Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)	SNV Germline	Chr9:91724990	Pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA254142	rs_121909083	2 SubmittersRCV000007730
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys)	SNV Germline	Chr9:91737463	Likely pathogenic	Autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Single Submitter	CA254144	rs_121909084	2 SubmittersRCV000007731 RCV005042008
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)	SNV Germline	Chr9:91724334	Pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA254145	rs_121909085	1 SubmittersRCV000007732
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)	SNV Germline	Chr9:91737400	Pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA254147	rs_121909086	2 SubmittersRCV000007733
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)	SNV Germline	Chr9:91757380	Pathogenic	Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Single Submitter	CA254149	rs_121909087	3 SubmittersRCV000007738 RCV000238984
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)	SNV Germline	Chr9:91726603	Pathogenic	Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118710	rs_267607016	7 SubmittersRCV000007742 RCV000761457 RCV005042009 RCV003441709
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)	SNV Germline	Chr9:91723689	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome not specified Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA248106	rs_41277835	9 SubmittersRCV000147390 RCV000180606 RCV000262682 RCV000513925
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)	SNV Germline	Chr9:91724209	Conflicting classifications of pathogenicity	Brachydactyly, type B1Robinow syndrome, autosomal recessive Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA173326	rs_34491822	6 SubmittersRCV000147388 RCV000180603 RCV000337021 RCV000398258
NM_004560.4(ROR2):c.1970G>A (p.Arg657His)	SNV Germline	Chr9:91724524	Conflicting classifications of pathogenicity	Brachydactyly, type B1Robinow syndrome, autosomal recessive Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA173318	rs_529829552	5 SubmittersRCV000147384 RCV000171424 RCV001353137 RCV005042286
NM_004560.4(ROR2):c.1959G>A (p.Leu653=)	SNV Germline	Chr9:91724535	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA272467	rs_144549032	4 SubmittersRCV000147383 RCV000374484 RCV000886960
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)	SNV Germline	Chr9:91731107	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided ROR2-related disorder	Criteria Provided Conflicting Classifications	CA272469	rs_371221714	5 SubmittersRCV000147395 RCV000276095 RCV000894196 RCV004544344
NM_004560.4(ROR2):c.75G>A (p.Leu25=)	SNV Germline	Chr9:91949889	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome not specified Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA200468	rs_148237260	5 SubmittersRCV000147393 RCV000173351 RCV000308365 RCV000974248
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr)	SNV Germline	Chr9:91757437	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA243328	rs_374692105	4 SubmittersRCV000177208 RCV000724079 RCV005396538
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)	SNV Germline	Chr9:91731039	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA247195	rs_569242465	4 SubmittersRCV000179888 RCV005049459
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)	SNV Germline	Chr9:91724099	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1 ROR2-related disorder	Criteria Provided Conflicting Classifications	CA248104	rs_141235720	8 SubmittersRCV000180604 RCV000285938 RCV000343192 RCV004537514
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)	SNV Germline	Chr9:91724414	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA248108	rs_142386992	5 SubmittersRCV000180607 RCV000660425 RCV002503700
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)	SNV Germline	Chr9:91724758	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome ROR2-related disorder	Criteria Provided Conflicting Classifications	CA5120589	rs_150610444	5 SubmittersRCV000312525 RCV001169178 RCV001169179 RCV004542985
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)	SNV Germline	Chr9:91724824	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120616	rs_56099091	5 SubmittersRCV000324883 RCV000377123 RCV000406751 RCV002519120
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)	SNV Germline	Chr9:91724738	Conflicting classifications of pathogenicity	Brachydactyly type B1 Condition: not provided Autosomal recessive Robinow syndrome ROR2-related disorder	Criteria Provided Conflicting Classifications	CA5120580	rs_142386294	4 SubmittersRCV000314104 RCV000324852 RCV000395654 RCV004543050
