MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Craniofacial Abnormalities (D019465)
Parent Node:
expand
Dwarfism (D004392)
Parent Node:
expand
Joint Instability (D007593)
Parent Node:
expand
Ossification, Heterotopic (D009999)
Parent Node:
expand
Polydactyly (D017689)
..Starting node
..expand
Desbuquois syndrome (C535943)

       Child Nodes:



 Sister Nodes: 
..expandAbsence of tibia with polydactyly (C535564)
..expandBiemond syndrome II (C565902)
..expandBrachyphalangy, polydactyly, and tibial aplasia-hypoplasia (C537100)
..expandCortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..expandCrossed Polydactyly, Type I (C566783)
..expandDandy Walker malformation postaxial polydactyly (C535771)
..expandDesbuquois syndrome (C535943)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandGarret Tripp syndrome (C535646)
..expandHirschsprung disease polydactyly heart disease (C538120)
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..expandHoloprosencephaly 9 (C563659)
..expandHydrolethalus Syndrome 1 (C565504)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLaurence Prosser Rocker syndrome (C537882)
..expandLiver Fibrocystic Disease and Polydactyly (C565272)
..expandMaroteaux Fonfria syndrome (C536023)
..expandMcKusick Kaufman syndrome (C538159)
..expandMeckel Syndrome, Type 4 (C567003)
..expandMeckel-Like Cerebrorenodigital Syndrome (C567004)
..expandMegalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandMexican Cardiomelic Dysplasia (C563087)
..expandOliver Syndrome (C564931)
..expandPallister-Hall Syndrome (D054975)
..expandPfeiffer Mayer syndrome (C537888)
..expandPolydactyly myopia syndrome (C536331)
..expandPolydactyly preaxial type 1 (C536332)
..expandPolydactyly, Postaxial (C562429)
..expandPolydactyly, Postaxial, Type A2 (C566585)
..expandPolydactyly, Postaxial, Type A3 (C564590)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandPolydactyly, preaxial 4 (C536333)
..expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
..expandPolydactyly, Preaxial III (C566784)
..expandPolysyndactyly, Crossed (C566773)
..expandPreaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..expandPreaxial Hallucal Polydactyly (C566632)
..expandPseudotrisomy 13 syndrome (C535829)
..expandSantos Mateus Leal syndrome (C537235)
..expandSantos Syndrome (C567819)
..expandScalp defects postaxial polydactyly (C536622)
..expandShort Rib-Polydactyly Syndrome (D012779) Child3
..expandSPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandSynpolydactyly 2 (C564278)
..expandSynpolydactyly 3 (C565216)
..expandSynpolydactyly With Foot Anomalies (C566095)
..expandThai Symphalangism Syndrome (C564303)
..expandTibia absent polydactyly arachnoid cyst (C536918)
..expandTibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..expandTibia, Hypoplasia of, with Polydactyly (C566046)
..expandUlnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..expandUrioste Martinez-Frias syndrome (C536478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3595
Name:Desbuquois syndrome
Definition:
Alternative IDs:DO:DOID:0060462|OMIM:251450|OMIM:615777
ParentIDs:MESH:D004392|MESH:D007593|MESH:D009999|MESH:D017689|MESH:D019465
TreeNumbers:C05.116.099.343/C535943 |C05.550.521/C535943 |C05.660.207/C535943 |C05.660.585.600/C535943 |C16.131.621.207/C535943 |C16.131.621.585.600/C535943 |C16.320.240/C535943 |C19.297/C535943 |C23.550.751/C535943
Synonyms:DBQD1 |DBQD2 |Desbuquois Dysplasia |DESBUQUOIS DYSPLASIA 1 |DESBUQUOIS DYSPLASIA 2 |DESBUQUOIS SYNDROME |Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification |MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL A
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C535943
MeSH: C535943
OMIM: 251450;
MSeqDR LSDB:  
Genes: CANT1; XYLT1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004233Advanced ossification of carpal bones
3 HP:0008108Advanced tarsal ossification
4 HP:0009611Bifid distal phalanx of the thumb
5 HP:0001156Brachydactyly
6 HP:0006429Broad femoral neck
7 HP:0010068Broad first metatarsal
8 HP:0001087Congenital glaucoma
9 HP:0002673Coxa valga
10 HP:0002812Coxa vara
11 HP:0005280Depressed nasal bridge
12 HP:0008873Disproportionate short-limb short stature Congenital onset
13 HP:0003180Flat acetabular roof
14 HP:0003071Flattened epiphysis
15 HP:0001290Generalized hypotonia
16 HP:0002970Genu varum
17 HP:0003307Hyperlordosis
18 HP:0001249Intellectual disability
19 HP:0001388Joint laxity
20 HP:0002808Kyphosis
21 HP:0000272Malar flattening
22 HP:0008082Medial deviation of the foot
23 HP:0003016Metaphyseal widening
24 HP:0000308Microretrognathia
25 HP:0011800Midface retrusion
26 HP:0001270Motor delay
27 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
28 HP:0000545Myopia Late onset
29 HP:0000774Narrow chest
30 HP:0000160Narrow mouth
31 HP:0001513Obesity
32 HP:0002758Osteoarthritis
33 HP:0000939Osteoporosis
34 HP:0010097Partial duplication of the distal phalanx of the hallux
35 HP:0001763Pes planus
36 HP:0006243Phalangeal dislocation
37 HP:0000926Platyspondyly
38 HP:0000520Proptosis
39 HP:0005067Proximal fibular overgrowth
40 HP:0006439Radioulnar dislocation
41 HP:0000311Round face
42 HP:0001852Sandal gap
43 HP:0002650Scoliosis
44 HP:0003510Severe short stature Congenital onset
45 HP:0010034Short 1st metacarpal
46 HP:0100864Short femoral neck
47 HP:0010743Short metatarsal
48 HP:0000470Short neck
49 HP:0003196Short nose
50 HP:0001762Talipes equinovarus
51 HP:0003828Variable expressivity
52 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001159773.2(CANT1):c.*1794T>G124583CANT1Likely benignrs192546263RCV000319893; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698783876987838ACNC_000017.10:g.76987838A>CClinGen:CA10650334CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1732T>C124583CANT1Benignrs184171534RCV001127520; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698790076987900AG17:g.76987900A>G-
NM_001159773.2(CANT1):c.*1731C>T124583CANT1Uncertain significancers2070850838RCV001127521; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698790176987901GA17:g.76987901G>A-
NM_001159773.2(CANT1):c.*1484C>A124583CANT1Uncertain significancers886053519RCV000385625; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698814876988148GTNC_000017.10:g.76988148G>TClinGen:CA10646994CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1479C>A124583CANT1Uncertain significancers886053520RCV000293678; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698815376988153GTNC_000017.10:g.76988153G>TClinGen:CA10646995CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1476G>A124583CANT1Benignrs73999357RCV000332307; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698815676988156CTNC_000017.10:g.76988156C>TClinGen:CA10651187CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1440G>A124583CANT1Benignrs4861RCV000389226; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698819276988192CTNC_000017.10:g.76988192C>TClinGen:CA10651188CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1412A>G124583CANT1Uncertain significancers190318927RCV001123401; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698822076988220TC17:g.76988220T>C-
NM_001159773.2(CANT1):c.*1376C>G124583CANT1Likely benignrs139673784RCV000344846; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698825676988256GCNC_000017.10:g.76988256G>CClinGen:CA10651194CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1359C>T124583CANT1Uncertain significancers992643827RCV001123402; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698827376988273GA17:g.76988273G>A-
NM_001159773.2(CANT1):c.*1167G>A124583CANT1Uncertain significancers186436891RCV000291007; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698846576988465CTNC_000017.10:g.76988465C>TClinGen:CA10651197CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1153C>T124583CANT1Uncertain significancers1027724116RCV001123403; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698847976988479GA17:g.76988479G>A-
NM_001159773.2(CANT1):c.*1149C>T124583CANT1Benignrs114706748RCV001124505; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698848376988483GA17:g.76988483G>A-
NM_001159773.2(CANT1):c.*1093C>T124583CANT1Benignrs8078860RCV000339451; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698853976988539GANC_000017.10:g.76988539G>AClinGen:CA10651198CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1056T>C124583CANT1Benignrs77565945RCV000408102; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698857676988576AGNC_000017.10:g.76988576A>GClinGen:CA10646998CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*1050C>T124583CANT1Uncertain significancers1461824358RCV001124506; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698858276988582GA17:g.76988582G>A-
NM_001159773.2(CANT1):c.*1032G>T124583CANT1Uncertain significancers139951975RCV000304450; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698860076988600CANC_000017.10:g.76988600C>AClinGen:CA10646999CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*998G>C124583CANT1Uncertain significancers78037898RCV000361463; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698863476988634CGNC_000017.10:g.76988634C>GClinGen:CA10640788CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*998G>T124583CANT1Likely benignrs78037898RCV001124507; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698863476988634CA17:g.76988634C>A-
NM_001159773.2(CANT1):c.*964A>G124583CANT1Benignrs75126416RCV000408111; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698866876988668TCNC_000017.10:g.76988668T>CClinGen:CA8808422CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*919C>G124583CANT1Uncertain significancers777105575RCV000298347; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698871376988713GCNC_000017.10:g.76988713G>CClinGen:CA8808426CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*876G>A124583CANT1Uncertain significancers551101097RCV000355573; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698875676988756CTNC_000017.10:g.76988756C>TClinGen:CA8808430CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*847C>T124583CANT1Benignrs11891RCV000263191; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698878576988785GA17:g.76988785G>AClinGen:CA8808436CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*837C>T124583CANT1Uncertain significancers781025439RCV001125515; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698879576988795GA17:g.76988795G>A-
