"GeneDx"[submitter] AND "ROR2"[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59119	GRCh38/hg38 9q22.31(chr9:91611565-91870931)x1	LOC124310584, LOC130002062 +4 more	Copy number loss	See cases	GPathogenic
Select item 367483	NM_004560.4(ROR2):c.*736A>G	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +2 more	GBenign/Likely benign
Select item 367484	NM_004560.4(ROR2):c.*712C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +2 more	GBenign
Select item 367490	NM_004560.4(ROR2):c.*245A>G	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +2 more	GBenign/Likely benign
Select item 367491	NM_004560.4(ROR2):c.*229C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +2 more	GBenign/Likely benign
Select item 367493	NM_004560.4(ROR2):c.*170AG[1]	ROR2	Microsatellite (3 prime UTR variant)	Brachydactyly +2 more	GBenign
Select item 199097	NM_004560.4(ROR2):c.*16G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +3 more	GBenign
Select item 159819	NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)	ROR2 (D935E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 287691	NM_004560.4(ROR2):c.2727G>A (p.Val909=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1148887	NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)	ROR2 (A900T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 287327	NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)	ROR2 (D895G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159818	NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)	ROR2 (V819I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 199096	NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)	ROR2 (P799S)	Single nucleotide variant (missense variant)	ROR2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1030817	NM_004560.4(ROR2):c.2305C>T (p.Gln769Ter)	ROR2 (Q769*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159817	NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)	ROR2 (S762L)	Single nucleotide variant (missense variant)	Brachydactyly, type B1Robinow syndrome, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 817563	NM_004560.4(ROR2):c.2264dup (p.Tyr755Ter)	ROR2 (Y755*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 7304	NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter)	ROR2 (Y755*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1314538	NM_004560.4(ROR2):c.2249G>A (p.Gly750Asp)	ROR2 (G750D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546024	NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)	ROR2 (R747*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159816	NM_004560.4(ROR2):c.2154C>T (p.Pro718=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 159815	NM_004560.4(ROR2):c.2088C>T (p.Tyr696=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 159814	NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg)	ROR2 (G695R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1187123	NM_004560.4(ROR2):c.1969C>T (p.Arg657Cys)	ROR2 (R657C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1305890	NM_004560.4(ROR2):c.1927G>A (p.Ala643Thr)	ROR2 (A643T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546195	NM_004560.4(ROR2):c.1868T>C (p.Val623Ala)	ROR2 (V623A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 281429	NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)	ROR2 (D579V)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GConflicting classifications of pathogenicity
Select item 159811	NM_004560.4(ROR2):c.1710G>A (p.Pro570=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 281495	NM_004560.4(ROR2):c.1686C>T (p.His562=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 596726	NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	ROR2 (G559S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 282760	NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)	ROR2 (S557L)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GConflicting classifications of pathogenicity
Select item 367502	NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser)	ROR2 (P548S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 284633	NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)	ROR2 (R530Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 499909	NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)	ROR2 (R528Q)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GConflicting classifications of pathogenicity
Select item 1270146	NM_004560.4(ROR2):c.1387-70G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205409	NM_004560.4(ROR2):c.1387-109dup	ROR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1205242	NM_004560.4(ROR2):c.1386+255C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239202	NM_004560.4(ROR2):c.1386+233T>C	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344983	NM_004560.4(ROR2):c.1386+85dup	ROR2	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1219435	NM_004560.4(ROR2):c.1386+40A>G	ROR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1214565	NM_004560.4(ROR2):c.1386+25C>T	ROR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 7318	NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)	ROR2 (R442*)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic
Select item 1276446	NM_004560.4(ROR2):c.1184-187G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218951	NM_004560.4(ROR2):c.1183+123C>G	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212813	NM_004560.4(ROR2):c.1183+53T>C	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 453133	NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg)	ROR2 (G369R)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GUncertain significance
Select item 159810	NM_004560.4(ROR2):c.1045C>G (p.His349Asp)	ROR2 (H349D)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GBenign
Select item 159824	NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)	ROR2 (S329N)	Single nucleotide variant (missense variant)	ROR2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 259432	NM_004560.4(ROR2):c.938-33C>T	ROR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1328671	NM_004560.4(ROR2):c.937+143dup	ROR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1221287	NM_004560.4(ROR2):c.937+119C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279763	NM_004560.4(ROR2):c.937+118C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1051287	NM_004560.4(ROR2):c.863C>T (p.Ala288Val)	ROR2 (A288V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498455	NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	ROR2 (I270V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1304050	NM_004560.4(ROR2):c.746G>A (p.Arg249His)	ROR2 (R249H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159821	NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)	ROR2 (T245A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 367514	NM_004560.4(ROR2):c.717C>T (p.Cys239=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 1275054	NM_004560.4(ROR2):c.623-22G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249528	NM_004560.4(ROR2):c.623-122C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198668	NM_004560.4(ROR2):c.623-286dup	ROR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1252712	NM_004560.4(ROR2):c.623-297del	ROR2	Deletion (intron variant)	not provided	GBenign
Select item 1233707	NM_004560.4(ROR2):c.622+154G>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236286	NM_004560.4(ROR2):c.622+55C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504160	NM_004560.4(ROR2):c.566_569dup (p.Ile191fs)	ROR2 (I191fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 288137	NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)	ROR2 (T190A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1700414	NM_004560.4(ROR2):c.536G>T (p.Gly179Val)	ROR2 (G179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159820	NM_004560.4(ROR2):c.498T>C (p.Asp166=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1222568	NM_004560.4(ROR2):c.495-164A>G	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234054	NM_004560.4(ROR2):c.495-165C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259431	NM_004560.4(ROR2):c.494+25G>A	ROR2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1181440	NM_004560.4(ROR2):c.494+24C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212713	NM_004560.4(ROR2):c.464-142C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200792	NM_004560.4(ROR2):c.464-221A>G	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249378	NM_004560.4(ROR2):c.463+206G>C	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238238	NM_004560.4(ROR2):c.463+193G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367517	NM_004560.4(ROR2):c.276C>T (p.Asn92=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1255071	NM_004560.4(ROR2):c.176-115G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230197	NM_004560.4(ROR2):c.176-319C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159823	NM_004560.4(ROR2):c.98-15G>C	ROR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1242450	NM_004560.4(ROR2):c.98-67A>G	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233857	NM_004560.4(ROR2):c.98-100G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217719	NM_004560.4(ROR2):c.98-204G>A	ROR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243981	NM_004560.4(ROR2):c.98-288C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58478	GRCh38/hg38 9q22.31(chr9:91870872-91952741)x3	LOC113839568, LOC124310585 +2 more	Copy number gain	See cases	GUncertain significance
Select item 58479	GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3	CENPP, IARS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1257043	NM_004560.4(ROR2):c.97+218A>G	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270553	NM_004560.4(ROR2):c.97+200C>A	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273612	NM_004560.4(ROR2):c.97+93C>T	ROR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159822	NM_004560.4(ROR2):c.75G>A (p.Leu25=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 367521	NM_004560.4(ROR2):c.-91G>A	ROR2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1174260	NC_000009.12:g.91950449A>T	ROR2	Single nucleotide variant	not provided	GBenign
Select item 1179818	NC_000009.12:g.91950467A>C	ROR2	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 96