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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Cowden-Like Syndrome (C567337)
Parent Node:
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Diseases (C)
..Starting node
..expand
COWDEN SYNDROME 7 (OMIM:616858)

       Child Nodes:



 Sister Nodes: 
..expand3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
..expand3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)  LSDB  L: 00484;
..expand3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
..expandAARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
..expandABDOMINAL OBESITY-METABOLIC SYNDROME 1 (OMIM:605552)
..expandABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
..expandACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
..expandALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
..expandANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
..expandAnimal Diseases (D000820) Child139
..expandARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
..expandASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
..expandATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
..expandAXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..expandAXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..expandAXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
..expandB-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
..expandBacterial Infections and Mycoses (D001423) Child620
..expandBARAITSER-WINTER SYNDROME 1 (OMIM:243310)
..expandBARAITSER-WINTER SYNDROME 2 (OMIM:614583)
..expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
..expandBREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
..expandCAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..expandCardiovascular Diseases (D002318) Child1025  LSDB C:12
..expandCATEL-MANZKE SYNDROME (OMIM:616145)
..expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..expandChemically-Induced Disorders (D064419) Child111  LSDB C:1
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..expandCHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
..expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..expandCHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)  LSDB  L: 00446;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)  LSDB  L: 00447;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)  LSDB  L: 00443;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)  LSDB  L: 00448;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)  LSDB  L: 00480;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)  LSDB  L: 00639;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)  LSDB  L: 00640;
..expandCongenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) Child4904  LSDB C:68
..expandCONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..expandCOUSIN SYNDROME (OMIM:260660)
..expandCOWDEN SYNDROME 4 (OMIM:615107)
..expandCOWDEN SYNDROME 5 (OMIM:615108)
..expandCOWDEN SYNDROME 6 (OMIM:615109)
..expandCOWDEN SYNDROME 7 (OMIM:616858)
..expandCRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
..expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
..expandD-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
..expandDigestive System Diseases (D004066) Child640  LSDB C:9
..expandDisorders of Environmental Origin (D007280) Child4
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
..expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353)
..expandECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
..expandECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
..expandEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..expandEndocrine System Diseases (D004700) Child742  LSDB C:3
..expandEye Diseases (D005128) Child1278  LSDB C:19
..expandFemale Urogenital Diseases and Pregnancy Complications (D005261) Child962  LSDB C:4
..expandGLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..expandGOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..expandGREENBERG DYSPLASIA (OMIM:215140)
..expandHemic and Lymphatic Diseases (D006425) Child790  LSDB C:1
..expandHYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
..expandHYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
..expandHYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
..expandHYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
..expandHYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
..expandHYPOTRICHOSIS 2 (OMIM:146520)
..expandHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
..expandImmune System Diseases (D007154) Child597  LSDB C:2
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
..expandKERATOSIS PILARIS ATROPHICANS (OMIM:604093)
..expandKLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
..expandL-FERRITIN DEFICIENCY (OMIM:615604)
..expandLISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
..expandLOEYS-DIETZ SYNDROME 2 (OMIM:610168)
..expandMACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
..expandMale Urogenital Diseases (D052801) Child765  LSDB C:4
..expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
..expandMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
..expandMEGALOBLASTIC ANEMIA 1 (OMIM:261100)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 (OMIM:613972)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
..expandMental Disorders (D001523) Child1080  LSDB C:11
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..expandMETHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
..expandMICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
..expandMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)  LSDB  L: 00017;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)  LSDB  L: 00026;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)  LSDB  L: 00030;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)  LSDB  L: 00033;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
..expandMUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
..expandMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
..expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)  LSDB  L: 00044;
..expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMusculoskeletal Diseases (D009140) Child2320  LSDB C:37