NM_004560.4(ROR2):c.2240G>A (p.Arg747Gln)	SNV Germline	Chr9:91724254	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120441	rs_201155263	6 SubmittersRCV002519220 RCV000659115 RCV005049514
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)	SNV Germline	Chr9:91723810	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120335	rs_149826387	4 SubmittersRCV000330356 RCV000332907 RCV000389667
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)	SNV Germline	Chr9:91737445	Conflicting classifications of pathogenicity	Brachydactyly type B1 Condition: not provided Autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120972	rs_34574788	5 SubmittersRCV000271810 RCV000337531 RCV000329348 RCV005044545
NM_004560.4(ROR2):c.2190C>T (p.Asn730=)	SNV Germline	Chr9:91724304	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120464	rs_372509332	2 SubmittersRCV000275056 RCV000367313 RCV002058817
NM_004560.4(ROR2):c.1491G>A (p.Pro497=)	SNV Germline	Chr9:91725003	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided ROR2-related disorder	Criteria Provided Conflicting Classifications	CA5120670	rs_146347005	4 SubmittersRCV000349239 RCV000296550 RCV000903900 RCV004530492
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)	SNV Germline	Chr9:91725046	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120683	rs_767474960	3 SubmittersRCV000290524 RCV000397545 RCV000731519
NM_004560.4(ROR2):c.1184-10T>C	SNV Germline	Chr9:91726753	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120755	rs_184670366	1 SubmittersRCV000263077 RCV000359431
NM_004560.4(ROR2):c.702C>T (p.Phe234=)	SNV Germline	Chr9:91733357	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120919	rs_559697443	2 SubmittersRCV000277682 RCV000369670 RCV002058821
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val)	SNV Germline	Chr9:91726620	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120732	rs_149842671	4 SubmittersRCV000308020 RCV000360660 RCV002058818 RCV005049531 RCV002524607
NM_004560.4(ROR2):c.864G>A (p.Ala288=)	SNV Germline	Chr9:91733195	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120871	rs_142926399	2 SubmittersRCV000287985 RCV000345180 RCV000900090
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile)	SNV Germline	Chr9:91723845	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120341	rs_373037095	2 SubmittersRCV000293100 RCV000331525 RCV001861351
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)	SNV Germline	Chr9:91724282	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Short stature ROR2-related disorder Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120455	rs_56231927	5 SubmittersRCV000276157 RCV000314957 RCV001310262 RCV004530491 RCV002523819 RCV005049530
NM_004560.4(ROR2):c.1416G>A (p.Ala472=)	SNV Germline	Chr9:91725078	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120688	rs_201064212	2 SubmittersRCV000347862 RCV000397540 RCV001464193
NM_004560.4(ROR2):c.-121A>C	SNV Germline	Chr9:91950084	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA10634110	rs_555789981	1 SubmittersRCV000280726 RCV000349772
NM_004560.4(ROR2):c.*520C>T	SNV Germline	Chr9:91723142	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA10634450	rs_367760102	1 SubmittersRCV000320989 RCV000375734
NM_004560.4(ROR2):c.2277G>A (p.Ala759=)	SNV Germline	Chr9:91724217	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120430	rs_369491865	2 SubmittersRCV000297240 RCV000354523 RCV003766112
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu)	SNV Germline	Chr9:91724774	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120595	rs_140579674	2 SubmittersRCV000352520 RCV000400229 RCV002523820
NM_004560.4(ROR2):c.153C>T (p.Asp51=)	SNV Germline	Chr9:91775763	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided ROR2-related disorder	Criteria Provided Conflicting Classifications	CA5121123	rs_572950289	3 SubmittersRCV000337763 RCV000395571 RCV000899530 RCV004544718
NM_004560.4(ROR2):c.2628G>A (p.Thr876=)	SNV Germline	Chr9:91723866	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5120345	rs_369201767	4 SubmittersRCV005044884 RCV000594530 RCV005418229
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)	SNV Germline	Chr9:91724911	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120642	rs_142215888	6 SubmittersRCV001168499 RCV001168500 RCV000597656 RCV005418232 RCV002532489
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)	SNV Germline	Chr9:91724255	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120442	rs_374646337	3 SubmittersRCV000657780 RCV002226720