NM_001159773.2(CANT1):c.*829G>A124583CANT1Benignrs115856545RCV000331438; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698880376988803CT17:g.76988803C>TClinGen:CA8808443CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*813G>C124583CANT1Uncertain significancers535754990RCV000369756; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698881976988819CG17:g.76988819C>GClinGen:CA8808450CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*781C>A124583CANT1Uncertain significancers764123397RCV001125516; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698885176988851GT17:g.76988851G>T-
NM_001159773.2(CANT1):c.*753C>A124583CANT1Uncertain significancers745568057RCV000277458; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698887976988879GT17:g.76988879G>TClinGen:CA10640800CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*748T>A124583CANT1Uncertain significancers748455061RCV001127616; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698888476988884AT17:g.76988884A>T-
NM_001159773.2(CANT1):c.*696T>G124583CANT1Likely benignrs149991908RCV001127617; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698893676988936AC17:g.76988936A>C-
NM_001159773.2(CANT1):c.*671T>C124583CANT1Benignrs114125762RCV000325545; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698896176988961AGNC_000017.10:g.76988961A>GClinGen:CA10651204CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*664T>C124583CANT1Benignrs79189369RCV000382670; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698896876988968AGNC_000017.10:g.76988968A>GClinGen:CA10640802CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*570G>A124583CANT1Benignrs8079368RCV000290520; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698906276989062CTNC_000017.10:g.76989062C>TClinGen:CA10651205CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*569C>T124583CANT1Uncertain significancers2070889534RCV001127618; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698906376989063GA17:g.76989063G>A-
NM_001159773.2(CANT1):c.*550A>C124583CANT1Uncertain significancers886053522RCV000329272; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698908276989082TGNC_000017.10:g.76989082T>GClinGen:CA10650335CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*450A>G124583CANT1Uncertain significancers886053523RCV000376871; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698918276989182TCNC_000017.10:g.76989182T>CClinGen:CA10640805CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*445G>A124583CANT1Uncertain significancers149131650RCV000284804; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698918776989187CTNC_000017.10:g.76989187C>TClinGen:CA10647004CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*374C>T124583CANT1Uncertain significancers560554427RCV001123517; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698925876989258GA17:g.76989258G>A-
NM_001159773.2(CANT1):c.*352G>A124583CANT1Uncertain significancers766546218RCV001123518; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698928076989280CT17:g.76989280C>T-
NM_001159773.2(CANT1):c.*301C>T124583CANT1Uncertain significancers576222698RCV000342162; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698933176989331GANC_000017.10:g.76989331G>AClinGen:CA10647007CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*223C>T124583CANT1Uncertain significancers886053524RCV000400549; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698940976989409GANC_000017.10:g.76989409G>AClinGen:CA10650339CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*174G>A124583CANT1Uncertain significancers544997912RCV000278200; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698945876989458CTNC_000017.10:g.76989458C>TClinGen:CA10650340CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*163C>G124583CANT1Uncertain significancers529224814RCV001123519; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698946976989469GC17:g.76989469G>C-
NM_001159773.2(CANT1):c.*157G>A124583CANT1Likely benignrs117904862RCV001123520; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698947576989475CT17:g.76989475C>T-
NM_001159773.2(CANT1):c.*119G>A124583CANT1Uncertain significancers2070902561RCV001124604; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698951376989513CT17:g.76989513C>T-
NM_001159773.2(CANT1):c.*89G>A124583CANT1Uncertain significancers146866436RCV000335554; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698954376989543CTNC_000017.10:g.76989543C>TClinGen:CA10640808CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*57G>A124583CANT1Uncertain significancers886053525RCV000391197; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698957576989575CTNC_000017.10:g.76989575C>TClinGen:CA10650341CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.*24G>A124583CANT1Uncertain significancers760356756RCV001124605; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698960876989608CT17:g.76989608C>T-
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)124583CANT1Conflicting interpretations of pathogenicityrs34082669RCV000426567|RCV001124606; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698966676989666CT17:g.76989666C>TClinGen:CA8808495CN169374 not specified;
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=)124583CANT1Benign/Likely benignrs145794847RCV000975988|RCV001124607; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698968676989686CG17:g.76989686C>G-
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu)124583CANT1Benign/Likely benignrs139486406RCV000354549|RCV000893166|RCV001124608; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698971576989715TA17:g.76989715T>AClinGen:CA8808510CN169374 not specified;
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val)124583CANT1Conflicting interpretations of pathogenicityrs372631124RCV000662006|RCV000662007|RCV001855396; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MONDO:MONDO:0054680,MedGen:C4540251,OMIM:617719|MedGen:CN517202177698972676989726GA17:g.76989726G>A-C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp)124583CANT1Pathogenicrs387907081RCV000024011; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698975976989759GT17:g.76989759G>TClinGen:CA129625,UniProtKB:Q8WVQ1#VAR_068662,OMIM:613165.0014C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=)124583CANT1Benignrs3803781RCV000300382|RCV001513120; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177698978276989782GANC_000017.10:g.76989782G>AClinGen:CA8808528CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.969C>T (p.Ala323=)124583CANT1Conflicting interpretations of pathogenicityrs751735028RCV000881262|RCV001125603; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698986976989869GA17:g.76989869G>A-
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr)124583CANT1Benign/Likely benignrs9903215RCV000366789|RCV000514295; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177698987176989871CTNC_000017.10:g.76989871C>TClinGen:CA8808552,UniProtKB:Q8WVQ1#VAR_068661CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.948C>T (p.Gly316=)124583CANT1Uncertain significancers556238561RCV001125604; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698989076989890GA17:g.76989890G>A-
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys)124583CANT1Uncertain significancers569632479RCV000391189; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698992276989922GANC_000017.10:g.76989922G>AClinGen:CA8808564CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs)124583CANT1Pathogenicrs587776510RCV000000305; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698992876989929GGGCGGCNC_000017.10:g.76989930_76989931insGGCGCOMIM:613165.0005,ClinGen:CA114111C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)124583CANT1Pathogenicrs587776895RCV000024005|RCV000726652; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177698993176989932TTGGCGC17:g.76989931_76989932insGGCGCClinGen:CA129619,OMIM:613165.0008C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.899G>A (p.Arg300His)124583CANT1Pathogenicrs267606699RCV000000304; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698993976989939CT17:g.76989939C>TClinGen:CA114110,UniProtKB:Q8WVQ1#VAR_062982,OMIM:613165.0004C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)124583CANT1Pathogenicrs267606701RCV000000303|RCV000623362; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MeSH:D030342,MedGen:C0950123177698994076989940GA17:g.76989940G>AClinGen:CA114109,UniProtKB:Q8WVQ1#VAR_062981,OMIM:613165.0003C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)124583CANT1Pathogenicrs267606700RCV000000307; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177698994276989942GA17:g.76989942G>AClinGen:CA114114,UniProtKB:Q8WVQ1#VAR_062980,OMIM:613165.0007C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.836-9G>A124583CANT1Pathogenic/Likely pathogenicrs538543007RCV000178383|RCV001775089; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699001176990011CT17:g.76990011C>TClinGen:CA202841C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.835+10G>C124583CANT1Uncertain significancers779296231RCV000314281; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699109076991090CGNC_000017.10:g.76991090C>GClinGen:CA10640810CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.835+6A>G124583CANT1Uncertain significancers375082589RCV001125605|RCV001862905; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699109476991094TC17:g.76991094T>C-
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu)124583CANT1Uncertain significancers774920895RCV000371390|RCV001850742; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699110576991105GANC_000017.10:g.76991105G>AClinGen:CA8808601CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.819C>T (p.Ala273=)124583CANT1Conflicting interpretations of pathogenicityrs571979064RCV000933910|RCV001125606; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699111676991116GA17:g.76991116G>A-
