Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	SNV Germline	Chr4:5640789	Pathogenic	Ellis-van Creveld syndrome Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116164	rs_137852924	11 SubmittersRCV000003550 RCV000516144 RCV000578498 RCV000763528
NM_153717.3(EVC):c.1886+5G>T	SNV Germline	Chr4:5793722	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA212828	rs_794726665	7 SubmittersRCV000005666 RCV000438781 RCV000516013 RCV001851677
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	SNV Germline	Chr4:5748226	Pathogenic	Ellis-van Creveld syndrome Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA117416	rs_121908425	12 SubmittersRCV000005668 RCV000255270 RCV000516113 RCV000807465
NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter)	SNV Germline	Chr4:169590743	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder Condition: not provided	Criteria Provided Single Submitter	CA210565	rs_387906890	3 SubmittersRCV000023381 RCV004742231 RCV004760339
NM_001199397.3(NEK1):c.869-2A>G	SNV Germline	Chr4:169577081	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided	CA210567	rs_483352906	1 SubmittersRCV000023382
NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg)	SNV Germline	Chr4:169589478	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided	CA210582	rs_431905508	1 SubmittersRCV000033162
NM_001199397.3(NEK1):c.869-1G>T	SNV Germline	Chr4:169577080	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210628	rs_794727032	3 SubmittersRCV000174122 RCV000724706
NM_001199397.3(NEK1):c.117+1G>A	SNV Germline	Chr4:169602513	Pathogenic/Likely pathogenic	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Multiple Submitters No Conflicts	CA210629	rs_794727285	2 SubmittersRCV000175848 RCV001852159
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu)	SNV Germline	Chr4:169477307	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242459	rs_752582295	3 SubmittersRCV000176490 RCV002056950 RCV004639163
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)	SNV Germline	Chr4:169587571	Conflicting classifications of pathogenicity	not specified Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications	CA247697	rs_373252814	5 SubmittersRCV000180307 RCV000724657 RCV003635906 RCV004742319
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	SNV Germline	Chr4:169585374	Conflicting classifications of pathogenicity	not specified Motor neuron disease Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24 NEK1-related disorder	Criteria Provided Conflicting Classifications	CA203762	rs_200161705	9 SubmittersRCV000180637 RCV000492285 RCV000659006 RCV001086419 RCV002287889 RCV003917685
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	SNV Germline	Chr4:169424668	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Amyotrophic lateral sclerosis, susceptibility to, 24 Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210638	rs_199947197	12 SubmittersRCV000190609 RCV000519626 RCV000585742 RCV000763117 RCV003947589
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)	SNV Germline	Chr4:169424635	Conflicting classifications of pathogenicity	Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137229	rs_377607698	2 SubmittersRCV000492346 RCV002521864
NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)	SNV Germline	Chr4:169477166	Conflicting classifications of pathogenicity	Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA358732682	rs_1131690778	2 SubmittersRCV000492161 RCV001859501
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)	SNV Germline	Chr4:169477252	Conflicting classifications of pathogenicity	Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137445	rs_375173827	4 SubmittersRCV000492146 RCV001146042 RCV003967695
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)	SNV Germline	Chr4:169477323	Conflicting classifications of pathogenicity	not specified Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3137455	rs_34324114	8 SubmittersRCV000355743 RCV000492324 RCV001080200 RCV001683152
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)	SNV Germline	Chr4:169479405	Conflicting classifications of pathogenicity	not specified Motor neuron disease Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137507	rs_199827465	7 SubmittersRCV000334816 RCV000492577 RCV000756420 RCV001148831
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)	SNV Germline	Chr4:169508292	Conflicting classifications of pathogenicity	Motor neuron disease Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137633	rs_776098853	3 SubmittersRCV000492300 RCV000321359 RCV003635907
NM_001199397.3(NEK1):c.1750-5T>C	SNV Germline	Chr4:169508336	Conflicting classifications of pathogenicity	Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137635	rs_199522035	3 SubmittersRCV000492085 RCV000894811 RCV003939928
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)	SNV Germline	Chr4:169561835	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to, 24 Motor neuron disease Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137845	rs_372585344	7 SubmittersRCV000280217 RCV000492702 RCV000659005 RCV002518774 RCV003409388
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	SNV Germline	Chr4:169562196	Conflicting classifications of pathogenicity	not specified Motor neuron disease Condition: not provided Cor triatriatum dexter Cough Lymphopenia Immunodeficiency Short-rib thoracic dysplasia 6 with or without polydactyly Connective tissue disorder NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137876	rs_189186475	11 SubmittersRCV000347897 RCV000492472 RCV000725283 RCV000735386 RCV001088091 RCV002278253 RCV003939927