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	SNV Germline	Chr9:91724819	Conflicting classifications of pathogenicity	not specified Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Short stature Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120613	rs_117134265	7 SubmittersRCV000732649 RCV000855500 RCV001310261 RCV000903196 RCV005047000
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)	SNV Germline	Chr9:91757412	Likely pathogenic	Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter	CA373840721	rs_1587690611	2 SubmittersRCV000855449
NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu)	SNV Germline	Chr9:91724050	Conflicting classifications of pathogenicity	Condition: not provided not specified Brachydactyly type B1 Autosomal recessive Robinow syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120394	rs_770921333	4 SubmittersRCV000889980 RCV001818658 RCV005047143 RCV005268803
NM_004560.4(ROR2):c.1716G>A (p.Ser572=)	SNV Germline	Chr9:91724778	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120598	rs_139654946	2 SubmittersRCV000902740 RCV001169181 RCV001169180
NM_004560.4(ROR2):c.777G>T (p.Leu259=)	SNV Germline	Chr9:91733282	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120894	rs_770068276	2 SubmittersRCV000911996 RCV005047147
NM_004560.4(ROR2):c.*106C>T	SNV Germline	Chr9:91723556	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA195321015	rs_531108921	1 SubmittersRCV001169056 RCV001169055
NM_004560.4(ROR2):c.2382G>A (p.Pro794=)	SNV Germline	Chr9:91724112	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120409	rs_532042443	2 SubmittersRCV001168383 RCV001168384 RCV001399464
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=)	SNV Germline	Chr9:91724460	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120504	rs_199681534	2 SubmittersRCV001166714 RCV001166715 RCV001436466
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile)	SNV Germline	Chr9:91724499	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120515	rs_763115397	1 SubmittersRCV001166716 RCV001166717
NM_004560.4(ROR2):c.1956G>A (p.Ser652=)	SNV Germline	Chr9:91724538	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120522	rs_374939956	2 SubmittersRCV001168440 RCV001168441 RCV002559617
NM_004560.4(ROR2):c.1596A>G (p.Gln532=)	SNV Germline	Chr9:91724898	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120638	rs_528393492	2 SubmittersRCV001166786 RCV001166787 RCV002067814
NM_004560.4(ROR2):c.1317G>A (p.Pro439=)	SNV Germline	Chr9:91726610	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5120728	rs_150661792	2 SubmittersRCV001169238 RCV001169239 RCV002068036
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)	SNV Germline	Chr9:91733299	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120900	rs_374492597	3 SubmittersRCV001169313 RCV001169314 RCV002067833 RCV005394779
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu)	SNV Germline	Chr9:91733337	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120912	rs_771096772	3 SubmittersRCV001166902 RCV001166903 RCV001751297 RCV004960511
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp)	SNV Germline	Chr9:91775761	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5121120	rs_201425107	2 SubmittersRCV001169381 RCV001169382 RCV002068039
NM_004560.4(ROR2):c.146G>T (p.Gly49Val)	SNV Germline	Chr9:91775770	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5121125	rs_201991252	1 SubmittersRCV001166439 RCV001166440
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)	SNV Unknown	Chr9:91724279	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA5120453	rs_767802430	1 SubmittersRCV001353140
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)	SNV Germline	Chr9:91724420	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373796245	rs_2118616453	1 SubmittersRCV001353138
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)	SNV Unknown	Chr9:91724639	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373797301	rs_1489361512	1 SubmittersRCV001353136
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)	SNV Germline	Chr9:91724978	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373798352	rs_2118626297	1 SubmittersRCV001353135
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)	SNV Germline	Chr9:91726738	Pathogenic	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA373799828	rs_1308509155	5 SubmittersRCV001353124 RCV003314001 RCV003433099
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)	SNV Germline	Chr9:91730993	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373800040	rs_2118683614	1 SubmittersRCV001353123
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)	SNV Germline	Chr9:91730997	Likely pathogenic	Autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Single Submitter	CA373800048	rs_2118683688	2 SubmittersRCV001353134 RCV002499451
