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	Pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided	CA254144	rs_121909084	1 SubmittersRCV000007731
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118710	rs_267607016	6 SubmittersRCV000007742 RCV000761457 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	Criteria Provided Conflicting Classifications	CA173318	rs_529829552	3 SubmittersRCV000147384 RCV000171424 RCV001353137
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.730C>T (p.Arg244Trp)	SNV Germline	Chr9:91733329	Conflicting classifications of pathogenicity	not specified Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications	CA246689	rs_148340413	5 SubmittersRCV000179445 RCV000779586 RCV001166901 RCV001511051
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	4 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.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 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5120972	rs_34574788	4 SubmittersRCV000271810 RCV000329348 RCV000337531
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	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided ROR2-related disorder	Criteria Provided Conflicting Classifications	CA5120670	rs_146347005	3 SubmittersRCV000296550 RCV000349239 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	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120732	rs_149842671	3 SubmittersRCV000360660 RCV000308020 RCV002058818 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	Criteria Provided Conflicting Classifications	CA5120455	rs_56231927	4 SubmittersRCV000276157 RCV000314957 RCV001310262 RCV004530491 RCV002523819
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.1583G>A (p.Arg528Gln)	SNV Germline	Chr9:91724911	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5120642	rs_142215888	5 SubmittersRCV000597656 RCV001168500 RCV001168499 RCV002532489
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)	SNV Germline	Chr9:91724255	Conflicting classifications of pathogenicity	Condition: not provided ROR2-related disorder Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications		rs_374646337	4 SubmittersRCV000657780 RCV000779585 RCV002226720
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)	SNV Germline	Chr9:91757412	Likely pathogenic	Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter		rs_1587690611	2 SubmittersRCV000855449
NM_004560.4(ROR2):c.1716G>A (p.Ser572=)	SNV Germline	Chr9:91724778	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications		rs_139654946	2 SubmittersRCV000902740 RCV001169180 RCV001169181
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		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		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		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		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		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		rs_528393492	2 SubmittersRCV001166786 RCV001166787 RCV002067814
NM_004560.4(ROR2):c.1317G>A (p.Pro439=)	SNV Germline	Chr9:91726610	Conflicting classifications of pathogenicity	Brachydactyly type B1 Autosomal recessive Robinow syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_150661792	2 SubmittersRCV001169239 RCV001169238 RCV002068036
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)	SNV Germline	Chr9:91733299	Conflicting classifications of pathogenicity	Autosomal recessive Robinow syndrome Brachydactyly type B1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_374492597	2 SubmittersRCV001169314 RCV001169313 RCV002067833
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	Criteria Provided Conflicting Classifications		rs_771096772	2 SubmittersRCV001166902 RCV001166903 RCV001751297
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		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		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		rs_767802430	1 SubmittersRCV001353140
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)	SNV Germline	Chr9:91724287	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided		rs_980417569	1 SubmittersRCV001353139
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)	SNV Germline	Chr9:91724420	Likely pathogenic	Autosomal recessive Robinow syndrome	No Assertion Criteria Provided		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		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		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		rs_1308509155	4 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		rs_2118683614	1 SubmittersRCV001353123
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)	SNV Germline	Chr9:91730997	Likely pathogenic	Autosomal recessive Robinow syndrome Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter		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		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		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		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		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		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		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		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		rs_756479236	1 SubmittersRCV001391176
NM_004560.4(ROR2):c.768C>T (p.Cys256=)	SNV Germline	Chr9:91733291	Conflicting classifications of pathogenicity	Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications		rs_772113008	2 SubmittersRCV001951967 RCV002484529
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)	SNV Germline	Chr9:91724912	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive Robinow syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1448877786	2 SubmittersRCV001942300 RCV003444965
NM_004560.4(ROR2):c.1184-1G>T	SNV Germline	Chr9:91726744	Pathogenic	Autosomal recessive Robinow syndrome	Criteria Provided Single Submitter		rs_2118645585	1 SubmittersRCV002226817
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			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			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			1 SubmittersRCV003228722

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

Pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

CA254144

rs_121909084

1 SubmittersRCV000007731

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118710

rs_267607016

6 SubmittersRCV000007742 RCV000761457 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

Criteria Provided
Conflicting Classifications

CA173318

rs_529829552

3 SubmittersRCV000147384 RCV000171424 RCV001353137

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.730C>T (p.Arg244Trp)

SNV
Germline

Chr9:91733329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246689

rs_148340413

5 SubmittersRCV000179445 RCV000779586 RCV001166901 RCV001511051

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

4 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.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
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5120972

rs_34574788

4 SubmittersRCV000271810 RCV000329348 RCV000337531

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

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

Criteria Provided
Conflicting Classifications

CA5120670

rs_146347005

3 SubmittersRCV000296550 RCV000349239 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

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

Criteria Provided
Conflicting Classifications

CA5120732

rs_149842671

3 SubmittersRCV000360660 RCV000308020 RCV002058818 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

Criteria Provided
Conflicting Classifications

CA5120455

rs_56231927

4 SubmittersRCV000276157 RCV000314957 RCV001310262 RCV004530491 RCV002523819

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.1583G>A (p.Arg528Gln)

SNV
Germline

Chr9:91724911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5120642

rs_142215888

5 SubmittersRCV000597656 RCV001168500 RCV001168499 RCV002532489

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

SNV
Germline

Chr9:91724255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374646337

4 SubmittersRCV000657780 RCV000779585 RCV002226720

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

SNV
Germline

Chr9:91757412

Likely pathogenic

Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

rs_1587690611

2 SubmittersRCV000855449

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

SNV
Germline

Chr9:91724778

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

rs_139654946

2 SubmittersRCV000902740 RCV001169180 RCV001169181

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

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

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

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

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

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

rs_528393492

2 SubmittersRCV001166786 RCV001166787 RCV002067814

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

SNV
Germline

Chr9:91726610

Conflicting classifications of pathogenicity

Brachydactyly type B1
Autosomal recessive Robinow syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150661792

2 SubmittersRCV001169239 RCV001169238 RCV002068036

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

SNV
Germline

Chr9:91733299

Conflicting classifications of pathogenicity

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374492597

2 SubmittersRCV001169314 RCV001169313 RCV002067833

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

Criteria Provided
Conflicting Classifications

rs_771096772

2 SubmittersRCV001166902 RCV001166903 RCV001751297

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

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

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

rs_767802430

1 SubmittersRCV001353140

NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)

SNV
Germline

Chr9:91724287

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

rs_980417569

1 SubmittersRCV001353139

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

SNV
Germline

Chr9:91724420

Likely pathogenic

Autosomal recessive Robinow syndrome

No Assertion Criteria Provided

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

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

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

rs_1308509155

4 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

rs_2118683614

1 SubmittersRCV001353123

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

SNV
Germline

Chr9:91730997

Likely pathogenic

Autosomal recessive Robinow syndrome
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

rs_756479236

1 SubmittersRCV001391176

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

SNV
Germline

Chr9:91733291

Conflicting classifications of pathogenicity

Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

rs_772113008

2 SubmittersRCV001951967 RCV002484529

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

SNV
Germline

Chr9:91724912

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Robinow syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1448877786

2 SubmittersRCV001942300 RCV003444965

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

SNV
Germline

Chr9:91726744

Pathogenic

Autosomal recessive Robinow syndrome

Criteria Provided
Single Submitter

rs_2118645585

1 SubmittersRCV002226817

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

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

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

1 SubmittersRCV003228722