940
NM_001377.3(DYNC2H1):c.6478-16G>A	SNV Germline	Chr11:103184880	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_376892534	1 SubmittersRCV000754950
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr)	SNV Germline	Chr11:103199307	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_1265669915	2 SubmittersRCV000754933 RCV001269529
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)	SNV Germline	Chr11:103199391	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_764468030	2 SubmittersRCV000754935 RCV001269834
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn)	SNV Germline	Chr11:103204954	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_1565394254	2 SubmittersRCV000754937 RCV001269661
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=)	SNV Germline	Chr11:103287559	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_764926983	5 SubmittersRCV000754951 RCV003221356 RCV004723058
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter)	SNV Germline	Chr14:75988903	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short-rib thoracic dysplasia 18 with polydactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_780404339	3 SubmittersRCV000754952 RCV002307587 RCV003727803
NM_015681.6(B9D1):c.467G>C (p.Arg156Pro)	SNV Germline	Chr17:19343795	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_886038205	2 SubmittersRCV000754944 RCV001269814
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)	SNV Germline	Chr17:6624770	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Jeune thoracic dystrophy Familial aplasia of the vermis Condition: not provided Short-rib thoracic dysplasia 21 without polydactyly Orofaciodigital syndrome XV	Criteria Provided Conflicting Classifications		rs_752659088	6 SubmittersRCV000754953 RCV000984620 RCV001269992 RCV001559339 RCV004812351
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)	SNV Germline	Chr2:165930358	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_1437304335	3 SubmittersRCV000707517 RCV002279494 RCV003313138
NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter)	SNV Germline	Chr11:103135524	Pathogenic	Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1309577378	2 SubmittersRCV000696242 RCV003226971
NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter)	SNV Germline	Chr11:103241546	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1565423740	1 SubmittersRCV000687230
NM_001377.3(DYNC2H1):c.6347+1G>A	SNV Germline	Chr11:103179234	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1565371538	1 SubmittersRCV000704413
NM_001177701.3(IFT27):c.234+1G>A	SNV Germline	Chr22:36766137	Likely pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1159774355	3 SubmittersRCV000722443 RCV004794446
NM_001377.3(DYNC2H1):c.367-2A>G	SNV Germline	Chr11:103114101	Likely pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1291197898	2 SubmittersRCV000722555 RCV001206692
NM_001377.3(DYNC2H1):c.1857+8A>G	SNV Germline	Chr11:103125303	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_751414927	2 SubmittersRCV000728918 RCV003768184
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)	SNV Germline	Chr11:103245356	Pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_751891969	2 SubmittersRCV000731079 RCV003768203
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=)	SNV Germline	Chr1:212858539	Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided		rs_1558104145	1 SubmittersRCV000755162
NM_024755.4(SLTM):c.2600C>A (p.Pro867His)	SNV Germline	Chr15:58887316	Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided		rs_1401798992	1 SubmittersRCV000755166
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)	SNV Germline	Chr11:103234098	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200170585	4 SubmittersRCV000756062 RCV001089328 RCV002222621 RCV002536558
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter)	SNV Germline	Chr11:103116687	Pathogenic/Likely pathogenic	Condition: not provided Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_561778796	3 SubmittersRCV000760757 RCV003748274 RCV004742629
NM_001377.3(DYNC2H1):c.2343C>G (p.Tyr781Ter)	SNV Germline	Chr11:103135632	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications		rs_1266078341	2 SubmittersRCV003748280 RCV004549848
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter)	SNV Germline	Chr11:103280381	Conflicting classifications of pathogenicity	DYNC2H1-related disorder Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_373536938	2 SubmittersRCV004549853 RCV003586218
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 TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_141240501	5 SubmittersRCV000804050 RCV001135928 RCV001135929 RCV002487713 RCV003128708 RCV004735811
NM_024753.5(TTC21B):c.3263+1G>A	SNV Germline	Chr2:165890478	Likely pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter		rs_1574070787	1 SubmittersRCV000795171
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_020800.3(IFT80):c.912G>A (p.Glu304=)	SNV Germline	Chr3:160319805	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2	Criteria Provided Conflicting Classifications		rs_199575501	2 SubmittersRCV000864045 RCV001145555
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)	SNV Germline	Chr11:103135856	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications		rs_200961157	3 SubmittersRCV000861292 RCV001002248 RCV003975372
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=)	SNV Germline	Chr11:103173255	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_201305322	2 SubmittersRCV001107080 RCV002062254
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys)	SNV Germline	Chr11:103253290	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy DYNC2H1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_149452352	4 SubmittersRCV001804002 RCV002064430 RCV003955567 RCV004726707
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)	SNV Germline	Chr2:165901910	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Nephrotic syndrome	Criteria Provided Conflicting Classifications		rs_190101048	3 SubmittersRCV000865774 RCV001134206 RCV001134205 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 TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_149842503	3 SubmittersRCV001135807 RCV001135806 RCV002064595 RCV004735842
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_020800.3(IFT80):c.2156G>A (p.Arg719His)	SNV Germline	Chr3:160268480	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2 Condition: not provided Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_551983792	7 SubmittersRCV000871035 RCV001147394 RCV001573957 RCV002279583 RCV002539958
NM_020800.3(IFT80):c.879C>T (p.Val293=)	SNV Germline	Chr3:160319838	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2 Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_143660757	3 SubmittersRCV000868340 RCV001145671 RCV002279580
NM_020800.3(IFT80):c.546G>A (p.Leu182=)	SNV Germline	Chr3:160366046	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_543233802	2 SubmittersRCV000865032 RCV002279570
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=)	SNV Germline	Chr11:103188565	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications		rs_371948128	2 SubmittersRCV000866049 RCV001107820
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)	SNV Germline	Chr11:103215857	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy not specified Condition: not provided DYNC2H1-related disorder	Criteria Provided Conflicting Classifications		rs_201252553	4 SubmittersRCV001407252 RCV003317393 RCV003480883 RCV003965700
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His)	SNV Germline	Chr11:103257696	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_188113889	4 SubmittersRCV000867025 RCV001102777 RCV003319428
NM_001377.3(DYNC2H1):c.6894-5C>T	SNV Germline	Chr11:103187335	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_552793888	2 SubmittersRCV003145215 RCV002536769
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)	SNV Germline	Chr2:165880782	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis 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 Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Condition: not provided	Criteria Provided Conflicting Classifications		rs_767037992	3 SubmittersRCV000874145 RCV001134076 RCV001134077 RCV004721666
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu)	SNV Germline	Chr11:103184976	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199675558	3 SubmittersRCV001803201 RCV002068763 RCV003160159
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys)	SNV Germline	Chr11:103358271	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_771264933	3 SubmittersRCV001002227 RCV002068788
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)	SNV Germline	Chr2:165949421	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752147287	3 SubmittersRCV001048635 RCV002481944 RCV003243430
NM_020800.3(IFT80):c.332C>T (p.Ala111Val)	SNV Germline	Chr3:160377468	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_557375681	2 SubmittersRCV001070968 RCV003389332
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu)	SNV Germline	Chr11:103156437	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200635842	2 SubmittersRCV001041030 RCV004031235
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=)	SNV Germline	Chr11:103121026	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_190106816	2 SubmittersRCV001105760 RCV002069741
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=)	SNV Germline	Chr11:103135813	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_143172984	2 SubmittersRCV001107548 RCV003748307
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)	SNV Germline	Chr11:103148606	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy DYNC2H1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_772439717	5 SubmittersRCV001103934 RCV001401390 RCV003928704 RCV004032100
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=)	SNV Germline	Chr11:103168915	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_376188702	2 SubmittersRCV001104321 RCV001444315
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=)	SNV Germline	Chr11:103181781	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_1386325793	2 SubmittersRCV001104105 RCV003748304
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)	SNV Germline	Chr11:103186377	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199897162	4 SubmittersRCV001104416 RCV001358422 RCV001248024 RCV002558043
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=)	SNV Germline	Chr11:103220667	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications		rs_765905797	3 SubmittersRCV001107912 RCV003748308 RCV003906203
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=)	SNV Germline	Chr11:103231290	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_930832327	2 SubmittersRCV001102680 RCV003586263
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=)	SNV Germline	Chr11:103303136	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_778092263	2 SubmittersRCV001105850 RCV003748305
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser)	SNV Germline	Chr11:103303182	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Inborn genetic diseases Jeune thoracic dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_199766341	6 SubmittersRCV001105851 RCV003243479 RCV002558060 RCV004768861 RCV004813768
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=)	SNV Germline	Chr11:103303250	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_760751244	2 SubmittersRCV001105852 RCV002069744
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=)	SNV Germline	Chr11:103321045	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_769560873	2 SubmittersRCV001102878 RCV003748303
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=)	SNV Germline	Chr11:103323921	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy DYNC2H1-related disorder	Criteria Provided Conflicting Classifications		rs_370818346	3 SubmittersRCV001102879 RCV001472292 RCV003898092
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=)	SNV Germline	Chr11:103468633	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_371640317	2 SubmittersRCV001108175 RCV002069767
NM_001377.3(DYNC2H1):c.2345+9T>C	SNV Germline	Chr11:103135643	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_772122634	2 SubmittersRCV001107547 RCV003586265
NM_001377.3(DYNC2H1):c.2574+9C>T	SNV Germline	Chr11:103135957	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_777840832	2 SubmittersRCV001103931 RCV003586264
NM_001377.3(DYNC2H1):c.5335-11T>G	SNV Germline	Chr11:103173071	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_181963253	3 SubmittersRCV001107078 RCV002067789
NM_001377.3(DYNC2H1):c.7140+8A>G	SNV Germline	Chr11:103187594	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_768364364	2 SubmittersRCV001107159 RCV003748306
NM_001377.3(DYNC2H1):c.9568-13C>G	SNV Germline	Chr11:103235659	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_189730787	3 SubmittersRCV001104602 RCV002555026 RCV004693617
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)	SNV Germline	Chr2:165890936	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Nephronophthisis Jeune thoracic dystrophy 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	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_140323384	3 SubmittersRCV001128820 RCV001128821 RCV001873517 RCV004734023
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=)	SNV Germline	Chr2:165919375	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy	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 Nephronophthisis Jeune thoracic dystrophy 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 Nephronophthisis Jeune thoracic dystrophy 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 Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_773555238	3 SubmittersRCV001136014 RCV001136015 RCV001856736
NM_024753.5(TTC21B):c.3805+13A>G	SNV Germline	Chr2:165880666	Conflicting classifications of pathogenicity	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_529123534	2 SubmittersRCV001130404 RCV001130405 RCV002070522
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)	SNV Germline	Chr3:160282495	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_554335278	4 SubmittersRCV001149881 RCV001512546 RCV002276642 RCV002557223
NM_020800.3(IFT80):c.1104A>T (p.Ile368=)	SNV Germline	Chr3:160303962	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_369114064	2 SubmittersRCV001145553 RCV002070757
NM_020800.3(IFT80):c.804C>T (p.Asn268=)	SNV Germline	Chr3:160319913	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_375407595	2 SubmittersRCV001145673 RCV001456752
NM_020800.3(IFT80):c.468C>T (p.Gly156=)	SNV Germline	Chr3:160366124	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_145679417	2 SubmittersRCV001148435 RCV001414310
NM_020800.3(IFT80):c.2224-9C>T	SNV Germline	Chr3:160258644	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 2 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_752574778	2 SubmittersRCV001147393 RCV002070789
NM_020800.3(IFT80):c.639+5A>G	SNV Germline	Chr3:160357484	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 2 Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_527856744	5 SubmittersRCV001401851 RCV001796374 RCV001148432 RCV002276641
NM_024753.5(TTC21B):c.1A>G (p.Met1Val)	SNV Germline	Chr2:165953705	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12	Criteria Provided Conflicting Classifications		rs_1435376086	2 SubmittersRCV001217260 RCV004577542
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)	SNV Germline	Chr2:165930346	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy TTC21B-related disorder Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_140899101	4 SubmittersRCV001212557 RCV004538457 RCV002497725 RCV004033859
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu)	SNV Germline	Chr11:103125117	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_561232842	2 SubmittersRCV001206202 RCV004619549
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_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)	SNV Germline	Chr11:103156663	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_191869845	2 SubmittersRCV001246533 RCV003166547
NM_020800.3(IFT80):c.958-1G>T	SNV Germline	Chr3:160307782	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 2	Criteria Provided Multiple Submitters No Conflicts		rs_202051267	2 SubmittersRCV001229437 RCV001780160
NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg)	SNV Germline	Chr11:103468635	Likely pathogenic	Autosomal recessive retinitis pigmentosa Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1945272232	2 SubmittersRCV001256166 RCV003586291
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_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)	SNV Germline	Chr11:103113658	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200485999	4 SubmittersRCV001281676 RCV001586106 RCV002069500 RCV002537923
NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His)	SNV Germline	Chr11:103115228	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199960819	4 SubmittersRCV001281675 RCV001571880 RCV002069499 RCV002537922
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser)	SNV Germline	Chr11:103114212	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_201510850	2 SubmittersRCV001286217 RCV002542977
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His)	SNV Germline	Chr11:103121480	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 not specified Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_201484896	3 SubmittersRCV001285028 RCV001819977 RCV002541768
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His)	SNV Germline	Chr11:103220687	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_755871858	5 SubmittersRCV001285977 RCV002462900 RCV002537942 RCV003246832 RCV004699269
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_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)	SNV Germline	Chr2:165911410	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Condition: not provided Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications		rs_763158250	3 SubmittersRCV001308837 RCV001760370 RCV002486207
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)	SNV Germline	Chr11:103170910	Pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_772321133	3 SubmittersRCV001332761 RCV003748338 RCV003322881
NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter)	SNV Germline	Chr11:103189759	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_921573478	1 SubmittersRCV001924390
NM_024753.5(TTC21B):c.2550G>A (p.Ala850=)	SNV Germline	Chr2:165907696	Conflicting classifications of pathogenicity	Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Conflicting Classifications		rs_144151561	2 SubmittersRCV001336666 RCV002070211
NM_001377.3(DYNC2H1):c.11667T>G (p.Tyr3889Ter)	SNV Germline	Chr11:103316562	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1937856263	1 SubmittersRCV003748701
NM_001377.3(DYNC2H1):c.12456+2T>C	SNV Germline	Chr11:103436034	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_778359687	1 SubmittersRCV003749614
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)	SNV Germline	Chr2:165917273	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_139653847	3 SubmittersRCV001372815 RCV002488179 RCV002548665