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe)	SNV Unknown	Chr9:91733160	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373800691	rs_2118699409	1 SubmittersRCV001353132
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter)	SNV Unknown	Chr9:91733342	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373801228	rs_56302651	1 SubmittersRCV001353131
NM_004560.4(ROR2):c.623-11G>A	SNV Germline	Chr9:91733447	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA653172855	rs_1350375399	4 SubmittersRCV001353129 RCV001732097
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)	SNV Germline	Chr9:91757487	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373840874	rs_1434209233	1 SubmittersRCV001353127
NM_004560.4(ROR2):c.2T>G (p.Met1Arg)	SNV Germline	Chr9:91949962	Pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA373841617	rs_2118126851	1 SubmittersRCV001353121
NM_004560.4(ROR2):c.1746G>A (p.Thr582=)	SNV Germline	Chr9:91724748	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120583	rs_201241207	2 SubmittersRCV001304048 RCV002493595
NM_004560.4(ROR2):c.175+1G>A	SNV Germline	Chr9:91775740	Likely pathogenic	Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Multiple Submitters No Conflicts	CA5121113	rs_753069829	2 SubmittersRCV001377292 RCV002499774
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys)	SNV Germline	Chr9:91731143	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA195331575	rs_756479236	1 SubmittersRCV001391176
NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)	SNV Germline	Chr9:91723796	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120330	rs_202213533	3 SubmittersRCV001488912 RCV005040290
NM_004560.4(ROR2):c.1969C>T (p.Arg657Cys)	SNV Germline	Chr9:91724525	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome ROR2-related disorder	Criteria Provided Conflicting Classifications	CA5120517	rs_753875871	3 SubmittersRCV001546462 RCV005040315 RCV004734227
NM_004560.4(ROR2):c.768C>T (p.Cys256=)	SNV Germline	Chr9:91733291	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120897	rs_772113008	2 SubmittersRCV002484529 RCV001951967
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)	SNV Germline	Chr9:91724912	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Multiple Submitters No Conflicts	CA373798056	rs_1448877786	3 SubmittersRCV001942300 RCV003444965 RCV005050482
NM_004560.4(ROR2):c.1703G>A (p.Arg568His)	SNV Germline	Chr9:91724791	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120603	rs_755191901	2 SubmittersRCV002120040 RCV005042729
NM_004560.4(ROR2):c.1087G>A (p.Ala363Thr)	SNV Germline	Chr9:91731006	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120802	rs_200192277	3 SubmittersRCV002097722 RCV004045782 RCV005050537
NM_004560.4(ROR2):c.1480G>A (p.Gly494Ser)	SNV Germline	Chr9:91725014	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Conflicting Classifications	CA5120674	rs_138310082	3 SubmittersRCV002089373 RCV005433613 RCV005042709
NM_004560.4(ROR2):c.1184-1G>T	SNV Germline	Chr9:91726744	Pathogenic	Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter	CA373799842	rs_2118645585	1 SubmittersRCV002226817
NM_004560.4(ROR2):c.154G>A (p.Gly52Ser)	SNV Germline	Chr9:91775762	Conflicting classifications of pathogenicity	Inborn genetic diseases Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5121121	rs_781040501	3 SubmittersRCV004070301 RCV005045217 RCV003076738
NM_004560.4(ROR2):c.2353C>T (p.Arg785Cys)	SNV Germline	Chr9:91724141	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120416	rs_547359309	2 SubmittersRCV003121328 RCV005047415
NM_004560.4(ROR2):c.1856G>A (p.Arg619His)	SNV Germline	Chr9:91724638	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120547	rs_779165681	2 SubmittersRCV002790049 RCV003269526
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)	SNV Germline	Chr9:91733419	Likely pathogenic	Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter	CA373801523	rs_1336789467	1 SubmittersRCV002790050
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)	SNV Germline	Chr9:91733205	Likely pathogenic	Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter	CA5120874	rs_768848657	1 SubmittersRCV003228722
NM_004560.4(ROR2):c.2018C>G (p.Ser673Ter)	SNV Germline	Chr9:91724476	Likely pathogenic	Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Single Submitter			1 SubmittersRCV005049212
NM_004560.4(ROR2):c.799G>T (p.Glu267Ter)	SNV Germline	Chr9:91733260	Likely pathogenic	Autosomal recessive Robinow syndrome Brachydactyly type B1	Criteria Provided Single Submitter			1 SubmittersRCV005048721

NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)

SNV
Germline

Chr9:91724990

Pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA254142

rs_121909083

2 SubmittersRCV000007730

NM_004560.4(ROR2):c.550C>T (p.Arg184Cys)

SNV
Germline

Chr9:91737463

Likely pathogenic

Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Single Submitter

CA254144

rs_121909084

2 SubmittersRCV000007731 RCV005042008

NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)

SNV
Germline

Chr9:91724334

Pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA254145

rs_121909085

1 SubmittersRCV000007732

NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr9:91737400

Pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA254147

rs_121909086

2 SubmittersRCV000007733

NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)

SNV
Germline

Chr9:91757380

Pathogenic

Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA254149

rs_121909087

3 SubmittersRCV000007738 RCV000238984

NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)

SNV
Germline

Chr9:91726603

Pathogenic

Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118710

rs_267607016

7 SubmittersRCV000007742 RCV000761457 RCV005042009 RCV003441709

NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)

SNV
Germline

Chr9:91723689

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
not specified
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248106

rs_41277835

9 SubmittersRCV000147390 RCV000180606 RCV000262682 RCV000513925

NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)

SNV
Germline

Chr9:91724209

Conflicting classifications of pathogenicity

Brachydactyly, type B1Robinow syndrome, autosomal recessive
Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA173326

rs_34491822

6 SubmittersRCV000147388 RCV000180603 RCV000337021 RCV000398258

NM_004560.4(ROR2):c.1970G>A (p.Arg657His)

SNV
Germline

Chr9:91724524

Conflicting classifications of pathogenicity

Brachydactyly, type B1Robinow syndrome, autosomal recessive
Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA173318

rs_529829552

5 SubmittersRCV000147384 RCV000171424 RCV001353137 RCV005042286

NM_004560.4(ROR2):c.1959G>A (p.Leu653=)

SNV
Germline

Chr9:91724535

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA272467

rs_144549032

4 SubmittersRCV000147383 RCV000374484 RCV000886960

NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)

SNV
Germline

Chr9:91731107

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA272469

rs_371221714

5 SubmittersRCV000147395 RCV000276095 RCV000894196 RCV004544344

NM_004560.4(ROR2):c.75G>A (p.Leu25=)

SNV
Germline

Chr9:91949889

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
not specified
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200468

rs_148237260

5 SubmittersRCV000147393 RCV000173351 RCV000308365 RCV000974248

NM_004560.4(ROR2):c.298G>A (p.Ala100Thr)

SNV
Germline

Chr9:91757437

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA243328

rs_374692105

4 SubmittersRCV000177208 RCV000724079 RCV005396538

NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)

SNV
Germline

Chr9:91731039

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA247195

rs_569242465

4 SubmittersRCV000179888 RCV005049459

NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)

SNV
Germline

Chr9:91724099

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA248104

rs_141235720

8 SubmittersRCV000180604 RCV000285938 RCV000343192 RCV004537514

NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)

SNV
Germline

Chr9:91724414

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA248108

rs_142386992

5 SubmittersRCV000180607 RCV000660425 RCV002503700

NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)

SNV
Germline

Chr9:91724758

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA5120589

rs_150610444

5 SubmittersRCV000312525 RCV001169178 RCV001169179 RCV004542985

NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)

SNV
Germline

Chr9:91724824

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5120616

rs_56099091

5 SubmittersRCV000324883 RCV000377123 RCV000406751 RCV002519120

NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)

SNV
Germline

Chr9:91724738

Conflicting classifications of pathogenicity

Brachydactyly type B1
Condition: not provided
Autosomal recessive Robinow syndrome
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA5120580

rs_142386294

4 SubmittersRCV000314104 RCV000324852 RCV000395654 RCV004543050

NM_004560.4(ROR2):c.2240G>A (p.Arg747Gln)

SNV
Germline

Chr9:91724254

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120441

rs_201155263

6 SubmittersRCV002519220 RCV000659115 RCV005049514

NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)

SNV
Germline

Chr9:91723810

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120335

rs_149826387

4 SubmittersRCV000330356 RCV000332907 RCV000389667

NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)

SNV
Germline

Chr9:91737445

Conflicting classifications of pathogenicity

Brachydactyly type B1
Condition: not provided
Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120972

rs_34574788

5 SubmittersRCV000271810 RCV000337531 RCV000329348 RCV005044545

NM_004560.4(ROR2):c.2190C>T (p.Asn730=)

