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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; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448492894484928ACNC_000009.11:g.94484928A>CClinGen:CA10634076C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*927C>T4920ROR2Benign/Likely benignrs150568265RCV000281887|RCV000376446; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448501794485017GANC_000009.11:g.94485017G>AClinGen:CA10627636C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*886G>T4920ROR2Benignrs114078962RCV000336945|RCV000393410; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448505894485058CANC_000009.11:g.94485058C>AClinGen:CA10627637C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*736A>G4920ROR2Benignrs73654047RCV000312100|RCV000399174; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448520894485208TCNC_000009.11:g.94485208T>CClinGen:CA10630533C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*712C>T4920ROR2Benignrs1135150RCV000366805|RCV000400639|RCV001692080; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448523294485232GANC_000009.11:g.94485232G>AClinGen:CA10630537C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*682C>G4920ROR2Uncertain significancers1057515678RCV000309031|RCV000363658; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448526294485262GCNC_000009.11:g.94485262G>CClinGen:CA10630541C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*571G>C4920ROR2Uncertain significancers1836854224RCV001168994|RCV001168995; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448537394485373CG9:g.94485373C>G-
NM_004560.4(ROR2):c.*558C>T4920ROR2Uncertain significancers571058325RCV000269046|RCV000324079; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448538694485386GANC_000009.11:g.94485386G>AClinGen:CA10630543C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*553G>A4920ROR2Uncertain significancers769673512RCV001168997|RCV001168996; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448539194485391CT9:g.94485391C>T-
NM_004560.4(ROR2):c.*521G>A4920ROR2Benign/Likely benignrs147339603RCV000265904|RCV000360137; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448542394485423CTNC_000009.11:g.94485423C>TClinGen:CA10630544C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*520C>T4920ROR2Conflicting interpretations of pathogenicityrs367760102RCV000320989|RCV000375734; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448542494485424GANC_000009.11:g.94485424G>AClinGen:CA10634450C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*487C>G4920ROR2Uncertain significancers970063320RCV000281231|RCV000317349; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448545794485457GC9:g.94485457G>CClinGen:CA10627644C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*433C>T4920ROR2Uncertain significancers919431237RCV001254020|RCV001254021; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448551194485511GA9:g.94485511G>A-
NM_004560.4(ROR2):c.*398G>C4920ROR2Uncertain significancers941756148RCV001166571|RCV001166572; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448554694485546CG9:g.94485546C>G-
NM_004560.4(ROR2):c.*369G>C4920ROR2Uncertain significancers555728388RCV001166574|RCV001166573; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448557594485575CG9:g.94485575C>G-
NM_004560.4(ROR2):c.*245A>G4920ROR2Benignrs77664658RCV000296399|RCV000372063; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448569994485699TC9:g.94485699T>CClinGen:CA10634088C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*229C>T4920ROR2Benign/Likely benignrs75004227RCV000351316|RCV000397429|RCV001591042; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448571594485715GA9:g.94485715G>AClinGen:CA10627645C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*180C>A4920ROR2Uncertain significancers542396423RCV000293163|RCV000347975; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448576494485764GT9:g.94485764G>TClinGen:CA10630546C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*135G>T4920ROR2Uncertain significancers774621355RCV000363114|RCV000401563; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448580994485809CA9:g.94485809C>AClinGen:CA10627649C0221357 Brachydactyly;
NM_004560.4(ROR2):c.*125C>A4920ROR2Uncertain significancers1836869944RCV001168320|RCV001168321; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448581994485819GT9:g.94485819G>T-
NM_004560.4(ROR2):c.*107G>C4920ROR2Uncertain significancers189697737RCV001168323|RCV001168322; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448583794485837CG9:g.94485837C>G-