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..expandMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..expandMYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
..expandMYOPATHY, SPHEROID BODY (OMIM:182920)
..expandMYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
..expandNAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
..expandNEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, (OMIM:161800)
..expandNeoplasms (D009369) Child1125  LSDB C:1
..expandNEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
..expandNervous System Diseases (D009422) Child3641  LSDB C:86
..expandNESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)  LSDB  L: 00422;
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
..expandNOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
..expandNOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
..expandNutritional and Metabolic Diseases (D009750) Child1518  LSDB C:92
..expandOccupational Diseases (D009784) Child28
..expandOGDEN SYNDROME (OMIM:300855)
..expandOtorhinolaryngologic Diseases (D010038) Child602  LSDB C:11
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
..expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
..expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
..expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
..expandParasitic Diseases (D010272) Child178
..expandPathological Conditions, Signs and Symptoms (D013568) Child3149  LSDB C:40
..expandPITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
..expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
..expandPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
..expandPSEUDO-TORCH SYNDROME 1 (OMIM:251290)
..expandPSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..expandRENAL TUBULAR DYSGENESIS (OMIM:267430)
..expandRespiratory Tract Diseases (D012140) Child422
..expandSCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
..expandSHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
..expandSkin and Connective Tissue Diseases (D017437) Child1491  LSDB C:2
..expandSPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)  LSDB  L: 00083;
..expandSPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
..expandSPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
..expandSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
..expandSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
..expandStomatognathic Diseases (D009057) Child594
..expandTHROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
..expandTHROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
..expandVAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
..expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
..expandVirus Diseases (D014777) Child307
..expandVISCERAL MYOPATHY (OMIM:155310)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWIEDEMANN-STEINER SYNDROME (OMIM:605130)
..expandWITTEVEEN-KOLK SYNDROME (OMIM:613406)
..expandWOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
..expandWounds and Injuries (D014947) Child274
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3102
Name:COWDEN SYNDROME 7
Definition:
Alternative IDs:
ParentIDs:MESH:C567337
TreeNumbers:C04.445.435/C567337/616858 |C04.651.435/C567337/616858 |C04.700.435/C567337/616858 |C16.320.700.435/C567337/616858 |C18.452.660/C567337/616858
Synonyms:CWS7
Slim Mappings:Cancer|Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 616858
MeSH: 616858
OMIM: 616858;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003002Breast carcinoma
3 HP:0030075Ductal carcinoma in situ
4 HP:0000872Hashimoto thyroiditis
5 HP:0001028Hemangioma
6 HP:0200008Intestinal polyposis
7 HP:0000256Macrocephaly
8 HP:0002895Papillary thyroid carcinomaHP:0040284
9 HP:0012844Trichilemmoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)10483SEC23BPathogenicrs121918222RCV000001282|RCV000153924|RCV000688744; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849151918491519CT20:g.18491519C>TClinGen:CA114846,UniProtKB:Q15437#VAR_062294,OMIM:610512.0002C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.66C>T (p.Asn22=)10483SEC23BBenignrs144542988RCV000638850|RCV001514736; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201849154518491545CTNC_000020.10:g.18491545C>TClinGen:CA9777911C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)10483SEC23BConflicting interpretations of pathogenicityrs6045440RCV000153925|RCV000490449|RCV001082004|RCV001335411; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Or201849155318491553CA20:g.18491553C>AClinGen:CA234903C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.123C>T (p.Leu41=)10483SEC23BLikely benignrs554409729RCV000928018|RCV001506299; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201849160218491602CT20:g.18491602C>T-
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)10483SEC23BUncertain significancers2059977897RCV001294294; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849169018491690AC18491690-
NM_006363.6(SEC23B):c.221+3A>G10483SEC23BUncertain significancers777858803RCV001050923; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849170318491703AG20:g.18491703A>G-
NM_006363.6(SEC23B):c.221+76A>G10483SEC23BBenign/Likely benign-1RCV001811858|RCV002074159; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849177618491776AG18491776-
NM_006363.6(SEC23B):c.222-78C>T10483SEC23BUncertain significancers150393520RCV001334543; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849279118492791CT18492791-
NC_000020.11:g.(?_18512225)_(18515736_?)del10483SEC23BPathogenic-1RCV000796123; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849286918496380nana-
NM_006363.6(SEC23B):c.279+18A>T10483SEC23BLikely benign-1RCV002114422; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849294418492944AT18492944-
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)10483SEC23BPathogenicrs121918221RCV000001281|RCV000081407|RCV000688348; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849633918496339GA20:g.18496339G>AClinGen:CA114843,UniProtKB:Q15437#VAR_062296,OMIM:610512.0001C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)10483SEC23BLikely benign-1RCV002213315; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849634218496342TC18496342-