SNV
Germline

Chr9:91724304

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120464

rs_372509332

2 SubmittersRCV000275056 RCV000367313 RCV002058817

NM_004560.4(ROR2):c.1491G>A (p.Pro497=)

SNV
Germline

Chr9:91725003

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA5120670

rs_146347005

4 SubmittersRCV000349239 RCV000296550 RCV000903900 RCV004530492

NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)

SNV
Germline

Chr9:91725046

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120683

rs_767474960

3 SubmittersRCV000290524 RCV000397545 RCV000731519

NM_004560.4(ROR2):c.1184-10T>C

SNV
Germline

Chr9:91726753

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120755

rs_184670366

1 SubmittersRCV000263077 RCV000359431

NM_004560.4(ROR2):c.702C>T (p.Phe234=)

SNV
Germline

Chr9:91733357

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120919

rs_559697443

2 SubmittersRCV000277682 RCV000369670 RCV002058821

NM_004560.4(ROR2):c.1307C>T (p.Ala436Val)

SNV
Germline

Chr9:91726620

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5120732

rs_149842671

4 SubmittersRCV000308020 RCV000360660 RCV002058818 RCV005049531 RCV002524607

NM_004560.4(ROR2):c.864G>A (p.Ala288=)

SNV
Germline

Chr9:91733195

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120871

rs_142926399

2 SubmittersRCV000287985 RCV000345180 RCV000900090

NM_004560.4(ROR2):c.2649G>A (p.Met883Ile)

SNV
Germline

Chr9:91723845

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120341

rs_373037095

2 SubmittersRCV000293100 RCV000331525 RCV001861351

NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)

SNV
Germline

Chr9:91724282

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Short stature
ROR2-related disorder
Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120455

rs_56231927

5 SubmittersRCV000276157 RCV000314957 RCV001310262 RCV004530491 RCV002523819 RCV005049530

NM_004560.4(ROR2):c.1416G>A (p.Ala472=)

SNV
Germline

Chr9:91725078

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120688

rs_201064212

2 SubmittersRCV000347862 RCV000397540 RCV001464193

NM_004560.4(ROR2):c.-121A>C

SNV
Germline

Chr9:91950084

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA10634110

rs_555789981

1 SubmittersRCV000280726 RCV000349772

NM_004560.4(ROR2):c.*520C>T

SNV
Germline

Chr9:91723142

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA10634450

rs_367760102

1 SubmittersRCV000320989 RCV000375734

NM_004560.4(ROR2):c.2277G>A (p.Ala759=)

SNV
Germline

Chr9:91724217

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120430

rs_369491865

2 SubmittersRCV000297240 RCV000354523 RCV003766112

NM_004560.4(ROR2):c.1720G>T (p.Val574Leu)

SNV
Germline

Chr9:91724774

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120595

rs_140579674

2 SubmittersRCV000352520 RCV000400229 RCV002523820

NM_004560.4(ROR2):c.153C>T (p.Asp51=)

SNV
Germline

Chr9:91775763

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA5121123

rs_572950289

3 SubmittersRCV000337763 RCV000395571 RCV000899530 RCV004544718

NM_004560.4(ROR2):c.2628G>A (p.Thr876=)

SNV
Germline

Chr9:91723866

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5120345

rs_369201767

4 SubmittersRCV005044884 RCV000594530 RCV005418229

NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)

SNV
Germline

Chr9:91724911

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5120642

rs_142215888

6 SubmittersRCV001168499 RCV001168500 RCV000597656 RCV005418232 RCV002532489

NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)

SNV
Germline

Chr9:91724255

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120442

rs_374646337

3 SubmittersRCV000657780 RCV002226720

NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)

SNV
Germline

Chr9:91724819

Conflicting classifications of pathogenicity

not specified
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Short stature
Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120613

rs_117134265

7 SubmittersRCV000732649 RCV000855500 RCV001310261 RCV000903196 RCV005047000

NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)

SNV
Germline

Chr9:91757412

Likely pathogenic

Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

CA373840721

rs_1587690611

2 SubmittersRCV000855449

NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu)