NM_004560.4(ROR2):c.*106C>T4920ROR2Conflicting interpretations of pathogenicityrs531108921RCV001169056|RCV001169055; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448583894485838GA9:g.94485838G>A-
NM_004560.4(ROR2):c.*46C>T4920ROR2Uncertain significancers759105926RCV001169058|RCV001169057; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448589894485898GA9:g.94485898G>A-
NM_004560.4(ROR2):c.*38G>A4920ROR2Uncertain significancers367597436RCV001169059|RCV001169060; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448590694485906CT9:g.94485906C>T-
NM_004560.4(ROR2):c.*16G>A4920ROR2Benignrs2230578RCV000180605|RCV000305022|RCV000357547|RCV001689719; NMedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448592894485928CT9: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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448597194485971GC9:g.94485971G>CClinGen:CA248106,UniProtKB:Q01974#VAR_041799C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn)4920ROR2Uncertain significancers199855010RCV001166154|RCV001166155; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448599494485994CT9:g.94485994C>T-
NM_004560.4(ROR2):c.2727G>A (p.Val909=)4920ROR2Benignrs56091954RCV000261324|RCV000264658|RCV000353928|RCV000961951; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,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|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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|RCV001861351; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448612794486127CTNC_000009.11:g.94486127C>TClinGen:CA5120341C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2625dup (p.Thr876fs)4920ROR2Conflicting interpretations of pathogenicityrs1836888405RCV001293680|RCV001310271; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0099448615094486151TTG94486150-
NM_004560.4(ROR2):c.2466C>T (p.Asn822=)4920ROR2Benign/Likely benignrs146432734RCV000266094|RCV000291795|RCV000383743|RCV000907683; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448631094486310GA9:g.94486310G>AClinGen:CA5120387C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala)4920ROR2Uncertain significancers1253369894RCV001166642|RCV001166643; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448631894486318GC9:g.94486318G>C-
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)4920ROR2Benignrs10761129RCV000147389|RCV000344414|RCV000382446|RCV001095340|RCV001522558; NMedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedG99448632194486321CT9: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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448638194486381GA9:g.94486381G>AClinGen:CA248104C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2382G>A (p.Pro794=)4920ROR2Conflicting interpretations of pathogenicityrs532042443RCV001168383|RCV001168384|RCV001399464; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448639494486394CT9:g.94486394C>T-
NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr)4920ROR2Uncertain significancers1057515680RCV000303094|RCV000397085; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448646294486462ATNC_000009.11:g.94486462A>TClinGen:CA10634096C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2305C>T (p.Gln769Ter)4920ROR2Conflicting interpretations of pathogenicityrs1836911147RCV001332481|RCV001773668; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448647194486471GA94486471-
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)4920ROR2Conflicting interpretations of pathogenicityrs34491822RCV000147388|RCV000180603|RCV000337021|RCV000398258; NMedGen:CN221286|MedGen:CN517202|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448649994486499CTNC_000009.11:g.94486499C>TClinGen:CA5120430C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter)4920ROR2Pathogenicrs121909082RCV000007727; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448651194486511GT9:g.94486511G>TClinGen:CA118705,OMIM:602337.0001C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2249del (p.Gly750fs)4920ROR2Pathogenicrs863223289RCV000007729; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448652794486527GCG9:g.94486527_94486527delClinGen:CA278867,OMIM:602337.0003C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter)4920ROR2Pathogenicrs104894121RCV000007736; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448652994486529CT9:g.94486529C>TClinGen:CA118709,OMIM:602337.0009C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)4920ROR2Pathogenicrs104894122RCV000007728; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448653094486530CT9:g.94486530C>TClinGen:CA118707,OMIM:602337.0002C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2244del (p.Trp749fs)4920ROR2Pathogenicrs863223292RCV000007741; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448653294486532AGA9:g.94486532_94486532delClinGen:CA278870,OMIM:602337.0014C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser)4920ROR2Uncertain significancers1836916256RCV001169140|RCV001169141; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448653494486534CA9:g.94486534C>A-
