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Parent Node:
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Brachydactyly (D059327)
..Starting node
..expand
Brachydactyly, Type B1 (C566196)

       Child Nodes:



 Sister Nodes: 
..expandAcrocapitofemoral Dysplasia (C564334)
..expandAnonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandBerk-Tabatznik syndrome (C535432)
..expandBork Stender Schmidt syndrome (C536576)
..expandBrachydactyly preaxial with hallux varus and thumb abduction (C537087)
..expandBrachydactyly type A1 (C537088)
..expandBrachydactyly type A2 (C537089)
..expandBrachydactyly type A3 (C537090)
..expandBrachydactyly type A5 nail dysplasia (C537091)
..expandBrachydactyly type A6 (C537092)
..expandBrachydactyly type C (C537093)
..expandBrachydactyly types B and E combined (C537094)
..expandBrachydactyly with hypertension (C537095)
..expandBrachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484)
..expandBrachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..expandBrachydactyly, Long-Thumb Type (C566204)
..expandBrachydactyly, Type A1, B (C564635)
..expandBRACHYDACTYLY, TYPE A1, C (OMIM:615072)
..expandBRACHYDACTYLY, TYPE A1, D (OMIM:616849)
..expandBrachydactyly, Type A2, With Microcephaly (C565894)
..expandBrachydactyly, Type B1 (C566196)
..expandBRACHYDACTYLY, TYPE B2 (OMIM:611377)
..expandBrachydactyly, Type D (C562420)
..expandBrachydactyly, Type E (C566194) Child1
..expandBrachydactyly, Type E, with Atrial Septal Defect, Type II (C566193)
..expandBrachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandBrachymesophalangy 2 and 5 (C537097)
..expandCHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..expandCleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119)
..expandColoboma of Macula and Skeletal Anomalies (C565686)
..expandColoboma of macula type B brachydactyly (C535969)
..expandCryptomicrotia brachydactyly syndrome (C536219)
..expandDigital Arthropathy-Brachydactyly, Familial (C564656)
..expandExostoses with Anetodermia and Brachydactyly, Type E (C565034)
..expandFibular aplasia ectrodactyly (C537930)
..expandFibular hypoplasia and complex brachydactyly (C537931)
..expandFitzsimmons-Guilbert syndrome (C537938)
..expandGOMBO syndrome (C537284)
..expandHeart-hand syndrome, Spanish type (C535853)
..expandHirschsprung disease type d brachydactyly (C538319)
..expandMetaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandPrata Lib茅ral Gon莽alves syndrome (C538277)
..expandProlonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
..expandRobin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSillence syndrome (C537338)
..expandSpondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandThumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
..expandTonoki syndrome (C536967)
..expandUlnar-Fibular Ray Defect and Brachydactyly (C563905)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1527
Name:Brachydactyly, Type B1
Definition:
Alternative IDs:OMIM:113000
ParentIDs:MESH:D059327
TreeNumbers:C05.660.585.262/C566196 |C16.131.621.585.262/C566196
Synonyms:BDB |BDB1 |Brachydactyly, Type B
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566196
MeSH: C566196
OMIM: 113000;
MSeqDR LSDB:  
Genes: JAK2; ROR2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001798Anonychia
3 HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes
4 HP:0011304Broad thumb
5 HP:0012385Camptodactyly
6 HP:0010554Cutaneous finger syndactylyHP:0040283
7 HP:0000270Delayed cranial suture closure
8 HP:0000696Delayed eruption of permanent teeth
9 HP:0002937Hemivertebrae
10 HP:0001804Hypoplastic fingernail
11 HP:0004590Hypoplastic sacrum
12 HP:0009473Joint contracture of the hand
13 HP:0000054Micropenis
14 HP:0003026Short long bone
15 HP:0005819Short middle phalanx of finger
16 HP:0001159Syndactyly
17 HP:0002944Thoracolumbar scoliosis
18 HP:0005831Type B brachydactyly
19 HP:0001629Ventricular septal defect
20 HP:0002948Vertebral fusion
21 HP:0000260Wide anterior fontanel
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004560.4(ROR2):c.*1016T>G4920ROR2Benignrs1135169RCV000286975|RCV000340496; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448492894484928AC9:g.94484928A>CClinGen:CA10634076
NM_004560.4(ROR2):c.*927C>T4920ROR2Benign/Likely benignrs150568265RCV000281887|RCV000376446; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448501794485017GA9:g.94485017G>AClinGen:CA10627636
NM_004560.4(ROR2):c.*886G>T4920ROR2Benignrs114078962RCV000336945|RCV000393410; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448505894485058CA9:g.94485058C>AClinGen:CA10627637