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln)124583CANT1Uncertain significancers764240311RCV000269810; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699112676991126CTNC_000017.10:g.76991126C>TClinGen:CA8808606CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.780G>T (p.Glu260Asp)124583CANT1Uncertain significancers1438123632RCV001332905; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699115576991155CA76991155-
NM_001159773.2(CANT1):c.735G>A (p.Pro245=)124583CANT1Conflicting interpretations of pathogenicityrs138754148RCV000909623|RCV001127699; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699120076991200CT17:g.76991200C>T-
NM_001159773.2(CANT1):c.734del (p.Pro245fs)124583CANT1Pathogenicrs587776509RCV000000302; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699120176991201CGC17:g.76991201_76991201delClinGen:CA114108,OMIM:613165.0002C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.702G>A (p.Thr234=)124583CANT1Uncertain significancers1023756732RCV001127700; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699123376991233CT17:g.76991233C>T-
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)124583CANT1Pathogenicrs377546036RCV000024010|RCV000509573|RCV001380267; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MONDO:MONDO:0054680,MedGen:C4540251,OMIM:617719|MedGen:CN517202177699125976991259CT17:g.76991259C>TClinGen:CA129624,UniProtKB:Q8WVQ1#VAR_068659,OMIM:613165.0013C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)124583CANT1Pathogenicrs150181226RCV000024008|RCV001781310; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699126476991264AG17:g.76991264A>GClinGen:CA129622,UniProtKB:Q8WVQ1#VAR_068658,OMIM:613165.0011C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter)124583CANT1Uncertain significancers773215035RCV000778522; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699129276991292CANC_000017.10:g.76991292C>A-
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys)124583CANT1Pathogenic/Likely pathogenicrs773215035RCV000996613|RCV001260984; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699129276991292CT17:g.76991292C>TOMIM:613165.0017
NM_001159773.2(CANT1):c.631+11C>A124583CANT1Uncertain significance-1RCV001843997; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699306376993063GT76993063-
NM_001159773.2(CANT1):c.627G>T (p.Glu209Asp)124583CANT1Uncertain significancers2071055518RCV001333524; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699307876993078CA76993078-
NM_001159773.2(CANT1):c.570C>T (p.Ile190=)124583CANT1Conflicting interpretations of pathogenicityrs376733332RCV001127701|RCV001412014; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699313576993135GA17:g.76993135G>A-
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile)124583CANT1Conflicting interpretations of pathogenicityrs199516699RCV000308295|RCV002056640; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699314976993149CTNC_000017.10:g.76993149C>TClinGen:CA8808709CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.552G>A (p.Thr184=)124583CANT1Uncertain significancers762438787RCV001127702|RCV001856663; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699315376993153CT17:g.76993153C>T-
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met)124583CANT1Conflicting interpretations of pathogenicityrs770371904RCV000626284|RCV001860476; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699315476993154GA17:g.76993154G>AClinGen:CA8808711C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met)124583CANT1Uncertain significancers201181440RCV001127703; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699319276993192AC17:g.76993192A>C-
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu)124583CANT1Conflicting interpretations of pathogenicityrs140112462RCV000365329|RCV000729124|RCV001516452; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN169374|MedGen:CN517202177699327276993272CANC_000017.10:g.76993272C>AClinGen:CA8808732CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys)124583CANT1Pathogenicrs587776898RCV000024009; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699333076993330CG17:g.76993330C>GClinGen:CA129623,UniProtKB:Q8WVQ1#VAR_068656,OMIM:613165.0012C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter)124583CANT1Pathogenicrs267606702RCV000000306; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699333176993331CT17:g.76993331C>TClinGen:CA114112,OMIM:613165.0006C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu)124583CANT1Uncertain significancers375718883RCV000273259; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699341876993418GANC_000017.10:g.76993418G>AClinGen:CA10651215CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)124583CANT1Pathogenicrs587776897RCV000024007|RCV000622333|RCV000724659; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MeSH:D030342,MedGen:C0950123|MedGen:CN517202177699342776993428CAGC17:g.76993427_76993428delClinGen:CA129621,OMIM:613165.0010C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val)124583CANT1Uncertain significancers773784258RCV001123608; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699343976993439TA17:g.76993439T>A-
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro)124583CANT1Uncertain significancers767659113RCV000321258; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699345576993455CGNC_000017.10:g.76993455C>GClinGen:CA10651217CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.246G>A (p.Ala82=)124583CANT1Uncertain significancers567995164RCV001123609; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699345976993459CT17:g.76993459C>T-
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)124583CANT1Pathogenic/Likely pathogenicrs587776896RCV000024006|RCV001852562; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699347676993477AAG17:g.76993476_76993477insGClinGen:CA129620,OMIM:613165.0009C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.198C>T (p.Pro66=)124583CANT1Benign/Likely benignrs201935694RCV000970328|RCV001123610; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699350776993507GA17:g.76993507G>A-
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val)124583CANT1Benign/Likely benignrs200811852RCV000970329|RCV001123611; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699351176993511GA17:g.76993511G>A-
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser)124583CANT1Uncertain significancers760657405RCV001123612; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699351876993518GT17:g.76993518G>T-
NM_001159773.2(CANT1):c.159T>C (p.Ala53=)124583CANT1Benignrs8077024RCV000175967|RCV000377921|RCV001514727; NMedGen:CN169374|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699354676993546AG17:g.76993546A>GClinGen:CA201720CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.147C>T (p.Phe49=)124583CANT1Conflicting interpretations of pathogenicityrs371500993RCV000924641|RCV001124685; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699355876993558GA17:g.76993558G>A-
NM_001159773.2(CANT1):c.125G>A (p.Arg42His)124583CANT1Uncertain significancers886053526RCV000267013; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699358076993580CTNC_000017.10:g.76993580C>TClinGen:CA10650344CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.119G>A (p.Arg40His)124583CANT1Uncertain significancers375819727RCV001124686|RCV001811666; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699358676993586CT17:g.76993586C>T-
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly)124583CANT1Uncertain significancers886053527RCV000324362; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699364476993644TCNC_000017.10:g.76993644T>CClinGen:CA10651218CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)124583CANT1Conflicting interpretations of pathogenicityrs144060377RCV000372057|RCV000724946; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699364976993649CT17:g.76993649C>TClinGen:CA8808832CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.54C>T (p.Leu18=)124583CANT1Uncertain significancers2071085962RCV001124687; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699365176993651GA17:g.76993651G>A-
NM_001159773.2(CANT1):c.-22-34C>G124583CANT1Uncertain significancers886053528RCV000280010; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699376076993760GCNC_000017.10:g.76993760G>CClinGen:CA10651221CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-23+94T>G124583CANT1Uncertain significancers867691817RCV000337348; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699382876993828ACNC_000017.10:g.76993828A>CClinGen:CA10651223CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-23+79T>C124583CANT1Uncertain significancers548338706RCV000375714; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699384376993843AGNC_000017.10:g.76993843A>GClinGen:CA10640813CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-23+60A>G124583CANT1Uncertain significancers2071093869RCV001125691; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699386276993862TC17:g.76993862T>C-
NM_001159773.2(CANT1):c.-23+39G>A124583CANT1Uncertain significancers886053529RCV000292994; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699388376993883CTNC_000017.10:g.76993883C>TClinGen:CA10651225CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-23+25G>A124583CANT1Benignrs3744171RCV000350879|RCV001539881; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177699389776993897CTNC_000017.10:g.76993897C>TClinGen:CA10651226CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-23+7A>G124583CANT1Uncertain significancers1332415937RCV001125692; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699391576993915TC17:g.76993915T>C-
NM_001159773.2(CANT1):c.-81G>A124583CANT1Uncertain significancers886053530RCV000399866; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699398076993980CTNC_000017.10:g.76993980C>TClinGen:CA10640817CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-96C>T124583CANT1Likely benignrs143084065RCV000306411; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699399576993995GANC_000017.10:g.76993995G>AClinGen:CA10650347CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-127C>A124583CANT1Uncertain significancers868277630RCV000344910; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699402676994026GTNC_000017.10:g.76994026G>TClinGen:CA10640819CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-146-15C>T124583CANT1Uncertain significancers886053531RCV000407453; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177699406076994060GANC_000017.10:g.76994060G>AClinGen:CA10640825CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-147+1G>A124583CANT1Pathogenicrs587776951RCV000034325; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177700574577005745CT17:g.77005745C>TClinGen:CA130841,OMIM:613165.0015C4012146 251450 Desbuquois dysplasia 1;