NM_020800.3(IFT80):c.1152-1G>C	SNV Germline	Chr3:160301047	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_777519235	1 SubmittersRCV001378040
NM_020800.3(IFT80):c.440-2A>G	SNV Germline	Chr3:160366154	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1721846338	1 SubmittersRCV001378148
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr2:165919404	Pathogenic/Likely pathogenic	Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Multiple Submitters No Conflicts		rs_779134983	2 SubmittersRCV001382361 RCV002493924
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr3:160277625	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_781436346	1 SubmittersRCV001384026
NM_001177701.3(IFT27):c.404C>G (p.Ser135Ter)	SNV Germline	Chr22:36762962	Pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_145338298	2 SubmittersRCV001381750 RCV004794537
NM_001377.3(DYNC2H1):c.2210T>A (p.Phe737Tyr)	SNV Germline	Chr11:103135499	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200599406	2 SubmittersRCV001419216 RCV002554077
NM_001377.3(DYNC2H1):c.1184C>T (p.Ala395Val)	SNV Germline	Chr11:103120738	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200822573	2 SubmittersRCV001461600 RCV003160871
NM_001377.3(DYNC2H1):c.4576C>A (p.Gln1526Lys)	SNV Germline	Chr11:103163112	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_201162989	3 SubmittersRCV002562708 RCV004719162 RCV001486570
NM_001377.3(DYNC2H1):c.7222G>A (p.Ala2408Thr)	SNV Germline	Chr11:103188578	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201875907	2 SubmittersRCV001489983 RCV004037302
NM_001377.3(DYNC2H1):c.12833A>T (p.Asp4278Val)	SNV Germline	Chr11:103479162	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200268681	3 SubmittersRCV001501684 RCV001575394 RCV002564162
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)	SNV Germline	Chr3:160384588	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_184680258	2 SubmittersRCV001512673 RCV002276752
NM_024753.5(TTC21B):c.3102-2A>G	SNV Germline	Chr2:165890642	Likely pathogenic	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis	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	Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts		rs_764514397	2 SubmittersRCV001535953 RCV002568923
NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)	SNV Unknown	Chr11:67279866	Pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided		rs_2136500272	1 SubmittersRCV001543384
NM_001619.5(GRK2):c.555+1G>A	SNV Germline	Chr11:67280784	Likely pathogenic	Jeune thoracic dystrophy	No Assertion Criteria Provided		rs_2136501226	1 SubmittersRCV001543386
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter)	SNV Germline	Chr11:103189814	Pathogenic/Likely pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_200989423	2 SubmittersRCV001596853 RCV003748351
NM_001377.3(DYNC2H1):c.6779T>G (p.Leu2260Arg)	SNV Germline	Chr11:103186387	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_761222472	2 SubmittersRCV001596913 RCV002072364
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)	SNV Germline	Chr2:165890967	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis 12 Asphyxiating thoracic dystrophy 4 Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_141708554	3 SubmittersRCV001597548 RCV002488438 RCV002592516
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)	SNV Germline	Chr2:165949483	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy Nephronophthisis 12 Asphyxiating thoracic dystrophy 4	Criteria Provided Conflicting Classifications		rs_376163622	3 SubmittersRCV001665442 RCV001882754 RCV002506712
NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=)	SNV Germline	Chr2:165890598	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Jeune thoracic dystrophy TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_762837601	3 SubmittersRCV001760605 RCV001882878 RCV004734258
NM_001377.3(DYNC2H1):c.8536T>C (p.Ser2846Pro)	SNV Germline	Chr11:103209957	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_767717747	3 SubmittersRCV001768351 RCV002077204 RCV002540689
NM_001377.3(DYNC2H1):c.1157C>T (p.Ser386Phe)	SNV Germline	Chr11:103120711	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_541038013	3 SubmittersRCV001755647 RCV002074040 RCV004040740
NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile)	SNV Germline	Chr11:103134408	Conflicting classifications of pathogenicity	Condition: not provided Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370906388	3 SubmittersRCV001768267 RCV003586311 RCV004040735
NM_001377.3(DYNC2H1):c.6477+1G>A	SNV Germline	Chr11:103181887	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_756313208	1 SubmittersRCV003870211
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter)	SNV Germline	Chr11:103114235	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_755464335	2 SubmittersRCV001808203 RCV001869583
NM_001377.3(DYNC2H1):c.2702+9G>C	SNV Germline	Chr11:103143404	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications		rs_373942624	2 SubmittersRCV001820569 RCV002542635
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)	SNV Germline	Chr2:165919375	Pathogenic	Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_199559023	1 SubmittersRCV001931706
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)	SNV Germline	Chr2:165949625	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Inborn genetic diseases Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications		rs_776138424	3 SubmittersRCV001878223 RCV004039609 RCV002482480
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)	SNV Germline	Chr2:165929249	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_533077805	3 SubmittersRCV001902665 RCV002490121 RCV004734317
NM_001377.3(DYNC2H1):c.5960C>T (p.Thr1987Met)	SNV Germline	Chr11:103177641	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_769618486	4 SubmittersRCV001950256 RCV002562201 RCV003154224 RCV004699573
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_001377.3(DYNC2H1):c.9918+1G>T	SNV Germline	Chr11:103243792	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_772732648	1 SubmittersRCV001990327
NM_001377.3(DYNC2H1):c.1248+1G>A	SNV Germline	Chr11:103120803	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1389651809	1 SubmittersRCV001991124
NM_001377.3(DYNC2H1):c.2818+1G>C	SNV Germline	Chr11:103147888	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1591316134	1 SubmittersRCV001929460
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)	SNV Germline	Chr2:165890630	Pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter		rs_2105291727	1 SubmittersRCV001951824
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 Inborn genetic diseases Condition: not provided TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_140908725	6 SubmittersRCV001936014 RCV002484516 RCV004043555 RCV003151870 RCV004734339
NM_001377.3(DYNC2H1):c.12763C>T (p.Gln4255Ter)	SNV Germline	Chr11:103468703	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_2135849050	1 SubmittersRCV001992121
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_001377.3(DYNC2H1):c.8346G>A (p.Met2782Ile)	SNV Germline	Chr11:103204856	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_774895745	2 SubmittersRCV001982677 RCV004043707
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)	SNV Germline	Chr2:165929144	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Nephronophthisis 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_024753.5(TTC21B):c.2300T>C (p.Ile767Thr)	SNV Germline	Chr2:165912536	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_140824612	3 SubmittersRCV001916806 RCV002246600 RCV004681325
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)	SNV Germline	Chr2:165929697	Pathogenic	Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_749794837	1 SubmittersRCV001896452
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_001377.3(DYNC2H1):c.2008G>T (p.Glu670Ter)	SNV Germline	Chr11:103133609	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_750682546	1 SubmittersRCV001993258
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_020800.3(IFT80):c.551G>A (p.Trp184Ter)	SNV Germline	Chr3:160357577	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1182330004	1 SubmittersRCV002000201
NM_024753.5(TTC21B):c.711-2A>C	SNV Germline	Chr2:165933059	Likely pathogenic	Nephronophthisis Jeune thoracic dystrophy	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	Nephronophthisis Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Criteria Provided Conflicting Classifications		rs_202087501	2 SubmittersRCV001866492 RCV002482458
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_001377.3(DYNC2H1):c.8694+1G>T	SNV Germline	Chr11:103211944	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1455606327	1 SubmittersRCV002038297
NM_001377.3(DYNC2H1):c.9823C>T (p.Arg3275Ter)	SNV Germline	Chr11:103243696	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_2135225617	1 SubmittersRCV002037940
NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter)	SNV Germline	Chr11:103134354	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_2134773913	1 SubmittersRCV001900267
NM_001377.3(DYNC2H1):c.3076C>T (p.Gln1026Ter)	SNV Germline	Chr11:103152265	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_765224364	1 SubmittersRCV001967186
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_024753.5(TTC21B):c.895-1G>A	SNV Germline	Chr2:165930365	Likely pathogenic	Nephronophthisis Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_773008707	1 SubmittersRCV002001160
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)	SNV Germline	Chr11:103203775	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Multiple Submitters No Conflicts		rs_1437320571	3 SubmittersRCV001982981 RCV002307817
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)	SNV Germline	Chr2:165883847	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis 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_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_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_001377.3(DYNC2H1):c.12649-1G>A	SNV Germline	Chr11:103468588	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter		rs_1333438254	1 SubmittersRCV002007651
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)	SNV Germline	Chr2:165930289	Conflicting classifications of pathogenicity	Nephronophthisis Jeune thoracic dystrophy Condition: not provided Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 TTC21B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_762885961	6 SubmittersRCV001955148 RCV002243486 RCV002479500 RCV004734357 RCV002561508
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_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His)	SNV Germline	Chr11:103456286	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_201699865	4 SubmittersRCV002101743 RCV003348806 RCV003883782 RCV004816964
NM_001377.3(DYNC2H1):c.12916A>G (p.Asn4306Asp)	SNV Germline	Chr11:103479245	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200264343	2 SubmittersRCV002106159 RCV004617003
NM_001377.3(DYNC2H1):c.9007A>G (p.Ile3003Val)	SNV Germline	Chr11:103220683	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_367832579	2 SubmittersRCV002175594 RCV002553705
NM_020800.3(IFT80):c.550-4A>T	SNV Germline	Chr3:160357582	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_769891425	2 SubmittersRCV002186604 RCV002277041
NM_001377.3(DYNC2H1):c.11176A>G (p.Ile3726Val)	SNV Germline	Chr11:103303173	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_370622418	3 SubmittersRCV002103587 RCV003015296 RCV003015295
NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His)	SNV Germline	Chr2:165876188	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Condition: not provided TTC21B-related disorder	Criteria Provided Conflicting Classifications		rs_139537546	4 SubmittersRCV002205801 RCV002265061 RCV004734429
NM_001377.3(DYNC2H1):c.4477T>A (p.Ser1493Thr)	SNV Germline	Chr11:103161030	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_748170980	3 SubmittersRCV002159532 RCV004784038 RCV004976211
NM_001377.3(DYNC2H1):c.10252C>G (p.Gln3418Glu)	SNV Germline	Chr11:103255460	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_543525711	2 SubmittersRCV002175408 RCV004045069
NM_001377.3(DYNC2H1):c.12457-1G>C	SNV Germline	Chr11:103455185	Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_2135805319	2 SubmittersRCV002249036 RCV003774707
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)	SNV Germline	Chr11:103199246	Pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002306097 RCV003775008
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)	SNV Germline	Chr11:103455191	Pathogenic	Condition: not provided Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002467157 RCV003485786 RCV003775495
NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)	SNV Germline	Chr2:165890896	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003062713 RCV004798021
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_020800.3(IFT80):c.957+1G>A	SNV Germline	Chr3:160319759	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003085069
NM_020800.3(IFT80):c.1076+1G>A	SNV Germline	Chr3:160307662	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002582465
NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His)	SNV Germline	Chr11:103117853	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002596268
NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu)	SNV Germline	Chr11:103117853	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002588536
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)	SNV Germline	Chr3:160282511	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002606023
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)	SNV Germline	Chr3:160268512	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002638590
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_020800.3(IFT80):c.464G>A (p.Trp155Ter)	SNV Germline	Chr3:160366128	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002572488
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_020800.3(IFT80):c.28G>T (p.Glu10Ter)	SNV Germline	Chr3:160384573	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002720456
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_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)	SNV Germline	Chr2:165911333	Pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter			1 SubmittersRCV002740663
NM_001377.3(DYNC2H1):c.1459G>A (p.Val487Ile)	SNV Germline	Chr11:103121470	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002781467 RCV004973636
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_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)	SNV Germline	Chr2:165930172	Pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter			1 SubmittersRCV002819660
NM_001377.3(DYNC2H1):c.6894-1G>A	SNV Germline	Chr11:103187339	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002856960
NM_020800.3(IFT80):c.1664+1G>A	SNV Germline	Chr3:160280666	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002828837
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)	SNV Germline	Chr2:165929673	Pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter			1 SubmittersRCV002861734
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_024753.5(TTC21B):c.2138+1G>T	SNV Germline	Chr2:165915200	Likely pathogenic	Jeune thoracic dystrophy Nephronophthisis	Criteria Provided Single Submitter			1 SubmittersRCV002899558
NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter)	SNV Germline	Chr11:103191606	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002923502
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)	SNV Germline	Chr3:160381642	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002963402
NM_024753.5(TTC21B):c.205G>T (p.Val69Leu)	SNV Germline	Chr2:165949451	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002982291 RCV004963316
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)	SNV Germline	Chr3:160268517	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003031131
NM_001377.3(DYNC2H1):c.1649G>C (p.Arg550Thr)	SNV Germline	Chr11:103122988	Conflicting classifications of pathogenicity	Inborn genetic diseases Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV002772169 RCV003586381
NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu)	SNV Germline	Chr11:103435986	Conflicting classifications of pathogenicity	Inborn genetic diseases Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV002980971 RCV003748457
NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr)	SNV Germline	Chr11:103168901	Pathogenic/Likely pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003123200 RCV003748458
NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)	SNV Germline	Chr11:103135923	Pathogenic	Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003123201 RCV003778667
NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)	SNV Germline	Chr11:103143385	Pathogenic/Likely pathogenic	DYNC2H1-related disorder Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003420563 RCV003778692
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)	SNV Germline	Chr11:103158768	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003144847 RCV003778834
NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)	SNV Germline	Chr11:103116695	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 3 Jeune thoracic dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV003146902 RCV003586385
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)	SNV Germline	Chr17:28715860	Likely pathogenic	Jeune thoracic dystrophy Orofaciodigital syndrome 20	Criteria Provided Single Submitter			2 SubmittersRCV003237334 RCV003761642
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)	SNV Germline	Chr17:28714814	Likely pathogenic	Jeune thoracic dystrophy Orofaciodigital syndrome 20	Criteria Provided Single Submitter			2 SubmittersRCV003237335 RCV003761643
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)	SNV Germline	Chr11:103158917	Conflicting classifications of pathogenicity	not specified Jeune thoracic dystrophy Asphyxiating thoracic dystrophy 3	Criteria Provided Conflicting Classifications			3 SubmittersRCV003317788 RCV003586408 RCV004796799
NM_001377.3(DYNC2H1):c.6139+2T>C	SNV Germline	Chr11:103177822	Likely pathogenic	DYNC2H1-related disorder Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003394350 RCV003586418
NM_001377.3(DYNC2H1):c.11934+1G>A	SNV Germline	Chr11:103321238	Likely pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003586452
NM_001377.3(DYNC2H1):c.2736C>A (p.Cys912Ter)	SNV Germline	Chr11:103147805	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003586604
NM_001377.3(DYNC2H1):c.11606G>A (p.Trp3869Ter)	SNV Germline	Chr11:103311990	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003586605
NM_001377.3(DYNC2H1):c.6790C>T (p.Gln2264Ter)	SNV Germline	Chr11:103186398	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003586532
NM_001377.3(DYNC2H1):c.3498G>A (p.Trp1166Ter)	SNV Germline	Chr11:103154734	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003586547
NM_001377.3(DYNC2H1):c.6645G>A (p.Trp2215Ter)	SNV Germline	Chr11:103186253	Pathogenic	Jeune thoracic dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003586667

NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)

SNV
Germline

Chr3:160268535

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA114705

rs_137853116

4 SubmittersRCV000001046 RCV002512630 RCV004719604

NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)

SNV
Germline

Chr11:103177652

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA210494

rs_137853025

4 SubmittersRCV000006873 RCV003586122

NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)

SNV
Germline

Chr11:103304601

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA210496

rs_137853026

13 SubmittersRCV000006874 RCV000516063 RCV000726973 RCV004766983

NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)

SNV
Germline

Chr11:103220720

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Bowing of the long bones
Narrow chest
Fetal growth restriction
Short rib-polydactyly syndrome
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA210499

rs_137853027

22 SubmittersRCV000006876 RCV000224348 RCV000386710 RCV000415231 RCV000292391 RCV003924807

NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr)

SNV
Germline

Chr11:103155476

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA210501

rs_137853028

3 SubmittersRCV000006877 RCV003586123

NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)

SNV
Germline

Chr11:103125197

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA210505

rs_137853030

7 SubmittersRCV000006879 RCV001851709

NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)

SNV
Germline

Chr11:103185032

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210507

rs_137853031

7 SubmittersRCV000006880 RCV000515877 RCV000756059

NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)

SNV
Germline

Chr11:103209933

Pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA210509

rs_137853032

5 SubmittersRCV000006881 RCV002512856

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
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Finnish congenital nephrotic syndrome
Infantile nephronophthisis
Retinal dystrophy
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 RCV000763456 RCV000786982 RCV000857219 RCV001074967 RCV001003236 RCV001328175 RCV002251925 RCV004528134

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

SNV
Germline

Chr2:165899882

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259952

rs_766132877

4 SubmittersRCV000023926 RCV000857220 RCV001852034 RCV001535927

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
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Nephronophthisis
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129889

rs_201188361

14 SubmittersRCV000024363 RCV000255441 RCV000515934 RCV000626465 RCV001328311 RCV001249674 RCV004752723

NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)

SNV
Germline

Chr11:103117852

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA210579

rs_397514637

5 SubmittersRCV000033160 RCV000515863

NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)

SNV
Germline

Chr2:19941796

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 2
WDR35-related disorder
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344941

rs_199952377

11 SubmittersRCV000055830 RCV000288028 RCV000515864 RCV000648351 RCV000826131 RCV001557398

NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)

SNV
Germline

Chr9:128634726

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 11 with or without polydactyly
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA210603

rs_587777096

5 SubmittersRCV000083288 RCV000515829 RCV000730552

NM_014714.4(IFT140):c.874G>A (p.Val292Met)

SNV
Germline

Chr16:1587961

Pathogenic/Likely pathogenic

Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA149747

rs_431905521

6 SubmittersRCV000083297 RCV000515922 RCV000626469 RCV004579537 RCV004815018

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
Nephronophthisis 13
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA151414

rs_587777352

9 SubmittersRCV000115015 RCV000516054 RCV000681868 RCV001797626 RCV001212609 RCV002277157

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

SNV
Germline

Chr2:165917310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA231579

rs_139441507

8 SubmittersRCV000118723 RCV000244338 RCV000349862 RCV000407344 RCV001080770 RCV002277178

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

SNV
Germline

Chr2:165880687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA231581

rs_140384742

6 SubmittersRCV000118728 RCV001078717 RCV001131125 RCV001131126 RCV004529986

NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)

SNV
Germline

Chr11:103176255

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA233920

rs_150887098

8 SubmittersRCV000153167 RCV000167971 RCV000723911 RCV000764930 RCV003937422

NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)

SNV
Germline

Chr11:103154736

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
DYNC2H1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334700

rs_185613200

4 SubmittersRCV001087629 RCV003947443 RCV000334770

NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)

SNV
Germline

Chr11:103109607

Conflicting classifications of pathogenicity

Condition: not provided
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA238657

rs_373977008

4 SubmittersRCV000173202 RCV000260836 RCV001094004 RCV000316090

NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)

SNV
Germline

Chr11:103133567

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
DYNC2H1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA240268

rs_369040584

4 SubmittersRCV000174699 RCV001059059 RCV003955030 RCV004700534

NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)

SNV
Germline

Chr11:103133606

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
Short rib-polydactyly syndrome

Criteria Provided
Conflicting Classifications

CA240270

rs_189533535

3 SubmittersRCV000322835 RCV000174700 RCV000270084

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

SNV
Germline

Chr2:165917459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240377

rs_146320075

8 SubmittersRCV000174799 RCV000755750 RCV001078741 RCV000764280 RCV001134339 RCV004734779

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

SNV
Germline

Chr2:165913617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240782

rs_151309609

3 SubmittersRCV000175100 RCV000695456 RCV002485132

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

SNV
Germline

Chr2:165901892

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241983

rs_34489989

12 SubmittersRCV000304805 RCV000634201 RCV000398651 RCV000509503 RCV004537393

NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)

SNV
Germline

Chr11:103152204

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201826

rs_201310509

4 SubmittersRCV000176169 RCV000634183 RCV001657950

NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)

SNV
Germline

Chr11:103153387

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Intellectual disability
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA242179

rs_200466720

8 SubmittersRCV000723955 RCV001104213 RCV001086230 RCV001251985 RCV001818424 RCV003917636

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
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Chronic kidney disease
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA201936

rs_146496725

12 SubmittersRCV000176426 RCV000415806 RCV000986865 RCV001085304 RCV001135582 RCV001135581 RCV001171333 RCV002277374

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

SNV
Germline

Chr2:165888477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242578

rs_189122492

6 SubmittersRCV000176591 RCV001369448 RCV002478579 RCV003333035 RCV004734788

NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=)

SNV
Germline

Chr11:103158741

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA242757

rs_371259464

3 SubmittersRCV000176722 RCV000340322 RCV000402861 RCV001094032

NM_001377.3(DYNC2H1):c.4386C>T (p.Asn1462=)

SNV
Germline

Chr11:103160939

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA243030

rs_372442744

2 SubmittersRCV000176920 RCV002054083

NM_020800.3(IFT80):c.60G>A (p.Val20=)

SNV
Germline

Chr3:160381702

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA243472

rs_201088893

3 SubmittersRCV000177320 RCV000375111 RCV001517037

NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)

SNV
Germline

Chr11:103222987

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA246498

rs_202071528

5 SubmittersRCV000179218 RCV002516790 RCV003907625

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
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA246806

rs_149925563

9 SubmittersRCV000179530 RCV000724482 RCV000986867 RCV001087340 RCV001132639 RCV001132638 RCV004537489

NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)

SNV
Germline

Chr11:103236469

Conflicting classifications of pathogenicity

not specified
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203365

rs_140830294

6 SubmittersRCV000179614 RCV000263282 RCV000355641 RCV003884378

NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=)

SNV
Germline

Chr11:103321228

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA247876

rs_794727942

2 SubmittersRCV000180412 RCV003765105

NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=)

SNV
Germline

Chr11:103323957

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA247886

rs_775505863

2 SubmittersRCV000180419 RCV002517763

NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys)

SNV
Germline

Chr11:103358285

Conflicting classifications of pathogenicity

Condition: not provided
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA247890

rs_202216852

6 SubmittersRCV000180421 RCV000342139 RCV000380404 RCV001308566 RCV004816311

NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)

SNV
Germline

Chr11:103435986

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3
not specified

Criteria Provided
Conflicting Classifications

CA247899

rs_761765709

7 SubmittersRCV000228783 RCV000486569 RCV001105946 RCV004586603

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
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA338218

rs_34925776

5 SubmittersRCV000198827 RCV000417538 RCV001134079 RCV001134078 RCV002492924 RCV004734854

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

SNV
Germline

Chr2:165941053

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA337921

rs_777162250

1 SubmittersRCV001383380

NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)

SNV
Germline

Chr11:103177728

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Type IV short rib polydactyly syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA337424

rs_200190291

10 SubmittersRCV000197773 RCV001104104 RCV000516059 RCV000757203 RCV003155119

NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)

SNV
Germline

Chr11:103223030

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Condition: not provided
not specified
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA336633

rs_180787556

5 SubmittersRCV000196693 RCV000340509 RCV000756051 RCV000324546 RCV001093929

NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)

SNV
Germline

Chr11:103236534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA337070

rs_200342335

6 SubmittersRCV000413384 RCV000756057 RCV001104604 RCV001086170 RCV003927852

NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)

SNV
Germline

Chr11:103323958

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA337431

rs_61737514

4 SubmittersRCV000197780 RCV000613683 RCV000285064 RCV001093935

NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)

SNV
Germline

Chr11:103125195

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA350469

rs_864622357

3 SubmittersRCV000206436 RCV000757201 RCV003330579

NM_001377.3(DYNC2H1):c.2702+1G>A

SNV
Germline

Chr11:103143396

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA348357

rs_864622358

2 SubmittersRCV000204107 RCV003330580

NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)

SNV
Germline

Chr11:103155422

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA349219

rs_201194631

8 SubmittersRCV000205052 RCV000356294 RCV001094012 RCV001572773 RCV002517378 RCV004816356

NM_001377.3(DYNC2H1):c.9820-2A>G

SNV
Germline

Chr11:103243691

Likely pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350533

rs_864622111

2 SubmittersRCV000206518 RCV000414269

NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)

SNV
Germline

Chr11:103259930

Pathogenic/Likely pathogenic

Inborn genetic diseases
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
DYNC2H1-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA358022

rs_200460601

6 SubmittersRCV000210575 RCV000799119 RCV001333710 RCV001560184 RCV004742333 RCV004816358

NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter)

SNV
Germline

Chr11:103135727

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA382260189

rs_755883373

2 SubmittersRCV000490314 RCV002517442

NM_001377.3(DYNC2H1):c.11650-1G>A

SNV
Germline

Chr11:103316544

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10581260

rs_878852996

2 SubmittersRCV000224567 RCV003765453

NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)

SNV
Germline

Chr11:103155439

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified
Condition: not provided
Clinodactyly of the 5th finger
Cough
Anomalous origin of coronary artery from the pulmonary artery
Asphyxiating thoracic dystrophy 3
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6253373

rs_189806840

16 SubmittersRCV000231556 RCV000406282 RCV000726077 RCV000735390 RCV001106985 RCV004816439 RCV004816438

NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro)

SNV
Germline

Chr11:103170253

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10582777

rs_878854166

2 SubmittersRCV000487201 RCV000234493

NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter)

SNV
Germline

Chr11:103173242

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10582778

rs_754919042

2 SubmittersRCV000228263 RCV003454712

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

Criteria Provided
Conflicting Classifications

CA1941516

rs_149454830

7 SubmittersRCV000252032 RCV000861670 RCV001697725 RCV002518656 RCV002278217

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

SNV
Germline

Chr2:165901879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1941767

rs_76726265

8 SubmittersRCV000252244 RCV000861928 RCV001134204 RCV001134203 RCV001705374

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

SNV
Germline

Chr2:165915325

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1941956

rs_140757802

5 SubmittersRCV000516123 RCV001589274 RCV001854967 RCV004734898

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

Criteria Provided
Conflicting Classifications

CA1942274

rs_148866170

3 SubmittersRCV000250774 RCV001854968 RCV001570982

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_001377.3(DYNC2H1):c.12366+8A>G

SNV
Germline

Chr11:103399880

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Hirschsprung disease, susceptibility to, 1
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255516

rs_200404815

5 SubmittersRCV000270085 RCV000308814 RCV000508628 RCV001820801 RCV003909898

NM_014714.4(IFT140):c.1010-1G>A

SNV
Germline

Chr16:1586276

Pathogenic/Likely pathogenic

Condition: not provided
Saldino-Mainzer syndrome
Jeune thoracic dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA7814454

rs_770185023

7 SubmittersRCV000326779 RCV001055096 RCV000516131 RCV001376438 RCV002503978 RCV003155145

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
Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

CA1941809

rs_766811699

4 SubmittersRCV000360722 RCV001134207 RCV001134208 RCV001859543 RCV002487181

NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)

SNV
Germline

Chr11:103153376

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6253271

rs_191381310

7 SubmittersRCV000278291 RCV000332147 RCV000389075

NM_001377.3(DYNC2H1):c.1550A>G (p.His517Arg)

SNV
Germline

Chr11:103122889

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6252814

rs_375299740

3 SubmittersRCV000403421 RCV001404058 RCV004021082

NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)

SNV
Germline

Chr11:103184969

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6254001

rs_201967064

7 SubmittersRCV000365728 RCV000757199 RCV001078688 RCV003939950

NM_001377.3(DYNC2H1):c.1935A>T (p.Ala645=)

SNV
Germline

Chr11:103128987

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6252911

rs_368061315

2 SubmittersRCV000387912 RCV003586175

NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)

SNV
Germline

Chr11:103177774

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6253889

rs_372641908

6 SubmittersRCV000377802 RCV001459433 RCV001820808 RCV002519099

NM_001377.3(DYNC2H1):c.1249-6T>C

SNV
Germline

Chr11:103120919

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6252723

rs_753712960

2 SubmittersRCV000401517 RCV002518869

NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)

SNV
Germline

Chr11:103188505

Conflicting classifications of pathogenicity

Condition: not provided
DYNC2H1-related disorder
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6254173

rs_553516014

4 SubmittersRCV000395024 RCV003967721 RCV003748217

NM_020800.3(IFT80):c.2307C>T (p.Ser769=)

SNV
Germline

Chr3:160258552

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA2684912

rs_565364572

2 SubmittersRCV000279841 RCV001452408

NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His)

SNV
Germline

Chr11:103156437

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253416

rs_200635842

4 SubmittersRCV000276292 RCV000333726 RCV000725495 RCV002059157

NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)

SNV
Germline

Chr11:103209902

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6254466

rs_370627443

6 SubmittersRCV000725554 RCV001082732 RCV001107258

NM_001377.3(DYNC2H1):c.5496G>A (p.Ser1832=)

SNV
Germline

Chr11:103173243

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253775

rs_555082393

2 SubmittersRCV000260763 RCV002518978

NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys)

SNV
Germline

Chr11:103168908

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA6253654

rs_200239560

4 SubmittersRCV000380841 RCV000820489 RCV001000057

NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)

SNV
Germline

Chr11:103121495

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6252780

rs_202233363

7 SubmittersRCV000289184 RCV000860672 RCV001105762 RCV001718586 RCV003940047

NM_001377.3(DYNC2H1):c.10713C>T (p.Phe3571=)

SNV
Germline

Chr11:103280365

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10606052

rs_886043866

2 SubmittersRCV000401039 RCV003748218

NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu)

SNV
Germline

Chr11:103479238

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Inborn genetic diseases
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255711

rs_191971137

5 SubmittersRCV000259300 RCV000322811 RCV000377480 RCV002522011 RCV002059278

NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)

SNV
Germline

Chr11:103170186

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6253683

rs_201563576

6 SubmittersRCV000334410 RCV000726544 RCV001088693 RCV001332760 RCV002522036 RCV003967802

NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)

SNV
Germline

Chr11:103176358

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6253835

rs_201829296

5 SubmittersRCV000346343 RCV001078803 RCV001332762 RCV002518147 RCV004742371

NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln)

SNV
Germline

Chr11:103253441

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6254910

rs_775615484

5 SubmittersRCV000268031 RCV000544278 RCV001107351 RCV002518148 RCV004816516

NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)

SNV
Germline

Chr11:103456351

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255630

rs_142920070

6 SubmittersRCV000348431 RCV001505716 RCV003144196 RCV002519356 RCV004725149

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942424

rs_568969576

4 SubmittersRCV000278829 RCV000336979 RCV001520464 RCV004537842 RCV004965416

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
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1941701

rs_747246700

4 SubmittersRCV000334319 RCV000372660 RCV001861133 RCV002480176 RCV004735470

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
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1941664

rs_146201603

3 SubmittersRCV000277941 RCV000330744 RCV000465241 RCV004735469

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

SNV
Germline

Chr2:165907774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1941818

rs_114725374

9 SubmittersRCV000310489 RCV000365262 RCV000842292 RCV001477199 RCV001729542 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
Inborn genetic diseases
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1941888

rs_183367929

6 SubmittersRCV000263172 RCV000318231 RCV000634198 RCV000756833 RCV002521311 RCV004537839

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

SNV
Germline

Chr2:165919372

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA1942076

rs_573290536

2 SubmittersRCV000267097 RCV000326837 RCV002521312

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

7 SubmittersRCV000281585 RCV000387559 RCV000756834 RCV001859969 RCV004537838

NM_020800.3(IFT80):c.897G>A (p.Val299=)

