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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Aortic aneurysm, familial thoracic 3 (C537783)
Parent Node:
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Diseases (C)
..Starting node
..expand
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)

       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:7139
Name:LOEYS-DIETZ SYNDROME 2
Definition:
Alternative IDs:DO:DOID:0050466|DO:DOID:0070234
ParentIDs:MESH:C537783
TreeNumbers:C05.660.207.532/C537783/610168 |C14.907.055.050.362/C537783/610168 |C14.907.055.239.125/C537783/610168 |C14.907.055.239.587/C537783/610168 |C14.907.109.139.125/C537783/610168 |C14.907.109.139.587/C537783/610168 |C16.131.077.537/C537783/610168 |C16.320.510/C5377
Synonyms:AAT3 |AORTIC ANEURYSM, FAMILIAL THORACIC 3 |LDS2 |MARFAN SYNDROME, TYPE II, FORMERLY
Slim Mappings:Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: 610168
MeSH: 610168
OMIM: 610168;
MSeqDR LSDB:  
Genes: TGFBR2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005807Absent distal phalangesHP:0040283
3 HP:0001166Arachnodactyly
4 HP:0002308Arnold-Chiari malformationHP:0040283
5 HP:0004933Ascending aortic dissection
6 HP:0004970Ascending tubular aorta aneurysm
7 HP:0001631Atrial septal defectHP:0040283
8 HP:0001647Bicuspid aortic valveHP:0040283
9 HP:0005182Bicuspid pulmonary valveHP:0040283
10 HP:0000193Bifid uvula
11 HP:0000592Blue sclerae
12 HP:0001156Brachydactyly
13 HP:0012385Camptodactyly
14 HP:0000175Cleft palateHP:0040283
15 HP:0001363CraniosynostosisHP:0040283
16 HP:0010648Dermal translucency
17 HP:0004959Descending thoracic aorta aneurysmHP:0040283
18 HP:0004944Dilatation of the cerebral arteryHP:0040283
19 HP:0001519Disproportionate tall statureHP:0040283
20 HP:0001083Ectopia lentis
21 HP:0000577Exotropia
22 HP:0004955Generalized arterial tortuosity
23 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040283
24 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040283
25 HP:0001425Heterogeneous
26 HP:0000238HydrocephalusHP:0040283
27 HP:0000316Hypertelorism
28 HP:0000023Inguinal herniaHP:0040283
29 HP:0001249Intellectual disabilityHP:0040283
30 HP:0009473Joint contracture of the hand
31 HP:0001388Joint laxity
32 HP:0000272Malar flattening
33 HP:0000347Micrognathia
34 HP:0001634Mitral valve prolapseHP:0040283
35 HP:0000939OsteoporosisHP:0040283
36 HP:0001643Patent ductus arteriosus
37 HP:0000768Pectus carinatum
38 HP:0000767Pectus excavatum
39 HP:0001763Pes planus
40 HP:0010442PolydactylyHP:0040283
41 HP:0100259Postaxial polydactylyHP:0040283
42 HP:0000520Proptosis
43 HP:0003179Protrusio acetabuli
44 HP:0004937Pulmonary artery aneurysm
45 HP:0000278Retrognathia
46 HP:0002650Scoliosis
47 HP:0003302Spondylolisthesis
48 HP:0002108Spontaneous pneumothorax
49 HP:0001065Striae distensae
50 HP:0001159SyndactylyHP:0040283
51 HP:0001762Talipes equinovarus
52 HP:0001537Umbilical herniaHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000003.12:g.30606496C>T7048TGFBR2Uncertain significance-1RCV001147134; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064798830647988CT3:g.30647988C>T-
NM_001024847.2(TGFBR2):c.-371A>C7048TGFBR2Uncertain significancers886058297RCV000306322|RCV000342599|RCV000393157; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064800530648005AC3:g.30648005A>CClinGen:CA10618389
NM_003242.6(TGFBR2):c.-249T>G7048TGFBR2Uncertain significancers886058299RCV000274037|RCV000331422|RCV000383490; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064812730648127TG3:g.30648127T>GClinGen:CA10618390C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.-195G>A7048TGFBR2Uncertain significance-1RCV001148017; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064818130648181GA3:g.30648181G>A-
NM_003242.6(TGFBR2):c.-193G>A7048TGFBR2Uncertain significancers886058301RCV000285652|RCV000342929|RCV000397680; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064818330648183GA3:g.30648183G>AClinGen:CA10615556C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.-128C>G7048TGFBR2Benignrs2306856RCV000303211|RCV000336698|RCV000397686|RCV000830231; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MedGen:CN51720233064824830648248CG3:g.30648248C>GClinGen:CA10616071