NM_001199397.3(NEK1):c.695G>A (p.Arg232His)	SNV Germline	Chr4:169585461	Conflicting classifications of pathogenicity	Motor neuron disease not specified Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137972	rs_772747361	3 SubmittersRCV000492453 RCV000503332 RCV001859500
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)	SNV Germline	Chr4:169588719	Pathogenic; other	Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3138011	rs_202115635	3 SubmittersRCV000492640 RCV002521865 RCV003947821
NM_001199397.3(NEK1):c.214+1G>A	SNV Germline	Chr4:169602007	Pathogenic; other	Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly Connective tissue disorder NEK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA109925864	rs_1049502301	6 SubmittersRCV000492619 RCV000515986 RCV002278254 RCV003955418
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)	SNV Germline	Chr4:169401824	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Connective tissue disorder NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137163	rs_56077602	10 SubmittersRCV000297324 RCV001084334 RCV002278276 RCV003930081
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg)	SNV Germline	Chr4:169424728	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3137249	rs_200619983	3 SubmittersRCV000403066 RCV001442121 RCV004955380
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)	SNV Germline	Chr2:19966735	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Connective tissue disorder WDR35-related disorder not specified	Criteria Provided Conflicting Classifications	CA1543330	rs_143343508	10 SubmittersRCV000395590 RCV000515966 RCV001086026 RCV001143732 RCV001143733 RCV002278315 RCV004732829 RCV004782345
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)	SNV Germline	Chr4:169400613	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly not specified	Criteria Provided Conflicting Classifications	CA3137116	rs_35503975	3 SubmittersRCV000280616 RCV000602867
NM_001199397.3(NEK1):c.2974+11T>C	SNV Germline	Chr4:169426135	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA10617401	rs_886059229	2 SubmittersRCV000400197
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)	SNV Germline	Chr4:169585514	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137980	rs_369725706	2 SubmittersRCV000361438
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=)	SNV Germline	Chr4:169400322	Conflicting classifications of pathogenicity	Short rib-polydactyly syndrome Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications	CA10618258	rs_886059225	3 SubmittersRCV000315871 RCV002061243 RCV004742391
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)	SNV Germline	Chr4:169401830	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137165	rs_774338352	2 SubmittersRCV000341346
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)	SNV Germline	Chr4:169424700	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA10618260	rs_886059227	2 SubmittersRCV000397737
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)	SNV Germline	Chr4:169477137	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137419	rs_56346829	3 SubmittersRCV001718743 RCV000878437
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)	SNV Germline	Chr4:169555782	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137719	rs_776664093	2 SubmittersRCV000405300
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)	SNV Germline	Chr4:169585470	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137975	rs_61737748	4 SubmittersRCV000981694 RCV004725182 RCV003950226
NM_001199397.3(NEK1):c.3583+8A>C	SNV Germline	Chr4:169401644	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3137136	rs_192372022	3 SubmittersRCV000319107 RCV002278574
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)	SNV Germline	Chr4:169401668	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3137141	rs_200710438	3 SubmittersRCV000945733 RCV001578049
NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu)	SNV Germline	Chr4:169577052	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3137915	rs_201587614	2 SubmittersRCV000358021 RCV002523468
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_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_020779.4(WDR35):c.206G>A (p.Gly69Asp)	SNV Germline	Chr2:19982471	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA43388469	rs_765513105	8 SubmittersRCV000515824 RCV000591001 RCV003326443 RCV004696921
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.131C>A (p.Ala44Asp)	SNV Germline	Chr2:165949615	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided	CA349056195	rs_1553516687	2 SubmittersRCV000516137
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys)	SNV Germline	Chr2:238325351	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided	CA2197964	rs_769651861	2 SubmittersRCV000516088
NM_015650.4(TRAF3IP1):c.988-1G>C	SNV Germline	Chr2:238333959	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided TRAF3IP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2198230	rs_372499275	4 SubmittersRCV000515883 RCV001857884 RCV003409730
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)	SNV Germline	Chr2:43794530	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided	CA1635825	rs_76483206	2 SubmittersRCV000516090
