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:
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Craniofacial Abnormalities (D019465)
Parent Node:
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Dysostoses (D004413)
..Starting node
..expand
Craniofacial Dysostosis (D003394)

       Child Nodes:
........expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
........expandBazopoulou Kyrkanidou syndrome (C537664)
........expandCote Katsantoni syndrome (C536449)
........expandCraniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
........expandCraniometaphyseal dysplasia, autosomal recessive type (C536570)
........expandCrouzon Syndrome With Acanthosis Nigricans (C567382)
........expandFreeman-Sheldon syndrome (C535483)
........expandHallermann's Syndrome (D006210) Child1
........expandHypertelorism (D006972) Child32
........expandHypomandibular faciocranial dysostosis (C537154)
........expandKaplan Plauchu Fitch syndrome (C536892)
........expandMandibulofacial Dysostosis (D008342) Child20
........expandMaxillofacial Dysostosis (C563599)
........expandOculomaxillofacial dysostosis (C537736)
........expandTricho-dento-osseous syndrome 1 (C536550)
........expandWhistling face syndrome, recessive form (C536699)



 Sister Nodes: 
..expandAchard syndrome (C536012)
..expandAcrodysostosis (C538179)
..expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
..expandCervical Vertebrae, Agenesis Of (C562952)
..expandCraniofacial Dysostosis (D003394) Child68
..expandDiaphanospondylodysostosis (C564305)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandFronto-facio-nasal dysplasia (C538063)
..expandKlippel-Feil Syndrome (D007714) Child5
..expandMandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..expandMandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..expandMetaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..expandOrofaciodigital Syndromes (D009958) Child14
..expandPelviscapular dysplasia (C535550) Child1
..expandRubinstein-Taybi Syndrome (D012415) Child2
..expandSpondylocostal Dysostosis 4, Autosomal Dominant (C565149)
..expandSPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandSpondylocostal dysostosis, autosomal recessive (C535781) Child4
..expandSpondylospinal Thoracic Dysostosis (C566622)
..expandSynostosis (D013580) Child150
..expandThoracic Dysostosis, Isolated (C566063)
..expandThoracopelvic Dysostosis (C566062)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3127
Name:Craniofacial Dysostosis
Definition:Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Alternative IDs:DO:DOID:2339|OMIM:123500
ParentIDs:MESH:D004413|MESH:D019465
TreeNumbers:C05.116.099.370.231 |C05.660.207.231 |C16.131.621.207.231
Synonyms:CFD1 |Craniofacial Dysarthroses |Craniofacial Dysarthrosis |Craniofacial Dysostoses |Craniofacial Dysostosis, Crouzon |Craniofacial Dysostosis Syndrome |Craniofacial Dysostosis Syndromes |Craniofacial Dysostosis Type 1 |Craniofacial Dysostosis, Type I |Crouzon Cr
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: D003394
MeSH: D003394
OMIM: 123500;
MSeqDR LSDB:  
Genes: FGFR2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003319Abnormality of the cervical spine
3 HP:0001739Abnormality of the nasopharynx
4 HP:0000413Atresia of the external auditory canal
5 HP:0000248Brachycephaly
6 HP:0000405Conductive hearing impairment
7 HP:0000509Conjunctivitis
8 HP:0004440Coronal craniosynostosis
9 HP:0004439Craniofacial dysostosis
10 HP:0000678Dental crowding
11 HP:0100621Dysgerminoma
12 HP:0002007Frontal bossing
13 HP:0000316Hypertelorism
14 HP:0000327Hypoplasia of the maxilla
15 HP:0001249Intellectual disabilityHP:0040283
16 HP:0004443Lambdoidal craniosynostosis
17 HP:0000303Mandibular prognathia
18 HP:0000648Optic atrophy
19 HP:0004442Sagittal craniosynostosis
20 HP:0001250Seizures
NAMDC:  Seizures
21 HP:0000586Shallow orbits
22 HP:0010535Sleep apnea
23 HP:0000486Strabismus
24 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000010.11:g.121478318G>T2263FGFR2Uncertain significancers1194799333RCV001104768|RCV001105899|RCV001105900|RCV001105897|RCV001105898; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MedGen:CN043619|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:010123237832123237832GT10:g.123237832G>T-
NM_000141.5(FGFR2):c.*1369C>T2263FGFR2Uncertain significancers886046759RCV000293299|RCV000308029|RCV000389972|RCV000397464|RCV000397465; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phe10123238002123238002GA10:g.123238002G>AClinGen:CA10628106C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.*1283C>G2263FGFR2Uncertain significancers1844298421RCV001106009|RCV001106008|RCV001106005|RCV001106006|RCV001106007; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:010123238088123238088GC10:g.123238088G>C-