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)4920ROR2Conflicting interpretations of pathogenicityrs56231927RCV000276157|RCV000314957|RCV001310262; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:99448656494486564GANC_000009.11:g.94486564G>AClinGen:CA5120455,UniProtKB:Q01974#VAR_041797C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2208G>T (p.Arg736=)4920ROR2Uncertain significancers1587653081RCV001166211|RCV001166212; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448656894486568CA9:g.94486568C>A-
NM_004560.4(ROR2):c.2190C>T (p.Asn730=)4920ROR2Conflicting interpretations of pathogenicityrs372509332RCV000275056|RCV000367313|RCV002058817; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448658694486586GANC_000009.11:g.94486586G>AClinGen:CA5120464C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2154C>T (p.Pro718=)4920ROR2Benignrs2230577RCV000147387|RCV000327784|RCV000384620|RCV001514499; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448662294486622GA9:g.94486622G>AClinGen:CA173324C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=)4920ROR2Benignrs10992063RCV000147386|RCV000269125|RCV000326426|RCV001522559; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448668894486688GA9:g.94486688G>AClinGen:CA173322C0221357 Brachydactyly;
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg)4920ROR2Benignrs34431454RCV000147385|RCV000286668|RCV000378747|RCV000906153; NMedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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 pathogenicityrs199681534RCV001166714|RCV001166715|RCV001436466; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448674294486742GA9:g.94486742G>A-
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile)4920ROR2Conflicting interpretations of pathogenicityrs763115397RCV001166717|RCV001166716; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448678194486781CG9:g.94486781C>G-
NM_004560.4(ROR2):c.1959G>A (p.Leu653=)4920ROR2Conflicting interpretations of pathogenicityrs144549032RCV000147383|RCV000374484|RCV000886960; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448681794486817CTNC_000009.11:g.94486817C>TClinGen:CA272467C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1956G>A (p.Ser652=)4920ROR2Conflicting interpretations of pathogenicityrs374939956RCV001168440|RCV001168441; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448682094486820CT9:g.94486820C>T-
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn)4920ROR2Uncertain significancers1836942190RCV001168442|RCV001168443; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448690694486906AT9:g.94486906A>T-
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe)4920ROR2Uncertain significancers769849104RCV000282386|RCV000335096; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448695694486956GANC_000009.11:g.94486956G>AClinGen:CA5120552C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)4920ROR2Conflicting interpretations of pathogenicityrs142386294RCV000314104|RCV000324852|RCV000395654; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN517202|MONDO:MONDO:0009999,MedGen:C5399974,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|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448705694487056CANC_000009.11:g.94487056C>AClinGen:CA5120595C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1716G>A (p.Ser572=)4920ROR2Conflicting interpretations of pathogenicityrs139654946RCV000902740|RCV001169180|RCV001169181; NMedGen:CN517202|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448706494487064TC9:g.94487064T>CClinGen:CA5120599C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1710G>A (p.Pro570=)4920ROR2Benign/Likely benignrs41277837RCV000147382|RCV000307221|RCV000273070|RCV001515731; NMedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448706694487066CT9:g.94487066C>TClinGen:CA173316C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1686C>T (p.His562=)4920ROR2Benignrs56048121RCV000267312|RCV000364214|RCV000354763|RCV000953607; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN169374|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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448710694487106GA9:g.94487106G>AClinGen:CA5120616,UniProtKB:Q01974#VAR_041793C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1644C>A (p.Pro548=)4920ROR2Uncertain significancers1836960066RCV001166785|RCV001166784; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448713294487132GT9:g.94487132G>T-