NM_001199397.3(NEK1):c.2886-1G>A	SNV Germline	Chr4:169426235	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided	CA3137289	rs_773496891	2 SubmittersRCV000515958
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)	SNV Germline	Chr4:169537856	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	No Assertion Criteria Provided	CA3137684	rs_758677637	3 SubmittersRCV000515960 RCV004742475
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)	SNV Germline	Chr4:169561520	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Mohr syndrome	Criteria Provided Multiple Submitters No Conflicts	CA109930891	rs_985064686	7 SubmittersRCV000515987 RCV000756417 RCV003766906
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)	SNV Germline	Chr4:169589493	Likely pathogenic	Type IV short rib polydactyly syndrome Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter	CA358741166	rs_1301705612	3 SubmittersRCV000515887 RCV003152715
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	SNV Germline	Chr4:5631795	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Type IV short rib polydactyly syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2834978	rs_769864196	9 SubmittersRCV000515819 RCV000516102 RCV000666197 RCV001245243 RCV001574376
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	SNV Germline	Chr4:5729369	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA91718338	rs_748523193	5 SubmittersRCV000516149 RCV000665849 RCV001045278
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_001199397.3(NEK1):c.2889G>A (p.Ser963=)	SNV Germline	Chr4:169426231	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA3137284	rs_756830252	3 SubmittersRCV000519117 RCV002060285
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)	SNV Germline	Chr4:169537826	Pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter	CA3137680	rs_371575563	2 SubmittersRCV000585741 RCV001380778
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)	SNV Germline	Chr4:169426180	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3137277	rs_56252746	4 SubmittersRCV000952026 RCV001719108 RCV002279440
NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser)	SNV Germline	Chr4:169588686	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided		rs_1554075506	1 SubmittersRCV000656514
NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala)	SNV Germline	Chr4:169400242	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	No Assertion Criteria Provided		rs_1157065841	1 SubmittersRCV000656516
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg)	SNV Germline	Chr4:169438200	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_141491586	3 SubmittersRCV000728038 RCV001414381 RCV004649298
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)	SNV Germline	Chr4:169580851	Conflicting classifications of pathogenicity	Cough Immunodeficiency Lymphopenia Cor triatriatum dexter Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Connective tissue disorder NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_35222922	5 SubmittersRCV000735387 RCV001811459 RCV002067180 RCV002279508 RCV003928252
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)	SNV Germline	Chr4:169577024	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_10034957	6 SubmittersRCV001088521 RCV001560050 RCV003938133
NM_001199397.3(NEK1):c.426A>G (p.Val142=)	SNV Germline	Chr4:169589485	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_200769726	4 SubmittersRCV000756418 RCV002279515 RCV003523023 RCV003975301
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)	SNV Germline	Chr4:169562154	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_35763578	4 SubmittersRCV000796428 RCV003117586
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)	SNV Germline	Chr4:169537857	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_146569517	3 SubmittersRCV000904469 RCV001811536
NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)	SNV Germline	Chr4:169599135	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_201350526	2 SubmittersRCV000908886 RCV001150481
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)	SNV Germline	Chr4:169424640	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_370713361	2 SubmittersRCV001144154
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)	SNV Germline	Chr4:169406681	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_374890006	2 SubmittersRCV001150296
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)	SNV Germline	Chr4:169424634	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_190807750	2 SubmittersRCV001144153
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)	SNV Germline	Chr4:169477476	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201726561	4 SubmittersRCV001148830 RCV003413954 RCV002559430
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)	SNV Germline	Chr4:169479406	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_760404694	2 SubmittersRCV001148832
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His)	SNV Germline	Chr4:169555831	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201793759	3 SubmittersRCV001144276 RCV002557080
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)	SNV Germline	Chr4:169577036	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_139433990	4 SubmittersRCV001146161 RCV001811672 RCV003938506
NM_001199397.3(NEK1):c.3715-6G>C	SNV Germline	Chr4:169400363	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_771507979	3 SubmittersRCV001148733 RCV003963090