SNV
Germline

Chr3:160319820

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified
Asphyxiating thoracic dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2685317

rs_145776235

5 SubmittersRCV000308038 RCV000597698 RCV001094800 RCV004808692

NM_020800.3(IFT80):c.710G>A (p.Trp237Ter)

SNV
Germline

Chr3:160356080

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10615178

rs_201858128

2 SubmittersRCV000273212 RCV003748223

NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp)

SNV
Germline

Chr3:160279351

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2685070

rs_202145480

4 SubmittersRCV000336393 RCV001001024 RCV004021897

NM_020800.3(IFT80):c.1326C>T (p.Leu442=)

SNV
Germline

Chr3:160285858

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10617599

rs_886058131

2 SubmittersRCV000397470 RCV001470952

NM_020800.3(IFT80):c.1053G>A (p.Thr351=)

SNV
Germline

Chr3:160307686

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10617603

rs_746236656

2 SubmittersRCV000401716 RCV002057853

NM_020800.3(IFT80):c.2289A>G (p.Gln763=)

SNV
Germline

Chr3:160258570

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA2684917

rs_142438830

2 SubmittersRCV000324014 RCV001401824

NM_020800.3(IFT80):c.807T>C (p.Thr269=)

SNV
Germline

Chr3:160319910

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 2
Connective tissue disorder
IFT80-related disorder

Criteria Provided
Conflicting Classifications

CA2685339

rs_372419950

4 SubmittersRCV000365085 RCV001094806 RCV002278539 RCV003969991

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

SNV
Germline

Chr4:39216209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2891800

rs_772867899

4 SubmittersRCV000298705 RCV000400723 RCV002480216 RCV001850849 RCV004021962

NM_025132.4(WDR19):c.1249+9A>G

SNV
Germline

Chr4:39216219

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Cranioectodermal dysplasia
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2891801

rs_201377206

3 SubmittersRCV000353502 RCV000401556 RCV000878418 RCV002278577

NM_025132.4(WDR19):c.1134+13T>G

SNV
Germline

Chr4:39216026

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
Jeune thoracic dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2891781

rs_374615138

2 SubmittersRCV000286504 RCV000380856 RCV002057926

NM_001377.3(DYNC2H1):c.195+7T>C

SNV
Germline

Chr11:103109776

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6252404

rs_112718117

7 SubmittersRCV000294768 RCV000417608 RCV000389309 RCV001094005 RCV001573530

NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)

SNV
Germline

Chr11:103113632

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6252442

rs_377529350

4 SubmittersRCV000288024 RCV000404648 RCV003391062 RCV004816539

NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)

SNV
Germline

Chr11:103135533

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6252992

rs_373707570

4 SubmittersRCV000321465 RCV000373741 RCV000831514 RCV001820882

NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=)

SNV
Germline

Chr11:103155492

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
not specified
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6253380

rs_377584612

4 SubmittersRCV000298010 RCV000355149 RCV000601156 RCV002056167 RCV003950013

NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)

SNV
Germline

Chr11:103168951

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6253662

rs_201863754

2 SubmittersRCV000324326 RCV000376673

NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)

SNV
Germline

Chr11:103170911

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6253719

rs_564701277

3 SubmittersRCV000285600 RCV000317227 RCV003977869

NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)

SNV
Germline

Chr11:103173219

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA10629727

rs_886047564

2 SubmittersRCV000307675 RCV000406056

NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)

SNV
Germline

Chr11:103174138

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified

Criteria Provided
Conflicting Classifications

CA6253806

rs_199541807

4 SubmittersRCV000260188 RCV000354946 RCV000506609

NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)

SNV
Germline

Chr11:103176353

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Neonatal respiratory distress
Optic atrophy

Criteria Provided
Conflicting Classifications

CA6253833

rs_185504536

8 SubmittersRCV000345802 RCV000381704 RCV001093954 RCV001526643 RCV004816540

NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn)

SNV
Germline

Chr11:103191541

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6254244

rs_201825699

3 SubmittersRCV000336961 RCV000403491 RCV002056168 RCV000756056

NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)

SNV
Germline

Chr11:103203758

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6254426

rs_199503535

2 SubmittersRCV000280119 RCV000379302

NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)

SNV
Germline

Chr11:103243738

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6254816

rs_200326353

4 SubmittersRCV000276087 RCV000333523 RCV001706449 RCV004816543

NM_001377.3(DYNC2H1):c.12456+7C>T

SNV
Germline

Chr11:103436039

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255559

rs_372189534

2 SubmittersRCV000318716 RCV000373322 RCV003748221

NM_001377.3(DYNC2H1):c.12457-13T>C

SNV
Germline

Chr11:103455173

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255571

rs_537890566

2 SubmittersRCV000259895 RCV000324456 RCV002056171

NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=)

SNV
Germline

Chr11:103455224

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255588

rs_202199079

2 SubmittersRCV000339422 RCV000384586 RCV002520667

NM_001377.3(DYNC2H1):c.*211A>G

SNV
Germline

Chr11:103479464

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10629744

rs_148091830

1 SubmittersRCV000273036 RCV000328084

NM_001377.3(DYNC2H1):c.366+10G>A

SNV
Germline

Chr11:103113717

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6252466

rs_200257097

2 SubmittersRCV000303471 RCV000358300

NM_001377.3(DYNC2H1):c.1000-7A>G

SNV
Germline

Chr11:103120440

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10633182

rs_745325616

2 SubmittersRCV000291064 RCV000383108

NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)

SNV
Germline

Chr11:103120939

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6252728

rs_142881106

7 SubmittersRCV000298665 RCV000369703 RCV000431766 RCV000766586 RCV001820881 RCV003930276

NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=)

SNV
Germline

Chr11:103122845

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6252806

rs_754192939

2 SubmittersRCV000329334 RCV000362969 RCV002522174

NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val)

SNV
Germline

Chr11:103154567

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6253314

rs_201043335

4 SubmittersRCV000292379 RCV000349630 RCV001093957 RCV002281082

NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=)

SNV
Germline

Chr11:103156645

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10633191

rs_886047562

2 SubmittersRCV000328244 RCV000385075 RCV003586176

NM_001377.3(DYNC2H1):c.4127+10A>G

SNV
Germline

Chr11:103156780

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253466

rs_369188420

3 SubmittersRCV000282874 RCV000379732 RCV002520663

NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)

SNV
Germline

Chr11:103170946

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6253725

rs_370669724

2 SubmittersRCV000281964 RCV000371817

NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)

SNV
Germline

Chr11:103171047

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253735

rs_144553338

2 SubmittersRCV000336896 RCV000392514 RCV002522176

NM_001377.3(DYNC2H1):c.5335-14A>G

SNV
Germline

Chr11:103173068

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome

Criteria Provided
Conflicting Classifications

CA6253749

rs_372488002

2 SubmittersRCV000292310 RCV000351891

NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)

SNV
Germline

Chr11:103173258

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6253777

rs_201953670

2 SubmittersRCV000362121 RCV000402496

NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)

SNV
Germline

Chr11:103188499

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6254172

rs_79832792

4 SubmittersRCV000300852 RCV000391791 RCV001706448 RCV001094018

NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)

SNV
Germline

Chr11:103198006

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA10633204

rs_886047566

2 SubmittersRCV000272195 RCV000362360

NM_001377.3(DYNC2H1):c.8311+10A>G

SNV
Germline

Chr11:103203786

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6254430

rs_376842066

3 SubmittersRCV000316619 RCV000375814 RCV003957569

NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu)

SNV
Germline

Chr11:103204875

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
not specified
Jeune thoracic dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6254448

rs_184910011

4 SubmittersRCV000296242 RCV000390865 RCV000507317 RCV002056169 RCV004816542

NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)

SNV
Germline

Chr11:103245271

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6254837

rs_192003811

6 SubmittersRCV000269938 RCV000380832 RCV000756052 RCV000727890

NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)

SNV
Germline

Chr11:103283040

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255083

rs_187451323

4 SubmittersRCV000295904 RCV000343805 RCV001093934 RCV003957570

NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)

SNV
Germline

Chr11:103303235

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255184

rs_78599571

5 SubmittersRCV000289052 RCV000599983 RCV000381067 RCV001093989 RCV003930278

NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)

SNV
Germline

Chr11:103399760

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA6255498

rs_115480556

4 SubmittersRCV000311028 RCV000393092 RCV000602673

NM_001377.3(DYNC2H1):c.1134+8A>G

SNV
Germline

Chr11:103120589

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Condition: not provided
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6252684

rs_138290301

3 SubmittersRCV000281528 RCV000406367 RCV000734380 RCV001093950

NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)

SNV
Germline

Chr11:103135853

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6253048

rs_201224700

4 SubmittersRCV000312587 RCV000346432 RCV003456390 RCV002522175

NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)

SNV
Germline

Chr11:103152201

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
not specified
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6253238

rs_202082545

5 SubmittersRCV000260715 RCV000371754 RCV000605993 RCV003615834

NM_001377.3(DYNC2H1):c.4611+14C>T

SNV
Germline

Chr11:103163161

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253594

rs_766124250

2 SubmittersRCV000312391 RCV000364772

NM_001377.3(DYNC2H1):c.6139+7C>T

SNV
Germline

Chr11:103177827

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253900

rs_200749262

2 SubmittersRCV000291914 RCV000346872

NM_001377.3(DYNC2H1):c.8833-3T>C

SNV
Germline

Chr11:103219912

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6254552

rs_551227065

3 SubmittersRCV000316951 RCV000353101 RCV002272208

NM_001377.3(DYNC2H1):c.8946+10A>C

SNV
Germline

Chr11:103220038

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified

Criteria Provided
Conflicting Classifications

CA6254567

rs_550521675

3 SubmittersRCV000262812 RCV000317928 RCV001820883

NM_001377.3(DYNC2H1):c.9231+12G>A

SNV
Germline

Chr11:103222165

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6254629

rs_369045696

4 SubmittersRCV000290173 RCV000393602 RCV000427164 RCV003910104

NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)

SNV
Germline

Chr11:103243719

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10636927

rs_886047572

2 SubmittersRCV000311264 RCV000368228

NM_001377.3(DYNC2H1):c.10043-7T>A

SNV
Germline

Chr11:103253278

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6254876

rs_376067770

5 SubmittersRCV000286468 RCV000378511 RCV000731907

NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)

SNV
Germline

Chr11:103283043

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255084

rs_199958495

2 SubmittersRCV000308889 RCV000401909

NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met)

SNV
Germline

Chr11:103283071

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
not specified
Inborn genetic diseases
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255093

rs_201852557

5 SubmittersRCV000365937 RCV000404875 RCV002056170 RCV001820884 RCV002520665 RCV003977870

NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)

SNV
Germline

Chr11:103316598

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6255349

rs_144624858

4 SubmittersRCV000277569 RCV000369823 RCV001705450

NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)

SNV
Germline

Chr11:103321232

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6255397

rs_757571550

3 SubmittersRCV000325509 RCV000382475 RCV004975425

NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)

SNV
Germline

Chr11:103399822

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome

Criteria Provided
Conflicting Classifications

CA6255507

rs_139902197

2 SubmittersRCV000349397 RCV000405670

NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)

SNV
Germline

Chr11:103479194

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified

Criteria Provided
Conflicting Classifications

CA6255705

rs_144717489

4 SubmittersRCV000267688 RCV000353080 RCV000440014

NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)

SNV
Germline

Chr11:103120454

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Inborn genetic diseases
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6252667

rs_182506343

5 SubmittersRCV000327096 RCV000379403 RCV002520661 RCV001093949 RCV003417982 RCV001251986

NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)

SNV
Germline

Chr11:103135924

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6253059

rs_375307767

3 SubmittersRCV000306769 RCV000394066 RCV001552582

NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)

SNV
Germline

Chr11:103155417

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
not specified
Condition: not provided
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6253369

rs_118191062

6 SubmittersRCV000343361 RCV000304894 RCV000440654 RCV001726098 RCV001094011

NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)

SNV
Germline

Chr11:103179193

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6253944

rs_201003494

4 SubmittersRCV000302504 RCV000405505 RCV001251984

NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=)

SNV
Germline

Chr11:103184976

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy
Condition: not provided
DYNC2H1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6254002

rs_199675558

5 SubmittersRCV000263018 RCV000299438 RCV001401818 RCV003391063 RCV003930277 RCV004816541

NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=)

SNV
Germline

Chr11:103245353

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10637346

rs_886047573

2 SubmittersRCV000327276 RCV000384151 RCV003748220

NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)

SNV
Germline

Chr11:103253394

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA10637350

rs_886047574

2 SubmittersRCV000336349 RCV000407390

NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=)

SNV
Germline

Chr11:103311962

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255319

rs_777253444

2 SubmittersRCV000305217 RCV000392709 RCV003765785

NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)

SNV
Germline

Chr11:103253342

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Intellectual disability
Jeune thoracic dystrophy
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6254888

rs_759549373

6 SubmittersRCV000408613 RCV001252223 RCV001865253 RCV003317202 RCV004742408

NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)

SNV
Germline

Chr11:103255530

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6254944

rs_771487311

7 SubmittersRCV000515875 RCV000408623 RCV000516064 RCV001805030

NM_001377.3(DYNC2H1):c.6625A>T (p.Thr2209Ser)

SNV
Germline

Chr11:103185043

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6254014

rs_200762072

3 SubmittersRCV000414720 RCV002058868 RCV002523953

NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)

SNV
Germline

Chr11:103165911

Likely pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042810

rs_1043384862

5 SubmittersRCV000413597 RCV000502405 RCV003766152

NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)

SNV
Germline

Chr11:103436015

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
not specified

Criteria Provided
Conflicting Classifications

CA6255552

rs_755441612

5 SubmittersRCV000428176 RCV000704632 RCV001291163 RCV002307497

NM_001377.3(DYNC2H1):c.10883C>T (p.Thr3628Ile)

SNV
Germline

Chr11:103283078

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16606133

rs_1057524234

3 SubmittersRCV000443989 RCV002522652 RCV002522653

NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=)

SNV
Germline

Chr11:103456330

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255624

rs_752163457

3 SubmittersRCV000424319 RCV001108173 RCV003766316

NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)

SNV
Germline

Chr3:160303973

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Type IV short rib polydactyly syndrome
Asphyxiating thoracic dystrophy 2
IFT80-related disorder

Criteria Provided
Conflicting Classifications

CA2685255

rs_140202230

5 SubmittersRCV000465513 RCV000515813 RCV001803759 RCV003942476

NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)

SNV
Germline

Chr3:160356069

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Asphyxiating thoracic dystrophy 2
IFT80-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2685388

rs_138004478

6 SubmittersRCV000474945 RCV000516104 RCV000727148 RCV003103777 RCV004758018

NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)

SNV
Germline

Chr11:103257731

Pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Single Submitter

CA16612953

rs_562139820

3 SubmittersRCV000459333 RCV001291287

NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)