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser)4920ROR2Benignrs35764413RCV000265108|RCV000319060|RCV000961952; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448713494487134GANC_000009.11:g.94487134G>AClinGen:CA5120624,UniProtKB:Q01974#VAR_041792C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1596A>G (p.Gln532=)4920ROR2Conflicting interpretations of pathogenicityrs528393492RCV001166787|RCV001166786|RCV002067814; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448718094487180TC9:g.94487180T>C-
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)4920ROR2Benign/Likely benignrs35852786RCV000279061|RCV000288113|RCV000509126|RCV000891712; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, 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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448719394487193CT9:g.94487193C>TClinGen:CA5120642CN169374 not specified;
NM_004560.4(ROR2):c.1566G>T (p.Arg522=)4920ROR2Uncertain significancers755724416RCV001168501|RCV001168502; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448722494487224GANC_000009.11:g.94487224G>AClinGen:CA5120656C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1491G>A (p.Pro497=)4920ROR2Conflicting interpretations of pathogenicityrs146347005RCV000296550|RCV000349239|RCV000903900; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448728594487285CTNC_000009.11:g.94487285C>TClinGen:CA5120670C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)4920ROR2Conflicting interpretations of pathogenicityrs767474960RCV000290524|RCV000397545|RCV000731519; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448732894487328CTNC_000009.11:g.94487328C>TClinGen:CA5120683C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1416G>A (p.Ala472=)4920ROR2Conflicting interpretations of pathogenicityrs201064212RCV000347862|RCV000397540|RCV001464193; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299448736094487360CTNC_000009.11:g.94487360C>TClinGen:CA5120688C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1366dup (p.Leu456fs)4920ROR2Pathogenicrs1587657302RCV000007740; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399448884294488843AAG9:g.94488842_94488843insGOMIM:602337.0013C1862112 113000 Type B brachydactyly;
NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg)4920ROR2Uncertain significancers1837043278RCV001169236|RCV001169237; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448886294488862GC9:g.94488862G>C-
NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)4920ROR2Pathogenicrs863223290RCV000007734|RCV000007735; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, 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 pathogenicityrs150661792RCV001169239|RCV001169238|RCV002068036; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448889294488892CT9:g.94488892C>T-
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val)4920ROR2Conflicting interpretations of pathogenicityrs149842671RCV000308020|RCV000360660|RCV002058818; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448890294488902GANC_000009.11:g.94488902G>AClinGen:CA5120732C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr)4920ROR2Uncertain significancers144447132RCV001166322|RCV001166323; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448890994488909CT9:g.94488909C>T-
NM_004560.4(ROR2):c.1279A>G (p.Met427Val)4920ROR2Uncertain significancers148390451RCV001166324|RCV001166325|RCV001859078; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299448893094488930TC9:g.94488930T>C-
NM_004560.4(ROR2):c.1234A>G (p.Ile412Val)4920ROR2Uncertain significancers1057515681RCV000302280|RCV000401531; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448897594488975TCNC_000009.11:g.94488975T>CClinGen:CA10627662C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1184-10T>C4920ROR2Conflicting interpretations of pathogenicityrs184670366RCV000263077|RCV000359431; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099448903594489035AGNC_000009.11:g.94489035A>GClinGen:CA5120755C0221357 Brachydactyly;
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg)4920ROR2Uncertain significancers1716064320RCV001166839|RCV001166840; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399449333094493330GCNC_000009.11:g.94493330G>CClinGen:CA173314,UniProtKB:Q01974#VAR_041788C0221357 Brachydactyly;