NM_000141.5(FGFR2):c.*1126T>C2263FGFR2Uncertain significancers370106008RCV000285358|RCV000297852|RCV000325050|RCV000336776|RCV000394533; NMedGen:CN043619|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Huma10123238245123238245AG10:g.123238245A>GClinGen:CA10631060
NM_000141.5(FGFR2):c.*730G>C2263FGFR2Uncertain significancers549293047RCV001106109|RCV001106108|RCV001106110|RCV001106106|RCV001106107; NMedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123238641123238641CG10:g.123238641C>G-
NM_000141.5(FGFR2):c.*674G>T2263FGFR2Conflicting interpretations of pathogenicityrs566155088RCV000263242|RCV000292614|RCV000318442|RCV000354604|RCV000383383; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:010123238697123238697CA10:g.123238697C>AClinGen:CA10634793
NM_000141.5(FGFR2):c.*497T>C2263FGFR2Uncertain significancers3135827RCV000277795|RCV000297017|RCV000329454|RCV000370031|RCV000368887; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0010123238874123238874AG10:g.123238874A>GClinGen:CA10634799
NM_000141.5(FGFR2):c.*324A>G2263FGFR2Benign/Likely benignrs150519853RCV000278665|RCV000336051|RCV000349851|RCV000375349|RCV000389329; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:000544810123239047123239047TC10:g.123239047T>CClinGen:CA5720410
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=)2263FGFR2Benign/Likely benignrs558460047RCV000272505|RCV000307981|RCV000327582|RCV000323882|RCV000394940|RCV000913690|RCV001562709; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MedGen:CN043619|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Huma10123239422123239422GA10:g.123239422G>AClinGen:CA5720451
NM_000141.5(FGFR2):c.2001C>G (p.Val667=)2263FGFR2Benign/Likely benignrs61731218RCV000299042|RCV000302150|RCV000310494|RCV000346600|RCV000354026|RCV000538582|RCV001689988; NMedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123246924123246924GC10:g.123246924G>CClinGen:CA5720583
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=)2263FGFR2Benignrs35337478RCV000254345|RCV000263901|RCV000288712|RCV000334154|RCV000387725|RCV000387358|RCV000526022|RCV001282673; NMedGen:CN169374|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MedGen:CN043619|Human Phenotype Ontology:HP:0001363,Human Phenoty10123247550123247550GA10:g.123247550G>AClinGen:CA5720607C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)2263FGFR2Likely pathogenicrs1057519045RCV000415507|RCV000418082|RCV000425472|RCV000428300|RCV000432507|RCV000435736|RCV000786040; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontolo10123258036123258036TG10:g.123258036T>GClinGen:CA16043908C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)2263FGFR2Pathogenicrs121918507RCV000014220|RCV000014221; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0012307,MedGen:C1865070,OMIM:609579, Orphanet:16862410123258105123258105TC10:g.123258105T>CClinGen:CA122996,UniProtKB:P21802#VAR_023788,OMIM:176943.0034C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)2263FGFR2Benign/Likely benignrs74160613RCV000351105|RCV000872597|RCV001106375|RCV001106373|RCV001106374|RCV001108580|RCV001106376|RCV001545315; NMedGen:CN169374|MedGen:CN231480|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Hum10123258109123258109TC10:g.123258109T>CClinGen:CA5720693CN169374 not specified;
NM_000141.5(FGFR2):c.1562-11A>G2263FGFR2Conflicting interpretations of pathogenicityrs41293744RCV000279290|RCV000314648|RCV000334405|RCV000342883|RCV000403467; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:010123258130123258130TC10:g.123258130T>CClinGen:CA5720700
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=)2263FGFR2Uncertain significancers74160617RCV000279093|RCV000294423|RCV000320169|RCV000349333|RCV000404985; NMedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123260362123260362GT10:g.123260362G>TClinGen:CA10631081
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)2263FGFR2Conflicting interpretations of pathogenicityrs147674677RCV000305286|RCV000308682|RCV000317604|RCV000360045|RCV000402531|RCV000882953; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Huma10123274679123274679CT10:g.123274679C>TClinGen:CA5720812
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)2263FGFR2Uncertain significancers1849564914RCV001105431|RCV001105433|RCV001105432|RCV001105429|RCV001105430; NMedGen:CN043619|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Huma10123274825123274825TG10:g.123274825T>G-