SNV
Germline

Chr1:225404655

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Regressive spondylometaphyseal dysplasia
Condition: not provided
LBR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1417117

rs_754049402

6 SubmittersRCV000516056 RCV001330715 RCV002526980 RCV003987561

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

SNV
Germline

Chr2:165941186

Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA1942393

rs_773580610

2 SubmittersRCV000479541 RCV001377359

NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)

SNV
Germline

Chr11:103177664

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6253872

rs_552436294

6 SubmittersRCV000483501 RCV000515935 RCV001291051 RCV003401520

NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)

SNV
Germline

Chr11:103253440

Pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16619091

rs_943680446

7 SubmittersRCV000486867 RCV001253670 RCV002526956

NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)

SNV
Germline

Chr17:6623016

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Familial aplasia of the vermis
Jeune thoracic dystrophy
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV

Criteria Provided
Multiple Submitters
No Conflicts

CA8330639

rs_746068882

7 SubmittersRCV000590973 RCV000984622 RCV001269779 RCV001559335 RCV002248721

NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr17:6623043

Pathogenic

Jeune thoracic dystrophy
Familial aplasia of the vermis
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly

Criteria Provided
Single Submitter

CA8330644

rs_762771340

3 SubmittersRCV000590971 RCV000760916 RCV001559336

NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg)

SNV
Germline

Chr11:103198008

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6254332

rs_755505546

3 SubmittersRCV002269279 RCV003766765

NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)

SNV
Germline

Chr11:103117818

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA227400517

rs_778594253

3 SubmittersRCV000504077 RCV002527243 RCV003892133

NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)

SNV
Germline

Chr11:103129005

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA476608713

rs_1178331074

5 SubmittersRCV000500337 RCV000515832 RCV001764498

NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)

SNV
Germline

Chr11:103173196

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6253763

rs_200208000

5 SubmittersRCV000508350 RCV000862552 RCV001107079 RCV004591452

NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)

SNV
Germline

Chr11:103253384

Pathogenic/Likely pathogenic

not specified
Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA6254891

rs_368631447

8 SubmittersRCV000508370 RCV000984619 RCV001269722 RCV001291158

NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys)

SNV
Germline

Chr11:103177653

Pathogenic/Likely pathogenic

not specified
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA382246068

rs_1202784860

2 SubmittersRCV000507888 RCV003766877

NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter)

SNV
Germline

Chr3:160268436

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA2684946

rs_375941259

2 SubmittersRCV000506151 RCV001230221

NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)

SNV
Germline

Chr1:225411351

Likely pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Single Submitter

CA344996417

rs_1236962991

3 SubmittersRCV000515924 RCV002527448

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

SNV
Germline

Chr2:165907746

Pathogenic

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

Criteria Provided
Single Submitter

CA1941813

rs_79746977

5 SubmittersRCV000515936 RCV003151077 RCV002525013 RCV004541600

NM_024753.5(TTC21B):c.1397C>A (p.Pro466His)

SNV
Germline

Chr2:165924668

Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA349062475

rs_1453462442

2 SubmittersRCV000516140

NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)

SNV
Germline

Chr2:19935529

Pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Single Submitter

CA345942957

rs_1553316926

3 SubmittersRCV000516006 RCV004721404

NM_020779.4(WDR35):c.1400+3A>G

SNV
Germline

Chr2:19953831

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA1543244

rs_776631281

2 SubmittersRCV000516020

NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)

SNV
Germline

Chr2:19969556

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic
Short-rib thoracic dysplasia 7 with or without polydactyly
Short rib-polydactyly syndrome
Cranioectodermal dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1543388

rs_200649783

7 SubmittersRCV000516065 RCV000578486 RCV000608080 RCV000755748 RCV000851218 RCV001353118 RCV001764511

NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe)

SNV
Germline

Chr3:160280770

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA355191342

rs_1553753582

2 SubmittersRCV000515810

NM_020800.3(IFT80):c.572T>A (p.Ile191Asn)

SNV
Germline

Chr3:160357556

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA2685433

rs_372576954

2 SubmittersRCV000515954

NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)

SNV
Germline

Chr4:127687706

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA358147148

rs_1227833863

2 SubmittersRCV000515956

NM_015693.4(INTU):c.1628G>A (p.Arg543His)

SNV
Germline

Chr4:127705652

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA3075153

rs_34027211

2 SubmittersRCV000515931

NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)

SNV
Germline

Chr4:169561850

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA109931382

rs_992324423

2 SubmittersRCV000515992

NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)

SNV
Germline

Chr4:39205592

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA356634279

rs_1553905326

2 SubmittersRCV000515976

NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)

SNV
Germline

Chr4:39205726

Pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA2891724

rs_377160857

3 SubmittersRCV000516052 RCV001851417

NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)

SNV
Germline

Chr4:39224887

Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356631901

rs_1215108056

3 SubmittersRCV000516069 RCV001316218

NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr4:39244470

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA2892116

rs_772599282

2 SubmittersRCV000515874

NM_025132.4(WDR19):c.3716+1G>A

SNV
Germline

Chr4:39274959

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA356651027

rs_1191056931

2 SubmittersRCV000515837

NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)

SNV
Germline

Chr4:39277103

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA2892485

rs_745603321

2 SubmittersRCV000516083

NM_147127.5(EVC2):c.3360+1G>A

SNV
Germline

Chr4:5574684

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356150501

rs_1553815019

4 SubmittersRCV000516027 RCV000673627 RCV003766905

NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)

SNV
Germline

Chr4:5689244

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2835384

rs_761707323

6 SubmittersRCV000516039 RCV000667862 RCV001388085 RCV003915444

NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)

SNV
Germline

Chr7:158926234

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
See cases
DYNC2I1-related disorder
Short-rib thoracic dysplasia 8 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA4594938

rs_193204571

5 SubmittersRCV000516105 RCV001291411 RCV003156100 RCV003915443 RCV002230998

NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser)

SNV
Germline

Chr9:128635138

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA375115153

rs_1554771175

2 SubmittersRCV000515969

NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)

SNV
Germline

Chr9:128636919

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short-rib thoracic dysplasia 11 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5266584

rs_555811074

4 SubmittersRCV000515869 RCV002231195 RCV003321641

NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)

SNV
Germline

Chr9:27029104

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA5015490

rs_759662469

2 SubmittersRCV000515865

NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)

SNV
Germline

Chr11:103113668

Pathogenic

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6252449

rs_755305630

4 SubmittersRCV001291292 RCV002275047 RCV003586192

NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)

SNV
Germline

Chr11:103116573

Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Single Submitter

CA6252556

rs_771511132

3 SubmittersRCV000516133 RCV001291052

NM_001377.3(DYNC2H1):c.767-2A>G

SNV
Germline

Chr11:103117629

Pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA6252602

rs_762873763

3 SubmittersRCV001291050 RCV003586191

NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr11:103120525

Pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA6252675

rs_764769351

3 SubmittersRCV001291040 RCV001851415

NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)

SNV
Germline

Chr11:103120705

Pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6252702

rs_369614706

4 SubmittersRCV000516108 RCV001577701

NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)

SNV
Germline

Chr11:103120982

Pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA6252736

rs_371011047

5 SubmittersRCV000516025 RCV001353119

NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp)

SNV
Germline

Chr11:103135630

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

No Assertion Criteria Provided

CA382260043

rs_1555043520

2 SubmittersRCV000516111 RCV001291043

NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)

SNV
Germline

Chr11:103152248

Pathogenic/Likely pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6253248

rs_373335226

4 SubmittersRCV000521701 RCV001291393 RCV003748238

NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)

SNV
Germline

Chr11:103158916

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6253522

rs_745870321

7 SubmittersRCV000755107 RCV001584228 RCV001857883

NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr)

SNV
Germline

Chr11:103160971

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA382238849

rs_1555052511

2 SubmittersRCV000516125

NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr)

SNV
Germline

Chr11:103163089

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA382239171

rs_1555053115

3 SubmittersRCV000516112

NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val)

SNV
Germline

Chr11:103165985

Pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227396060

rs_901629870

4 SubmittersRCV001092187 RCV001291402 RCV003766901

NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)

SNV
Germline

Chr11:103170226

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6253689

rs_751030969

5 SubmittersRCV000515916 RCV003326448 RCV003230527

NM_001377.3(DYNC2H1):c.5558+2T>C

SNV
Germline

Chr11:103173307

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA6253789

rs_762666243

3 SubmittersRCV000515862

NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)

SNV
Germline

Chr11:103177665

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA227403247

rs_963717773

4 SubmittersRCV000516046 RCV003332188

NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His)

SNV
Germline

Chr11:103177797

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA382246660

rs_1555057503

4 SubmittersRCV001291045 RCV003748239 RCV004526694

NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser)

SNV
Germline

Chr11:103179047

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA382246951

rs_1555057838

2 SubmittersRCV000516127

NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)

SNV
Germline

Chr11:103179151

Likely pathogenic

Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Single Submitter

CA6253928

rs_753662982

3 SubmittersRCV000516124 RCV003424069

NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)

SNV
Germline

Chr11:103184898

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253989

rs_775426647

4 SubmittersRCV001291047 RCV001857882

NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)

SNV
Germline

Chr11:103187356

Pathogenic/Likely pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6254108

rs_747348765

7 SubmittersRCV000521573 RCV001291177 RCV000754936 RCV003419889

NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)

SNV
Germline

Chr11:103189788

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382253944

rs_1555062849

4 SubmittersRCV000634179 RCV001291285 RCV002281100

NM_001377.3(DYNC2H1):c.7438-2A>G

SNV
Germline

Chr11:103191515

Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA382254014

rs_1555063811

3 SubmittersRCV001291279 RCV003748237

NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)

SNV
Germline

Chr11:103191520

Pathogenic

Jeune thoracic dystrophy
not specified
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA6254239

rs_537704873

5 SubmittersRCV000515965 RCV001000998 RCV003989547

NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)

SNV
Germline

Chr11:103192150

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382254374

rs_1350329646

9 SubmittersRCV000515993 RCV001199059 RCV001543510

NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)

SNV
Germline

Chr11:103199333

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA6254356

rs_758155107

2 SubmittersRCV000516047

NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)

SNV
Germline

Chr11:103199354

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA6254362

rs_371214841

4 SubmittersRCV001291277 RCV003748236 RCV003230526

NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)

SNV
Germline

Chr11:103199355

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6254363

rs_200614421

5 SubmittersRCV000515843 RCV000860526 RCV000991172

NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)

SNV
Germline

Chr11:103199400

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA382256730

rs_1196317554

5 SubmittersRCV000515910 RCV001541195 RCV004701583

NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)

SNV
Germline

Chr11:103199438

Pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA6254376

rs_747857715

3 SubmittersRCV001291289 RCV003748243

NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys)

SNV
Germline

Chr11:103200154

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA227412382

rs_969015057

2 SubmittersRCV000515825

NM_001377.3(DYNC2H1):c.8311+1G>A

SNV
Germline

Chr11:103203777

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA382257957

rs_1555068270

2 SubmittersRCV000516089

NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro)

SNV
Germline

Chr11:103215755

Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA382261264

rs_1555071484

3 SubmittersRCV001291172 RCV001851416

NM_001377.3(DYNC2H1):c.9353+1G>A

SNV
Germline

Chr11:103223087

Pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder

Criteria Provided
Single Submitter

CA6254660

rs_776407305

4 SubmittersRCV000516136 RCV001291164 RCV004742473

NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter)

SNV
Germline

Chr11:103234158

Pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA6254715

rs_373924400

3 SubmittersRCV001291397 RCV002527447

NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn)

SNV
Germline

Chr11:103243717

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6254811

rs_780600124

5 SubmittersRCV001291278 RCV001269528 RCV001857880

NM_001377.3(DYNC2H1):c.10042+2T>G

SNV
Germline

Chr11:103245376

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Asphyxiating thoracic dystrophy 3
Autosomal recessive polycystic kidney disease
Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA382246199

rs_1261505725

5 SubmittersRCV000516017 RCV001291173 RCV001328199 RCV003159657 RCV001857881

NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys)

SNV
Germline

Chr11:103253341

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA227414214

rs_200710887

3 SubmittersRCV000515818

NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu)

SNV
Germline

Chr11:103253347

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA382248047

rs_1555081345

2 SubmittersRCV000516008

NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)

SNV
Germline

Chr11:103257719

Pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6255008

rs_181011657

7 SubmittersRCV000532727 RCV000578494 RCV002473030

NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser)

SNV
Germline

Chr11:103479135

Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Single Submitter

CA382290910

rs_1555143920

3 SubmittersRCV000515860 RCV004820855

NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)

SNV
Germline

Chr11:103479158

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6255695

rs_368654019

5 SubmittersRCV000515988 RCV001291280 RCV001597152

NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro)

SNV
Germline

Chr13:20663516

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA387476643

rs_373832683

2 SubmittersRCV000516068

NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)

SNV
Germline

Chr14:75985794

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA7280567

rs_144776609

2 SubmittersRCV000515914

NM_025129.5(FUZ):c.851G>T (p.Arg284Leu)

SNV
Germline

Chr19:49808759

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

No Assertion Criteria Provided

CA9584334

rs_368721486

2 SubmittersRCV000515994

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

SNV
Germline

Chr2:165912581

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
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

Nephronophthisis
Jeune thoracic dystrophy
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_001377.3(DYNC2H1):c.4379-1G>C

SNV
Germline

Chr11:103160931

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA382238751

rs_1555052497

1 SubmittersRCV000536512

NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu)

SNV
Germline

Chr11:103253342

Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

CA382248031

rs_759549373

2 SubmittersRCV000578487 RCV003586194

NM_001377.3(DYNC2H1):c.11493+2T>A

SNV
Germline

Chr11:103307833

Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA382262231

rs_1555096711

2 SubmittersRCV000579324 RCV000823429

NM_001377.3(DYNC2H1):c.5334+6G>A

SNV
Germline

Chr11:103171074

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6253739

rs_372964069

3 SubmittersRCV000598324 RCV001086438

NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)

SNV
Germline

Chr11:103321208

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 3
Intellectual disability
Jeune thoracic dystrophy
Inborn genetic diseases
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255393

rs_189100009

6 SubmittersRCV000595074 RCV000764931 RCV001251977 RCV002065172 RCV003160051 RCV004742532

NM_001377.3(DYNC2H1):c.1662-3T>C

SNV
Germline

Chr11:103125097

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA6252856

rs_548328948

3 SubmittersRCV000595541 RCV001080633 RCV001106877

NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)

SNV
Germline

Chr3:160268478

Conflicting classifications of pathogenicity

Condition: not provided
Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA2684949

rs_201820395

4 SubmittersRCV000593105 RCV000764474 RCV001085371

NM_001377.3(DYNC2H1):c.999+7A>G

SNV
Germline

Chr11:103117870

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6252650

rs_766672853

2 SubmittersRCV000593238 RCV002532664

NM_024753.5(TTC21B):c.3874-14T>C

SNV
Germline

Chr2:165874846

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1941349

rs_200347449

4 SubmittersRCV000612511 RCV001130402 RCV001130403 RCV001520867 RCV001811098

NM_001377.3(DYNC2H1):c.12039+15A>G

SNV
Germline

Chr11:103324005

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

CA6255442

rs_184350782

3 SubmittersRCV000604425 RCV001102880 RCV002062975

NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=)

SNV
Germline

Chr11:103158961

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6253528

rs_367841359

4 SubmittersRCV000860640 RCV001104018 RCV001697891

NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)