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)10483SEC23BUncertain significancers372784283RCV001351710; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201849637218496372GA18496372-
NM_006363.6(SEC23B):c.367-17T>C10483SEC23BBenign-1RCV002132224; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850506018505060TC18505060-
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)10483SEC23BUncertain significancers140466726RCV001045553; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850514418505144AG20:g.18505144A>G-
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)10483SEC23BBenign/Likely benignrs36023150RCV000081408|RCV000210063|RCV000269836|RCV000560193|RCV001811382; NMedGen:CN169374|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Or201850520018505200GT20:g.18505200G>TClinGen:CA148510,UniProtKB:Q15437#VAR_076424,OMIM:610512.0008C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.519G>A (p.Val173=)10483SEC23BConflicting interpretations of pathogenicityrs138314893RCV000395336|RCV001079079|RCV001141444; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201850522918505229GA20:g.18505229G>AClinGen:CA9778047CN169374 not specified;
NM_006363.6(SEC23B):c.546A>T (p.Gly182=)10483SEC23BUncertain significance-1RCV001917066; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850525618505256AT18505256-
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)10483SEC23BUncertain significancers201160833RCV000178916|RCV001071842|RCV001141445; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201850527918505279GA20:g.18505279G>AClinGen:CA246116CN169374 not specified;
NM_006363.6(SEC23B):c.574A>C (p.Thr192Pro)10483SEC23BUncertain significancers2060118203RCV001331574; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850528418505284AC18505284-
NM_006363.6(SEC23B):c.576_582del (p.Thr192_Lys193insTer)10483SEC23BPathogenic-1RCV001390594; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850528618505292CCAAGGATC18505285-
NM_006363.6(SEC23B):c.604-5_604-4dup10483SEC23BBenign-1RCV001516354; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850556318505564CCTT18505563-
NM_006363.6(SEC23B):c.604-4dup10483SEC23BBenign-1RCV002117852; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850556318505564CCT18505563-
NM_006363.6(SEC23B):c.689+1G>A10483SEC23BPathogenicrs398124226RCV000081409|RCV000689848|RCV001195899; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201850566518505665GA20:g.18505665G>AClinGen:CA222943C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.689+10C>T10483SEC23BBenign/Likely benignrs200020725RCV000877999|RCV001141446|RCV001817048; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN169374201850567418505674CT20:g.18505674C>T-
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)10483SEC23BUncertain significancers748683327RCV001143286|RCV001858939; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850645018506450CA20:g.18506450C>A-
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)10483SEC23BConflicting interpretations of pathogenicityrs146917730RCV001001701|RCV001143287|RCV001516029|RCV001619877; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201850651218506512CT20:g.18506512C>T-
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)10483SEC23BConflicting interpretations of pathogenicityrs534770840RCV000179916|RCV000329540|RCV001509924; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850651518506515AG20:g.18506515A>GClinGen:CA247249C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)10483SEC23BPathogenicrs121918224RCV000001284|RCV001092534|RCV001384733; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850653218506532CT20:g.18506532C>TClinGen:CA114851,OMIM:610512.0004C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.816del (p.Ile272fs)10483SEC23BPathogenicrs1568606490RCV000703264; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850655718506557ATANC_000020.10:g.18506558del-C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)10483SEC23BBenignrs115177758RCV000241602|RCV000365486|RCV000877867|RCV001812730; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202201850655818506558TCNC_000020.10:g.18506558T>CClinGen:CA9778129C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)10483SEC23BUncertain significancers747388303RCV001342153; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850656218506562GA18506562-
NM_006363.6(SEC23B):c.834+14T>C10483SEC23BLikely benign-1RCV002173747; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850659018506590TC18506590-
NM_006363.6(SEC23B):c.834+40T>C10483SEC23BBenign-1RCV001670710|RCV001807500|RCV001807499; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201850661618506616TC18506616-
NM_006363.6(SEC23B):c.834+41G>A10483SEC23BBenign-1RCV001650012|RCV001807479|RCV001807478; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201850661718506617GA18506617-
NM_006363.6(SEC23B):c.834+116A>G10483SEC23BBenign/Likely benign-1RCV001512472|RCV001810744; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202201850669218506692AG18506692-
NM_006363.6(SEC23B):c.835-11C>T10483SEC23BLikely benign-1RCV002147720; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850700618507006CT18507006-
NM_006363.6(SEC23B):c.835-7A>G10483SEC23BBenign/Likely benignrs184484121RCV000877869|RCV001143289|RCV001811531; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202201850701018507010AG20:g.18507010A>G-
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)10483SEC23BUncertain significancers1363436677RCV000821067; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850707218507072CT20:g.18507072C>T-
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)10483SEC23BUncertain significance-1RCV001934399; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850709818507098GA18507098-
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)10483SEC23BUncertain significancers143417821RCV000794676|RCV001772048; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850716718507167GT20:g.18507167G>T-
NM_006363.6(SEC23B):c.993+10C>G10483SEC23BBenignrs201948587RCV000945890|RCV001514484; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201850718518507185CG20:g.18507185C>G-
