MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Developmental Disabilities (D002658)
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Psychomotor Disorders (D011596)
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BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)

       Child Nodes:



 Sister Nodes: 
..expandAL-RAQAD SYNDROME (OMIM:616459)
..expandALAZAMI-YUAN SYNDROME (OMIM:617126)
..expandAniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (C000598722)
..expandApraxias (D001072) Child10
..expandASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..expandBAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..expandCHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
..expandCONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHAREL-YOON SYNDROME (OMIM:617183)
..expandHEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..expandKEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
..expandMegarbane syndrome (C536145)
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandOGDEN SYNDROME (OMIM:300855)
..expandOKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTHAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandVERHEIJ SYNDROME (OMIM:615583)
..expandZTTK SYNDROME (OMIM:617140)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1204
Name:BAINBRIDGE-ROPERS SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D011596
TreeNumbers:C10.597.606.881/615485 |C23.888.592.604.882/615485 |F03.625.421/615485
Synonyms:BRPS
Slim Mappings:Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: 615485
MeSH: 615485
OMIM: 615485;
MSeqDR LSDB:  
Genes: ASXL3;
Phenotypes
1 HP:0000463Anteverted nares
2 HP:0011968Feeding difficulties
3 HP:0002553Highly arched eyebrow
4 HP:0011344Severe global developmental delay
5 HP:0008850Severe postnatal growth retardation
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_030632.1(ASXL3):c.1082+1784_3039+952del519780816ASXL3Likely pathogenic-1RCV000791293; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131615831321355nana-
NM_030632.3(ASXL3):c.1188_1191ACAG[1] (p.Thr398fs)80816ASXL3Pathogenicrs797045317RCV000193468|RCV000486570; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|MedGen:CN517202183131855631318559CACAGC18:g.31318556_31318559delClinGen:CA206982
NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter)80816ASXL3Pathogenic-1RCV001265437; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131855731318557CT18:g.31318557C>T-
NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter)80816ASXL3Pathogenic-1RCV001265445; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131857531318575CT18:g.31318575C>T-
NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter)80816ASXL3Pathogenicrs587777061RCV000059321; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131857831318578CT18:g.31318578C>TClinGen:CA145170,OMIM:615115.0001C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1214C>T (p.Pro405Leu)80816ASXL3Uncertain significancers762217973RCV000500895|RCV001249847; NMedGen:CN169374|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131858231318582CT18:g.31318582C>TClinGen:CA8933728
NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter)80816ASXL3Pathogenicrs1179499890RCV000735242; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131871931318719CT18:g.31318719C>T-
NM_030632.3(ASXL3):c.1354del (p.Glu452fs)80816ASXL3Pathogenicrs1555742087RCV000623086|RCV001265364; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131872131318721AGA18:g.31318721_31318721delClinGen:CA658799025C0950123 Inborn genetic diseases;
NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter)80816ASXL3Pathogenicrs587777062RCV000059322; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131876431318764CT18:g.31318764C>TClinGen:CA145172,OMIM:615115.0002C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter)80816ASXL3Pathogenicrs1555742148RCV000059324; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131878931318790CCT18:g.31318789_31318790insTClinGen:CA658658734,OMIM:615115.0004C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1448dup (p.Thr484fs)80816ASXL3Pathogenicrs1555742167RCV000624923; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131881531318816CCT18:g.31318815_31318816insTClinGen:CA658799026,OMIM:615115.0005C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)80816ASXL3Pathogenicrs1060499602RCV000477964|RCV000726055; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|MedGen:CN517202183131883931318839CT18:g.31318839C>TClinGen:CA16616935
NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs)80816ASXL3Pathogenic-1RCV001265443; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131884631318847GCAG18:g.31318846_31318847del-
NM_030632.3(ASXL3):c.1500del (p.Glu500fs)80816ASXL3Pathogenicrs1568359734RCV000678294; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131886731318867GAG18:g.31318867_31318867del-C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter)80816ASXL3Pathogenicrs1568359816RCV000760829|RCV001265434; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131890331318903TA18:g.31318903T>A-
NM_030632.3(ASXL3):c.1579dup (p.Gln527fs)80816ASXL3Likely pathogenic-1RCV001265432; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131894331318944AAC18:g.31318943_31318944insC-
NM_030632.3(ASXL3):c.1582del (p.Glu528fs)80816ASXL3Likely pathogenic-1RCV001252417; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131894931318949AGA18:g.31318949_31318949del-
NM_030632.3(ASXL3):c.1623_1624CT[2] (p.Leu543fs)80816ASXL3Pathogenicrs1085307640RCV000489639|RCV001265446; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131899131318992ACTA18:g.31318991_31318992delClinGen:CA645294121
NM_030632.3(ASXL3):c.1669G>T (p.Glu557Ter)80816ASXL3Likely pathogenic-1RCV001260910; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131903731319037GT18:g.31319037G>T-
NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter)80816ASXL3Pathogenicrs869312696RCV000209910; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131905031319050CA18:g.31319050C>AClinGen:CA353436C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter)80816ASXL3Pathogenicrs1555742333RCV000599168|RCV001265366; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131910631319106GT18:g.31319106G>TClinGen:CA402176224
NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer)80816ASXL3Pathogenic-1RCV001265449; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131918931319189GCG18:g.31319189_31319189del-
NM_030632.3(ASXL3):c.1847_1848AG[1] (p.Ser617fs)80816ASXL3Pathogenicrs1599563995RCV000785921; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131921431319215TGAT18:g.31319214_31319215del-
NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs)80816ASXL3Pathogenicrs1599564118RCV000990085; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131925231319253CAGC18:g.31319252_31319253del-
NM_030632.3(ASXL3):c.1939dup (p.Thr647fs)80816ASXL3Pathogenicrs886041753RCV000364000|RCV001265444; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131930631319307GGA18:g.31319306_31319307insAClinGen:CA10603491
NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer)80816ASXL3Pathogenicrs1057519498RCV000416511; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131932831319329TTC18:g.31319328_31319329insCClinGen:CA16044280C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)80816ASXL3Pathogenicrs1555742500RCV000059323|RCV000509280|RCV000624407; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|MedGen:CN517202|MeSH:D030342,MedGen:C0950123183131934331319346TACAGT18:g.31319343_31319346delClinGen:CA658653850,OMIM:615115.0003C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.2074G>C (p.Ala692Pro)80816ASXL3not providedrs1212866279RCV000509272; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131944231319442GC18:g.31319442G>CClinGen:CA402177341
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)80816ASXL3Likely pathogenicrs764053964RCV000985126; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183131983931319839CT18:g.31319839C>T-
NM_030632.3(ASXL3):c.2672A>G (p.Asp891Gly)80816ASXL3Uncertain significance-1RCV001262611; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132004031320040AG18:g.31320040A>G-
NM_030632.3(ASXL3):c.3010_3011AG[4] (p.Glu1006fs)80816ASXL3Likely pathogenicrs1599566942RCV000995700; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132037731320378CCAG18:g.31320377_31320378insAG-
NM_030632.3(ASXL3):c.3033dup (p.Leu1012fs)80816ASXL3Likely pathogenic-1RCV001263212; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132040031320401CCT18:g.31320400_31320401insT-
NM_030632.3(ASXL3):c.3039+1G>A80816ASXL3Pathogenicrs1555743003RCV000625988; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132040831320408GA18:g.31320408G>AClinGen:CA402182255C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.3039+2T>G80816ASXL3Pathogenic-1RCV001197846; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132040931320409TG18:g.31320409T>G-
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)80816ASXL3Pathogenic/Likely pathogenic-1RCV000493532|RCV000509007; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132291831322918CT18:g.31322918C>TClinGen:CA402184392
NM_030632.3(ASXL3):c.3298del (p.Ala1100fs)80816ASXL3Likely pathogenic-1RCV001261159; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132310931323109TGT18:g.31323109_31323109del-
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs)80816ASXL3Pathogenic-1RCV001265447|RCV001266016; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|MeSH:D030342,MedGen:C0950123183132312531323128GCAGAG18:g.31323125_31323128del-
NM_030632.3(ASXL3):c.3321_3325del (p.Lys1109fs)80816ASXL3Likely pathogenic-1RCV001265448; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132313231323136AAGGCTA18:g.31323132_31323136del-
NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs)80816ASXL3Pathogenicrs1599570895RCV000990086; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132314031323141CCTCTT18:g.31323140_31323141insTCTT-
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)80816ASXL3Conflicting interpretations of pathogenicityrs868044680RCV000263069|RCV000271358; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|MedGen:CN517202183132316131323161CT18:g.31323161C>TClinGen:CA10603417C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter)80816ASXL3Pathogenicrs1064793765RCV000484332|RCV000624921; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132317631323176CT18:g.31323176C>TClinGen:CA16620686,OMIM:615115.0007
NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs)80816ASXL3Likely pathogenic-1RCV001265435; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132318431323185TTAAAG18:g.31323184_31323185insAAAG-
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs)80816ASXL3Conflicting interpretations of pathogenicity-1RCV001253204|RCV001255324; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phe183132323331323239AAACTTAGA18:g.31323233_31323239del-
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)80816ASXL3Pathogenicrs377619533RCV000489967|RCV000509186|RCV001003997; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0183132327631323276CA18:g.31323276C>AClinGen:CA402185394
NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer)80816ASXL3Pathogenicrs1599571406RCV000995701; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132330531323306CTGC18:g.31323305_31323306del-
NM_030632.3(ASXL3):c.3500C>A (p.Ser1167Tyr)80816ASXL3Uncertain significance-1RCV001265439; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132331231323312CA18:g.31323312C>A-