SNV
Germline

Chr2:165943260

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Jeune thoracic dystrophy
Connective tissue disorder
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

CA1942419

rs_199821354

5 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_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys)

SNV
Germline

Chr11:103185031

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6254013

rs_750689118

3 SubmittersRCV000634178 RCV001597191

NM_024753.5(TTC21B):c.152-2A>G

SNV
Germline

Chr2:165949506

Likely pathogenic

Asphyxiating thoracic dystrophy 4
Nephronophthisis
Jeune thoracic dystrophy

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
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_369159801

3 SubmittersRCV000657791 RCV000778568 RCV001861684

NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter)

SNV
Germline

Chr11:103116677

Pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565311145

2 SubmittersRCV000754941 RCV001269657

NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)

SNV
Germline

Chr11:103122879

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

rs_1565317399

4 SubmittersRCV000754943 RCV001269813 RCV004547846

NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)

SNV
Germline

Chr11:103125293

Pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1260978141

3 SubmittersRCV000754942 RCV001269846

NM_001377.3(DYNC2H1):c.2574+1G>A

SNV
Germline

Chr11:103135949

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565329461

3 SubmittersRCV000754948 RCV002227206 RCV003319397

NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val)

SNV
Germline

Chr11:103176331

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_1565368733

2 SubmittersRCV000754940

NM_001377.3(DYNC2H1):c.6478-16G>A

SNV
Germline

Chr11:103184880

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_376892534

1 SubmittersRCV000754950

NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr)

SNV
Germline

Chr11:103199307

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1265669915

2 SubmittersRCV000754933 RCV001269529

NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)

SNV
Germline

Chr11:103199391

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764468030

2 SubmittersRCV000754935 RCV001269834

NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn)

SNV
Germline

Chr11:103204954

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1565394254

2 SubmittersRCV000754937 RCV001269661

NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=)

SNV
Germline

Chr11:103287559

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764926983

5 SubmittersRCV000754951 RCV003221356 RCV004723058

NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter)

SNV
Germline

Chr14:75988903

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short-rib thoracic dysplasia 18 with polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780404339

3 SubmittersRCV000754952 RCV002307587 RCV003727803

NM_015681.6(B9D1):c.467G>C (p.Arg156Pro)

SNV
Germline

Chr17:19343795

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_886038205

2 SubmittersRCV000754944 RCV001269814

NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)

SNV
Germline

Chr17:6624770

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Jeune thoracic dystrophy
Familial aplasia of the vermis
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV

Criteria Provided
Conflicting Classifications

rs_752659088

6 SubmittersRCV000754953 RCV000984620 RCV001269992 RCV001559339 RCV004812351

NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)

SNV
Germline

Chr2:165930358

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1437304335

3 SubmittersRCV000707517 RCV002279494 RCV003313138

NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter)

SNV
Germline

Chr11:103135524

Pathogenic

Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1309577378

2 SubmittersRCV000696242 RCV003226971

NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter)

SNV
Germline

Chr11:103241546

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1565423740

1 SubmittersRCV000687230

NM_001377.3(DYNC2H1):c.6347+1G>A

SNV
Germline

Chr11:103179234

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1565371538

1 SubmittersRCV000704413

NM_001177701.3(IFT27):c.234+1G>A

SNV
Germline

Chr22:36766137

Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1159774355

3 SubmittersRCV000722443 RCV004794446

NM_001377.3(DYNC2H1):c.367-2A>G

SNV
Germline

Chr11:103114101

Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1291197898

2 SubmittersRCV000722555 RCV001206692

NM_001377.3(DYNC2H1):c.1857+8A>G

SNV
Germline

Chr11:103125303

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_751414927

2 SubmittersRCV000728918 RCV003768184

NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)

SNV
Germline

Chr11:103245356

Pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_751891969

2 SubmittersRCV000731079 RCV003768203

NM_014053.4(FLVCR1):c.87G>C (p.Ala29=)

SNV
Germline

Chr1:212858539

Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

rs_1558104145

1 SubmittersRCV000755162

NM_024755.4(SLTM):c.2600C>A (p.Pro867His)

SNV
Germline

Chr15:58887316

Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

rs_1401798992

1 SubmittersRCV000755166

NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)

SNV
Germline

Chr11:103234098

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200170585

4 SubmittersRCV000756062 RCV001089328 RCV002222621 RCV002536558

NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter)

SNV
Germline

Chr11:103116687

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_561778796

3 SubmittersRCV000760757 RCV003748274 RCV004742629

NM_001377.3(DYNC2H1):c.2343C>G (p.Tyr781Ter)

SNV
Germline

Chr11:103135632

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

rs_1266078341

2 SubmittersRCV003748280 RCV004549848

NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter)

SNV
Germline

Chr11:103280381

Conflicting classifications of pathogenicity

DYNC2H1-related disorder
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_373536938

2 SubmittersRCV004549853 RCV003586218

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
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

rs_141240501

5 SubmittersRCV000804050 RCV001135928 RCV001135929 RCV002487713 RCV003128708 RCV004735811

NM_024753.5(TTC21B):c.3263+1G>A

SNV
Germline

Chr2:165890478

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_1574070787

1 SubmittersRCV000795171

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_020800.3(IFT80):c.912G>A (p.Glu304=)

SNV
Germline

Chr3:160319805

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 2

Criteria Provided
Conflicting Classifications

rs_199575501

2 SubmittersRCV000864045 RCV001145555

NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)

SNV
Germline

Chr11:103135856

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

rs_200961157

3 SubmittersRCV000861292 RCV001002248 RCV003975372

NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=)

SNV
Germline

Chr11:103173255

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_201305322

2 SubmittersRCV001107080 RCV002062254

NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys)

SNV
Germline

Chr11:103253290

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149452352

4 SubmittersRCV001804002 RCV002064430 RCV003955567 RCV004726707

NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)

SNV
Germline

Chr2:165901910

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Nephrotic syndrome

Criteria Provided
Conflicting Classifications

rs_190101048

3 SubmittersRCV000865774 RCV001134206 RCV001134205 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
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

rs_149842503

3 SubmittersRCV001135807 RCV001135806 RCV002064595 RCV004735842

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_020800.3(IFT80):c.2156G>A (p.Arg719His)

SNV
Germline

Chr3:160268480

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 2
Condition: not provided
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_551983792

7 SubmittersRCV000871035 RCV001147394 RCV001573957 RCV002279583 RCV002539958

NM_020800.3(IFT80):c.879C>T (p.Val293=)

SNV
Germline

Chr3:160319838

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 2
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_143660757

3 SubmittersRCV000868340 RCV001145671 RCV002279580

NM_020800.3(IFT80):c.546G>A (p.Leu182=)

SNV
Germline

Chr3:160366046

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_543233802

2 SubmittersRCV000865032 RCV002279570

NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=)

SNV
Germline

Chr11:103188565

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

rs_371948128

2 SubmittersRCV000866049 RCV001107820

NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)

SNV
Germline

Chr11:103215857

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified
Condition: not provided
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

rs_201252553

4 SubmittersRCV001407252 RCV003317393 RCV003480883 RCV003965700

NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His)

SNV
Germline

Chr11:103257696

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188113889

4 SubmittersRCV000867025 RCV001102777 RCV003319428

NM_001377.3(DYNC2H1):c.6894-5C>T

SNV
Germline

Chr11:103187335

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_552793888

2 SubmittersRCV003145215 RCV002536769

NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)

SNV
Germline

Chr2:165880782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767037992

3 SubmittersRCV000874145 RCV001134076 RCV001134077 RCV004721666

NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu)

SNV
Germline

Chr11:103184976

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199675558

3 SubmittersRCV001803201 RCV002068763 RCV003160159

NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys)

SNV
Germline

Chr11:103358271

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_771264933

3 SubmittersRCV001002227 RCV002068788

NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)

SNV
Germline

Chr2:165949421

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752147287

3 SubmittersRCV001048635 RCV002481944 RCV003243430

NM_020800.3(IFT80):c.332C>T (p.Ala111Val)

SNV
Germline

Chr3:160377468

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_557375681

2 SubmittersRCV001070968 RCV003389332

NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu)

SNV
Germline

Chr11:103156437

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200635842

2 SubmittersRCV001041030 RCV004031235

NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=)

SNV
Germline

Chr11:103121026

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_190106816

2 SubmittersRCV001105760 RCV002069741

NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=)

SNV
Germline

Chr11:103135813

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_143172984

2 SubmittersRCV001107548 RCV003748307

NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)

SNV
Germline

Chr11:103148606

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772439717

5 SubmittersRCV001103934 RCV001401390 RCV003928704 RCV004032100

NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=)

SNV
Germline

Chr11:103168915

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_376188702

2 SubmittersRCV001104321 RCV001444315

NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=)

SNV
Germline

Chr11:103181781

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_1386325793

2 SubmittersRCV001104105 RCV003748304

NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)

SNV
Germline

Chr11:103186377

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199897162

4 SubmittersRCV001104416 RCV001358422 RCV001248024 RCV002558043

NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=)

SNV
Germline

Chr11:103220667

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

rs_765905797

3 SubmittersRCV001107912 RCV003748308 RCV003906203

NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=)

SNV
Germline

Chr11:103231290

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_930832327

2 SubmittersRCV001102680 RCV003586263

NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=)

SNV
Germline

Chr11:103303136

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_778092263

2 SubmittersRCV001105850 RCV003748305

NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser)

SNV
Germline

Chr11:103303182

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Inborn genetic diseases
Jeune thoracic dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_199766341

6 SubmittersRCV001105851 RCV003243479 RCV002558060 RCV004768861 RCV004813768

NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=)

SNV
Germline

Chr11:103303250

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_760751244

2 SubmittersRCV001105852 RCV002069744

NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=)

SNV
Germline

Chr11:103321045

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_769560873

2 SubmittersRCV001102878 RCV003748303

NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=)

SNV
Germline

Chr11:103323921

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

rs_370818346

3 SubmittersRCV001102879 RCV001472292 RCV003898092

NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=)

SNV
Germline

Chr11:103468633

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_371640317

2 SubmittersRCV001108175 RCV002069767

NM_001377.3(DYNC2H1):c.2345+9T>C

SNV
Germline

Chr11:103135643

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_772122634

2 SubmittersRCV001107547 RCV003586265

NM_001377.3(DYNC2H1):c.2574+9C>T

SNV
Germline

Chr11:103135957

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_777840832

2 SubmittersRCV001103931 RCV003586264

NM_001377.3(DYNC2H1):c.5335-11T>G

SNV
Germline

Chr11:103173071

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_181963253

3 SubmittersRCV001107078 RCV002067789

NM_001377.3(DYNC2H1):c.7140+8A>G

SNV
Germline

Chr11:103187594

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_768364364

2 SubmittersRCV001107159 RCV003748306

NM_001377.3(DYNC2H1):c.9568-13C>G

SNV
Germline

Chr11:103235659

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_189730787

3 SubmittersRCV001104602 RCV002555026 RCV004693617

NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)

SNV
Germline

Chr2:165890936

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Nephronophthisis
Jeune thoracic dystrophy
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

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

Criteria Provided
Conflicting Classifications

rs_140323384

3 SubmittersRCV001128820 RCV001128821 RCV001873517 RCV004734023

NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=)

SNV
Germline

Chr2:165919375

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis
Jeune thoracic dystrophy

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
Nephronophthisis
Jeune thoracic dystrophy
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
Nephronophthisis
Jeune thoracic dystrophy
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
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_773555238

3 SubmittersRCV001136014 RCV001136015 RCV001856736

NM_024753.5(TTC21B):c.3805+13A>G

SNV
Germline

Chr2:165880666

Conflicting classifications of pathogenicity

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_529123534

2 SubmittersRCV001130404 RCV001130405 RCV002070522

NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)

SNV
Germline

Chr3:160282495

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_554335278

4 SubmittersRCV001149881 RCV001512546 RCV002276642 RCV002557223

NM_020800.3(IFT80):c.1104A>T (p.Ile368=)

SNV
Germline

Chr3:160303962

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_369114064

2 SubmittersRCV001145553 RCV002070757

NM_020800.3(IFT80):c.804C>T (p.Asn268=)

SNV
Germline

Chr3:160319913

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_375407595

2 SubmittersRCV001145673 RCV001456752

NM_020800.3(IFT80):c.468C>T (p.Gly156=)

SNV
Germline

Chr3:160366124

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_145679417

2 SubmittersRCV001148435 RCV001414310

NM_020800.3(IFT80):c.2224-9C>T

SNV
Germline

Chr3:160258644

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_752574778

2 SubmittersRCV001147393 RCV002070789

NM_020800.3(IFT80):c.639+5A>G

SNV
Germline

Chr3:160357484

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
Asphyxiating thoracic dystrophy 2
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_527856744

5 SubmittersRCV001401851 RCV001796374 RCV001148432 RCV002276641

NM_024753.5(TTC21B):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:165953705

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_1435376086

2 SubmittersRCV001217260 RCV004577542

NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)

SNV
Germline

Chr2:165930346

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_140899101

4 SubmittersRCV001212557 RCV004538457 RCV002497725 RCV004033859

NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu)

SNV
Germline

Chr11:103125117

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_561232842

2 SubmittersRCV001206202 RCV004619549

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_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)

SNV
Germline

Chr11:103156663

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_191869845

2 SubmittersRCV001246533 RCV003166547

NM_020800.3(IFT80):c.958-1G>T

SNV
Germline

Chr3:160307782

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_202051267

2 SubmittersRCV001229437 RCV001780160

NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg)

SNV
Germline

Chr11:103468635

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1945272232

2 SubmittersRCV001256166 RCV003586291

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_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)

SNV
Germline

Chr11:103113658

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200485999

4 SubmittersRCV001281676 RCV001586106 RCV002069500 RCV002537923

NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His)

SNV
Germline

Chr11:103115228

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199960819

4 SubmittersRCV001281675 RCV001571880 RCV002069499 RCV002537922

NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser)

SNV
Germline

Chr11:103114212

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_201510850

2 SubmittersRCV001286217 RCV002542977

NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His)

SNV
Germline

Chr11:103121480

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
not specified
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_201484896

3 SubmittersRCV001285028 RCV001819977 RCV002541768

NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His)

SNV
Germline

Chr11:103220687

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_755871858

5 SubmittersRCV001285977 RCV002462900 RCV002537942 RCV003246832 RCV004699269

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_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)

SNV
Germline

Chr2:165911410

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_763158250

3 SubmittersRCV001308837 RCV001760370 RCV002486207

NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)

SNV
Germline

Chr11:103170910

Pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_772321133

3 SubmittersRCV001332761 RCV003748338 RCV003322881

NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter)

SNV
Germline

Chr11:103189759

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_921573478

1 SubmittersRCV001924390

NM_024753.5(TTC21B):c.2550G>A (p.Ala850=)

SNV
Germline

Chr2:165907696

Conflicting classifications of pathogenicity

Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Conflicting Classifications

rs_144151561

2 SubmittersRCV001336666 RCV002070211

NM_001377.3(DYNC2H1):c.11667T>G (p.Tyr3889Ter)

SNV
Germline

Chr11:103316562

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1937856263

1 SubmittersRCV003748701

NM_001377.3(DYNC2H1):c.12456+2T>C

SNV
Germline

Chr11:103436034

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_778359687

1 SubmittersRCV003749614

NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)