NM_004560.4(ROR2):c.*736A>G4920ROR2Benignrs73654047RCV000312100|RCV000399174; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448520894485208TC9:g.94485208T>CClinGen:CA10630533
NM_004560.4(ROR2):c.*712C>T4920ROR2Benignrs1135150RCV000366805|RCV000400639; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448523294485232GA9:g.94485232G>AClinGen:CA10630537
NM_004560.4(ROR2):c.*682C>G4920ROR2Uncertain significancers1057515678RCV000309031|RCV000363658; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448526294485262GC9:g.94485262G>CClinGen:CA10630541
NM_004560.4(ROR2):c.*571G>C4920ROR2Uncertain significance-1RCV001168994|RCV001168995; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448537394485373CG9:g.94485373C>G-
NM_004560.4(ROR2):c.*558C>T4920ROR2Uncertain significancers571058325RCV000269046|RCV000324079; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448538694485386GA9:g.94485386G>AClinGen:CA10630543
NM_004560.4(ROR2):c.*553G>A4920ROR2Uncertain significance-1RCV001168996|RCV001168997; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448539194485391CT9:g.94485391C>T-
NM_004560.4(ROR2):c.*521G>A4920ROR2Benign/Likely benignrs147339603RCV000265904|RCV000360137; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448542394485423CT9:g.94485423C>TClinGen:CA10630544
NM_004560.4(ROR2):c.*520C>T4920ROR2Conflicting interpretations of pathogenicityrs367760102RCV000320989|RCV000375734; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448542494485424GA9:g.94485424G>AClinGen:CA10634450
NM_004560.4(ROR2):c.*487C>G4920ROR2Uncertain significancers970063320RCV000281231|RCV000317349; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448545794485457GC9:g.94485457G>CClinGen:CA10627644C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*433C>T4920ROR2Uncertain significance-1RCV001254020|RCV001254021; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448551194485511GA9:g.94485511G>A-
NM_004560.4(ROR2):c.*398G>C4920ROR2Uncertain significance-1RCV001166571|RCV001166572; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448554694485546CG9:g.94485546C>G-
NM_004560.4(ROR2):c.*369G>C4920ROR2Uncertain significance-1RCV001166573|RCV001166574; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448557594485575CG9:g.94485575C>G-
NM_004560.4(ROR2):c.*245A>G4920ROR2Benignrs77664658RCV000296399|RCV000372063; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448569994485699TC9:g.94485699T>CClinGen:CA10634088C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*229C>T4920ROR2Benignrs75004227RCV000351316|RCV000397429; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448571594485715GA9:g.94485715G>AClinGen:CA10627645C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*180C>A4920ROR2Uncertain significancers542396423RCV000293163|RCV000347975; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448576494485764GT9:g.94485764G>TClinGen:CA10630546C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*135G>T4920ROR2Uncertain significancers774621355RCV000363114|RCV000401563; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448580994485809CA9:g.94485809C>AClinGen:CA10627649C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*125C>A4920ROR2Uncertain significance-1RCV001168320|RCV001168321; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448581994485819GT9:g.94485819G>T-
NM_004560.4(ROR2):c.*107G>C4920ROR2Uncertain significance-1RCV001168322|RCV001168323; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448583794485837CG9:g.94485837C>G-
NM_004560.4(ROR2):c.*106C>T4920ROR2Conflicting interpretations of pathogenicity-1RCV001169055|RCV001169056; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448583894485838GA9:g.94485838G>A-
NM_004560.4(ROR2):c.*46C>T4920ROR2Uncertain significance-1RCV001169057|RCV001169058; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448589894485898GA9:g.94485898G>A-
NM_004560.4(ROR2):c.*38G>A4920ROR2Uncertain significance-1RCV001169059|RCV001169060; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448590694485906CT9:g.94485906C>T-
NM_004560.4(ROR2):c.*16G>A4920ROR2Benignrs2230578RCV000180605|RCV000305022|RCV000357547; NMedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448592894485928CT9:g.94485928C>TClinGen:CA203749C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)4920ROR2Conflicting interpretations of pathogenicityrs41277835RCV000147390|RCV000180606|RCV000262682|RCV000513925; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448597194485971GC9:g.94485971G>CClinGen:CA248106,UniProtKB:Q01974#VAR_041799C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn)4920ROR2Uncertain significance-1RCV001166154|RCV001166155; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448599494485994CT9:g.94485994C>T-
