ClinVar for MedGen (Select 1770070) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023031.	NM_004560.4(ROR2):c.854A>G (p.Lys285Arg) GRCh37: Chr9:94495487 GRCh38: Chr9:91733205	ROR2	K285R	Autosomal recessive Robinow syndrome	Likely pathogenic	criteria provided, single submitter
Select item 24467222.	NM_004560.4(ROR2):c.1133T>C (p.Phe378Ser) GRCh37: Chr9:94493242 GRCh38: Chr9:91730960	ROR2	F378S	Autosomal recessive Robinow syndrome	Uncertain significance (Mar 21, 2023)	criteria provided, single submitter
Select item 24127923.	NM_004560.4(ROR2):c.640G>C (p.Gly214Arg) GRCh37: Chr9:94495701 GRCh38: Chr9:91733419	ROR2	G214R	Autosomal recessive Robinow syndrome	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 24127914.	NM_004560.4(ROR2):c.1856G>A (p.Arg619His) GRCh37: Chr9:94486920 GRCh38: Chr9:91724638	ROR2	R619H	Autosomal recessive Robinow syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 23, 2023)	criteria provided, conflicting interpretations
Select item 16836215.	NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr) GRCh37: Chr9:94486762 GRCh38: Chr9:91724480	ROR2	D672Y	not provided, Autosomal recessive Robinow syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16792206.	NM_004560.4(ROR2):c.1184-1G>T GRCh37: Chr9:94489026 GRCh38: Chr9:91726744	ROR2		Autosomal recessive Robinow syndrome	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 16405487.	NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) GRCh37: Chr9:94486778 GRCh38: Chr9:91724496	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16367118.	NM_004560.4(ROR2):c.2478G>A (p.Pro826=) GRCh37: Chr9:94486298 GRCh38: Chr9:91724016	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16007179.	NM_004560.4(ROR2):c.937+16C>T GRCh37: Chr9:94495388 GRCh38: Chr9:91733106	ROR2		Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159537410.	NM_004560.4(ROR2):c.2604C>T (p.Ser868=) GRCh37: Chr9:94486172 GRCh38: Chr9:91723890	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159465411.	NM_004560.4(ROR2):c.485A>G (p.His162Arg) GRCh37: Chr9:94518362 GRCh38: Chr9:91756080	ROR2	H162R	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Benign/Likely benign (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 157064012.	NM_004560.4(ROR2):c.494+17C>T GRCh37: Chr9:94518336 GRCh38: Chr9:91756054	ROR2		Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156101813.	NM_004560.4(ROR2):c.175+17A>G GRCh37: Chr9:94538006 GRCh38: Chr9:91775724	ROR2		Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154889514.	NM_004560.4(ROR2):c.954C>T (p.Asn318=) GRCh37: Chr9:94493421 GRCh38: Chr9:91731139	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154115415.	NM_004560.4(ROR2):c.2724C>T (p.Thr908=) GRCh37: Chr9:94486052 GRCh38: Chr9:91723770	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151323116.	NM_004560.4(ROR2):c.888C>T (p.Asp296=) GRCh37: Chr9:94495453 GRCh38: Chr9:91733171	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151290717.	NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn) GRCh37: Chr9:94487274 GRCh38: Chr9:91724992	ROR2	T501N	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome, Inborn genetic diseases	Uncertain significance (Jan 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150356418.	NM_004560.4(ROR2):c.2782G>C (p.Asp928His) GRCh37: Chr9:94485994 GRCh38: Chr9:91723712	ROR2	D928H	Inborn genetic diseases, Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150168019.	NM_004560.4(ROR2):c.334C>T (p.Arg112Trp) GRCh37: Chr9:94519683 GRCh38: Chr9:91757401	ROR2	R112W	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome, Inborn genetic diseases	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148519920.	NM_004560.4(ROR2):c.457C>T (p.Arg153Trp) GRCh37: Chr9:94519560 GRCh38: Chr9:91757278	ROR2	R153W	Inborn genetic diseases, Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148278021.	NM_004560.4(ROR2):c.281G>A (p.Arg94Gln) GRCh37: Chr9:94519736 GRCh38: Chr9:91757454	ROR2	R94Q	Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146330622.	NM_004560.4(ROR2):c.1799C>T (p.Ala600Val) GRCh37: Chr9:94486977 GRCh38: Chr9:91724695	ROR2	A600V	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146055023.	NM_004560.4(ROR2):c.2442G>A (p.Pro814=) GRCh37: Chr9:94486334 GRCh38: Chr9:91724052	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145530124.	NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) GRCh37: Chr9:94487194 GRCh38: Chr9:91724912	ROR2	R528*	not provided, Autosomal recessive Robinow syndrome	Pathogenic/Likely pathogenic (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144992025.	NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn) GRCh37: Chr9:94487044 GRCh38: Chr9:91724762	ROR2	D578N	Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144667626.	