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile)4920ROR2Uncertain significancers1837228232RCV001166842|RCV001166841; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399449338694493386GA9:g.94493386G>A-
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)4920ROR2Conflicting interpretations of pathogenicityrs371221714RCV000147395|RCV000276095|RCV000894196; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449338994493389CTNC_000009.11:g.94493389C>TClinGen:CA272469C0221357 Brachydactyly;
NM_004560.4(ROR2):c.938-15G>A4920ROR2Uncertain significancers1837231210RCV001168556|RCV001168555; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099449345294493452CT9:g.94493452C>T-
NM_004560.4(ROR2):c.937+10C>T4920ROR2Benign/Likely benignrs201083970RCV000179444|RCV000293352|RCV000385746|RCV000971909; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449539494495394GA9:g.94495394G>AClinGen:CA203297C0221357 Brachydactyly;
NM_004560.4(ROR2):c.935G>A (p.Arg312His)4920ROR2Benign/Likely benignrs188376581RCV000327244|RCV000384676|RCV001310265|RCV002058819; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:99449540694495406CTNC_000009.11:g.94495406C>TClinGen:CA5120858C0221357 Brachydactyly;
NM_004560.4(ROR2):c.929T>G (p.Leu310Arg)4920ROR2Uncertain significance-1RCV001761537; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399449541294495412AC94495412-
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn)4920ROR2Uncertain significancers867038828RCV001169311|RCV001169312; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449547794495477CTNC_000009.11:g.94495477C>TClinGen:CA5120871C0221357 Brachydactyly;
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)4920ROR2Conflicting interpretations of pathogenicityrs374492597RCV001169314|RCV001169313|RCV002067833; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449558194495581CT9:g.94495581C>T-
NM_004560.4(ROR2):c.751C>T (p.Leu251=)4920ROR2Benign/Likely benignrs368471121RCV000286613|RCV000403944|RCV000933747; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449559094495590GANC_000009.11:g.94495590G>AClinGen:CA5120903C0221357 Brachydactyly;
NM_004560.4(ROR2):c.744G>A (p.Pro248=)4920ROR2Benign/Likely benignrs757948078RCV000339264|RCV000397233|RCV002058820; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299449559794495597CTNC_000009.11:g.94495597C>TClinGen:CA5120905C0221357 Brachydactyly;
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)4920ROR2Benignrs10820900RCV000147392|RCV000357148|RCV000299600|RCV001522560; NMedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299449560894495608TC9:g.94495608T>CClinGen:CA173332,UniProtKB:Q01974#VAR_010912C0221357 Brachydactyly;
NM_004560.4(ROR2):c.731G>A (p.Arg244Gln)4920ROR2Uncertain significancers55737262RCV001166380|RCV001166381; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399449561094495610CT9:g.94495610C>T-
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)4920ROR2Conflicting interpretations of pathogenicityrs148340413RCV000179445|RCV000779586|RCV001166901|RCV001511051; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449561194495611GANC_000009.11:g.94495611G>AClinGen:CA246689
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu)4920ROR2Conflicting interpretations of pathogenicityrs771096772RCV001166903|RCV001166902|RCV001751297; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449561994495619GT9:g.94495619G>T-
NM_004560.4(ROR2):c.717C>T (p.Cys239=)4920ROR2Benign/Likely benignrs56302651RCV000298671|RCV000401720|RCV000881890; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299449562494495624GANC_000009.11:g.94495624G>AClinGen:CA5120917C0221357 Brachydactyly;
NM_004560.4(ROR2):c.702C>T (p.Phe234=)4920ROR2Conflicting interpretations of pathogenicityrs559697443RCV000277682|RCV000369670|RCV002058821; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299449563994495639GANC_000009.11:g.94495639G>AClinGen:CA5120919C0221357 Brachydactyly;
NM_004560.4(ROR2):c.678C>T (p.Phe226=)4920ROR2Uncertain significancers202159869RCV000331211|RCV000330462|RCV000368671; NMedGen:CN517202|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,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|RCV001509912; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299449979794499797AG9:g.94499797A>GClinGen:CA173330C0221357 Brachydactyly;
NM_004560.4(ROR2):c.494+25G>A4920ROR2Benignrs12683181RCV000249961|RCV001640532|RCV001795453|RCV001795452; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399451832894518328CT9:g.94518328C>TClinGen:CA5121004CN169374 not specified;