NM_001159773.2(CANT1):c.-153G>T124583CANT1Benignrs531435158RCV000309871; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177700575277005752CANC_000017.10:g.77005752C>AClinGen:CA10650350CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-164G>A124583CANT1Uncertain significancers886053532RCV000357528; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177700576377005763CTNC_000017.10:g.77005763C>TClinGen:CA10651227CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-202A>C124583CANT1Uncertain significancers377716176RCV000265205; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177700580177005801TGNC_000017.10:g.77005801T>GClinGen:CA10647010CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-233C>T124583CANT1Uncertain significancers886053533RCV000304375; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425177700583277005832GANC_000017.10:g.77005832G>AClinGen:CA10647012CN239270 Desbuquois Dysplasia;
NM_001159773.2(CANT1):c.-239A>G124583CANT1Benignrs12949479RCV000361375|RCV001613051; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202177700583877005838TCNC_000017.10:g.77005838T>CClinGen:CA10650354CN239270 Desbuquois Dysplasia;
NC_000016.9:g.(?_15758636)_(17564653_?)dup64131XYLT1Uncertain significance-1RCV001919069; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161575863617564653nana-1-
NC_000016.10:g.(?_17108675)_(17470816_?)del64131XYLT1Pathogenic-1RCV000652128; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720253217564673nana-C4012146 251450 Desbuquois dysplasia 1;
NC_000016.9:g.(?_17202552)_(17451927_?)dup64131XYLT1Uncertain significance-1RCV001997156; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720255217451927nana-1-
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln)64131XYLT1Uncertain significance-1RCV001923750; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720256217202562CT17202562-
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=)64131XYLT1Likely benign-1RCV001432894; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720256717202567AG17202567-
NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr)64131XYLT1Uncertain significancers780303292RCV001306041; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720262317202623CT17202623-
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser)64131XYLT1Uncertain significancers1348422483RCV001305527; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720262617202626TA17202626-
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=)64131XYLT1Likely benign-1RCV001956295; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720264817202648CT17202648-
NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu)64131XYLT1Uncertain significance-1RCV001887163; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720264917202649GA17202649-
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=)64131XYLT1Uncertain significancers371058087RCV001337159; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720266617202666CT17202666-
NM_022166.4(XYLT1):c.2766G>C (p.Thr922=)64131XYLT1Likely benign-1RCV001506347; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720266617202666CG17202666-
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=)64131XYLT1Likely benign-1RCV001503692; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720273817202738CT17202738-
NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met)64131XYLT1Uncertain significance-1RCV001887510; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720273917202739GA17202739-
NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe)64131XYLT1Uncertain significance-1RCV001978575; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720274217202742GA17202742-
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln)64131XYLT1Benign-1RCV001519012|RCV001615203; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161720275717202757CT17202757-
NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg)64131XYLT1Uncertain significance-1RCV001921502; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720276317202763TC17202763-
NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln)64131XYLT1Uncertain significance-1RCV001993854; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720276717202767CG17202767-
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser)64131XYLT1Benignrs143481827RCV000960508; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720277617202776CA16:g.17202776C>A-
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=)64131XYLT1Benignrs924260RCV000844578|RCV001519013; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720277717202777GA16:g.17202777G>A-
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)64131XYLT1Benign-1RCV001517254|RCV001712927; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161720280117202801GA17202801-
NM_022166.4(XYLT1):c.2619G>C (p.Gln873His)64131XYLT1Uncertain significance-1RCV002022318; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720281317202813CG17202813-
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)64131XYLT1Likely benign-1RCV001446159; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720287117202871TG17202871-
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys)64131XYLT1Uncertain significance-1RCV001909239; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720287217202872CT17202872-
NM_022166.4(XYLT1):c.2558-18G>A64131XYLT1Likely benign-1RCV002120498; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161720289217202892CT17202892-
NM_022166.4(XYLT1):c.2557+16G>T64131XYLT1Likely benign-1RCV002126274; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721148717211487CA17211487-
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln)64131XYLT1Uncertain significance-1RCV001925485; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721150317211503CG17211503-
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg)64131XYLT1Uncertain significance-1RCV001999156; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721150517211505GC17211505-
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=)64131XYLT1Likely benign-1RCV001443376; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721152517211525CG17211525-
NM_022166.4(XYLT1):c.2520G>A (p.Ala840=)64131XYLT1Likely benign-1RCV002145887; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721154017211540CT17211540-
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile)64131XYLT1Benign-1RCV001521050|RCV001685404; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161721154517211545CT17211545-
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile)64131XYLT1Uncertain significancers372741635RCV001344637; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721155617211556GA17211556-
NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp)64131XYLT1Uncertain significance-1RCV002049350; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721155817211558CG17211558-
NM_022166.4(XYLT1):c.2467G>A (p.Val823Met)64131XYLT1Uncertain significance-1RCV002038326; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721159317211593CT17211593-
NM_022166.4(XYLT1):c.2466A>G (p.Thr822=)64131XYLT1Likely benign-1RCV002188855; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721159417211594TC17211594-
NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg)64131XYLT1Uncertain significance-1RCV001887407; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721159517211595GC17211595-
NM_022166.4(XYLT1):c.2457G>T (p.Gly819=)64131XYLT1Likely benign-1RCV002123885; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721160317211603CA17211603-
NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe)64131XYLT1Likely benign-1RCV002151117; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721161817211618CA17211618-
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=)64131XYLT1Likely benign-1RCV001405087; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721163017211630GA17211630-
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys)64131XYLT1Uncertain significance-1RCV001994223; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721164317211643GT17211643-
NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val)64131XYLT1Uncertain significance-1RCV001920695; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721168217211682GA17211682-
NM_022166.4(XYLT1):c.2370C>A (p.Val790=)64131XYLT1Benignrs74750647RCV000959254; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721169017211690GT16:g.17211690G>T-
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=)64131XYLT1Benign-1RCV002159174; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721170217211702AG17211702-
NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile)64131XYLT1Uncertain significancers778581218RCV001295610; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721171617211716CT17211716-
NM_022166.4(XYLT1):c.2338G>A (p.Val780Met)64131XYLT1Uncertain significance-1RCV001973096; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721172217211722CT17211722-
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=)64131XYLT1Likely benign-1RCV002218232; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721172317211723GT17211723-
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=)64131XYLT1Benign-1RCV001521051|RCV001655780; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161721172917211729AG17211729-
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr)64131XYLT1Uncertain significancers2029899993RCV001299710; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721175417211754AG17211754-
NM_022166.4(XYLT1):c.2298G>A (p.Pro766=)64131XYLT1Likely benign-1RCV001459332; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721176217211762CT17211762-