NM_004560.4(ROR2):c.1240A>G (p.Ile414Val) GRCh37: Chr9:94488969 GRCh38: Chr9:91726687	ROR2	I414V	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143617527.	NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln) GRCh37: Chr9:94487223 GRCh38: Chr9:91724941	ROR2	R518Q	Autosomal recessive Robinow syndrome, Brachydactyly type B1, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143470328.	NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln) GRCh37: Chr9:94487377 GRCh38: Chr9:91725095	ROR2	E467Q	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143468429.	NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys) GRCh37: Chr9:94486779 GRCh38: Chr9:91724497	ROR2	Y666C	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141815530.	NM_004560.4(ROR2):c.768C>T (p.Cys256=) GRCh37: Chr9:94495573 GRCh38: Chr9:91733291	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 140788631.	NM_004560.4(ROR2):c.1624G>A (p.Val542Met) GRCh37: Chr9:94487152 GRCh38: Chr9:91724870	ROR2	V542M	Autosomal recessive Robinow syndrome, Brachydactyly type B1, not provided	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140308432.	NM_004560.4(ROR2):c.1601C>A (p.Pro534His) GRCh37: Chr9:94487175 GRCh38: Chr9:91724893	ROR2	P534H	Inborn genetic diseases, Autosomal recessive Robinow syndrome, Brachydactyly type B1, not provided	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140219233.	NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln) GRCh37: Chr9:94486863 GRCh38: Chr9:91724581	ROR2	R638Q	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139957534.	NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn) GRCh37: Chr9:94487005 GRCh38: Chr9:91724723	ROR2	D591N	Autosomal recessive Robinow syndrome, Brachydactyly type B1, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138272735.	NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys) GRCh37: Chr9:94487137 GRCh38: Chr9:91724855	ROR2	Q547K	Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137762936.	NM_004560.4(ROR2):c.175+3G>T GRCh37: Chr9:94538020 GRCh38: Chr9:91775738	ROR2		Inborn genetic diseases, not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137227237.	NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu) GRCh37: Chr9:94486255 GRCh38: Chr9:91723973	ROR2	Q841E	Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133662738.	NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys) GRCh37: Chr9:94487089 GRCh38: Chr9:91724807	ROR2	E563K	not specified, not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130166939.	NM_004560.4(ROR2):c.362G>A (p.Arg121Gln) GRCh37: Chr9:94519655 GRCh38: Chr9:91757373	ROR2	R121Q	Autosomal recessive Robinow syndrome	Uncertain significance (Mar 25, 2020)	criteria provided, single submitter
Select item 118882640.	NM_004560.4(ROR2):c.1353_1360del (p.Met452fs) GRCh37: Chr9:94488849-94488856 GRCh38: Chr9:91726567-91726574	ROR2	M452fs	Autosomal recessive Robinow syndrome	Pathogenic (Aug 4, 2021)	no assertion criteria provided
Select item 114170941.	NM_004560.4(ROR2):c.1104C>T (p.Pro368=) GRCh37: Chr9:94493271 GRCh38: Chr9:91730989	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Dec 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113071542.	NM_004560.4(ROR2):c.1605C>T (p.Asn535=) GRCh37: Chr9:94487171 GRCh38: Chr9:91724889	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110365243.	NM_004560.4(ROR2):c.97+7T>C GRCh37: Chr9:94712142 GRCh38: Chr9:91949860	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely benign (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107706944.	NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) GRCh37: Chr9:94493425 GRCh38: Chr9:91731143	ROR2	Y317C	Autosomal recessive Robinow syndrome	Likely pathogenic (Dec 29, 2020)	no assertion criteria provided
Select item 106632545.	NM_004560.4(ROR2):c.175+1G>A GRCh37: Chr9:94538022 GRCh38: Chr9:91775740	ROR2		not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106215446.	NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala) GRCh37: Chr9:94487146 GRCh38: Chr9:91724864	ROR2	T544A	Inborn genetic diseases, not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105936847.	NM_004560.4(ROR2):c.2354G>A (p.Arg785His) GRCh37: Chr9:94486422 GRCh38: Chr9:91724140	ROR2	R785H	Inborn genetic diseases, not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105668448.	NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn) GRCh37: Chr9:94486903 GRCh38: Chr9:91724621	ROR2	D625N	Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105343249.	NM_004560.4(ROR2):c.533G>A (p.Arg178Gln) GRCh37: Chr9:94499762 GRCh38: Chr9:91737480	ROR2	R178Q	not provided, Inborn genetic diseases, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101228150.	NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) GRCh37: Chr9:94486762 GRCh38: Chr9:91724480	ROR2	D672N	Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 101227951.	NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) GRCh37: Chr9:94495572 GRCh38: Chr9:91733290	ROR2	E257K	Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101227852.	NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) GRCh37: Chr9:94519715 GRCh38: Chr9:91757433	ROR2	P101L	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100692853.	NM_004560.4(ROR2):c.1746G>A (p.Thr582=) GRCh37: Chr9:94487030 GRCh38: Chr9:91724748	ROR2		Brachydactyly type B1, Autosomal recessive Robinow syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 100212854.	NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp) GRCh37: Chr9:94486570 GRCh38: Chr9:91724288	ROR2	R736W	Inborn genetic diseases, not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98498255.	NM_004560.4(ROR2):c.990del (p.Thr331fs) GRCh37: Chr9:94493385 GRCh38: Chr9:91731103	ROR2	T331fs	Autosomal recessive Robinow syndrome	Pathogenic (Feb 20, 2020)	criteria provided, single submitter
Select item 98346956.	NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) GRCh37: Chr9:94486561 GRCh38: Chr9:91724279	ROR2	F739L	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346857.	NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) GRCh37: Chr9:94486569 GRCh38: Chr9:91724287	ROR2	R736Q	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346758.	NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) GRCh37: Chr9:94486702 GRCh38: Chr9:91724420	ROR2	P692T	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346659.	NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) GRCh37: Chr9:94486921 GRCh38: Chr9:91724639	ROR2	R619S	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346560.	NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) GRCh37: Chr9:94487260 GRCh38: Chr9:91724978	ROR2	I506F	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346461.	NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) GRCh37: Chr9:94493279 GRCh38: Chr9:91730997	ROR2	R366W	Brachydactyly type B1, Autosomal recessive Robinow syndrome	Likely pathogenic (Jul 29, 2021)	criteria provided, single submitter
Select item 98346362.	NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) GRCh37: Chr9:94495442 GRCh38: Chr9:91733160	ROR2	C300F	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346263.	NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) GRCh37: Chr9:94495624 GRCh38: Chr9:91733342	ROR2	C239*	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98346164.	NM_004560.4(ROR2):c.675del (p.Gln225fs) GRCh37: Chr9:94495666 GRCh38: Chr9:91733384	ROR2	Q225fs	Autosomal recessive Robinow syndrome	Pathogenic	no assertion criteria provided
Select item 98346065.	NM_004560.4(ROR2):c.623-11G>A GRCh37: Chr9:94495729 GRCh38: Chr9:91733447	ROR2		not provided, Autosomal recessive Robinow syndrome	Conflicting interpretations of pathogenicity (Jul 9, 2022)	criteria provided, conflicting interpretations
Select item 98345966.	GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1 GRCh37: Chr9:94495669-94519586	ROR2		Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98345867.	NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) GRCh37: Chr9:94519769 GRCh38: Chr9:91757487	ROR2	C83Y	Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98345768.	NM_004560.4(ROR2):c.79_80del (p.Ser29fs) GRCh37: Chr9:94712166-94712167 GRCh38: Chr9:91949884-91949885	ROR2	S29fs	Autosomal recessive Robinow syndrome	Pathogenic	no assertion criteria provided
Select item 98345669.	GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1 GRCh37: Chr9:94381136-94851388	ROR2, SPTLC1		Autosomal recessive Robinow syndrome	Likely pathogenic	no assertion criteria provided
Select item 98345570.	NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) GRCh37: Chr9:94489020 GRCh38: Chr9:91726738	ROR2	R397*	not provided, Brachydactyly type B1	Pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98345471.	NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) GRCh37: Chr9:94493275 GRCh38: Chr9:91730993	ROR2	N367I	Autosomal recessive Robinow syndrome	Likely pathogenic (Apr 2, 2020)	no assertion criteria provided
Select item 98345372.	NM_004560.4(ROR2):c.494+4_494+7del GRCh37: Chr9:94518346-94518349 GRCh38: Chr9:91756064-91756067	ROR2		Autosomal recessive Robinow syndrome	Likely pathogenic (Feb 12, 2018)	no assertion criteria provided
Select item 98345273.	NM_004560.4(ROR2):c.2T>G (p.Met1Arg) GRCh37: Chr9:94712244 GRCh38: Chr9:91949962	ROR2	M1R	Autosomal recessive Robinow syndrome	Pathogenic (Nov 15, 2019)	no assertion criteria provided