NM_004560.4(ROR2):c.2727G>A (p.Val909=)4920ROR2Benignrs56091954RCV000261324|RCV000264658|RCV000353928|RCV000961951; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448604994486049CT9:g.94486049C>TClinGen:CA5120322C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)4920ROR2Conflicting interpretations of pathogenicityrs149826387RCV000330356|RCV000332907|RCV000389667; NMedGen:CN517202|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448609294486092TC9:g.94486092T>CClinGen:CA5120335C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile)4920ROR2Conflicting interpretations of pathogenicityrs373037095RCV000293100|RCV000331525; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448612794486127CT9:g.94486127C>TClinGen:CA5120341
NM_004560.4(ROR2):c.2466C>T (p.Asn822=)4920ROR2Benign/Likely benignrs146432734RCV000266094|RCV000291795|RCV000383743|RCV000907683; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448631094486310GA9:g.94486310G>AClinGen:CA5120387C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala)4920ROR2Uncertain significance-1RCV001166642|RCV001166643; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448631894486318GC9:g.94486318G>C-
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)4920ROR2Benignrs10761129RCV000147389|RCV000344414|RCV000382446|RCV001095340; NMedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448632194486321CT9:g.94486321C>TClinGen:CA173328,UniProtKB:Q01974#VAR_010913C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)4920ROR2Conflicting interpretations of pathogenicityrs141235720RCV000180604|RCV000285938|RCV000343192; NMedGen:CN517202|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448638194486381GA9:g.94486381G>AClinGen:CA248104C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2382G>A (p.Pro794=)4920ROR2Conflicting interpretations of pathogenicity-1RCV001168383|RCV001168384; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448639494486394CT9:g.94486394C>T-
NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr)4920ROR2Uncertain significancers1057515680RCV000303094|RCV000397085; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448646294486462AT9:g.94486462A>TClinGen:CA10634096
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)4920ROR2Conflicting interpretations of pathogenicityrs34491822RCV000147388|RCV000180603|RCV000337021|RCV000398258; NMedGen:CN221286|MedGen:CN517202|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448649194486491GA9:g.94486491G>AClinGen:CA173326,UniProtKB:Q01974#VAR_041798C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2277G>A (p.Ala759=)4920ROR2Conflicting interpretations of pathogenicityrs369491865RCV000297240|RCV000354523; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448649994486499CT9:g.94486499C>TClinGen:CA5120430
NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter)4920ROR2Pathogenicrs121909082RCV000007727; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448651194486511GT9:g.94486511G>TClinGen:CA118705,OMIM:602337.0001C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2249del (p.Gly750fs)4920ROR2Pathogenicrs863223289RCV000007729; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448652794486527GCG9:g.94486527_94486527delOMIM:602337.0003,ClinGen:CA278867C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter)4920ROR2Pathogenicrs104894121RCV000007736; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448652994486529CT9:g.94486529C>TClinGen:CA118709,OMIM:602337.0009C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)4920ROR2Pathogenicrs104894122RCV000007728; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448653094486530CT9:g.94486530C>TClinGen:CA118707,OMIM:602337.0002C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2244del (p.Trp749fs)4920ROR2Pathogenicrs863223292RCV000007741; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448653294486532AGA9:g.94486532_94486532delClinGen:CA278870,OMIM:602337.0014C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser)4920ROR2Uncertain significance-1RCV001169140|RCV001169141; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448653494486534CA9:g.94486534C>A-
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)4920ROR2Conflicting interpretations of pathogenicityrs56231927RCV000276157|RCV000314957; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448656494486564GA9:g.94486564G>AClinGen:CA5120455,UniProtKB:Q01974#VAR_041797