SNV
Germline

Chr2:165917273

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_139653847

3 SubmittersRCV001372815 RCV002488179 RCV002548665

NM_020800.3(IFT80):c.1152-1G>C

SNV
Germline

Chr3:160301047

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_777519235

1 SubmittersRCV001378040

NM_020800.3(IFT80):c.440-2A>G

SNV
Germline

Chr3:160366154

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1721846338

1 SubmittersRCV001378148

NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr2:165919404

Pathogenic/Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_779134983

2 SubmittersRCV001382361 RCV002493924

NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter)

SNV
Germline

Chr3:160277625

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_781436346

1 SubmittersRCV001384026

NM_001177701.3(IFT27):c.404C>G (p.Ser135Ter)

SNV
Germline

Chr22:36762962

Pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_145338298

2 SubmittersRCV001381750 RCV004794537

NM_001377.3(DYNC2H1):c.2210T>A (p.Phe737Tyr)

SNV
Germline

Chr11:103135499

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200599406

2 SubmittersRCV001419216 RCV002554077

NM_001377.3(DYNC2H1):c.1184C>T (p.Ala395Val)

SNV
Germline

Chr11:103120738

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200822573

2 SubmittersRCV001461600 RCV003160871

NM_001377.3(DYNC2H1):c.4576C>A (p.Gln1526Lys)

SNV
Germline

Chr11:103163112

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_201162989

3 SubmittersRCV002562708 RCV004719162 RCV001486570

NM_001377.3(DYNC2H1):c.7222G>A (p.Ala2408Thr)

SNV
Germline

Chr11:103188578

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201875907

2 SubmittersRCV001489983 RCV004037302

NM_001377.3(DYNC2H1):c.12833A>T (p.Asp4278Val)

SNV
Germline

Chr11:103479162

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200268681

3 SubmittersRCV001501684 RCV001575394 RCV002564162

NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)

SNV
Germline

Chr3:160384588

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_184680258

2 SubmittersRCV001512673 RCV002276752

NM_024753.5(TTC21B):c.3102-2A>G

SNV
Germline

Chr2:165890642

Likely pathogenic

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

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

Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

rs_764514397

2 SubmittersRCV001535953 RCV002568923

NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)

SNV
Unknown

Chr11:67279866

Pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

rs_2136500272

1 SubmittersRCV001543384

NM_001619.5(GRK2):c.555+1G>A

SNV
Germline

Chr11:67280784

Likely pathogenic

Jeune thoracic dystrophy

No Assertion Criteria Provided

rs_2136501226

1 SubmittersRCV001543386

NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter)

SNV
Germline

Chr11:103189814

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_200989423

2 SubmittersRCV001596853 RCV003748351

NM_001377.3(DYNC2H1):c.6779T>G (p.Leu2260Arg)

SNV
Germline

Chr11:103186387

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_761222472

2 SubmittersRCV001596913 RCV002072364

NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)

SNV
Germline

Chr2:165890967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_141708554

3 SubmittersRCV001597548 RCV002488438 RCV002592516

NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)

SNV
Germline

Chr2:165949483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_376163622

3 SubmittersRCV001665442 RCV001882754 RCV002506712

NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=)

SNV
Germline

Chr2:165890598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762837601

3 SubmittersRCV001760605 RCV001882878 RCV004734258

NM_001377.3(DYNC2H1):c.8536T>C (p.Ser2846Pro)

SNV
Germline

Chr11:103209957

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767717747

3 SubmittersRCV001768351 RCV002077204 RCV002540689

NM_001377.3(DYNC2H1):c.1157C>T (p.Ser386Phe)

SNV
Germline

Chr11:103120711

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_541038013

3 SubmittersRCV001755647 RCV002074040 RCV004040740

NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile)

SNV
Germline

Chr11:103134408

Conflicting classifications of pathogenicity

Condition: not provided
Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370906388

3 SubmittersRCV001768267 RCV003586311 RCV004040735

NM_001377.3(DYNC2H1):c.6477+1G>A

SNV
Germline

Chr11:103181887

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_756313208

1 SubmittersRCV003870211

NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter)

SNV
Germline

Chr11:103114235

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_755464335

2 SubmittersRCV001808203 RCV001869583

NM_001377.3(DYNC2H1):c.2702+9G>C

SNV
Germline

Chr11:103143404

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

rs_373942624

2 SubmittersRCV001820569 RCV002542635

NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)

SNV
Germline

Chr2:165919375

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_199559023

1 SubmittersRCV001931706

NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)

SNV
Germline

Chr2:165949625

Conflicting classifications of pathogenicity

Nephronophthisis
Jeune thoracic dystrophy
Inborn genetic diseases
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_776138424

3 SubmittersRCV001878223 RCV004039609 RCV002482480

NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)

SNV
Germline

Chr2:165929249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_533077805

3 SubmittersRCV001902665 RCV002490121 RCV004734317

NM_001377.3(DYNC2H1):c.5960C>T (p.Thr1987Met)

SNV
Germline

Chr11:103177641

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_769618486

4 SubmittersRCV001950256 RCV002562201 RCV003154224 RCV004699573

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_001377.3(DYNC2H1):c.9918+1G>T

SNV
Germline

Chr11:103243792

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_772732648

1 SubmittersRCV001990327

NM_001377.3(DYNC2H1):c.1248+1G>A

SNV
Germline

Chr11:103120803

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1389651809

1 SubmittersRCV001991124

NM_001377.3(DYNC2H1):c.2818+1G>C

SNV
Germline

Chr11:103147888

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1591316134

1 SubmittersRCV001929460

NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)

SNV
Germline

Chr2:165890630

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

rs_2105291727

1 SubmittersRCV001951824

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
Inborn genetic diseases
Condition: not provided
TTC21B-related disorder

Criteria Provided
Conflicting Classifications

rs_140908725

6 SubmittersRCV001936014 RCV002484516 RCV004043555 RCV003151870 RCV004734339

NM_001377.3(DYNC2H1):c.12763C>T (p.Gln4255Ter)

SNV
Germline

Chr11:103468703

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_2135849050

1 SubmittersRCV001992121

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_001377.3(DYNC2H1):c.8346G>A (p.Met2782Ile)

SNV
Germline

Chr11:103204856

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774895745

2 SubmittersRCV001982677 RCV004043707

NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)

SNV
Germline

Chr2:165929144

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis
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_024753.5(TTC21B):c.2300T>C (p.Ile767Thr)

SNV
Germline

Chr2:165912536

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140824612

3 SubmittersRCV001916806 RCV002246600 RCV004681325

NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)

SNV
Germline

Chr2:165929697

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_749794837

1 SubmittersRCV001896452

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_001377.3(DYNC2H1):c.2008G>T (p.Glu670Ter)

SNV
Germline

Chr11:103133609

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_750682546

1 SubmittersRCV001993258

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_020800.3(IFT80):c.551G>A (p.Trp184Ter)

SNV
Germline

Chr3:160357577

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1182330004

1 SubmittersRCV002000201

NM_024753.5(TTC21B):c.711-2A>C

SNV
Germline

Chr2:165933059

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

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

Nephronophthisis
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12

Criteria Provided
Conflicting Classifications

rs_202087501

2 SubmittersRCV001866492 RCV002482458

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_001377.3(DYNC2H1):c.8694+1G>T

SNV
Germline

Chr11:103211944

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1455606327

1 SubmittersRCV002038297

NM_001377.3(DYNC2H1):c.9823C>T (p.Arg3275Ter)

SNV
Germline

Chr11:103243696

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_2135225617

1 SubmittersRCV002037940

NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter)

SNV
Germline

Chr11:103134354

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_2134773913

1 SubmittersRCV001900267

NM_001377.3(DYNC2H1):c.3076C>T (p.Gln1026Ter)

SNV
Germline

Chr11:103152265

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_765224364

1 SubmittersRCV001967186

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_024753.5(TTC21B):c.895-1G>A

SNV
Germline

Chr2:165930365

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_773008707

1 SubmittersRCV002001160

NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)

SNV
Germline

Chr11:103203775

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1437320571

3 SubmittersRCV001982981 RCV002307817

NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)

SNV
Germline

Chr2:165883847

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
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_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_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_001377.3(DYNC2H1):c.12649-1G>A

SNV
Germline

Chr11:103468588

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

rs_1333438254

1 SubmittersRCV002007651

NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)

SNV
Germline

Chr2:165930289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762885961

6 SubmittersRCV001955148 RCV002243486 RCV002479500 RCV004734357 RCV002561508

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_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His)

SNV
Germline

Chr11:103456286

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_201699865

4 SubmittersRCV002101743 RCV003348806 RCV003883782 RCV004816964

NM_001377.3(DYNC2H1):c.12916A>G (p.Asn4306Asp)

SNV
Germline

Chr11:103479245

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200264343

2 SubmittersRCV002106159 RCV004617003

NM_001377.3(DYNC2H1):c.9007A>G (p.Ile3003Val)

SNV
Germline

Chr11:103220683

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_367832579

2 SubmittersRCV002175594 RCV002553705

NM_020800.3(IFT80):c.550-4A>T

SNV
Germline

Chr3:160357582

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_769891425

2 SubmittersRCV002186604 RCV002277041

NM_001377.3(DYNC2H1):c.11176A>G (p.Ile3726Val)

SNV
Germline

Chr11:103303173

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370622418

3 SubmittersRCV002103587 RCV003015296 RCV003015295

NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His)

SNV
Germline

Chr2:165876188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139537546

4 SubmittersRCV002205801 RCV002265061 RCV004734429

NM_001377.3(DYNC2H1):c.4477T>A (p.Ser1493Thr)

SNV
Germline

Chr11:103161030

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748170980

3 SubmittersRCV002159532 RCV004784038 RCV004976211

NM_001377.3(DYNC2H1):c.10252C>G (p.Gln3418Glu)

SNV
Germline

Chr11:103255460

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_543525711

2 SubmittersRCV002175408 RCV004045069

NM_001377.3(DYNC2H1):c.12457-1G>C

SNV
Germline

Chr11:103455185

Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135805319

2 SubmittersRCV002249036 RCV003774707

NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)

SNV
Germline

Chr11:103199246

Pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306097 RCV003775008

NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)

SNV
Germline

Chr11:103455191

Pathogenic

Condition: not provided
Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002467157 RCV003485786 RCV003775495

NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)

SNV
Germline

Chr2:165890896

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062713 RCV004798021

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_020800.3(IFT80):c.957+1G>A

SNV
Germline

Chr3:160319759

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003085069

NM_020800.3(IFT80):c.1076+1G>A

SNV
Germline

Chr3:160307662

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002582465

NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His)

SNV
Germline

Chr11:103117853

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002596268

NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu)

SNV
Germline

Chr11:103117853

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002588536

NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)

SNV
Germline

Chr3:160282511

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002606023

NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)

SNV
Germline

Chr3:160268512

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002638590

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_020800.3(IFT80):c.464G>A (p.Trp155Ter)

SNV
Germline

Chr3:160366128

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002572488

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_020800.3(IFT80):c.28G>T (p.Glu10Ter)

SNV
Germline

Chr3:160384573

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002720456

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_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)

SNV
Germline

Chr2:165911333

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002740663

NM_001377.3(DYNC2H1):c.1459G>A (p.Val487Ile)

SNV
Germline

Chr11:103121470

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002781467 RCV004973636

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_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)

SNV
Germline

Chr2:165930172

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002819660

NM_001377.3(DYNC2H1):c.6894-1G>A

SNV
Germline

Chr11:103187339

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002856960

NM_020800.3(IFT80):c.1664+1G>A

SNV
Germline

Chr3:160280666

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002828837

NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr2:165929673

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002861734

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_024753.5(TTC21B):c.2138+1G>T

SNV
Germline

Chr2:165915200

Likely pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV002899558

NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter)

SNV
Germline

Chr11:103191606

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002923502

NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)

SNV
Germline

Chr3:160381642

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002963402

NM_024753.5(TTC21B):c.205G>T (p.Val69Leu)

SNV
Germline

Chr2:165949451

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002982291 RCV004963316

NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)

SNV
Germline

Chr3:160268517

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003031131

NM_001377.3(DYNC2H1):c.1649G>C (p.Arg550Thr)

SNV
Germline

Chr11:103122988

Conflicting classifications of pathogenicity

Inborn genetic diseases
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002772169 RCV003586381

NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu)

SNV
Germline

Chr11:103435986

Conflicting classifications of pathogenicity

Inborn genetic diseases
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002980971 RCV003748457

NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr)

SNV
Germline

Chr11:103168901

Pathogenic/Likely pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003123200 RCV003748458

NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)

SNV
Germline

Chr11:103135923

Pathogenic

Condition: not provided
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003123201 RCV003778667

NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)

SNV
Germline

Chr11:103143385

Pathogenic/Likely pathogenic

DYNC2H1-related disorder
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003420563 RCV003778692

NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)

SNV
Germline

Chr11:103158768

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003144847 RCV003778834

NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)

SNV
Germline

Chr11:103116695

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 3
Jeune thoracic dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003146902 RCV003586385

NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)

SNV
Germline

Chr17:28715860

Likely pathogenic

Jeune thoracic dystrophy
Orofaciodigital syndrome 20

Criteria Provided
Single Submitter

2 SubmittersRCV003237334 RCV003761642

NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)

SNV
Germline

Chr17:28714814

Likely pathogenic

Jeune thoracic dystrophy
Orofaciodigital syndrome 20

Criteria Provided
Single Submitter

2 SubmittersRCV003237335 RCV003761643

NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)

SNV
Germline

Chr11:103158917

Conflicting classifications of pathogenicity

not specified
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003317788 RCV003586408 RCV004796799

NM_001377.3(DYNC2H1):c.6139+2T>C

SNV
Germline

Chr11:103177822

Likely pathogenic

DYNC2H1-related disorder
Jeune thoracic dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003394350 RCV003586418

NM_001377.3(DYNC2H1):c.11934+1G>A

SNV
Germline

Chr11:103321238

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586452

NM_001377.3(DYNC2H1):c.2736C>A (p.Cys912Ter)

SNV
Germline

Chr11:103147805

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586604

NM_001377.3(DYNC2H1):c.11606G>A (p.Trp3869Ter)

SNV
Germline

Chr11:103311990

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586605

NM_001377.3(DYNC2H1):c.6790C>T (p.Gln2264Ter)

SNV
Germline

Chr11:103186398

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586532

NM_001377.3(DYNC2H1):c.3498G>A (p.Trp1166Ter)

SNV
Germline

Chr11:103154734

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586547

NM_001377.3(DYNC2H1):c.6645G>A (p.Trp2215Ter)

SNV
Germline

Chr11:103186253

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586667

NM_001377.3(DYNC2H1):c.3458+1G>A

SNV
Germline

Chr11:103154607

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586623

NM_001377.3(DYNC2H1):c.11494-1G>C

SNV
Germline

Chr11:103311877

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586652

NM_020800.3(IFT80):c.1516+2T>C

SNV
Germline

Chr3:160282476

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586694

NM_001377.3(DYNC2H1):c.11726-2A>G

SNV
Germline

Chr11:103321027

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586700

NM_001377.3(DYNC2H1):c.12367-1G>A

SNV
Germline

Chr11:103435942

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586776

NM_001377.3(DYNC2H1):c.4009G>T (p.Glu1337Ter)

