ClinVar for MedGen (Select 1770070) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068414	NM_004560.4(ROR2):c.1086C>G (p.His362Gln)	ROR2 (H362Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GUncertain significance
Select item 2502303	NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)	ROR2 (K285R)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 2446722	NM_004560.4(ROR2):c.1133T>C (p.Phe378Ser)	ROR2 (F378S)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GUncertain significance
Select item 2412792	NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)	ROR2 (G214R)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 2412791	NM_004560.4(ROR2):c.1856G>A (p.Arg619His)	ROR2 (R619H)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1683621	NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr)	ROR2 (D672Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679220	NM_004560.4(ROR2):c.1184-1G>T	ROR2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 1640548	NM_004560.4(ROR2):c.1998C>T (p.Tyr666=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 1636711	NM_004560.4(ROR2):c.2478G>A (p.Pro826=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1600717	NM_004560.4(ROR2):c.937+16C>T	ROR2	Single nucleotide variant (intron variant)	Autosomal recessive Robinow syndrome +2 more	GBenign
Select item 1595374	NM_004560.4(ROR2):c.2604C>T (p.Ser868=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1594654	NM_004560.4(ROR2):c.485A>G (p.His162Arg)	ROR2 (H162R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1570640	NM_004560.4(ROR2):c.494+17C>T	ROR2	Single nucleotide variant (intron variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 1561018	NM_004560.4(ROR2):c.175+17A>G	ROR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1548895	NM_004560.4(ROR2):c.954C>T (p.Asn318=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1541154	NM_004560.4(ROR2):c.2724C>T (p.Thr908=)	ROR2	Single nucleotide variant (synonymous variant)	Autosomal recessive Robinow syndrome +2 more	GLikely benign
Select item 1513231	NM_004560.4(ROR2):c.888C>T (p.Asp296=)	ROR2	Single nucleotide variant (synonymous variant)	ROR2-related condition +3 more	GLikely benign
Select item 1512907	NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn)	ROR2 (T501N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1503564	NM_004560.4(ROR2):c.2782G>C (p.Asp928His)	ROR2 (D928H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1501680	NM_004560.4(ROR2):c.334C>T (p.Arg112Trp)	ROR2 (R112W)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GUncertain significance
Select item 1485199	NM_004560.4(ROR2):c.457C>T (p.Arg153Trp)	ROR2 (R153W)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 1482780	NM_004560.4(ROR2):c.281G>A (p.Arg94Gln)	ROR2 (R94Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1463306	NM_004560.4(ROR2):c.1799C>T (p.Ala600Val)	ROR2 (A600V)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1460550	NM_004560.4(ROR2):c.2442G>A (p.Pro814=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1455301	NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)	ROR2 (R528*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1449920	NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn)	ROR2 (D578N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1446676	NM_004560.4(ROR2):c.1240A>G (p.Ile414Val)	ROR2 (I414V)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1436175	NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln)	ROR2 (R518Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1434703	NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln)	ROR2 (E467Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1434684	NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys)	ROR2 (Y666C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1418155	NM_004560.4(ROR2):c.768C>T (p.Cys256=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GConflicting classifications of pathogenicity
Select item 1407886	NM_004560.4(ROR2):c.1624G>A (p.Val542Met)	ROR2 (V542M)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1403084	NM_004560.4(ROR2):c.1601C>A (p.Pro534His)	ROR2 (P534H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1402192	NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln)	ROR2 (R638Q)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GUncertain significance
Select item 1399575	NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn)	ROR2 (D591N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1382727	NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys)	ROR2 (Q547K)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 1377629	NM_004560.4(ROR2):c.175+3G>T	ROR2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1372272	NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu)	ROR2 (Q841E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1336627	NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys)	ROR2 (E563K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1301669	NM_004560.4(ROR2):c.362G>A (p.Arg121Gln)	ROR2 (R121Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GUncertain significance
Select item 1188826	NM_004560.4(ROR2):c.1353_1360del (p.Met452fs)	ROR2 (M452fs)	Deletion (3 prime UTR variant +1 more)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 1141709	NM_004560.4(ROR2):c.1104C>T (p.Pro368=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1130715	NM_004560.4(ROR2):c.1605C>T (p.Asn535=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1103652	NM_004560.4(ROR2):c.97+7T>C	ROR2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1077069	NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys)	ROR2 (Y317C)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 1066325	NM_004560.4(ROR2):c.175+1G>A	ROR2	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1062154	NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala)	ROR2 (T544A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1059368	NM_004560.4(ROR2):c.2354G>A (p.Arg785His)	ROR2 (R785H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1056684	NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn)	ROR2 (D625N)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GUncertain significance