NM_000141.5(FGFR2):c.1085-13A>T2263FGFR2Benign/Likely benignrs41295573RCV000305523|RCV000334743|RCV000340621|RCV000396124|RCV000404258|RCV001636858; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MedGen:CN043619|Huma10123274846123274846TA10:g.123274846T>AClinGen:CA5720844
NM_000141.5(FGFR2):c.1084+3A>G2263FGFR2Pathogenicrs879253721RCV000014225|RCV000014226|RCV001254178|RCV001382547; NMONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010210123276830123276830TC10:g.123276830T>CClinGen:CA10575520,OMIM:176943.0038
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)2263FGFR2Pathogenicrs121918490RCV000014176|RCV000623131|RCV000655419|RCV001565300; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MeSH:D030342,MedGen:C0950123|MedGen:CN231480|MedGen:CN51720210123276856123276856GC10:g.123276856G>CClinGen:CA280170,UniProtKB:P21802#VAR_004144,OMIM:176943.0005C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)2263FGFR2Pathogenic/Likely pathogenicrs121918494RCV000014190|RCV000626619|RCV000655421|RCV000726654; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|22 conditions|MedGen:CN231480|MedGen:CN51720210123276877123276877GC10:g.123276877G>CClinGen:CA280173,UniProtKB:P21802#VAR_004142,OMIM:176943.0009C0431483 Abnormality of the pinna;
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)2263FGFR2Pathogenicrs121918491RCV000014186|RCV000014184|RCV000014185|RCV000192353|RCV000686210|RCV000762800|RCV001579726; NMedGen:C1867564|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:C1867563|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Hum10123276885123276885CT10:g.123276885C>TClinGen:CA122983,OMIM:176943.0006C1849943 Craniosynostosis;
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)2263FGFR2Pathogenicrs121918492RCV000014188|RCV000014187; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:154010123276886123276886GC10:g.123276886G>CClinGen:CA280171,UniProtKB:P21802#VAR_004140,OMIM:176943.0007C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp)2263FGFR2Pathogenicrs121918496RCV000014195|RCV000535651|RCV001588812; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN231480|MedGen:CN51720210123276891123276891GC10:g.123276891G>CClinGen:CA280177,UniProtKB:P21802#VAR_017271,OMIM:176943.0013C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)2263FGFR2Pathogenic/Likely pathogenicrs121918487RCV000014173|RCV000014174|RCV000547490|RCV000762801|RCV001090933|RCV001196204|RCV001730471; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|MedGen:CN231480|11 conditions|MedGen:CN517202|MONDO:MONDO:0020667,MedGen:C2936791,10123276892123276892CT10:g.123276892C>TClinGen:CA280168,UniProtKB:P21802#VAR_004139,OMIM:176943.0001C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)2263FGFR2Pathogenicrs121918487RCV000415499|RCV000560038|RCV000856727|RCV001729573; NMONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MedGen:CN231480|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN51720210123276892123276892CG10:g.123276892C>GClinGen:CA10575447CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)2263FGFR2Pathogenicrs121918488RCV000014178|RCV000014180|RCV000014177|RCV000014179|RCV000534888|RCV001723565; NMONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410, Orphanet:83|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007400,Me10123276893123276893AG10:g.123276893A>GClinGen:CA256745,UniProtKB:P21802#VAR_004137,OMIM:176943.0002C2936791 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)2263FGFR2Pathogenicrs121918488RCV000014181|RCV000014182|RCV000014183|RCV000415484|RCV000490034|RCV000655416; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410, Orphanet:83|MONDO:MONDO:0007043,M10123276893123276893AT10:g.123276893A>TClinGen:CA256746,UniProtKB:P21802#VAR_004138,OMIM:176943.0003C2936791 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)2263FGFR2Pathogenicrs121918489RCV000014175|RCV001214882|RCV001723564; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN231480|MedGen:CN51720210123276899123276899AG10:g.123276899A>GClinGen:CA280169,UniProtKB:P21802#VAR_004134,OMIM:176943.0004C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)2263FGFR2Pathogenic/Likely pathogenicrs1057519044RCV000415513|RCV000762802|RCV001377881; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|11 conditions|MedGen:CN23148010123276904123276904CT10:g.123276904C>TClinGen:CA16043911C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)2263FGFR2Pathogenicrs1057519043RCV000415494|RCV001381651; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN23148010123276905123276905CG10:g.123276905C>GClinGen:CA16043912