SNV
Germline

Chr11:103156652

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586893

NM_001377.3(DYNC2H1):c.11364G>A (p.Trp3788Ter)

SNV
Germline

Chr11:103304702

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586737

NM_001377.3(DYNC2H1):c.11230G>T (p.Glu3744Ter)

SNV
Germline

Chr11:103303227

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586920

NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)

SNV
Germline

Chr3:160319870

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586957

NM_001377.3(DYNC2H1):c.4325G>A (p.Gly1442Asp)

SNV
Germline

Chr11:103158974

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586735

NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter)

SNV
Germline

Chr11:103283017

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586758

NM_001377.3(DYNC2H1):c.9167C>G (p.Ser3056Ter)

SNV
Germline

Chr11:103222089

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586802

NM_001377.3(DYNC2H1):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr11:103170264

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586723

NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter)

SNV
Germline

Chr11:103199282

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586728

NM_001377.3(DYNC2H1):c.3984G>A (p.Trp1328Ter)

SNV
Germline

Chr11:103156627

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586786

NM_001377.3(DYNC2H1):c.5527A>T (p.Arg1843Ter)

SNV
Germline

Chr11:103173274

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586789

NM_001377.3(DYNC2H1):c.12409C>T (p.Pro4137Ser)

SNV
Germline

Chr11:103435985

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003587031 RCV004701720

NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter)

SNV
Germline

Chr11:103243766

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587205

NM_001377.3(DYNC2H1):c.1760G>A (p.Arg587His)

SNV
Germline

Chr11:103125198

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587068

NM_001377.3(DYNC2H1):c.12156+1G>T

SNV
Germline

Chr11:103358360

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587155

NM_001377.3(DYNC2H1):c.6633+1G>A

SNV
Germline

Chr11:103185052

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587202

NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter)

SNV
Germline

Chr11:103152181

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587096

NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter)

SNV
Germline

Chr11:103199291

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587168

NM_001377.3(DYNC2H1):c.4492-1G>A

SNV
Germline

Chr11:103163027

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587347

NM_001377.3(DYNC2H1):c.2612T>C (p.Leu871Pro)

SNV
Germline

Chr11:103143305

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587412

NM_001377.3(DYNC2H1):c.6043C>T (p.Arg2015Ter)

SNV
Germline

Chr11:103177724

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587413

NM_001377.3(DYNC2H1):c.1662-2A>G

SNV
Germline

Chr11:103125098

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587596

NM_001377.3(DYNC2H1):c.10099C>A (p.Arg3367Ser)

SNV
Germline

Chr11:103253341

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587678

NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)

SNV
Germline

Chr3:160381634

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587710

NM_001377.3(DYNC2H1):c.2770C>T (p.Gln924Ter)

SNV
Germline

Chr11:103147839

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587766

NM_001377.3(DYNC2H1):c.10196T>A (p.Leu3399Ter)

SNV
Germline

Chr11:103253438

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587900

NM_001377.3(DYNC2H1):c.12649-1G>T

SNV
Germline

Chr11:103468588

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587758

NM_001377.3(DYNC2H1):c.8669T>A (p.Leu2890Ter)

SNV
Germline

Chr11:103211918

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587759

NM_001377.3(DYNC2H1):c.999+1G>A

SNV
Germline

Chr11:103117864

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587693

NM_001377.3(DYNC2H1):c.5335-1G>A

SNV
Germline

Chr11:103173081

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587886

NM_001377.3(DYNC2H1):c.11293C>T (p.Gln3765Ter)

SNV
Germline

Chr11:103304631

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587654

NM_001377.3(DYNC2H1):c.3302+1G>T

SNV
Germline

Chr11:103153509

Likely pathogenic

Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003587687 RCV005001400

NM_001377.3(DYNC2H1):c.7786G>T (p.Gly2596Ter)

SNV
Germline

Chr11:103198010

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587770

NM_001377.3(DYNC2H1):c.4491+2T>C

SNV
Germline

Chr11:103161046

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587870

NM_001377.3(DYNC2H1):c.10294C>T (p.Gln3432Ter)

SNV
Germline

Chr11:103255502

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587875

NM_001377.3(DYNC2H1):c.3745-1G>A

SNV
Germline

Chr11:103156387

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587879

NM_001377.3(DYNC2H1):c.6893+1G>A

SNV
Germline

Chr11:103186502

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587998

NM_001377.3(DYNC2H1):c.12415C>T (p.Gln4139Ter)

SNV
Germline

Chr11:103435991

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003588016

NM_001377.3(DYNC2H1):c.7156G>T (p.Gly2386Ter)

SNV
Germline

Chr11:103188512

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003587970

NM_001377.3(DYNC2H1):c.3574-2A>G

SNV
Germline

Chr11:103155329

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003588029

NM_001377.3(DYNC2H1):c.12393G>A (p.Trp4131Ter)

SNV
Germline

Chr11:103435969

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003588056

NM_001377.3(DYNC2H1):c.8947-2A>G

SNV
Germline

Chr11:103220621

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586586

NM_001377.3(DYNC2H1):c.8227G>T (p.Glu2743Ter)

SNV
Germline

Chr11:103203692

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586588

NM_001377.3(DYNC2H1):c.4241C>G (p.Ser1414Ter)

SNV
Germline

Chr11:103158790

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003586589

NM_001377.3(DYNC2H1):c.4969-2A>G

SNV
Germline

Chr11:103170106

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748636

NM_001377.3(DYNC2H1):c.10761+1G>A

SNV
Germline

Chr11:103280414

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748629

NM_001377.3(DYNC2H1):c.9845A>C (p.Asp3282Ala)

SNV
Germline

Chr11:103243718

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748548

NM_001377.3(DYNC2H1):c.10837C>T (p.Gln3613Ter)

SNV
Germline

Chr11:103283032

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748522

NM_001377.3(DYNC2H1):c.1661+1G>C

SNV
Germline

Chr11:103123001

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748653

NM_001377.3(DYNC2H1):c.3744+1G>A

SNV
Germline

Chr11:103155502

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749173

NM_001377.3(DYNC2H1):c.6709C>T (p.Arg2237Ter)

SNV
Germline

Chr11:103186317

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749169

NM_001377.3(DYNC2H1):c.7541-2A>G

SNV
Germline

Chr11:103192095

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749193

NM_001377.3(DYNC2H1):c.10270C>T (p.Gln3424Ter)

SNV
Germline

Chr11:103255478

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749296

NM_001377.3(DYNC2H1):c.9310G>T (p.Glu3104Ter)

SNV
Germline

Chr11:103223043

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749301

NM_001377.3(DYNC2H1):c.195+1G>A

SNV
Germline

Chr11:103109770

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749288

NM_001377.3(DYNC2H1):c.773C>A (p.Ser258Ter)

SNV
Germline

Chr11:103117637

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749336

NM_001377.3(DYNC2H1):c.6140-5A>G

SNV
Germline

Chr11:103179021

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749422

NM_001377.3(DYNC2H1):c.10864C>T (p.Arg3622Ter)

SNV
Germline

Chr11:103283059

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749365

NM_001377.3(DYNC2H1):c.3509T>G (p.Leu1170Ter)

SNV
Germline

Chr11:103154745

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749367

NM_001377.3(DYNC2H1):c.2946+1G>C

SNV
Germline

Chr11:103148618

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749510

NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)

SNV
Germline

Chr3:160277311

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749483

NM_001377.3(DYNC2H1):c.9919-2A>C

SNV
Germline

Chr11:103245249

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749407

NM_001377.3(DYNC2H1):c.12157-2A>G

SNV
Germline

Chr11:103399661

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749430

NM_001377.3(DYNC2H1):c.11762T>A (p.Leu3921Ter)

SNV
Germline

Chr11:103321065

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749900

NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)

SNV
Germline

Chr11:103179106

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749585

NM_001377.3(DYNC2H1):c.8557A>T (p.Lys2853Ter)

SNV
Germline

Chr11:103211806

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749821

NM_001377.3(DYNC2H1):c.6149C>G (p.Ser2050Ter)

SNV
Germline

Chr11:103179035

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749888

NM_001377.3(DYNC2H1):c.4496G>A (p.Trp1499Ter)

SNV
Germline

Chr11:103163032

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749810

NM_001377.3(DYNC2H1):c.4491+1G>A

SNV
Germline

Chr11:103161045

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749958

NM_001377.3(DYNC2H1):c.1360+2T>G

SNV
Germline

Chr11:103121038

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750072

NM_001377.3(DYNC2H1):c.9919-2A>T

SNV
Germline

Chr11:103245249

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750139

NM_001377.3(DYNC2H1):c.8611C>T (p.Arg2871Ter)

SNV
Germline

Chr11:103211860

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749987

NM_001377.3(DYNC2H1):c.1614G>A (p.Trp538Ter)

SNV
Germline

Chr11:103122953

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750011

NM_001377.3(DYNC2H1):c.2247G>A (p.Trp749Ter)

SNV
Germline

Chr11:103135536

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750063

NM_001377.3(DYNC2H1):c.5875-2A>T

SNV
Germline

Chr11:103177554

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749972

NM_001377.3(DYNC2H1):c.1966G>T (p.Gly656Ter)

SNV
Germline

Chr11:103133567

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750051

NM_001377.3(DYNC2H1):c.4018C>T (p.Gln1340Ter)

SNV
Germline

Chr11:103156661

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750271

NM_001377.3(DYNC2H1):c.9292C>T (p.Gln3098Ter)

SNV
Germline

Chr11:103223025

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747705

NM_001377.3(DYNC2H1):c.12440G>A (p.Arg4147His)

SNV
Germline

Chr11:103436016

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003747776 RCV004701788

NM_001377.3(DYNC2H1):c.11726-1G>A

SNV
Germline

Chr11:103321028

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003750279

NM_001377.3(DYNC2H1):c.5558+1G>A

SNV
Germline

Chr11:103173306

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747763

NM_001377.3(DYNC2H1):c.10207-1G>C

SNV
Germline

Chr11:103255414

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747785

NM_001377.3(DYNC2H1):c.12566+2T>C

SNV
Germline

Chr11:103455297

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747803

NM_001377.3(DYNC2H1):c.2077A>T (p.Arg693Ter)

SNV
Germline

Chr11:103133678

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747968

NM_001377.3(DYNC2H1):c.2703-2A>G

SNV
Germline

Chr11:103147770

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747848

NM_001377.3(DYNC2H1):c.10042+1G>A

SNV
Germline

Chr11:103245375

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747869

NM_001377.3(DYNC2H1):c.12157-1G>T

SNV
Germline

Chr11:103399662

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747978

NM_001377.3(DYNC2H1):c.10429G>T (p.Glu3477Ter)

SNV
Germline

Chr11:103256208

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747840

NM_001377.3(DYNC2H1):c.4537C>T (p.Gln1513Ter)

SNV
Germline

Chr11:103163073

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003747893

NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)

SNV
Germline

Chr11:103109746

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003748665 RCV004373982

NM_001377.3(DYNC2H1):c.6973C>T (p.Arg2325Ter)

SNV
Germline

Chr11:103187419

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748725

NM_001377.3(DYNC2H1):c.10605+1G>T

SNV
Germline

Chr11:103257752

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748769

NM_001377.3(DYNC2H1):c.2346-1G>A

SNV
Germline

Chr11:103135719

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748676

NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter)

SNV
Germline

Chr11:103399705

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748815

NM_001377.3(DYNC2H1):c.1678C>T (p.Arg560Ter)

SNV
Germline

Chr11:103125116

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748834

NM_001377.3(DYNC2H1):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr11:103128955

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748858

NM_001377.3(DYNC2H1):c.10141C>T (p.Pro3381Ser)

SNV
Germline

Chr11:103253383

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748888

NM_001377.3(DYNC2H1):c.1366C>T (p.Arg456Ter)

SNV
Germline

Chr11:103121377

Pathogenic

Jeune thoracic dystrophy
DYNC2H1-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV003748996 RCV003929329

NM_001377.3(DYNC2H1):c.12512C>A (p.Ser4171Ter)

SNV
Germline

Chr11:103455241

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003748990

NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)

SNV
Germline

Chr3:160356089

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749077

NM_001377.3(DYNC2H1):c.7527T>G (p.Tyr2509Ter)

SNV
Germline

Chr11:103191606

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749674

NM_001377.3(DYNC2H1):c.3859C>T (p.Arg1287Ter)

SNV
Germline

Chr11:103156502

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003749677

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_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)

SNV
Germline

Chr2:165874814

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Nephronophthisis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003796419 RCV004790617

NM_024753.5(TTC21B):c.1088-1G>A

SNV
Germline

Chr2:165929748

Pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003798659

NM_024753.5(TTC21B):c.1900-1G>T

SNV
Germline

Chr2:165915440

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

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_024753.5(TTC21B):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:165953696

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003794756

NM_024753.5(TTC21B):c.1900-2A>G

SNV
Germline

Chr2:165915441

Likely pathogenic

Nephronophthisis
Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003800408

NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr2:165901865

Pathogenic

Jeune thoracic dystrophy
Nephronophthisis

Criteria Provided
Single Submitter

1 SubmittersRCV003807084

NM_001377.3(DYNC2H1):c.1243C>T (p.Gln415Ter)

SNV
Germline

Chr11:103120797

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003814453

NM_001377.3(DYNC2H1):c.10462-2A>G

SNV
Germline

Chr11:103257606

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003822917

NM_001377.3(DYNC2H1):c.5559-2A>G

SNV
Germline

Chr11:103174053

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003827993

NM_001377.3(DYNC2H1):c.7001C>T (p.Thr2334Ile)

SNV
Germline

Chr11:103187447

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003818868 RCV004621916

NM_001377.3(DYNC2H1):c.12567-1G>A

SNV
Germline

Chr11:103456274

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003828814

NM_001377.3(DYNC2H1):c.1231C>T (p.Gln411Ter)

SNV
Germline

Chr11:103120785

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003848025

NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter)

SNV
Germline

Chr11:103256121

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003846774

NM_001377.3(DYNC2H1):c.6634-1G>C

SNV
Germline

Chr11:103186241

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003847130

NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)

SNV
Germline

Chr11:103188640

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003866532

NM_001377.3(DYNC2H1):c.940T>C (p.Trp314Arg)

SNV
Germline

Chr11:103117804

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003865901

NM_001377.3(DYNC2H1):c.3145C>T (p.Gln1049Ter)

SNV
Germline

Chr11:103153351

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003878160

NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter)

SNV
Germline

Chr11:103243743

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003874534

NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr11:103114184

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003882076

NM_001377.3(DYNC2H1):c.9010C>T (p.Arg3004Cys)

SNV
Germline

Chr11:103220686

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003873604

NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter)

SNV
Germline

Chr11:103255460

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003871781

NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter)

SNV
Germline

Chr11:103186257

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003879985

NM_001377.3(DYNC2H1):c.11256+1G>T

SNV
Germline

Chr11:103303254

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003881607

NM_001377.3(DYNC2H1):c.10039C>T (p.Gln3347Ter)

SNV
Germline

Chr11:103245371

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003878070

NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter)

SNV
Germline

Chr11:103186416

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003874982

NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter)

SNV
Germline

Chr11:103134417

Pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003877232

NM_001377.3(DYNC2H1):c.3404A>T (p.Glu1135Val)

SNV
Germline

Chr11:103154552

Likely pathogenic

Jeune thoracic dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004594022