Select item 97664074.	NM_004560.4(ROR2):c.*433C>T GRCh37: Chr9:94485511 GRCh38: Chr9:91723229	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91496775.	NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) GRCh37: Chr9:94538043 GRCh38: Chr9:91775761	ROR2	G52D	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Jul 22, 2021)	criteria provided, conflicting interpretations
Select item 91496676.	NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser) GRCh37: Chr9:94519838 GRCh38: Chr9:91757556	ROR2	Y60S	Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91491977.	NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) GRCh37: Chr9:94495581 GRCh38: Chr9:91733299	ROR2	D254N	not provided, Brachydactyly type B1, Autosomal recessive Robinow syndrome	Conflicting interpretations of pathogenicity (Nov 26, 2021)	criteria provided, conflicting interpretations
Select item 91491878.	NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) GRCh37: Chr9:94495455 GRCh38: Chr9:91733173	ROR2	D296N	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91486779.	NM_004560.4(ROR2):c.1317G>A (p.Pro439=) GRCh37: Chr9:94488892 GRCh38: Chr9:91726610	ROR2	R428H	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 91486680.	NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg) GRCh37: Chr9:94488862 GRCh38: Chr9:91726580	ROR2	S449R	Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91479481.	NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser) GRCh37: Chr9:94486534 GRCh38: Chr9:91724252	ROR2	A748S	Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 91473982.	NM_004560.4(ROR2):c.*38G>A GRCh37: Chr9:94485906 GRCh38: Chr9:91723624	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91473883.	NM_004560.4(ROR2):c.*46C>T GRCh37: Chr9:94485898 GRCh38: Chr9:91723616	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91473784.	NM_004560.4(ROR2):c.*106C>T GRCh37: Chr9:94485838 GRCh38: Chr9:91723556	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 91469585.	NM_004560.4(ROR2):c.*553G>A GRCh37: Chr9:94485391 GRCh38: Chr9:91723109	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91469486.	NM_004560.4(ROR2):c.*571G>C GRCh37: Chr9:94485373 GRCh38: Chr9:91723091	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91449987.	NM_004560.4(ROR2):c.-118C>T GRCh37: Chr9:94712363 GRCh38: Chr9:91950081	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91440788.	NM_004560.4(ROR2):c.938-15G>A GRCh37: Chr9:94493452 GRCh38: Chr9:91731170	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91436989.	NM_004560.4(ROR2):c.1566G>T (p.Arg522=) GRCh37: Chr9:94487210 GRCh38: Chr9:91724928	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91433190.	NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) GRCh37: Chr9:94486906 GRCh38: Chr9:91724624	ROR2	Y624N	Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91433091.	NM_004560.4(ROR2):c.1956G>A (p.Ser652=) GRCh37: Chr9:94486820 GRCh38: Chr9:91724538	ROR2		not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 91429192.	NM_004560.4(ROR2):c.2382G>A (p.Pro794=) GRCh37: Chr9:94486394 GRCh38: Chr9:91724112	ROR2		not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 91424893.	NM_004560.4(ROR2):c.*107G>C GRCh37: Chr9:94485837 GRCh38: Chr9:91723555	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91424794.	NM_004560.4(ROR2):c.*125C>A GRCh37: Chr9:94485819 GRCh38: Chr9:91723537	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91338195.	NM_004560.4(ROR2):c.-90A>G GRCh37: Chr9:94712335 GRCh38: Chr9:91950053	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91338096.	NM_004560.4(ROR2):c.-66G>T GRCh37: Chr9:94712311 GRCh38: Chr9:91950029	ROR2		Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91333397.	NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) GRCh37: Chr9:94495619 GRCh38: Chr9:91733337	ROR2	A241E	not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Sep 25, 2019)	criteria provided, conflicting interpretations
Select item 91329398.	NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) GRCh37: Chr9:94493386 GRCh38: Chr9:91731104	ROR2	T330I	Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91329299.	NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) GRCh37: Chr9:94493272 GRCh38: Chr9:91730990	ROR2	P368R	Autosomal recessive Robinow syndrome, Brachydactyly type B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 913252100.	NM_004560.4(ROR2):c.1596A>G (p.Gln532=) GRCh37: Chr9:94487180 GRCh38: Chr9:91724898	ROR2		not provided, Autosomal recessive Robinow syndrome, Brachydactyly type B1	Conflicting interpretations of pathogenicity (Jan 19, 2022)	criteria provided, conflicting interpretations

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