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro)2263FGFR2Pathogenicrs387906676RCV000022732; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123276908123276908CG10:g.123276908C>GClinGen:CA280240,UniProtKB:P21802#VAR_017268,OMIM:176943.0041C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)2263FGFR2Pathogenic/Likely pathogenicrs1057519042RCV000415483; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123276910123276910TC10:g.123276910T>CClinGen:CA16043913
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)2263FGFR2Conflicting interpretations of pathogenicityrs199757302RCV000700533|RCV000763646|RCV001108749|RCV001106572|RCV001106573|RCV001106574|RCV001108748|RCV001536168; NMedGen:CN231480|11 conditions|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|MONDO:MONDO:0007042,MedGen:C017569910123276928123276928CT10:g.123276928C>T-CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)2263FGFR2Pathogenicrs121918493RCV000014189|RCV000798719; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN23148010123276934123276934TC10:g.123276934T>COMIM:176943.0008,ClinGen:CA280172,UniProtKB:P21802#VAR_004130C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)2263FGFR2Pathogenicrs121918504RCV000014212|RCV000856813|RCV001280733; NMedGen:C4016346|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN51720210123276974123276974CA10:g.123276974C>AClinGen:CA122992,UniProtKB:P21802#VAR_017267,OMIM:176943.0028C4016346 Craniosynostosis, nonsyndromic unicoronal;
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)2263FGFR2Pathogenicrs1057519040RCV000415502; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279509123279509TC10:g.123279509T>CClinGen:CA16043915C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.879C>T (p.His293=)2263FGFR2Benign/Likely benignrs55745510RCV000311819|RCV000350294|RCV000372112|RCV000405277|RCV000403360|RCV000941710; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:000544810123279553123279553GA10:g.123279553G>AClinGen:CA5720981
NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu)2263FGFR2Pathogenicrs121918500RCV000014204; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279558123279558TC10:g.123279558T>CClinGen:CA280183,UniProtKB:P21802#VAR_004126,OMIM:176943.0020C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)2263FGFR2Pathogenicrs1057519039RCV000415506; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279563123279563CG10:g.123279563C>GClinGen:CA16043916C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)2263FGFR2Pathogenicrs121918501RCV000014205|RCV000537718|RCV001549469; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN231480|MedGen:CN51720210123279564123279564AG10:g.123279564A>GClinGen:CA280185,UniProtKB:P21802#VAR_004125,OMIM:176943.0021C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)2263FGFR2Pathogenicrs121918501RCV000014206; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279564123279564AC10:g.123279564A>CClinGen:CA280187,UniProtKB:P21802#VAR_017266,OMIM:176943.0022C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)2263FGFR2Pathogenicrs121918497RCV000014196|RCV000014197|RCV000415509|RCV001217538|RCV001572560; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|MedGen:CN231480|MedG10123279566123279566TG10:g.123279566T>GClinGen:CA280178,UniProtKB:P21802#VAR_004123,OMIM:176943.0014C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)2263FGFR2Likely pathogenicrs1057519038RCV000415488|RCV001547058; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN51720210123279590123279590TC10:g.123279590T>CClinGen:CA16043917C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)2263FGFR2Pathogenicrs776587763RCV000255197|RCV000415498|RCV000557313|RCV000844883; NMedGen:CN517202|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|MedGen:CN231480|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279599123279599CA10:g.123279599C>AClinGen:CA5720987,UniProtKB:P21802#VAR_004121CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.824_829dup (p.Glu275_Phe276dup)2263FGFR2Likely pathogenicrs1850299732RCV001263201; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279602123279603AACAAACT10:g.123279602_123279603insCAAACT-
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)2263FGFR2Pathogenic/Likely pathogenicrs1057519036RCV000415486|RCV000655413|RCV001723974|RCV001764350; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN231480|MedGen:CN517202|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:8710123279606123279606AC10:g.123279606A>CClinGen:CA16043919C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)2263FGFR2Pathogenic/Likely pathogenicrs1564919048RCV000695392|RCV000856806; NMedGen:CN231480|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279620123279620CA10:g.123279620C>A-CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)2263FGFR2Likely pathogenic-1RCV001720280; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:20710123279620123279621CCGG123279620-