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala)64131XYLT1Benign-1RCV001521948; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721176417211764GC17211764-
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys)64131XYLT1Uncertain significance-1RCV001989448; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721180017211800GA17211800-
NM_022166.4(XYLT1):c.2226C>T (p.Val742=)64131XYLT1Benignrs139693964RCV000887884; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721183417211834GA16:g.17211834G>A-
NM_022166.4(XYLT1):c.2224-4T>A64131XYLT1Likely benignrs749488472RCV000981566; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721184017211840AT16:g.17211840A>T-
NM_022166.4(XYLT1):c.2224-7G>C64131XYLT1Likely benign-1RCV001430309; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721184317211843CG17211843-
NM_022166.4(XYLT1):c.2224-9_2224-8del64131XYLT1Likely benign-1RCV002144575; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161721184417211845CAGC17211843-
NM_022166.4(XYLT1):c.2224-12C>T64131XYLT1Benign-1RCV001522655|RCV001655787; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161721184817211848GA17211848-
NM_022166.4(XYLT1):c.2223+10C>T64131XYLT1Likely benignrs750355184RCV000936036|RCV001417096; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722151317221513GA16:g.17221513G>A-
NM_022166.4(XYLT1):c.2223+6A>C64131XYLT1Uncertain significance-1RCV001971030; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722151717221517TG17221517-
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile)64131XYLT1Uncertain significance-1RCV002041258; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722153717221537GT17221537-
NM_022166.4(XYLT1):c.2163G>A (p.Pro721=)64131XYLT1Likely benign-1RCV002149582; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722158317221583CT17221583-
NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln)64131XYLT1Uncertain significancers767151460RCV001319617; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722158417221584GT17221584-
NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn)64131XYLT1Uncertain significance-1RCV001370594; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722161717221617CT17221617-
NM_022166.4(XYLT1):c.2127G>C (p.Val709=)64131XYLT1Likely benignrs1597137187RCV000975747|RCV001433727; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722161917221619CG16:g.17221619C>G-
NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser)64131XYLT1Uncertain significance-1RCV001962566; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722162917221629TC17221629-
NM_022166.4(XYLT1):c.2088G>T (p.Gln696His)64131XYLT1Uncertain significance-1RCV001992194; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722165817221658CA17221658-
NM_022166.4(XYLT1):c.2081G>A (p.Arg694His)64131XYLT1Likely benign-1RCV001434503; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722166517221665CT17221665-
NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser)64131XYLT1Uncertain significance-1RCV001879528; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722167717221677AG17221677-
NM_022166.4(XYLT1):c.2028-14G>A64131XYLT1Likely benign-1RCV002199653; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722173217221732CT17221732-
NM_022166.4(XYLT1):c.2028-15C>T64131XYLT1Benign-1RCV002172314; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722173317221733GA17221733-
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=)64131XYLT1Likely benignrs150492983RCV000652127; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722835017228350CTNC_000016.9:g.17228350C>TClinGen:CA7927703C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.2004C>T (p.His668=)64131XYLT1Likely benign-1RCV002149067; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722835317228353GA17228353-
NM_022166.4(XYLT1):c.1995G>A (p.Thr665=)64131XYLT1Likely benign-1RCV002209833; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722836217228362CT17228362-
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)64131XYLT1Benign-1RCV001522788|RCV001813826; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161722836317228363GA17228363-
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys)64131XYLT1Uncertain significancers573652692RCV000820763; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722836717228367CT16:g.17228367C>T-
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)64131XYLT1Benign-1RCV001519014|RCV001692421; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161722836817228368GA17228368-
NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln)64131XYLT1Uncertain significance-1RCV001877712; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722837217228372CT17228372-
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln)64131XYLT1Uncertain significancers1275156523RCV000808439; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722837517228375CT16:g.17228375C>T-
NM_022166.4(XYLT1):c.1970G>A (p.Arg657His)64131XYLT1Uncertain significancers748655641RCV001327483; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722838717228387CT17228387-
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=)64131XYLT1Likely benign-1RCV001396767; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722840417228404CT17228404-
NM_022166.4(XYLT1):c.1939G>A (p.Val647Met)64131XYLT1Uncertain significancers756272760RCV001337927; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722841817228418CT17228418-
NM_022166.4(XYLT1):c.1938C>T (p.Asp646=)64131XYLT1Likely benign-1RCV001438217; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722841917228419GA17228419-
NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn)64131XYLT1Uncertain significance-1RCV001365078; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722842117228421CT17228421-
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=)64131XYLT1Benign-1RCV001516784; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722842217228422GA17228422-
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met)64131XYLT1Uncertain significance-1RCV001882991; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722842717228427GT17228427-
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser)64131XYLT1Benignrs146288199RCV000966430; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722843917228439CT16:g.17228439C>T-
NM_022166.4(XYLT1):c.1917C>T (p.Asp639=)64131XYLT1Likely benign-1RCV002086134; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722844017228440GA17228440-
NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=)64131XYLT1Likely benign-1RCV001422054; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722845217228452GA17228452-
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=)64131XYLT1Likely benign-1RCV001399293; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722848217228482CT17228482-
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=)64131XYLT1Benign-1RCV001513808; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722850317228503CA17228503-
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=)64131XYLT1Benign-1RCV002087993; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722850917228509CG17228509-
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys)64131XYLT1Likely benign-1RCV002141783; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722851617228516TC17228516-
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr)64131XYLT1Uncertain significance-1RCV001936380; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722853117228531AG17228531-
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr)64131XYLT1Uncertain significancers770446499RCV000805928; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722854417228544TA16:g.17228544T>A-
NM_022166.4(XYLT1):c.1807G>A (p.Val603Met)64131XYLT1Uncertain significance-1RCV001864100; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722855017228550CT17228550-
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)64131XYLT1Uncertain significancers587777367RCV000115034|RCV001227279; NMONDO:MONDO:0014343,MedGen:C4014294,OMIM:615777, Orphanet:1425|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722856517228565GANC_000016.9:g.17228565G>AClinGen:CA151424,UniProtKB:Q86Y38#VAR_071274,OMIM:608124.0003C4014294 615777 Desbuquois dysplasia 2;
NM_022166.4(XYLT1):c.1765-3C>T64131XYLT1Conflicting interpretations of pathogenicityrs192023037RCV000597028|RCV001499747; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161722859517228595GA16:g.17228595G>AClinGen:CA7927770CN169374 not specified;
NM_022166.4(XYLT1):c.1764+19C>T64131XYLT1Likely benign-1RCV002146478; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723219317232193GA17232193-
NM_022166.4(XYLT1):c.1764+11C>G64131XYLT1Likely benign-1RCV002111466; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723220117232201GC17232201-
NM_022166.4(XYLT1):c.1764+4A>G64131XYLT1Uncertain significance-1RCV001918572; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723220817232208TC17232208-
NM_022166.4(XYLT1):c.1764+3G>A64131XYLT1Uncertain significancers147978944RCV001325694; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723220917232209CT17232209-
NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg)64131XYLT1Uncertain significance-1RCV001891681; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723221317232213TC17232213-
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys)64131XYLT1Uncertain significancers139179946RCV000694844|RCV000765257; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MONDO:MONDO:0014343,MedGen:C4014294,OMIM:615777, Orphanet:1425; MONDO:MONDO:0009925,MedGen:C0033847,OMIM:264800, Orphanet:758161723222017232220GANC_000016.9:g.17232220G>A-C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn)64131XYLT1Uncertain significancers770094750RCV001232492; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723222917232229CT16:g.17232229C>T-
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=)64131XYLT1Benignrs34653270RCV000973807; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723223317232233CT16:g.17232233C>T-