NM_004560.4(ROR2):c.471G>A (p.Thr157=)4920ROR2Benignrs78781083RCV000323552|RCV000380521|RCV000906005; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN51720299451837694518376CTNC_000009.11:g.94518376C>TClinGen:CA5121017C0221357 Brachydactyly;
NM_004560.4(ROR2):c.372C>T (p.Asp124=)4920ROR2Benign/Likely benignrs145568368RCV000286337|RCV000246827|RCV000341308|RCV000969995; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, 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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299451974194519741GANC_000009.11:g.94519741G>AClinGen:CA5121072C0221357 Brachydactyly;
NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser)4920ROR2Uncertain significancers768160554RCV001169379|RCV001169380; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399451983894519838TG9:g.94519838T>G-
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp)4920ROR2Conflicting interpretations of pathogenicityrs201425107RCV001169381|RCV001169382|RCV002068039; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299453804394538043CT9:g.94538043C>T-
NM_004560.4(ROR2):c.153C>T (p.Asp51=)4920ROR2Conflicting interpretations of pathogenicityrs572950289RCV000337763|RCV000395571|RCV000899530; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299453804594538045GANC_000009.11:g.94538045G>AClinGen:CA5121123C0221357 Brachydactyly;
NM_004560.4(ROR2):c.146G>T (p.Gly49Val)4920ROR2Conflicting interpretations of pathogenicityrs201991252RCV001166440|RCV001166439; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099453805294538052CA9:g.94538052C>A-
NM_004560.4(ROR2):c.98-15G>C4920ROR2Benignrs7863557RCV000147394|RCV000312010|RCV000352624|RCV001709498; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299453811594538115CG9: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:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299471217194712171CT9:g.94712171C>TClinGen:CA200468C0221357 Brachydactyly;
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)4920ROR2Conflicting interpretations of pathogenicityrs539329891RCV000173350|RCV000272869|RCV000363075|RCV001309610; NMedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299471223994712239GA9:g.94712239G>AClinGen:CA238800C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-36A>G4920ROR2Uncertain significancers756061621RCV000309212|RCV000359270; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399471228194712281TCNC_000009.11:g.94712281T>CClinGen:CA5121157C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-60G>T4920ROR2Benign/Likely benignrs184095609RCV000264551|RCV000324615; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099471230594712305CANC_000009.11:g.94712305C>AClinGen:CA10630558C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-66G>T4920ROR2Uncertain significancers1463989966RCV001166971|RCV001166972; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399471231194712311CA9:g.94712311C>A-
NM_004560.4(ROR2):c.-90A>G4920ROR2Uncertain significancers1587871077RCV001166973|RCV001168685; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399471233594712335TC9:g.94712335T>C-
NM_004560.4(ROR2):c.-91G>A4920ROR2Benign/Likely benignrs141262722RCV000261212|RCV000379180|RCV001558892; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MedGen:CN51720299471233694712336CTNC_000009.11:g.94712336C>TClinGen:CA10634109C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-102G>T4920ROR2Uncertain significancers932588990RCV000316428|RCV000375208; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399471234794712347CANC_000009.11:g.94712347C>AClinGen:CA10634475C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-118C>T4920ROR2Uncertain significancers1832134851RCV001168686|RCV001168687; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399471236394712363GA9:g.94712363G>A-
NM_004560.4(ROR2):c.-121A>C4920ROR2Conflicting interpretations of pathogenicityrs555789981RCV000280726|RCV000349772; NMONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:9338399471236694712366TGNC_000009.11:g.94712366T>GClinGen:CA10634110C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-135G>C4920ROR2Uncertain significancers1057515683RCV000295759|RCV000385667; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099471238094712380CGNC_000009.11:g.94712380C>GClinGen:CA10627666C0221357 Brachydactyly;
NM_004560.4(ROR2):c.-154G>C4920ROR2Uncertain significancers1057515684RCV000350680|RCV000398130; NMONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:9736099471239994712399CGNC_000009.11:g.94712399C>GClinGen:CA10634111C0221357 Brachydactyly;
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