NM_001199397.3(NEK1):c.2587+14G>T	SNV Germline	Chr4:169463229	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_368032168	2 SubmittersRCV001146040
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)	SNV Germline	Chr4:169463291	Likely pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter		rs_1744312712	2 SubmittersRCV001283787 RCV004762049
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)	SNV Germline	Chr4:169406633	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1732670701	2 SubmittersRCV001291528 RCV003127762
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)	SNV Germline	Chr4:169556028	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_574204412	4 SubmittersRCV001330483
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)	SNV Germline	Chr4:169424582	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_371084271	4 SubmittersRCV001475508 RCV001566607 RCV003980398
NM_001199397.3(NEK1):c.868+1G>C	SNV Germline	Chr4:169580841	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_897732893	3 SubmittersRCV001766268 RCV001885087 RCV004743574
NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter)	SNV Germline	Chr4:169479453	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter		rs_2149558070	1 SubmittersRCV001784738
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)	SNV Germline	Chr4:169507087	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_773156346	3 SubmittersRCV001806406 RCV003147682 RCV003327523
NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His)	SNV Germline	Chr4:169401844	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter		rs_2111032650	1 SubmittersRCV001806415
NM_001199397.3(NEK1):c.465T>C (p.Ser155=)	SNV Germline	Chr4:169588735	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1234437874	2 SubmittersRCV001968858 RCV004044643
NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter)	SNV Germline	Chr4:169561843	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter		rs_1482234746	1 SubmittersRCV001960542
NM_001199397.3(NEK1):c.2588-2A>G	SNV Germline	Chr4:169438261	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24	Criteria Provided Multiple Submitters No Conflicts		rs_201769828	3 SubmittersRCV001971012 RCV002497931
NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter)	SNV Germline	Chr4:169424584	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter		rs_2111335168	1 SubmittersRCV002052124
NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)	SNV Germline	Chr4:169400623	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_376870683	2 SubmittersRCV002135178 RCV003408144
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu)	SNV Germline	Chr4:169406681	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_374890006	2 SubmittersRCV002170956 RCV003126168
NM_001199397.3(NEK1):c.1335T>C (p.His445=)	SNV Germline	Chr4:169556027	Conflicting classifications of pathogenicity	Connective tissue disorder Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications		rs_776957816	3 SubmittersRCV002278783 RCV003101594 RCV004744337
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)	SNV Germline	Chr4:169577054	Conflicting classifications of pathogenicity	Connective tissue disorder Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications		rs_745526568	3 SubmittersRCV002278788 RCV003096285
NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter)	SNV Germline	Chr4:169589469	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV002290318
NM_001199397.3(NEK1):c.1020+1G>A	SNV Germline	Chr4:169576927	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003106460
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)	SNV Germline	Chr4:169537868	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Short rib-polydactyly syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002579804 RCV004017941
NM_001199397.3(NEK1):c.1562+2T>G	SNV Germline	Chr4:169555718	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV002622532
NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)	SNV Germline	Chr4:169561701	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003017667
NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)	SNV Germline	Chr4:169479432	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003041632 RCV003250700
NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)	SNV Germline	Chr4:169401654	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003055481
NM_001199397.3(NEK1):c.2008-5T>A	SNV Germline	Chr4:169479539	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003522461 RCV004526992
NM_001199397.3(NEK1):c.118-1G>A	SNV Germline	Chr4:169602105	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003522452
NM_001199397.3(NEK1):c.606+1G>C	SNV Germline	Chr4:169587558	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003523715
NM_001199397.3(NEK1):c.1833+1G>T	SNV Germline	Chr4:169508247	Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003523834
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)	SNV Germline	Chr4:169508258	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003635472 RCV004790592
NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)	SNV Germline	Chr4:169555967	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003837212
NM_001199397.3(NEK1):c.3584-10T>A	SNV Germline	Chr4:169400661	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter			1 SubmittersRCV004698461

NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)

SNV
Germline

Chr4:5640789

Pathogenic

Ellis-van Creveld syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116164

rs_137852924

11 SubmittersRCV000003550 RCV000516144 RCV000578498 RCV000763528

NM_153717.3(EVC):c.1886+5G>T

SNV
Germline

Chr4:5793722

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA212828

rs_794726665

7 SubmittersRCV000005666 RCV000438781 RCV000516013 RCV001851677

NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr4:5748226

Pathogenic

Ellis-van Creveld syndrome
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA117416

rs_121908425

12 SubmittersRCV000005668 RCV000255270 RCV000516113 RCV000807465

NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr4:169590743

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder
Condition: not provided

Criteria Provided
Single Submitter

CA210565

rs_387906890

3 SubmittersRCV000023381 RCV004742231 RCV004760339

NM_001199397.3(NEK1):c.869-2A>G

SNV
Germline

Chr4:169577081

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

CA210567

rs_483352906

1 SubmittersRCV000023382

NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg)

SNV
Germline

Chr4:169589478

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

CA210582

rs_431905508

1 SubmittersRCV000033162

NM_001199397.3(NEK1):c.869-1G>T

SNV
Germline

Chr4:169577080

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210628

rs_794727032

3 SubmittersRCV000174122 RCV000724706

NM_001199397.3(NEK1):c.117+1G>A

SNV
Germline

Chr4:169602513

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA210629

rs_794727285

2 SubmittersRCV000175848 RCV001852159

NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu)

SNV
Germline

Chr4:169477307

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242459

rs_752582295

3 SubmittersRCV000176490 RCV002056950 RCV004639163

NM_001199397.3(NEK1):c.594A>G (p.Thr198=)

SNV
Germline

Chr4:169587571

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA247697

rs_373252814

5 SubmittersRCV000180307 RCV000724657 RCV003635906 RCV004742319

NM_001199397.3(NEK1):c.782G>A (p.Arg261His)

SNV
Germline

Chr4:169585374

Conflicting classifications of pathogenicity

not specified
Motor neuron disease
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA203762

rs_200161705

9 SubmittersRCV000180637 RCV000492285 RCV000659006 RCV001086419 RCV002287889 RCV003917685

NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)

SNV
Germline

Chr4:169424668

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Amyotrophic lateral sclerosis, susceptibility to, 24
Amyotrophic lateral sclerosis, susceptibility to, 24
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210638

rs_199947197

12 SubmittersRCV000190609 RCV000519626 RCV000585742 RCV000763117 RCV003947589

NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)

SNV
Germline

Chr4:169424635

Conflicting classifications of pathogenicity

Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137229

rs_377607698

2 SubmittersRCV000492346 RCV002521864

NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)

SNV
Germline

Chr4:169477166

Conflicting classifications of pathogenicity

Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA358732682

rs_1131690778

2 SubmittersRCV000492161 RCV001859501

NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)

SNV
Germline

Chr4:169477252

Conflicting classifications of pathogenicity

Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137445

rs_375173827

4 SubmittersRCV000492146 RCV001146042 RCV003967695

NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)

SNV
Germline

Chr4:169477323

Conflicting classifications of pathogenicity

not specified
Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3137455

rs_34324114

8 SubmittersRCV000355743 RCV000492324 RCV001080200 RCV001683152

NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)

SNV
Germline

Chr4:169479405

Conflicting classifications of pathogenicity

not specified
Motor neuron disease
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137507

rs_199827465

7 SubmittersRCV000334816 RCV000492577 RCV000756420 RCV001148831

NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)

SNV
Germline

Chr4:169508292

Conflicting classifications of pathogenicity

Motor neuron disease
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137633

rs_776098853

3 SubmittersRCV000492300 RCV000321359 RCV003635907

NM_001199397.3(NEK1):c.1750-5T>C

SNV
Germline

Chr4:169508336

Conflicting classifications of pathogenicity

Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137635

rs_199522035

3 SubmittersRCV000492085 RCV000894811 RCV003939928

NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)

SNV
Germline

Chr4:169561835

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis, susceptibility to, 24
Motor neuron disease
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137845

rs_372585344

7 SubmittersRCV000280217 RCV000492702 RCV000659005 RCV002518774 RCV003409388

NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)