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu)64131XYLT1Likely benignrs146414934RCV000887717; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723223417232234GA16:g.17232234G>A-
NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser)64131XYLT1Uncertain significancers368060072RCV001319858; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723224617232246TC17232246-
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser)64131XYLT1Uncertain significance-1RCV001888014; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723225917232259CT17232259-
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=)64131XYLT1Likely benignrs765001631RCV000907124; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723226017232260GA16:g.17232260G>A-
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=)64131XYLT1Likely benignrs139802880RCV000967693; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723227217232272GA16:g.17232272G>A-
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=)64131XYLT1Likely benignrs143303539RCV000978534; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723229017232290CT16:g.17232290C>T-
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys)64131XYLT1Uncertain significance-1RCV001964346; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723230717232307GA17232307-
NM_022166.4(XYLT1):c.1638G>A (p.Val546=)64131XYLT1Uncertain significance-1RCV001876929; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723233817232338CT17232338-
NM_022166.4(XYLT1):c.1633A>G (p.Met545Val)64131XYLT1Uncertain significance-1RCV001772540|RCV002034470; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723234317232343TC17232343-
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=)64131XYLT1Likely benign-1RCV001435924; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723234717232347GA17232347-
NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn)64131XYLT1Uncertain significance-1RCV001933298; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723234917232349CT17232349-
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=)64131XYLT1Benignrs377097003RCV000971195; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723235017232350GA16:g.17232350G>A-
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly)64131XYLT1Uncertain significancers200053698RCV001206277; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723236117232361TC16:g.17232361T>C-
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=)64131XYLT1Likely benignrs138560456RCV000892791; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723237417232374CT16:g.17232374C>T-
NM_022166.4(XYLT1):c.1590C>T (p.Ser530=)64131XYLT1Likely benign-1RCV002128229; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723238617232386GA17232386-
NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala)64131XYLT1Uncertain significance-1RCV001366851; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723238817232388AC17232388-
NM_022166.4(XYLT1):c.1588-28_1588-3dup64131XYLT1Benignrs545474455RCV000964350|RCV001521180; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723239017232391TTGCAGGGGAGAGAGGGACCCAGCCTGA16:g.17232390_17232391insGCAGGGGAGAGAGGGACCCAGCCTGA-
NM_022166.4(XYLT1):c.1588-3C>T64131XYLT1Likely benignrs201818754RCV000115037|RCV000960539|RCV001553443; NMONDO:MONDO:0014343,MedGen:C4014294,OMIM:615777, Orphanet:1425|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161723239117232391GA16:g.17232391G>AClinGen:CA151428,OMIM:608124.0006C4014294 615777 Desbuquois dysplasia 2;
NM_022166.4(XYLT1):c.1588-9C>A64131XYLT1Uncertain significance-1RCV002010077; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723239717232397GT17232397-
NM_022166.4(XYLT1):c.1588-35_1588-19del64131XYLT1Likely benign-1RCV002097940; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723240717232423ACCCAGCCTGAGACCTCTA17232406-
NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg)64131XYLT1Uncertain significance-1RCV002014080; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723505017235050TC17235050-
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr)64131XYLT1Uncertain significance-1RCV002036849; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723506317235063CA17235063-
NM_022166.4(XYLT1):c.1533C>T (p.Asp511=)64131XYLT1Likely benign-1RCV002104030; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723506417235064GA17235064-
NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn)64131XYLT1Uncertain significance-1RCV001983696; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723507717235077GT17235077-
NM_022166.4(XYLT1):c.1518G>A (p.Val506=)64131XYLT1Likely benign-1RCV001484004; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723507917235079CT17235079-
NM_022166.4(XYLT1):c.1479G>A (p.Ser493=)64131XYLT1Uncertain significance-1RCV001965398; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723511817235118CT17235118-
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser)64131XYLT1Uncertain significance-1RCV001914604; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723512317235123CT17235123-
NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln)64131XYLT1Uncertain significance-1RCV002048273; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723515217235152CT17235152-
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys)64131XYLT1Uncertain significancers1180844430RCV001322964|RCV001529171; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161723516817235168GA17235168-
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu)64131XYLT1Uncertain significancers371420301RCV001295114; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723518117235181GC17235181-
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=)64131XYLT1Likely benign-1RCV001501808; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723518117235181GA17235181-
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=)64131XYLT1Likely benign-1RCV002169873; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723518417235184GA17235184-
NM_022166.4(XYLT1):c.1371-5C>T64131XYLT1Likely benignrs779582063RCV000896819|RCV001481347; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161723523117235231GA16:g.17235231G>A-
NM_022166.4(XYLT1):c.1370+5C>T64131XYLT1Uncertain significance-1RCV002019960; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725268117252681GA17252681-
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln)64131XYLT1Uncertain significance-1RCV001371178; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725269817252698CT17252698-
NM_022166.4(XYLT1):c.1353C>T (p.His451=)64131XYLT1Likely benign-1RCV001481987; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725270317252703GA17252703-
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter)64131XYLT1Pathogenicrs1164720535RCV001231569; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725273517252735GA16:g.17252735G>A-
NM_022166.4(XYLT1):c.1311G>A (p.Ala437=)64131XYLT1Likely benign-1RCV002217744; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725274517252745CT17252745-
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val)64131XYLT1Uncertain significance-1RCV001373101; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725274617252746GA17252746-
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu)64131XYLT1Likely benignrs147074504RCV000967660; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725275717252757GT16:g.17252757G>T-
NM_022166.4(XYLT1):c.1290-6C>T64131XYLT1Likely benign-1RCV002198664; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161725277217252772GA17252772-
NM_022166.4(XYLT1):c.1289+13A>G64131XYLT1Benign-1RCV002149856; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729205617292056TC17292056-
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=)64131XYLT1Benign-1RCV001522414|RCV001655785; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161729207417292074GC17292074-
NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn)64131XYLT1Uncertain significance-1RCV002017082; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729208217292082CT17292082-
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=)64131XYLT1Benignrs144531370RCV000535388; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729208617292086CT16:g.17292086C>TClinGen:CA7927976C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr)64131XYLT1Uncertain significance-1RCV001994216; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729209917292099AG17292099-
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile)64131XYLT1Uncertain significance-1RCV001368935; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729210617292106AT17292106-
NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn)64131XYLT1Uncertain significancers774302454RCV001320713; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729212117292121CT17292121-
NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val)64131XYLT1Uncertain significance-1RCV002022417; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729212917292129TA17292129-
NM_022166.4(XYLT1):c.1227G>A (p.Leu409=)64131XYLT1Likely benign-1RCV001475107; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729213117292131CT17292131-
NM_022166.4(XYLT1):c.1225C>T (p.Leu409=)64131XYLT1Likely benign-1RCV002151046; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729213317292133GA17292133-
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln)64131XYLT1Uncertain significancers1457612277RCV000652126; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729214117292141CT16:g.17292141C>TClinGen:CA394885504C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp)64131XYLT1Uncertain significancers201009902RCV000996236|RCV001065965|RCV001334143; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MONDO:MONDO:0014343,MedGen:C4014294,OMIM:615777, Orphanet:1425161729214217292142GA16:g.17292142G>A-
NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn)64131XYLT1Uncertain significancers146025263RCV001204198; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729214717292147CT16:g.17292147C>T-
NM_022166.4(XYLT1):c.1191C>G (p.Leu397=)64131XYLT1Likely benign-1RCV001433198; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729216717292167GC17292167-