SNV
Germline

Chr9:91724050

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Brachydactyly type B1
Autosomal recessive Robinow syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5120394

rs_770921333

4 SubmittersRCV000889980 RCV001818658 RCV005047143 RCV005268803

NM_004560.4(ROR2):c.1716G>A (p.Ser572=)

SNV
Germline

Chr9:91724778

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120598

rs_139654946

2 SubmittersRCV000902740 RCV001169181 RCV001169180

NM_004560.4(ROR2):c.777G>T (p.Leu259=)

SNV
Germline

Chr9:91733282

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120894

rs_770068276

2 SubmittersRCV000911996 RCV005047147

NM_004560.4(ROR2):c.*106C>T

SNV
Germline

Chr9:91723556

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA195321015

rs_531108921

1 SubmittersRCV001169056 RCV001169055

NM_004560.4(ROR2):c.2382G>A (p.Pro794=)

SNV
Germline

Chr9:91724112

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120409

rs_532042443

2 SubmittersRCV001168383 RCV001168384 RCV001399464

NM_004560.4(ROR2):c.2034C>T (p.Tyr678=)

SNV
Germline

Chr9:91724460

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120504

rs_199681534

2 SubmittersRCV001166714 RCV001166715 RCV001436466

NM_004560.4(ROR2):c.1995G>C (p.Met665Ile)

SNV
Germline

Chr9:91724499

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120515

rs_763115397

1 SubmittersRCV001166716 RCV001166717

NM_004560.4(ROR2):c.1956G>A (p.Ser652=)

SNV
Germline

Chr9:91724538

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120522

rs_374939956

2 SubmittersRCV001168440 RCV001168441 RCV002559617

NM_004560.4(ROR2):c.1596A>G (p.Gln532=)

SNV
Germline

Chr9:91724898

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120638

rs_528393492

2 SubmittersRCV001166786 RCV001166787 RCV002067814

NM_004560.4(ROR2):c.1317G>A (p.Pro439=)

SNV
Germline

Chr9:91726610

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120728

rs_150661792

2 SubmittersRCV001169238 RCV001169239 RCV002068036

NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)

SNV
Germline

Chr9:91733299

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120900

rs_374492597

3 SubmittersRCV001169313 RCV001169314 RCV002067833 RCV005394779

NM_004560.4(ROR2):c.722C>A (p.Ala241Glu)

SNV
Germline

Chr9:91733337

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5120912

rs_771096772

3 SubmittersRCV001166902 RCV001166903 RCV001751297 RCV004960511

NM_004560.4(ROR2):c.155G>A (p.Gly52Asp)

SNV
Germline

Chr9:91775761

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5121120

rs_201425107

2 SubmittersRCV001169381 RCV001169382 RCV002068039

NM_004560.4(ROR2):c.146G>T (p.Gly49Val)

SNV
Germline

Chr9:91775770

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5121125

rs_201991252

1 SubmittersRCV001166439 RCV001166440

NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)

SNV
Unknown

Chr9:91724279

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA5120453

rs_767802430

1 SubmittersRCV001353140

NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)

SNV
Germline

Chr9:91724420

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373796245

rs_2118616453

1 SubmittersRCV001353138

NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)

SNV
Unknown

Chr9:91724639

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373797301

rs_1489361512

1 SubmittersRCV001353136

NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)

SNV
Germline

Chr9:91724978

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373798352

rs_2118626297

1 SubmittersRCV001353135

NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)

SNV
Germline

Chr9:91726738

Pathogenic

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA373799828

rs_1308509155

5 SubmittersRCV001353124 RCV003314001 RCV003433099

NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)

SNV
Germline

Chr9:91730993

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373800040

rs_2118683614

1 SubmittersRCV001353123

NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)

SNV
Germline

Chr9:91730997

Likely pathogenic

Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Single Submitter

CA373800048

rs_2118683688

2 SubmittersRCV001353134 RCV002499451

NM_004560.4(ROR2):c.899G>T (p.Cys300Phe)

SNV
Unknown

Chr9:91733160

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373800691

rs_2118699409

1 SubmittersRCV001353132

NM_004560.4(ROR2):c.717C>A (p.Cys239Ter)