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)2263FGFR2Pathogenicrs121918505RCV000014214|RCV000014213|RCV000408850|RCV000435703|RCV000690962; NHuman Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN510123279633123279633AG10:g.123279633A>GClinGen:CA210548,UniProtKB:P21802#VAR_004118,OMIM:176943.0029C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.780C>T (p.Ala260=)2263FGFR2Conflicting interpretations of pathogenicityrs778288494RCV000951762|RCV001103586|RCV001105524|RCV001103587|RCV001103588|RCV001103589|RCV001462126; NMedGen:CN517202|MedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0001363,Human Phenotyp10123279652123279652GA10:g.123279652G>A-
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)2263FGFR2Conflicting interpretations of pathogenicityrs79184941RCV000664049|RCV001313539; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN23148010123279677123279677GA10:g.123279677G>A-
NM_000141.5(FGFR2):c.714G>A (p.Gly238=)2263FGFR2Conflicting interpretations of pathogenicityrs1276387170RCV000903031|RCV001105530|RCV001106677|RCV001106679|RCV001105531|RCV001106678; NMedGen:CN517202|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123298140123298140CT10:g.123298140C>T-
NM_000141.5(FGFR2):c.696A>G (p.Val232=)2263FGFR2Benignrs1047100RCV000250550|RCV000264031|RCV000268420|RCV000308616|RCV000321550|RCV000365600|RCV001520132; NMedGen:CN169374|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123298158123298158TC10:g.123298158T>CClinGen:CA5721070
NM_000141.5(FGFR2):c.625-10A>G2263FGFR2Conflicting interpretations of pathogenicityrs201512833RCV000294102|RCV000288101|RCV000345434|RCV000386009|RCV000405259|RCV000945773; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Huma10123298239123298239TC10:g.123298239T>CClinGen:CA5721075
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)2263FGFR2Benignrs755793RCV000121066|RCV000390607|RCV000417413|RCV000543983|RCV001105634|RCV001103686|RCV001105633|RCV001105635|RCV001283079; NMedGen:CN169374|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN517202|MedGen:CN231480|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0001310123310871123310871AG10:g.123310871A>GClinGen:CA159675,UniProtKB:P21802#VAR_017260C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.351T>C (p.Thr117=)2263FGFR2Uncertain significancers886046764RCV000260949|RCV000273415|RCV000301900|RCV000305605|RCV000353460; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MedGen:CN043619|Huma10123324977123324977AG10:g.123324977A>GClinGen:CA10631083
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)2263FGFR2Benign/Likely benignrs1047101RCV000176990|RCV000296060|RCV000330827|RCV000325276|RCV000347878|RCV000387738|RCV000555739|RCV001080339; NMedGen:CN169374|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Huma10123325034123325034CT10:g.123325034C>TClinGen:CA202213C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.204C>T (p.Ala68=)2263FGFR2Uncertain significancers747982371RCV000297469|RCV000332867|RCV000354702|RCV000405218|RCV000406055; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phe10123325124123325124GA10:g.123325124G>AClinGen:CA10635062
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)2263FGFR2Conflicting interpretations of pathogenicityrs200386134RCV001103786|RCV001103785|RCV001103782|RCV001103783|RCV001103784; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Onto10123325127123325127GA10:g.123325127G>A-
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)2263FGFR2Benign/Likely benignrs56226109RCV000121064|RCV000263953|RCV000269710|RCV000327188|RCV000384082|RCV000343401|RCV000422487|RCV001086030|RCV001286910; NMedGen:CN169374|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|Human Phenotype Ontology:HP:0001363,Human Phenotyp10123325158123325158GA10:g.123325158G>AClinGen:CA159671,UniProtKB:P21802#VAR_042204C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.159G>A (p.Ala53=)2263FGFR2Benign/Likely benignrs1047102RCV000176991|RCV000284793|RCV000309293|RCV000339836|RCV000345589|RCV000402796|RCV000756159|RCV001085303|RCV001283588; NMedGen:CN169374|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123325169123325169CT10:g.123325169C>TClinGen:CA202216C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.109+10T>G2263FGFR2Benign/Likely benignrs3135722RCV000252994|RCV000283288|RCV000347082|RCV000383027|RCV000390937|RCV000404873|RCV000834424|RCV001283562|RCV001084290; NMedGen:CN169374|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ont10123353213123353213AC10:g.123353213A>CClinGen:CA5721234C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.33C>T (p.Val11=)2263FGFR2Conflicting interpretations of pathogenicityrs200562301RCV001107506|RCV001107505|RCV001107507|RCV001107508|RCV001107509; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:000544810123353299123353299GA10:g.123353299G>A-