SNV
Germline

Chr4:169562196

Conflicting classifications of pathogenicity

not specified
Motor neuron disease
Condition: not provided
Cor triatriatum dexter
Cough
Lymphopenia
Immunodeficiency
Short-rib thoracic dysplasia 6 with or without polydactyly
Connective tissue disorder
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137876

rs_189186475

11 SubmittersRCV000347897 RCV000492472 RCV000725283 RCV000735386 RCV001088091 RCV002278253 RCV003939927

NM_001199397.3(NEK1):c.695G>A (p.Arg232His)

SNV
Germline

Chr4:169585461

Conflicting classifications of pathogenicity

Motor neuron disease
not specified
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137972

rs_772747361

3 SubmittersRCV000492453 RCV000503332 RCV001859500

NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)

SNV
Germline

Chr4:169588719

Pathogenic; other

Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3138011

rs_202115635

3 SubmittersRCV000492640 RCV002521865 RCV003947821

NM_001199397.3(NEK1):c.214+1G>A

SNV
Germline

Chr4:169602007

Pathogenic; other

Motor neuron disease
Short-rib thoracic dysplasia 6 with or without polydactyly
Connective tissue disorder
NEK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA109925864

rs_1049502301

6 SubmittersRCV000492619 RCV000515986 RCV002278254 RCV003955418

NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)

SNV
Germline

Chr4:169401824

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Connective tissue disorder
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137163

rs_56077602

10 SubmittersRCV000297324 RCV001084334 RCV002278276 RCV003930081

NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg)

SNV
Germline

Chr4:169424728

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3137249

rs_200619983

3 SubmittersRCV000403066 RCV001442121 RCV004955380

NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)

SNV
Germline

Chr2:19966735

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Connective tissue disorder
WDR35-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1543330

rs_143343508

10 SubmittersRCV000395590 RCV000515966 RCV001086026 RCV001143732 RCV001143733 RCV002278315 RCV004732829 RCV004782345

NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)

SNV
Germline

Chr4:169400613

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
not specified

Criteria Provided
Conflicting Classifications

CA3137116

rs_35503975

3 SubmittersRCV000280616 RCV000602867

NM_001199397.3(NEK1):c.2974+11T>C

SNV
Germline

Chr4:169426135

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA10617401

rs_886059229

2 SubmittersRCV000400197

NM_001199397.3(NEK1):c.642G>A (p.Lys214=)

SNV
Germline

Chr4:169585514

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137980

rs_369725706

2 SubmittersRCV000361438

NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=)

SNV
Germline

Chr4:169400322

Conflicting classifications of pathogenicity

Short rib-polydactyly syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA10618258

rs_886059225

3 SubmittersRCV000315871 RCV002061243 RCV004742391

NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)

SNV
Germline

Chr4:169401830

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137165

rs_774338352

2 SubmittersRCV000341346

NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)

SNV
Germline

Chr4:169424700

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA10618260

rs_886059227

2 SubmittersRCV000397737

NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)

SNV
Germline

Chr4:169477137

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137419

rs_56346829

3 SubmittersRCV001718743 RCV000878437

NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)

SNV
Germline

Chr4:169555782

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137719

rs_776664093

2 SubmittersRCV000405300

NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)

SNV
Germline

Chr4:169585470

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137975

rs_61737748

4 SubmittersRCV000981694 RCV004725182 RCV003950226

NM_001199397.3(NEK1):c.3583+8A>C

SNV
Germline

Chr4:169401644

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA3137136

rs_192372022

3 SubmittersRCV000319107 RCV002278574

NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)

SNV
Germline

Chr4:169401668

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3137141

rs_200710438

3 SubmittersRCV000945733 RCV001578049

NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu)

SNV
Germline

Chr4:169577052

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3137915

rs_201587614

2 SubmittersRCV000358021 RCV002523468

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_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_020779.4(WDR35):c.206G>A (p.Gly69Asp)

SNV
Germline

Chr2:19982471

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA43388469

rs_765513105

8 SubmittersRCV000515824 RCV000591001 RCV003326443 RCV004696921

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.131C>A (p.Ala44Asp)