SNV
Unknown

Chr9:91733342

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373801228

rs_56302651

1 SubmittersRCV001353131

NM_004560.4(ROR2):c.623-11G>A

SNV
Germline

Chr9:91733447

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA653172855

rs_1350375399

4 SubmittersRCV001353129 RCV001732097

NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)

SNV
Germline

Chr9:91757487

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373840874

rs_1434209233

1 SubmittersRCV001353127

NM_004560.4(ROR2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:91949962

Pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA373841617

rs_2118126851

1 SubmittersRCV001353121

NM_004560.4(ROR2):c.1746G>A (p.Thr582=)

SNV
Germline

Chr9:91724748

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120583

rs_201241207

2 SubmittersRCV001304048 RCV002493595

NM_004560.4(ROR2):c.175+1G>A

SNV
Germline

Chr9:91775740

Likely pathogenic

Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA5121113

rs_753069829

2 SubmittersRCV001377292 RCV002499774

NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys)

SNV
Germline

Chr9:91731143

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA195331575

rs_756479236

1 SubmittersRCV001391176

NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)

SNV
Germline

Chr9:91723796

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120330

rs_202213533

3 SubmittersRCV001488912 RCV005040290

NM_004560.4(ROR2):c.1969C>T (p.Arg657Cys)

SNV
Germline

Chr9:91724525

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome
ROR2-related disorder

Criteria Provided
Conflicting Classifications

CA5120517

rs_753875871

3 SubmittersRCV001546462 RCV005040315 RCV004734227

NM_004560.4(ROR2):c.768C>T (p.Cys256=)

SNV
Germline

Chr9:91733291

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120897

rs_772113008

2 SubmittersRCV002484529 RCV001951967

NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)

SNV
Germline

Chr9:91724912

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA373798056

rs_1448877786

3 SubmittersRCV001942300 RCV003444965 RCV005050482

NM_004560.4(ROR2):c.1703G>A (p.Arg568His)

SNV
Germline

Chr9:91724791

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120603

rs_755191901

2 SubmittersRCV002120040 RCV005042729

NM_004560.4(ROR2):c.1087G>A (p.Ala363Thr)

SNV
Germline

Chr9:91731006

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120802

rs_200192277

3 SubmittersRCV002097722 RCV004045782 RCV005050537

NM_004560.4(ROR2):c.1480G>A (p.Gly494Ser)

SNV
Germline

Chr9:91725014

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Conflicting Classifications

CA5120674

rs_138310082

3 SubmittersRCV002089373 RCV005433613 RCV005042709

NM_004560.4(ROR2):c.1184-1G>T

SNV
Germline

Chr9:91726744

Pathogenic

Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

CA373799842

rs_2118645585

1 SubmittersRCV002226817

NM_004560.4(ROR2):c.154G>A (p.Gly52Ser)

SNV
Germline

Chr9:91775762

Conflicting classifications of pathogenicity

Inborn genetic diseases
Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5121121

rs_781040501

3 SubmittersRCV004070301 RCV005045217 RCV003076738

NM_004560.4(ROR2):c.2353C>T (p.Arg785Cys)

SNV
Germline

Chr9:91724141

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120416

rs_547359309

2 SubmittersRCV003121328 RCV005047415

NM_004560.4(ROR2):c.1856G>A (p.Arg619His)

SNV
Germline

Chr9:91724638

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5120547

rs_779165681

2 SubmittersRCV002790049 RCV003269526

NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)

SNV
Germline

Chr9:91733419

Likely pathogenic

Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

CA373801523

rs_1336789467

1 SubmittersRCV002790050

NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)

SNV
Germline

Chr9:91733205

Likely pathogenic

Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

CA5120874

rs_768848657

1 SubmittersRCV003228722

NM_004560.4(ROR2):c.2018C>G (p.Ser673Ter)

SNV
Germline

Chr9:91724476

Likely pathogenic

Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Single Submitter

1 SubmittersRCV005049212

NM_004560.4(ROR2):c.799G>T (p.Glu267Ter)

SNV
Germline

Chr9:91733260

Likely pathogenic

Autosomal recessive Robinow syndrome
Brachydactyly type B1

Criteria Provided
Single Submitter

1 SubmittersRCV005048721