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)64131XYLT1Likely benignrs36098987RCV000953027|RCV001729754|RCV001729755; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202|MedGen:CN169374161729220417292204GA16:g.17292204G>A-
NM_022166.4(XYLT1):c.1140T>C (p.Asn380=)64131XYLT1Likely benign-1RCV002161677; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729221817292218AG17292218-
NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu)64131XYLT1Uncertain significance-1RCV001928905; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729222917292229GC17292229-
NM_022166.4(XYLT1):c.1088G>A (p.Arg363His)64131XYLT1Uncertain significance-1RCV001996502; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729227017292270CT17292270-
NM_022166.4(XYLT1):c.1087-14_1087-11del64131XYLT1Likely benign-1RCV002080872; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729228217292285GGAGAG17292281-
NM_022166.4(XYLT1):c.1087-18T>C64131XYLT1Likely benign-1RCV002154915; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729228917292289AG17292289-
NM_022166.4(XYLT1):c.1086+4A>G64131XYLT1Uncertain significancers368086323RCV001235489; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729433517294335TC16:g.17294335T>C-
NM_022166.4(XYLT1):c.1077C>T (p.His359=)64131XYLT1Benign/Likely benign-1RCV001511487|RCV001567366; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161729434817294348GA17294348-
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=)64131XYLT1Benign-1RCV001511749; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729438117294381GA17294381-
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=)64131XYLT1Likely benign-1RCV002089780; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729439317294393GA17294393-
NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser)64131XYLT1Uncertain significance-1RCV001979030; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729441917294419CT17294419-
NM_022166.4(XYLT1):c.987C>T (p.Ala329=)64131XYLT1Likely benign-1RCV002187131; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729443817294438GA17294438-
NM_022166.4(XYLT1):c.984C>T (p.Ile328=)64131XYLT1Likely benign-1RCV002146252; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729444117294441GA17294441-
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu)64131XYLT1Uncertain significance-1RCV002028030; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729445117294451GA17294451-
NM_022166.4(XYLT1):c.951C>T (p.Ser317=)64131XYLT1Benign-1RCV002167285; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729447417294474GA17294474-
NM_022166.4(XYLT1):c.930C>T (p.Asn310=)64131XYLT1Likely benign-1RCV002097415; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729449517294495GA17294495-
NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn)64131XYLT1Uncertain significancers1368460695RCV001296667; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729449817294498CG17294498-
NM_022166.4(XYLT1):c.927G>A (p.Lys309=)64131XYLT1Likely benign-1RCV002201401; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729449817294498CT17294498-
NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr)64131XYLT1Uncertain significance-1RCV001992481; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729450217294502TG17294502-
NM_022166.4(XYLT1):c.914-8T>A64131XYLT1Likely benign-1RCV002173445; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729451917294519AT17294519-
NM_022166.4(XYLT1):c.914-9T>A64131XYLT1Uncertain significance-1RCV002029845; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729452017294520AT17294520-
NM_022166.4(XYLT1):c.914-18C>A64131XYLT1Likely benign-1RCV002211751; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161729452917294529GT17294529-
NM_022166.4(XYLT1):c.913+16G>C64131XYLT1Likely benign-1RCV002105778; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735282917352829CG17352829-
NM_022166.4(XYLT1):c.913+15del64131XYLT1Benign-1RCV002172090; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735283017352830CGC17352829-
NM_022166.4(XYLT1):c.913+9C>T64131XYLT1Benign-1RCV001515014|RCV001655750; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161735283617352836GA17352836-
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser)64131XYLT1Uncertain significance-1RCV002032292; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735285917352859AG17352859-
NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser)64131XYLT1Uncertain significancers763286849RCV001315518; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735291017352910GC17352910-
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu)64131XYLT1Uncertain significancers751753807RCV000694129; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735292817352928CANC_000016.9:g.17352928C>A-C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr)64131XYLT1Uncertain significancers183356442RCV001056816; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735294717352947CT16:g.17352947C>T-
NM_022166.4(XYLT1):c.807C>T (p.Ser269=)64131XYLT1Likely benign-1RCV001422495; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735295117352951GA17352951-
NM_022166.4(XYLT1):c.793A>G (p.Ile265Val)64131XYLT1Uncertain significance-1RCV001878408; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735296517352965TC17352965-
NM_022166.4(XYLT1):c.764C>T (p.Pro255Leu)64131XYLT1Uncertain significance-1RCV001930855; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735299417352994GA17352994-
NM_022166.4(XYLT1):c.750G>A (p.Lys250=)64131XYLT1Likely benign-1RCV002126393; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735300817353008CT17353008-
NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys)64131XYLT1Uncertain significancers765052371RCV001069661; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735301617353016CT16:g.17353016C>T-
NM_022166.4(XYLT1):c.735C>T (p.Ser245=)64131XYLT1Likely benign-1RCV002102428; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735302317353023GA17353023-
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala)64131XYLT1Uncertain significance-1RCV002030106; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735302717353027CG17353027-
NM_022166.4(XYLT1):c.711T>A (p.Pro237=)64131XYLT1Likely benign-1RCV001476006; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735304717353047AT17353047-
NM_022166.4(XYLT1):c.708G>A (p.Pro236=)64131XYLT1Likely benign-1RCV002196338; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735305017353050CT17353050-
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu)64131XYLT1Uncertain significancers140976278RCV001066502; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735305117353051GA16:g.17353051G>A-
NM_022166.4(XYLT1):c.694G>C (p.Asp232His)64131XYLT1Uncertain significance-1RCV001910249; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735306417353064CG17353064-
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu)64131XYLT1Uncertain significance-1RCV001940309; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735306917353069CT17353069-
NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr)64131XYLT1Uncertain significance-1RCV002001299; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735308817353088CT17353088-
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly)64131XYLT1Benign-1RCV001519015|RCV001655773; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161735309017353090GC17353090-
NM_022166.4(XYLT1):c.657C>T (p.Pro219=)64131XYLT1Benign-1RCV002160693; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735310117353101GA17353101-
NM_022166.4(XYLT1):c.624C>T (p.Phe208=)64131XYLT1Benign-1RCV002115887; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735313417353134GA17353134-
NM_022166.4(XYLT1):c.617A>G (p.His206Arg)64131XYLT1Uncertain significance-1RCV002017217; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735314117353141TC17353141-
NM_022166.4(XYLT1):c.615A>G (p.Gly205=)64131XYLT1Likely benignrs762851973RCV000890279; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735314317353143TC16:g.17353143T>C-
NM_022166.4(XYLT1):c.606A>G (p.Lys202=)64131XYLT1Benignrs114030556RCV000970560; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735315217353152TC16:g.17353152T>C-
NM_022166.4(XYLT1):c.558G>A (p.Pro186=)64131XYLT1Likely benign-1RCV001954073; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735320017353200CT17353200-
NM_022166.4(XYLT1):c.546G>A (p.Ala182=)64131XYLT1Likely benign-1RCV002096857; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735321217353212CT17353212-
NM_022166.4(XYLT1):c.541T>C (p.Leu181=)64131XYLT1Likely benign-1RCV002117616; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735321717353217AG17353217-
NM_022166.4(XYLT1):c.534G>T (p.Gln178His)64131XYLT1Uncertain significance-1RCV001887378; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735322417353224CA17353224-
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser)64131XYLT1Uncertain significance-1RCV002038364; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735325017353250GA17353250-
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln)64131XYLT1Uncertain significance-1RCV002037434; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735331817353318CT17353318-
NM_022166.4(XYLT1):c.436G>A (p.Val146Met)64131XYLT1Uncertain significancers2033689677RCV001339191; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735332217353322CT17353322-
NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr)64131XYLT1Uncertain significancers760513040RCV001050889; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735332417353324TG16:g.17353324T>G-
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu)64131XYLT1Uncertain significance-1RCV001898529; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735333317353333GA17353333-
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)64131XYLT1Conflicting interpretations of pathogenicityrs74993523RCV000413146|RCV000888814; NMedGen:CN169374|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735333717353337GA16:g.17353337G>AClinGen:CA7928199CN169374 not specified;
NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe)64131XYLT1Uncertain significancers1251084213RCV001067297; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735334217353342GA16:g.17353342G>A-
NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu)64131XYLT1Uncertain significancers2033690309RCV001295802; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161735334617353346AG17353346-
NM_022166.4(XYLT1):c.402+18C>T64131XYLT1Benign-1RCV002166625; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745185117451851GA17451851-
NM_022166.4(XYLT1):c.402+18C>G64131XYLT1Likely benign-1RCV002207200; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745185117451851GC17451851-
NM_022166.4(XYLT1):c.402+15T>C64131XYLT1Likely benign-1RCV002100655; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745185417451854AG17451854-
NC_000016.9:g.(?_17451859)_(17451917_?)del64131XYLT1Uncertain significance-1RCV001374278; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745185917451917nana-1-
NM_022166.4(XYLT1):c.402+6T>C64131XYLT1Likely benign-1RCV001481334; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745186317451863AG17451863-
NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile)64131XYLT1Uncertain significance-1RCV001939844; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745188217451882GA17451882-
NM_022166.4(XYLT1):c.364-6C>T64131XYLT1Likely benign-1RCV001394047; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161745191317451913GA17451913-
NM_022166.4(XYLT1):c.363+18C>G64131XYLT1Benign-1RCV002122674; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756427317564273GC17564273-
NC_000016.9:g.(?_17564281)_(17564653_?)del64131XYLT1Pathogenic-1RCV001386266; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756428117564653nana-1-
NM_022166.4(XYLT1):c.359C>T (p.Ala120Val)64131XYLT1Uncertain significance-1RCV002010352; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756429517564295GA17564295-
NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr)64131XYLT1Uncertain significance-1RCV001930598; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756429617564296CT17564296-
NM_022166.4(XYLT1):c.357G>A (p.Arg119=)64131XYLT1Likely benign-1RCV002178081; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756429717564297CT17564297-
NM_022166.4(XYLT1):c.353C>T (p.Ala118Val)64131XYLT1Uncertain significancers1229787594RCV001061956; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756430117564301GA16:g.17564301G>A-
NM_022166.4(XYLT1):c.346C>G (p.Leu116Val)64131XYLT1Uncertain significancers2036970723RCV001314149; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756430817564308GC17564308-
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)64131XYLT1Benignrs61758388RCV000002643|RCV000550422|RCV001723535; NMedGen:C3279392|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161756431117564311CA16:g.17564311C>AClinGen:CA115603,UniProtKB:Q86Y38#VAR_071271,OMIM:608124.0001C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp)64131XYLT1Uncertain significancers2036970942RCV001319986; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756431717564317GA17564317-
NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro)64131XYLT1Uncertain significance-1RCV001897571; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756433717564337CG17564337-
NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln)64131XYLT1Uncertain significance-1RCV001916458; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756433717564337CT17564337-
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg)64131XYLT1Likely benignrs370511358RCV000957382|RCV001796331; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161756434717564347CT16:g.17564347C>T-
NM_022166.4(XYLT1):c.306C>T (p.Pro102=)64131XYLT1Likely benign-1RCV002091922; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756434817564348GA17564348-
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu)64131XYLT1Uncertain significancers1800826564RCV001343306; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756436117564361CA17564361-
NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro)64131XYLT1Uncertain significance-1RCV001863603; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756436717564367CG17564367-
NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del)64131XYLT1Uncertain significance-1RCV001930889; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756437017564375CGCCTGGC17564369-
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup)64131XYLT1Uncertain significancers748140156RCV001349829; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756438317564384GGTCCTCC17564383-
NM_022166.4(XYLT1):c.264A>T (p.Gly88=)64131XYLT1Likely benign-1RCV002081928; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756439017564390TA17564390-
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg)64131XYLT1Uncertain significancers1251643007RCV001308525; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756439217564392CT17564392-
NM_022166.4(XYLT1):c.258A>C (p.Gly86=)64131XYLT1Likely benign-1RCV002154732; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756439617564396TG17564396-
NM_022166.4(XYLT1):c.255C>A (p.Gly85=)64131XYLT1Likely benign-1RCV001478616; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756439917564399GT17564399-
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup)64131XYLT1Likely benignrs559215248RCV000981669|RCV001484666; NMedGen:CN517202|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756440517564406GGCCT16:g.17564405_17564406insCCT-
NM_022166.4(XYLT1):c.246A>C (p.Gly82=)64131XYLT1Likely benign-1RCV001450195; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756440817564408TG17564408-
NM_022166.4(XYLT1):c.228A>G (p.Ala76=)64131XYLT1Likely benign-1RCV001479996; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756442617564426TC17564426-
NM_022166.4(XYLT1):c.213C>T (p.Pro71=)64131XYLT1Likely benign-1RCV001400880; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756444117564441GA17564441-
NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup)64131XYLT1Uncertain significancers2036975094RCV001316912; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756444517564446AAGGTCCCGGC17564445-
NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3])64131XYLT1Uncertain significance-1RCV002043116; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756446417564465GGCGGGGC17564464-
NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg)64131XYLT1Uncertain significance-1RCV002023559; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756446617564466GC17564466-
NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg)64131XYLT1Uncertain significance-1RCV001934435; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756447217564472GC17564472-
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val)64131XYLT1Uncertain significance-1RCV001939127; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756447517564475GA17564475-
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu)64131XYLT1Uncertain significancers984714850RCV001320585; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756448117564481GA17564481-
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu)64131XYLT1Uncertain significancers2036977208RCV001345975; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756449317564493CT17564493-
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)64131XYLT1Conflicting interpretations of pathogenicityrs766521030RCV000699749|RCV001771984; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425|MedGen:CN517202161756450017564500CT16:g.17564500C>T-C4012146 251450 Desbuquois dysplasia 1;
NM_022166.4(XYLT1):c.153C>T (p.Val51=)64131XYLT1Likely benign-1RCV002106303; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756450117564501GA17564501-
NM_022166.4(XYLT1):c.152T>C (p.Val51Ala)64131XYLT1Uncertain significance-1RCV001369754; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756450217564502AG17564502-
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)64131XYLT1Uncertain significancers760732431RCV000791998; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756451517564515CG16:g.17564515C>G-
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys)64131XYLT1Uncertain significance-1RCV001867125; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756452417564524CT17564524-
NM_022166.4(XYLT1):c.126C>T (p.Ala42=)64131XYLT1Likely benign-1RCV002088219; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756452817564528GA17564528-
NM_022166.4(XYLT1):c.114C>G (p.Leu38=)64131XYLT1Likely benign-1RCV002101033; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756454017564540GC17564540-
NM_022166.4(XYLT1):c.94G>A (p.Val32Met)64131XYLT1Uncertain significance-1RCV001985116; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756456017564560CT17564560-
NM_022166.4(XYLT1):c.93C>T (p.Val31=)64131XYLT1Likely benign-1RCV001465790; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756456117564561GA17564561-
NM_022166.4(XYLT1):c.88C>G (p.Leu30Val)64131XYLT1Uncertain significancers948173236RCV001307902; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756456617564566GC17564566-
NM_022166.4(XYLT1):c.72G>C (p.Val24=)64131XYLT1Likely benign-1RCV001503265; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756458217564582CG17564582-
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val)64131XYLT1Uncertain significance-1RCV001368508; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756459517564595GA17564595-
NM_022166.4(XYLT1):c.57C>T (p.Leu19=)64131XYLT1Likely benign-1RCV001497968; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756459717564597GA17564597-
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu)64131XYLT1Uncertain significance-1RCV001914668; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756460717564607GA17564607-
NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu)64131XYLT1Uncertain significance-1RCV001954812; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756461317564613GA17564613-
NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp)64131XYLT1Uncertain significance-1RCV001943516; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756463617564636GC17564636-
NM_022166.4(XYLT1):c.4G>A (p.Val2Met)64131XYLT1Uncertain significancers1567216029RCV001222863; NMONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450, Orphanet:1425161756465017564650CT16:g.17564650C>T-
MSeqDR Portal