NM_006363.6(SEC23B):c.993+19G>A10483SEC23BBenign/Likely benignrs144225458RCV000878355|RCV001811532; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201850719418507194GA20:g.18507194G>A-
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)10483SEC23BUncertain significancers2060144762RCV001050924; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850818918508189AG20:g.18508189A>G-
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=)10483SEC23BLikely benign-1RCV001437407; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201850820818508208TC18508208-
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)10483SEC23BConflicting interpretations of pathogenicityrs142461689RCV000275527|RCV000945938|RCV001509049; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201851141218511412TCNC_000020.10:g.18511412T>CClinGen:CA9778252C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1233+4C>T10483SEC23BUncertain significancers201883785RCV000810030|RCV001509051; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201851145118511451CT20:g.18511451C>T-
NM_006363.6(SEC23B):c.1233+9A>G10483SEC23BBenignrs6081189RCV000081398|RCV000330664|RCV001511469|RCV001807019|RCV001636646; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Or201851145618511456AG20:g.18511456A>GClinGen:CA148495C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1234-14_1234-13del10483SEC23BLikely benign-1RCV002099406; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201851329218513293TCAT18513291-
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)10483SEC23BBenign/Likely benignrs41309927RCV000153927|RCV000295373|RCV001518565|RCV001573570; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202201851335018513350GA20:g.18513350G>AClinGen:CA180422,UniProtKB:Q15437#VAR_062303C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)10483SEC23BBenignrs17807673RCV000081399|RCV000317780|RCV001522156|RCV001682777; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201851337218513372CT20:g.18513372C>TClinGen:CA148496,UniProtKB:Q15437#VAR_034482C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)10483SEC23BConflicting interpretations of pathogenicityrs147410912RCV000638851|RCV001509052; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201851629918516299GT20:g.18516299G>TClinGen:CA9778320C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)10483SEC23BConflicting interpretations of pathogenicityrs146587686RCV000282343|RCV000890287|RCV001532448; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201851631718516317GANC_000020.10:g.18516317G>AClinGen:CA9778321C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)10483SEC23BUncertain significance-1RCV001924267; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201851638218516382AG18516382-
NM_006363.6(SEC23B):c.1404+5G>A10483SEC23BLikely pathogenicrs1555789463RCV000638849; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201851639118516391GANC_000020.10:g.18516391G>AClinGen:CA658799346C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1404+20_1404+21del10483SEC23BBenign-1RCV002172968; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201851640618516407CATC18516405-
NM_006363.6(SEC23B):c.1405-7C>T10483SEC23BBenignrs2273525RCV000081400|RCV000337395|RCV000831360|RCV001515711; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852293318522933CT20:g.18522933C>TClinGen:CA148499C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)10483SEC23BUncertain significance-1RCV001939951; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852295018522950CT18522950-
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=)10483SEC23BLikely benign-1RCV001423607; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852295118522951GC18522951-
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)10483SEC23BBenignrs2273526RCV000081401|RCV000378050|RCV001518566|RCV001682778|RCV001807020; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202|MONDO:MONDO:0014802,MedGen:C422517201852300218523002CG20:g.18523002C>GClinGen:CA148500,UniProtKB:Q15437#VAR_020318C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)10483SEC23BUncertain significancers757801115RCV001327523; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852301018523010CT18523010-
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)10483SEC23BBenign/Likely benignrs141588462RCV000250114|RCV000877868|RCV001138957|RCV001812729; NMedGen:CN169374|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202201852301918523019GA20:g.18523019G>AClinGen:CA9778369CN169374 not specified;
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)10483SEC23BUncertain significance-1RCV001966166; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852302118523021AG18523021-
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)10483SEC23BPathogenicrs727504145RCV000153928|RCV000779341|RCV001850108; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201852302418523024CT20:g.18523024C>TUniProtKB:Q15437#VAR_062305,ClinGen:CA234906CN517202 not provided;
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)10483SEC23BBenignrs147036760RCV000081402|RCV000343273|RCV000878592|RCV001811380; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201852303818523038CT20:g.18523038C>TClinGen:CA148503C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)10483SEC23BPathogenicrs1568617456RCV000691489; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852304218523042CTNC_000020.10:g.18523042C>T-C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1512-16_1512-7del10483SEC23BUncertain significancers2060301818RCV001315558; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852364718523656AACTCTGGAATA18523646-
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)10483SEC23BConflicting interpretations of pathogenicityrs138198461RCV000736084|RCV000990293|RCV001509053|RCV000878440; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852366318523663TC20:g.18523663T>CClinGen:CA9778401C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)10483SEC23BLikely benign-1RCV002089001; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852372018523720TC18523720-