SNV
Germline

Chr2:165949615

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

CA349056195

rs_1553516687

2 SubmittersRCV000516137

NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr2:238325351

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

CA2197964

rs_769651861

2 SubmittersRCV000516088

NM_015650.4(TRAF3IP1):c.988-1G>C

SNV
Germline

Chr2:238333959

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
TRAF3IP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2198230

rs_372499275

4 SubmittersRCV000515883 RCV001857884 RCV003409730

NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)

SNV
Germline

Chr2:43794530

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

CA1635825

rs_76483206

2 SubmittersRCV000516090

NM_001199397.3(NEK1):c.2886-1G>A

SNV
Germline

Chr4:169426235

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

CA3137289

rs_773496891

2 SubmittersRCV000515958

NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)

SNV
Germline

Chr4:169537856

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

No Assertion Criteria Provided

CA3137684

rs_758677637

3 SubmittersRCV000515960 RCV004742475

NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)

SNV
Germline

Chr4:169561520

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Mohr syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA109930891

rs_985064686

7 SubmittersRCV000515987 RCV000756417 RCV003766906

NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)

SNV
Germline

Chr4:169589493

Likely pathogenic

Type IV short rib polydactyly syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

CA358741166

rs_1301705612

3 SubmittersRCV000515887 RCV003152715

NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)

SNV
Germline

Chr4:5631795

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Type IV short rib polydactyly syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2834978

rs_769864196

9 SubmittersRCV000515819 RCV000516102 RCV000666197 RCV001245243 RCV001574376

NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr4:5729369

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA91718338

rs_748523193

5 SubmittersRCV000516149 RCV000665849 RCV001045278

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_001199397.3(NEK1):c.2889G>A (p.Ser963=)

SNV
Germline

Chr4:169426231

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA3137284

rs_756830252

3 SubmittersRCV000519117 RCV002060285

NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)

SNV
Germline

Chr4:169537826

Pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

CA3137680

rs_371575563

2 SubmittersRCV000585741 RCV001380778

NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)

SNV
Germline

Chr4:169426180

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA3137277

rs_56252746

4 SubmittersRCV000952026 RCV001719108 RCV002279440

NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser)

SNV
Germline

Chr4:169588686

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

rs_1554075506

1 SubmittersRCV000656514

NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala)

SNV
Germline

Chr4:169400242

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

No Assertion Criteria Provided

rs_1157065841

1 SubmittersRCV000656516

NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg)

SNV
Germline

Chr4:169438200

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141491586

3 SubmittersRCV000728038 RCV001414381 RCV004649298

NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)

SNV
Germline

Chr4:169580851

Conflicting classifications of pathogenicity

Cough
Immunodeficiency
Lymphopenia
Cor triatriatum dexter
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Connective tissue disorder
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_35222922

5 SubmittersRCV000735387 RCV001811459 RCV002067180 RCV002279508 RCV003928252

NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)

SNV
Germline

Chr4:169577024

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_10034957

6 SubmittersRCV001088521 RCV001560050 RCV003938133

NM_001199397.3(NEK1):c.426A>G (p.Val142=)

SNV
Germline

Chr4:169589485

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_200769726

4 SubmittersRCV000756418 RCV002279515 RCV003523023 RCV003975301

NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)

SNV
Germline

Chr4:169562154

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_35763578

4 SubmittersRCV000796428 RCV003117586

NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)

SNV
Germline

Chr4:169537857

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146569517

3 SubmittersRCV000904469 RCV001811536

NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)

SNV
Germline

Chr4:169599135

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_201350526

2 SubmittersRCV000908886 RCV001150481

NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)

SNV
Germline

Chr4:169424640

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_370713361

2 SubmittersRCV001144154

NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)

SNV
Germline

Chr4:169406681

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_374890006

2 SubmittersRCV001150296

NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)

SNV
Germline

Chr4:169424634

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_190807750

2 SubmittersRCV001144153

NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)

SNV
Germline

Chr4:169477476

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201726561

4 SubmittersRCV001148830 RCV003413954 RCV002559430

NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)

SNV
Germline

Chr4:169479406

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_760404694

2 SubmittersRCV001148832

NM_001199397.3(NEK1):c.1451G>A (p.Arg484His)

SNV
Germline

Chr4:169555831

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201793759

3 SubmittersRCV001144276 RCV002557080

NM_001199397.3(NEK1):c.912T>C (p.Pro304=)