NM_004560.4(ROR2):c.2208G>T (p.Arg736=)4920ROR2Uncertain significance-1RCV001166211|RCV001166212; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448656894486568CA9:g.94486568C>A-
NM_004560.4(ROR2):c.2190C>T (p.Asn730=)4920ROR2Conflicting interpretations of pathogenicityrs372509332RCV000275056|RCV000367313; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448658694486586GA9:g.94486586G>AClinGen:CA5120464
NM_004560.4(ROR2):c.2154C>T (p.Pro718=)4920ROR2Benignrs2230577RCV000147387|RCV000327784|RCV000384620; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448662294486622GA9:g.94486622G>AClinGen:CA173324C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=)4920ROR2Benignrs10992063RCV000147386|RCV000269125|RCV000326426; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448668894486688GA9:g.94486688G>AClinGen:CA173322C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg)4920ROR2Benignrs34431454RCV000147385|RCV000286668|RCV000378747|RCV000906153; NMedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448669394486693CT9:g.94486693C>TClinGen:CA173320,UniProtKB:Q01974#VAR_041796C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=)4920ROR2Conflicting interpretations of pathogenicity-1RCV001166714|RCV001166715; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448674294486742GA9:g.94486742G>A-
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile)4920ROR2Conflicting interpretations of pathogenicity-1RCV001166716|RCV001166717; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448678194486781CG9:g.94486781C>G-
NM_004560.4(ROR2):c.1959G>A (p.Leu653=)4920ROR2Conflicting interpretations of pathogenicityrs144549032RCV000147383|RCV000374484|RCV000886960; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448681794486817CT9:g.94486817C>TClinGen:CA272467
NM_004560.4(ROR2):c.1956G>A (p.Ser652=)4920ROR2Conflicting interpretations of pathogenicity-1RCV001168440|RCV001168441; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448682094486820CT9:g.94486820C>T-
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn)4920ROR2Uncertain significance-1RCV001168442|RCV001168443; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448690694486906AT9:g.94486906A>T-
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe)4920ROR2Uncertain significancers769849104RCV000282386|RCV000335096; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448695694486956GA9:g.94486956G>AClinGen:CA5120552
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)4920ROR2Conflicting interpretations of pathogenicityrs142386294RCV000314104|RCV000324852|RCV000395654; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN517202|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448702094487020CT9:g.94487020C>TClinGen:CA5120580C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)4920ROR2Conflicting interpretations of pathogenicityrs150610444RCV000312525|RCV001169178|RCV001169179; NMedGen:CN517202|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448704094487040TA9:g.94487040T>AClinGen:CA5120589CN169374 not specified;
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu)4920ROR2Conflicting interpretations of pathogenicityrs140579674RCV000352520|RCV000400229; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448705694487056CA9:g.94487056C>AClinGen:CA5120595
NM_004560.4(ROR2):c.1716G>A (p.Ser572=)4920ROR2Conflicting interpretations of pathogenicityrs139654946RCV000902740|RCV001169180|RCV001169181; NMedGen:CN517202|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448706094487060CT9:g.94487060C>T-
NM_004560.4(ROR2):c.1712A>G (p.His571Arg)4920ROR2Benign/Likely benignrs376970201RCV000273411|RCV000312844|RCV000365373|RCV000907684; NMedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448706494487064TC9:g.94487064T>CClinGen:CA5120599C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1710G>A (p.Pro570=)4920ROR2Benignrs41277837RCV000147382|RCV000273070|RCV000307221; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448706694487066CT9:g.94487066C>TClinGen:CA173316C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1686C>T (p.His562=)4920ROR2Benignrs56048121RCV000267312|RCV000354763|RCV000364214|RCV000953607; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448709094487090GA9:g.94487090G>AClinGen:CA5120611C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)4920ROR2Conflicting interpretations of pathogenicityrs56099091RCV000324883|RCV000377123|RCV000406751; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448710694487106GA9:g.94487106G>AClinGen:CA5120616,UniProtKB:Q01974#VAR_041793C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1644C>A (p.Pro548=)4920ROR2Uncertain significance-1RCV001166784|RCV001166785; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448713294487132GT9:g.94487132G>T-