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)2263FGFR2Benignrs3750819RCV000121060|RCV000265971|RCV000271967|RCV000260043|RCV000305951|RCV000366350|RCV000554983|RCV001082465|RCV001283076; NMedGen:CN169374|MedGen:CN043619|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500,O10123353315123353315CG10:g.123353315C>GClinGen:CA159662,UniProtKB:P21802#VAR_017258C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.-46G>A2263FGFR2Benign/Likely benignrs201606812RCV000293239|RCV000332972|RCV000338905|RCV000381570|RCV000387443|RCV000836179; NMedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Huma10123353377123353377CT10:g.123353377C>TClinGen:CA5721269
NM_000141.5(FGFR2):c.-74G>A2263FGFR2Benign/Likely benignrs4647922RCV000270642|RCV000335324|RCV000359627|RCV000365184|RCV000403651; NMedGen:CN043619|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Huma10123353405123353405CT10:g.123353405C>TClinGen:CA5721277
NM_000141.5(FGFR2):c.-128G>A2263FGFR2Uncertain significancers547739869RCV000276558|RCV000331553|RCV000341622|RCV000371110|RCV000371832; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:000544810123353459123353459CT10:g.123353459C>TClinGen:CA10628109
NM_000141.5(FGFR2):c.-135C>T2263FGFR2Conflicting interpretations of pathogenicityrs554557891RCV000273663|RCV000266910|RCV000355593|RCV000376851|RCV000380311; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phe10123353466123353466GA10:g.123353466G>AClinGen:CA10628114
NM_000141.5(FGFR2):c.-157A>G2263FGFR2Benignrs41258305RCV000291744|RCV000313121|RCV000352688|RCV000382793|RCV000392536|RCV000426203; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MedGen:CN043619|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Huma10123357482123357482TC10:g.123357482T>CClinGen:CA10635076
NM_000141.5(FGFR2):c.-165G>A2263FGFR2Uncertain significancers886046766RCV000266089|RCV000269666|RCV000300370|RCV000306119|RCV000355176; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phe10123357490123357490CT10:g.123357490C>TClinGen:CA10634811
NM_000141.5(FGFR2):c.-206C>A2263FGFR2Uncertain significancers1238787517RCV001104077|RCV001104079|RCV001104078|RCV001104379|RCV001104076; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phen10123357531123357531GT10:g.123357531G>T-
NM_000141.5(FGFR2):c.-358C>T2263FGFR2Benign/Likely benignrs41301545RCV000260434|RCV000283883|RCV000322524|RCV000319161|RCV000383889; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:000544810123357683123357683GA10:g.123357683G>AClinGen:CA10631089C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.-371C>T2263FGFR2Uncertain significancers527570655RCV000295183|RCV000291884|RCV000337414|RCV000352379|RCV000390657; NHuman Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:000544810123357696123357696GA10:g.123357696G>AClinGen:CA10635080C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.-458C>A2263FGFR2Benignrs41301043RCV000267781|RCV000269854|RCV000297692|RCV000328525|RCV000380768|RCV001672419; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|Huma10123357783123357783GT10:g.123357783G>TClinGen:CA10635082C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.-535G>C2263FGFR2Uncertain significancers886046767RCV000281879|RCV000292588|RCV000304345|RCV000374247|RCV000389320; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phen10123357860123357860CG10:g.123357860C>GClinGen:CA10628121
NM_000141.5(FGFR2):c.-590G>C2263FGFR2Uncertain significancers1221108798RCV001107231|RCV001107230|RCV001107872|RCV001107871|RCV001107873; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|Huma10123357915123357915CG10:g.123357915C>G-
NM_000141.5(FGFR2):c.-626C>A2263FGFR2Conflicting interpretations of pathogenicityrs549524538RCV001102648|RCV001102646|RCV001102647|RCV001104559|RCV001104560; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MedGen:CN043619|Huma10123357951123357951GT10:g.123357951G>T-
NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs)6949TCOF1Pathogenicrs1554080460RCV000486897|RCV000584795; NMedGen:CN517202|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207; MONDO:MONDO:0002457,MedGen:C0242387,OMIM:PS154500, Orphanet:8615149776031149776032TTG5:g.149776031_149776032insGClinGen:CA16618143C0010273 123500 Crouzon syndrome;
MSeqDR Portal