SNV
Germline

Chr4:169577036

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_139433990

4 SubmittersRCV001146161 RCV001811672 RCV003938506

NM_001199397.3(NEK1):c.3715-6G>C

SNV
Germline

Chr4:169400363

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_771507979

3 SubmittersRCV001148733 RCV003963090

NM_001199397.3(NEK1):c.2587+14G>T

SNV
Germline

Chr4:169463229

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_368032168

2 SubmittersRCV001146040

NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)

SNV
Germline

Chr4:169463291

Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

rs_1744312712

2 SubmittersRCV001283787 RCV004762049

NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)

SNV
Germline

Chr4:169406633

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1732670701

2 SubmittersRCV001291528 RCV003127762

NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)

SNV
Germline

Chr4:169556028

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_574204412

4 SubmittersRCV001330483

NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)

SNV
Germline

Chr4:169424582

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_371084271

4 SubmittersRCV001475508 RCV001566607 RCV003980398

NM_001199397.3(NEK1):c.868+1G>C

SNV
Germline

Chr4:169580841

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_897732893

3 SubmittersRCV001766268 RCV001885087 RCV004743574

NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter)

SNV
Germline

Chr4:169479453

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

rs_2149558070

1 SubmittersRCV001784738

NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)

SNV
Germline

Chr4:169507087

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_773156346

3 SubmittersRCV001806406 RCV003147682 RCV003327523

NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His)

SNV
Germline

Chr4:169401844

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

rs_2111032650

1 SubmittersRCV001806415

NM_001199397.3(NEK1):c.465T>C (p.Ser155=)

SNV
Germline

Chr4:169588735

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1234437874

2 SubmittersRCV001968858 RCV004044643

NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr4:169561843

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

rs_1482234746

1 SubmittersRCV001960542

NM_001199397.3(NEK1):c.2588-2A>G

SNV
Germline

Chr4:169438261

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24

Criteria Provided
Multiple Submitters
No Conflicts

rs_201769828

3 SubmittersRCV001971012 RCV002497931

NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter)

SNV
Germline

Chr4:169424584

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

rs_2111335168

1 SubmittersRCV002052124

NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)

SNV
Germline

Chr4:169400623

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_376870683

2 SubmittersRCV002135178 RCV003408144

NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu)

SNV
Germline

Chr4:169406681

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374890006

2 SubmittersRCV002170956 RCV003126168

NM_001199397.3(NEK1):c.1335T>C (p.His445=)

SNV
Germline

Chr4:169556027

Conflicting classifications of pathogenicity

Connective tissue disorder
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

rs_776957816

3 SubmittersRCV002278783 RCV003101594 RCV004744337

NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)

SNV
Germline

Chr4:169577054

Conflicting classifications of pathogenicity

Connective tissue disorder
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

rs_745526568

3 SubmittersRCV002278788 RCV003096285

NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter)

SNV
Germline

Chr4:169589469

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002290318

NM_001199397.3(NEK1):c.1020+1G>A

SNV
Germline

Chr4:169576927

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003106460

NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)

SNV
Germline

Chr4:169537868

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Short rib-polydactyly syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002579804 RCV004017941

NM_001199397.3(NEK1):c.1562+2T>G

SNV
Germline

Chr4:169555718

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV002622532

NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)

SNV
Germline

Chr4:169561701

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003017667

NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)

SNV
Germline

Chr4:169479432

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003041632 RCV003250700

NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)

SNV
Germline

Chr4:169401654

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003055481

NM_001199397.3(NEK1):c.2008-5T>A

SNV
Germline

Chr4:169479539

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003522461 RCV004526992

NM_001199397.3(NEK1):c.118-1G>A

SNV
Germline

Chr4:169602105

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003522452

NM_001199397.3(NEK1):c.606+1G>C

SNV
Germline

Chr4:169587558

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003523715

NM_001199397.3(NEK1):c.1833+1G>T

SNV
Germline

Chr4:169508247

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003523834

NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)

SNV
Germline

Chr4:169508258

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003635472 RCV004790592

NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)

SNV
Germline

Chr4:169555967

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003837212

NM_001199397.3(NEK1):c.3584-10T>A

SNV
Germline

Chr4:169400661

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV004698461