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser)4920ROR2Benignrs35764413RCV000265108|RCV000319060|RCV000961952; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448713494487134GA9:g.94487134G>AClinGen:CA5120624,UniProtKB:Q01974#VAR_041792
NM_004560.4(ROR2):c.1596A>G (p.Gln532=)4920ROR2Conflicting interpretations of pathogenicity-1RCV001166786|RCV001166787; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448718094487180TC9:g.94487180T>C-
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)4920ROR2Benign/Likely benignrs35852786RCV000279061|RCV000288113|RCV000509126|RCV000891712; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448718794487187CT9:g.94487187C>TClinGen:CA5120640,UniProtKB:Q01974#VAR_041790C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)4920ROR2Conflicting interpretations of pathogenicityrs142215888RCV000597656|RCV001168499|RCV001168500; NMedGen:CN517202|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448719394487193CT9:g.94487193C>TClinGen:CA5120642CN169374 not specified;
NM_004560.4(ROR2):c.1566G>T (p.Arg522=)4920ROR2Uncertain significance-1RCV001168501|RCV001168502; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448721094487210CA9:g.94487210C>A-
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp)4920ROR2Uncertain significancers148896640RCV000317822|RCV000388602; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448722494487224GA9:g.94487224G>AClinGen:CA5120656
NM_004560.4(ROR2):c.1491G>A (p.Pro497=)4920ROR2Conflicting interpretations of pathogenicityrs146347005RCV000296550|RCV000349239|RCV000903900; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448728594487285CT9:g.94487285C>TClinGen:CA5120670
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)4920ROR2Conflicting interpretations of pathogenicityrs767474960RCV000290524|RCV000397545|RCV000731519; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299448732894487328CT9:g.94487328C>TClinGen:CA5120683
NM_004560.4(ROR2):c.1416G>A (p.Ala472=)4920ROR2Conflicting interpretations of pathogenicityrs201064212RCV000347862|RCV000397540; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448736094487360CT9:g.94487360C>TClinGen:CA5120688
NM_004560.4(ROR2):c.1366dup (p.Leu456fs)4920ROR2Pathogenicrs1587657302RCV000007740; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448884294488843AAG9:g.94488842_94488843insGOMIM:602337.0013C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg)4920ROR2Uncertain significance-1RCV001169236|RCV001169237; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448886294488862GC9:g.94488862G>C-
NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)4920ROR2Pathogenicrs863223290RCV000007734|RCV000007735; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:C315160999448888494488888TCGCCGT9:g.94488884_94488888delClinGen:CA278868,OMIM:602337.0008C3151609 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals;
NM_004560.4(ROR2):c.1317G>A (p.Pro439=)4920ROR2Conflicting interpretations of pathogenicity-1RCV001169238|RCV001169239; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399448889294488892CT9:g.94488892C>T-
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val)4920ROR2Conflicting interpretations of pathogenicityrs149842671RCV000308020|RCV000360660; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448890294488902GA9:g.94488902G>AClinGen:CA5120732
NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr)4920ROR2Uncertain significance-1RCV001166322|RCV001166323; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448890994488909CT9:g.94488909C>T-
NM_004560.4(ROR2):c.1279A>G (p.Met427Val)4920ROR2Uncertain significance-1RCV001166324|RCV001166325; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448893094488930TC9:g.94488930T>C-
NM_004560.4(ROR2):c.1234A>G (p.Ile412Val)4920ROR2Uncertain significancers1057515681RCV000302280|RCV000401531; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448897594488975TC9:g.94488975T>CClinGen:CA10627662
NM_004560.4(ROR2):c.1184-10T>C4920ROR2Conflicting interpretations of pathogenicityrs184670366RCV000263077|RCV000359431; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099448903594489035AG9:g.94489035A>GClinGen:CA5120755