Select item 1053432	NM_004560.4(ROR2):c.533G>A (p.Arg178Gln)	ROR2 (R178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1012281	NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn)	ROR2 (D672N)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GUncertain significance
Select item 1012279	NM_004560.4(ROR2):c.769G>A (p.Glu257Lys)	ROR2 (E257K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1012278	NM_004560.4(ROR2):c.302C>T (p.Pro101Leu)	ROR2 (P101L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1006928	NM_004560.4(ROR2):c.1746G>A (p.Thr582=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GConflicting classifications of pathogenicity
Select item 1002128	NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp)	ROR2 (R736W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 984982	NM_004560.4(ROR2):c.990del (p.Thr331fs)	ROR2 (T331fs)	Deletion (frameshift variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983469	NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)	ROR2 (F739L)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983468	NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)	ROR2 (R736Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983467	NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)	ROR2 (P692T)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983466	NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)	ROR2 (R619S)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983465	NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)	ROR2 (I506F)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983464	NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)	ROR2 (R366W)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +1 more	GLikely pathogenic
Select item 983463	NM_004560.4(ROR2):c.899G>T (p.Cys300Phe)	ROR2 (C300F)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983462	NM_004560.4(ROR2):c.717C>A (p.Cys239Ter)	ROR2 (C239*)	Single nucleotide variant (nonsense)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983461	NM_004560.4(ROR2):c.675del (p.Gln225fs)	ROR2 (Q225fs)	Deletion (frameshift variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983460	NM_004560.4(ROR2):c.623-11G>A	ROR2	Single nucleotide variant (intron variant)	Autosomal recessive Robinow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 983459	GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1	ROR2	Copy number loss	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983458	NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)	ROR2 (C83Y)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983457	NM_004560.4(ROR2):c.79_80del (p.Ser29fs)	ROR2 (S29fs)	Microsatellite (frameshift variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983456	GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1	ROR2, SPTLC1	Copy number loss	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983455	NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)	ROR2 (R397*)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic
Select item 983454	NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)	ROR2 (N367I)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983453	NM_004560.4(ROR2):c.494+4_494+7del	ROR2	Microsatellite (splice donor variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983452	NM_004560.4(ROR2):c.2T>G (p.Met1Arg)	ROR2 (M1R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 976640	NM_004560.4(ROR2):c.*433C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914967	NM_004560.4(ROR2):c.155G>A (p.Gly52Asp)	ROR2 (G52D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914966	NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser)	ROR2 (Y60S)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914919	NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)	ROR2 (D254N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914918	NM_004560.4(ROR2):c.886G>A (p.Asp296Asn)	ROR2 (D296N)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 914867	NM_004560.4(ROR2):c.1317G>A (p.Pro439=)	ROR2 (R428H)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914866	NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg)	ROR2 (S449R)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914794	NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser)	ROR2 (A748S)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914739	NM_004560.4(ROR2):c.*38G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914738	NM_004560.4(ROR2):c.*46C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914737	NM_004560.4(ROR2):c.*106C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 914695	NM_004560.4(ROR2):c.*553G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914694	NM_004560.4(ROR2):c.*571G>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914499	NM_004560.4(ROR2):c.-118C>T	ROR2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914407	NM_004560.4(ROR2):c.938-15G>A	ROR2	Single nucleotide variant (intron variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914369	NM_004560.4(ROR2):c.1566G>T (p.Arg522=)	ROR2	Single nucleotide variant (synonymous variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914331	NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn)	ROR2 (Y624N)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914330	NM_004560.4(ROR2):c.1956G>A (p.Ser652=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914291	NM_004560.4(ROR2):c.2382G>A (p.Pro794=)	ROR2	Single nucleotide variant (synonymous variant)	Autosomal recessive Robinow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 914248	NM_004560.4(ROR2):c.*107G>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 914247	NM_004560.4(ROR2):c.*125C>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 913381	NM_004560.4(ROR2):c.-90A>G	ROR2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 913380	NM_004560.4(ROR2):c.-66G>T	ROR2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 913333	NM_004560.4(ROR2):c.722C>A (p.Ala241Glu)	ROR2 (A241E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913293	NM_004560.4(ROR2):c.989C>T (p.Thr330Ile)	ROR2 (T330I)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 913292	NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg)	ROR2 (P368R)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance

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