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)10483SEC23BLikely benignrs143456757RCV000945878; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201852374618523746GC20:g.18523746G>C-
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)10483SEC23BPathogenic-1RCV001894286; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852375418523754CT18523754-
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)10483SEC23BUncertain significance-1RCV001974454; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852378718523787CT18523787-
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)10483SEC23BLikely benignrs138623580RCV000960427; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852378918523789GA20:g.18523789G>A-
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)10483SEC23BBenign/Likely benignrs111572459RCV000247103|RCV000421047|RCV001078619|RCV001141558; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201852380018523800GA20:g.18523800G>AClinGen:CA9778435C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1665+6T>C10483SEC23BConflicting interpretations of pathogenicityrs371786580RCV000692503|RCV001141559|RCV001811442; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MedGen:CN517202201852382218523822TCNC_000020.10:g.18523822T>C-C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1665+48C>T10483SEC23BBenign-1RCV001612097|RCV001807443|RCV001807442; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201852386418523864CT18523864-
NM_006363.6(SEC23B):c.1666-148G>C10483SEC23BBenign-1RCV002127411; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852645218526452GC18526452-
NM_006363.6(SEC23B):c.1743+168A>G10483SEC23BConflicting interpretations of pathogenicityrs111951711RCV000877909|RCV001509054; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201852684518526845AG20:g.18526845A>G-
NM_006363.6(SEC23B):c.1744-20T>A10483SEC23BBenignrs3736775RCV000081404|RCV001511470|RCV001807022|RCV001682779|RCV001807021; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,201852923318529233TA20:g.18529233T>AClinGen:CA148506CN169374 not specified;
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly)10483SEC23BPathogenicrs752366963RCV000210069; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852929018529290TGNC_000020.10:g.18529290T>GClinGen:CA352452,UniProtKB:Q15437#VAR_076425,OMIM:610512.0007C4225179 616858 Cowden syndrome 7;
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)10483SEC23BConflicting interpretations of pathogenicityrs139882548RCV000308177|RCV000878323; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852931818529318AGNC_000020.10:g.18529318A>GClinGen:CA9778503C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)10483SEC23BLikely benignrs779351917RCV000912846; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201852932418529324CT20:g.18529324C>T-
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=)10483SEC23BLikely benign-1RCV001479099; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201852939318529393CT18529393-
NM_006363.6(SEC23B):c.1992+12T>C10483SEC23BLikely benign-1RCV002171371; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853183118531831TC18531831-
NM_006363.6(SEC23B):c.1993-16G>A10483SEC23BBenign-1RCV002111364; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201853486318534863GA18534863-
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)10483SEC23BUncertain significancers752037101RCV001241508; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853489418534894CT20:g.18534894C>T-
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)10483SEC23BUncertain significance-1RCV001903663; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853489518534895GA18534895-
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)10483SEC23BConflicting interpretations of pathogenicityrs202187007RCV000946264|RCV001141560; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201853491718534917GA20:g.18534917G>A-
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)10483SEC23BBenignrs7262532RCV000081405|RCV000344362|RCV000638852|RCV001689628; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201853494718534947GT20:g.18534947G>TClinGen:CA148507C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)10483SEC23BLikely pathogenic-1RCV002020875; NMONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201853498718534987CT18534987-
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)10483SEC23BUncertain significance-1RCV001963685; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853501218535012AG18535012-
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)10483SEC23BUncertain significancers752664090RCV000799127; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853501518535015CT20:g.18535015C>T-
NM_006363.6(SEC23B):c.2149-21TTG[4]10483SEC23BLikely benign-1RCV002123874; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853573118535733TTTGT18535730-
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)10483SEC23BConflicting interpretations of pathogenicityrs1334741748RCV000779342|RCV001873183; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853575318535753GCGNC_000020.10:g.18535753del-
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)10483SEC23BLikely benignrs1600281875RCV000899105|RCV001419796; NMedGen:CN517202|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201853580218535802GC20:g.18535802G>C-
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn)10483SEC23BUncertain significance-1RCV002012196; NMONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201201854132218541322GA18541322-
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)10483SEC23BConflicting interpretations of pathogenicity-1RCV001509057|RCV002070286; NMedGen:CN517202|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873201854134818541348CT18541348-
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)10483SEC23BBenignrs77945587RCV000081406|RCV000308861|RCV000877918|RCV001811381; NMedGen:CN169374|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201|MedGen:CN517202201854137818541378CT20:g.18541378C>TClinGen:CA222940C0002876 Congenital dyserythropoietic anemia;
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