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg)4920ROR2Uncertain significance-1RCV001166839|RCV001166840; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449327294493272GC9:g.94493272G>C-
NM_004560.4(ROR2):c.1045C>G (p.His349Asp)4920ROR2Benignrs55983376RCV000147381|RCV000224263|RCV000315906|RCV000354471; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399449333094493330GC9:g.94493330G>CClinGen:CA173314,UniProtKB:Q01974#VAR_041788
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile)4920ROR2Uncertain significance-1RCV001166841|RCV001166842; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449338694493386GA9:g.94493386G>A-
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)4920ROR2Conflicting interpretations of pathogenicityrs371221714RCV000147395|RCV000276095|RCV000894196; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299449338994493389CT9:g.94493389C>TClinGen:CA272469
NM_004560.4(ROR2):c.938-15G>A4920ROR2Uncertain significance-1RCV001168555|RCV001168556; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399449345294493452CT9:g.94493452C>T-
NM_004560.4(ROR2):c.937+10C>T4920ROR2Benign/Likely benignrs201083970RCV000179444|RCV000293352|RCV000385746|RCV000971909; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299449539494495394GA9:g.94495394G>AClinGen:CA203297C0221357 Brachydactyly;
NM_004560.4(ROR2):c.935G>A (p.Arg312His)4920ROR2Benign/Likely benignrs188376581RCV000327244|RCV000384676; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449540694495406CT9:g.94495406C>TClinGen:CA5120858
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn)4920ROR2Uncertain significance-1RCV001169311|RCV001169312; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449545594495455CT9:g.94495455C>T-
NM_004560.4(ROR2):c.864G>A (p.Ala288=)4920ROR2Conflicting interpretations of pathogenicityrs142926399RCV000287985|RCV000345180|RCV000900090; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299449547794495477CT9:g.94495477C>TClinGen:CA5120871
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)4920ROR2Conflicting interpretations of pathogenicity-1RCV001169313|RCV001169314; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449558194495581CT9:g.94495581C>T-
NM_004560.4(ROR2):c.751C>T (p.Leu251=)4920ROR2Benign/Likely benignrs368471121RCV000286613|RCV000403944|RCV000933747; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299449559094495590GA9:g.94495590G>AClinGen:CA5120903
NM_004560.4(ROR2):c.744G>A (p.Pro248=)4920ROR2Likely benignrs757948078RCV000339264|RCV000397233; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449559794495597CT9:g.94495597C>TClinGen:CA5120905
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)4920ROR2Benignrs10820900RCV000147392|RCV000299600|RCV000357148; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399449560894495608TC9:g.94495608T>CClinGen:CA173332,UniProtKB:Q01974#VAR_010912C0221357 Brachydactyly;
NM_004560.4(ROR2):c.731G>A (p.Arg244Gln)4920ROR2Uncertain significance-1RCV001166380|RCV001166381; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399449561094495610CT9:g.94495610C>T-
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)4920ROR2Conflicting interpretations of pathogenicityrs148340413RCV000179445|RCV000779586|RCV001166901; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399449561194495611GA9:g.94495611G>AClinGen:CA246689
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu)4920ROR2Conflicting interpretations of pathogenicity-1RCV001166902|RCV001166903; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449561994495619GT9:g.94495619G>T-
NM_004560.4(ROR2):c.717C>T (p.Cys239=)4920ROR2Benignrs56302651RCV000298671|RCV000401720|RCV000881890; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299449562494495624GA9:g.94495624G>AClinGen:CA5120917
NM_004560.4(ROR2):c.702C>T (p.Phe234=)4920ROR2Uncertain significancers559697443RCV000277682|RCV000369670; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449563994495639GA9:g.94495639G>AClinGen:CA5120919
NM_004560.4(ROR2):c.678C>T (p.Phe226=)4920ROR2Uncertain significancers202159869RCV000330462|RCV000331211|RCV000368671; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN517202|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099449566394495663GA9:g.94495663G>AClinGen:CA5120921C0221357 Brachydactyly;
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)4920ROR2Conflicting interpretations of pathogenicityrs34574788RCV000271810|RCV000329348|RCV000337531; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299449972794499727TC9:g.94499727T>CClinGen:CA5120972C0221357 Brachydactyly;