NM_030632.3(ASXL3):c.3592_3593insGAT (p.Leu1198Ter)80816ASXL3Likely pathogenic-1RCV001251116; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132340331323404CCTGA18:g.31323403_31323404insTGA-
NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs)80816ASXL3Pathogenic-1RCV001265451; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132343231323433TTA18:g.31323432_31323433insA-
NM_030632.3(ASXL3):c.3785_3786del (p.Ser1262fs)80816ASXL3Likely pathogenic-1RCV001196600; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132359531323596CCTC18:g.31323595_31323596del-
NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs)80816ASXL3Pathogenicrs1599572151RCV000995702; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132363631323637CCTGCT18:g.31323636_31323637insTGCT-
NM_030632.3(ASXL3):c.3944C>G (p.Ser1315Ter)80816ASXL3Uncertain significance-1RCV001253662; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132375631323756CG18:g.31323756C>G-
NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter)80816ASXL3Pathogenicrs1555743954RCV000521542|RCV001265431; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132377631323776CT18:g.31323776C>TClinGen:CA402189132
NM_030632.3(ASXL3):c.4020_4021TG[1] (p.Val1341fs)80816ASXL3Pathogenicrs886041846RCV000305841|RCV001265229; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132383231323833CTGC18:g.31323832_31323833delClinGen:CA10603619
NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly)80816ASXL3Uncertain significancers1568365522RCV000785160; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132387831323878AG18:g.31323878A>G-
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs)80816ASXL3Likely pathogenicrs1555744039RCV000660464; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132388431323897TGTCTTGATTCCCCCT18:g.31323884_31323897del-
NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs)80816ASXL3Pathogenicrs1599572831RCV001008582|RCV001265440; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132389931323900ATG18:g.31323900_31323900del-
NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter)80816ASXL3Likely pathogenicrs1555744086RCV000624924|RCV001269691; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|MedGen:CN517202183132395631323956CT18:g.31323956C>TOMIM:615115.0008,ClinGen:CA402190269C3809650 615485 Bainbridge-Ropers syndrome;
NM_030632.3(ASXL3):c.4156del (p.Ser1386fs)80816ASXL3Likely pathogenic-1RCV001265436; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132396831323968ATA18:g.31323968_31323968del-
NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs)80816ASXL3Pathogenic-1RCV001265363; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132397531323976GGT18:g.31323975_31323976insT-
NM_030632.3(ASXL3):c.4209_4210CA[1] (p.Thr1404fs)80816ASXL3Pathogenicrs1555744175RCV000521725|RCV001265365; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132402131324022TCAT18:g.31324021_31324022delClinGen:CA658656736
NM_030632.3(ASXL3):c.4215_4216CT[2] (p.Leu1407fs)80816ASXL3Pathogenic/Likely pathogenicrs1555744178RCV000627525|RCV001265438; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132402731324028ACTA18:g.31324027_31324028delClinGen:CA658799034CN517202 not provided;
NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter)80816ASXL3Pathogenic-1RCV001265230; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132413431324134CG18:g.31324134C>G-
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)80816ASXL3Pathogenic/Likely pathogenicrs1555744282RCV000624295|RCV000624922|RCV001249488; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype 183132414231324142CT18:g.31324142C>TClinGen:CA402190683,OMIM:615115.0006
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)80816ASXL3Pathogenicrs1204482456RCV000521692|RCV001265433; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132421131324211CT18:g.31324211C>TClinGen:CA402190826
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs)80816ASXL3Pathogenic/Likely pathogenicrs1599574018RCV001008841|RCV001264798; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132427131324274TCTGAT18:g.31324271_31324274del-
NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)80816ASXL3Pathogenicrs1555744396RCV000598785|RCV001265450; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132431731324318GGCAGAC18:g.31324317_31324318insCAGACClinGen:CA658799035
NM_030632.3(ASXL3):c.4744C>T (p.Gln1582Ter)80816ASXL3not provided-1RCV001249402; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132455631324556CT18:g.31324556C>T-
NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs)80816ASXL3Pathogenic-1RCV001265367; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132471531324716GGA18:g.31324715_31324716insA-
NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del)80816ASXL3Uncertain significance-1RCV001169974; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132539231325403TCATCAGTTCCGGT18:g.31325392_31325403del-
NM_030632.3(ASXL3):c.6165del (p.Lys2055fs)80816ASXL3Likely pathogenicrs1555745616RCV000523154|RCV001265441; NMedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132597331325973CAC18:g.31325973_31325973delClinGen:CA658656739
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)80816ASXL3Benign/Likely benignrs144534810RCV000203181|RCV000949021|RCV000990087; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132601231326012TG18:g.31326012T>GClinGen:CA249391CN169374 not specified;
NM_030632.3(ASXL3):c.6640T>C (p.Ser2214Pro)80816ASXL3Uncertain significancers878853168RCV000224982; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:352577183132645231326452TC18:g.31326452T>CClinGen:CA10581487C3809650 615485 Bainbridge-Ropers syndrome;
GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1339896GADL1Pathogenic-1RCV001265124; NMONDO:MONDO:0014205,MedGen:C3809650,OMIM:615485, Orphanet:35257733086377331433693nana-1-
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