NM_004560.4(ROR2):c.498T>C (p.Asp166=)4920ROR2Benignrs16907720RCV000147391|RCV000270797|RCV000381562; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399449979794499797AG9:g.94499797A>GClinGen:CA173330C0221357 Brachydactyly;
NM_004560.4(ROR2):c.471G>A (p.Thr157=)4920ROR2Benignrs78781083RCV000323552|RCV000380521|RCV000906005; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299451837694518376CT9:g.94518376C>TClinGen:CA5121017
NM_004560.4(ROR2):c.372C>T (p.Asp124=)4920ROR2Benign/Likely benignrs145568368RCV000246827|RCV000286337|RCV000341308|RCV000969995; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299451964594519645GA9:g.94519645G>AClinGen:CA243330C0221357 Brachydactyly;
NM_004560.4(ROR2):c.276C>T (p.Asn92=)4920ROR2Benignrs56227711RCV000282689|RCV000372574|RCV000961953; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299451974194519741GA9:g.94519741G>AClinGen:CA5121072
NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser)4920ROR2Uncertain significance-1RCV001169379|RCV001169380; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399451983894519838TG9:g.94519838T>G-
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp)4920ROR2Conflicting interpretations of pathogenicity-1RCV001169381|RCV001169382; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399453804394538043CT9:g.94538043C>T-
NM_004560.4(ROR2):c.153C>T (p.Asp51=)4920ROR2Conflicting interpretations of pathogenicityrs572950289RCV000337763|RCV000395571|RCV000899530; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299453804594538045GA9:g.94538045G>AClinGen:CA5121123
NM_004560.4(ROR2):c.146G>T (p.Gly49Val)4920ROR2Conflicting interpretations of pathogenicity-1RCV001166439|RCV001166440; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399453805294538052CA9:g.94538052C>A-
NM_004560.4(ROR2):c.98-15G>C4920ROR2Benignrs7863557RCV000147394|RCV000312010|RCV000352624; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399453811594538115CG9:g.94538115C>GClinGen:CA173334C0221357 Brachydactyly;
NM_004560.4(ROR2):c.75G>A (p.Leu25=)4920ROR2Conflicting interpretations of pathogenicityrs148237260RCV000147393|RCV000173351|RCV000308365|RCV000974248; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MedGen:CN51720299471217194712171CT9:g.94712171C>TClinGen:CA200468C0221357 Brachydactyly;
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)4920ROR2Benign/Likely benignrs539329891RCV000173350|RCV000272869|RCV000363075; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471223994712239GA9:g.94712239G>AClinGen:CA238800C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-36A>G4920ROR2Uncertain significancers756061621RCV000309212|RCV000359270; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471228194712281TC9:g.94712281T>CClinGen:CA5121157
NM_004560.4(ROR2):c.-60G>T4920ROR2Benign/Likely benignrs184095609RCV000264551|RCV000324615; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099471230594712305CA9:g.94712305C>AClinGen:CA10630558
NM_004560.4(ROR2):c.-66G>T4920ROR2Uncertain significance-1RCV001166971|RCV001166972; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471231194712311CA9:g.94712311C>A-
NM_004560.4(ROR2):c.-90A>G4920ROR2Uncertain significance-1RCV001166973|RCV001168685; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471233594712335TC9:g.94712335T>C-
NM_004560.4(ROR2):c.-91G>A4920ROR2Benign/Likely benignrs141262722RCV000261212|RCV000379180; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471233694712336CT9:g.94712336C>TClinGen:CA10634109
NM_004560.4(ROR2):c.-102G>T4920ROR2Uncertain significancers932588990RCV000316428|RCV000375208; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471234794712347CA9:g.94712347C>AClinGen:CA10634475
NM_004560.4(ROR2):c.-118C>T4920ROR2Uncertain significance-1RCV001168686|RCV001168687; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471236394712363GA9:g.94712363G>A-
NM_004560.4(ROR2):c.-121A>C4920ROR2Conflicting interpretations of pathogenicityrs555789981RCV000280726|RCV000349772; NMONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:9338399471236694712366TG9:g.94712366T>GClinGen:CA10634110
NM_004560.4(ROR2):c.-135G>C4920ROR2Uncertain significancers1057515683RCV000295759|RCV000385667; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099471238094712380CG9:g.94712380C>GClinGen:CA10627666
NM_004560.4(ROR2):c.-154G>C4920ROR2Uncertain significancers1057515684RCV000350680|RCV000398130; NHuman Phenotype Ontology:HP:0005831,MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C1849334,OMIM:268310, Orphanet:1507, Orphanet:9736099471239994712399CG9:g.94712399C>GClinGen:CA10634111
MSeqDR Portal