NM_003242.6(TGFBR2):c.-122T>G7048TGFBR2Uncertain significance-1RCV001148018; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064825430648254TG3:g.30648254T>G-
NM_003242.6(TGFBR2):c.-26G>A7048TGFBR2Uncertain significance-1RCV001148019; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064835030648350GA3:g.30648350G>A-
NM_003242.6(TGFBR2):c.-18C>A7048TGFBR2Uncertain significancers753369354RCV000274788|RCV000314596|RCV000366965; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033064835830648358CA3:g.30648358C>AClinGen:CA10616073
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)7048TGFBR2Conflicting interpretations of pathogenicityrs878854612RCV000234500|RCV001149561; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833064844430648444GT3:g.30648444G>TClinGen:CA10582145CN118826 Thoracic aortic aneurysm and aortic dissection;
NM_003242.6(TGFBR2):c.94+16293C>A7048TGFBR2Conflicting interpretations of pathogenicityrs138262219RCV000196914|RCV000765719|RCV001088557; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:144|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or33066476230664762CA3:g.30664762C>AClinGen:CA050443CN169374 not specified;
NM_003242.6(TGFBR2):c.95-2A>G7048TGFBR2Conflicting interpretations of pathogenicityrs779131465RCV000013338|RCV001183529; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733068623730686237AG3:g.30686237A>GOMIM:190182.0013C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)7048TGFBR2Uncertain significancers1559458957RCV000768108; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:14433069191130691911GA3:g.30691911G>A-
NM_003242.6(TGFBR2):c.455-4T>A7048TGFBR2Benignrs11466512RCV000037737|RCV000250660|RCV000322117|RCV000374376|RCV000617139; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:CN23073633071312630713126TA3:g.30713126T>AClinGen:CA020769CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)7048TGFBR2Conflicting interpretations of pathogenicityrs780542125RCV000455175|RCV000765720|RCV001149562|RCV001180574|RCV001269947; NMedGen:CN169374|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:144|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orph33071324430713244GA3:g.30713244G>AClinGen:CA049279
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)7048TGFBR2Benign/Likely benignrs56105708RCV000125486|RCV000228364|RCV000313129|RCV000352880|RCV000589501|RCV000617158; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MedGen:CN517202|MedGen:CN23073633071324630713246GA3:g.30713246G>AClinGen:CA020776,UniProtKB:P37173#VAR_017606CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=)7048TGFBR2Uncertain significancers886058305RCV000278879|RCV000317511|RCV000375705; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733071341130713411CT3:g.30713411C>TClinGen:CA10618021
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)7048TGFBR2Uncertain significance-1RCV001258149; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071351030713510TC3:g.30713510T>C-
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)7048TGFBR2Uncertain significancers1553630171RCV000519818|RCV000765721; NMedGen:CN517202|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:14433071358830713588CT3:g.30713588C>TClinGen:CA351808156CN169374 not specified;
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)7048TGFBR2Pathogenicrs28934568RCV000013329; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071359830713598TC3:g.30713598T>CClinGen:CA020791,UniProtKB:P37173#VAR_022351,OMIM:190182.0005C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)7048TGFBR2Uncertain significancers200361387RCV000688154|RCV000765722|RCV000998013; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:144; MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|Med33071361330713613GA3:g.30713613G>A-CN118826 Thoracic aortic aneurysm and aortic dissection;
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)7048TGFBR2Benignrs2229102RCV000037740|RCV000248566|RCV000303261|RCV000393230|RCV000587320|RCV000617143; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:CN517202|MedGen:CN23073633071367430713674AG3:g.30713674A>GClinGen:CA020571CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)7048TGFBR2Pathogenicrs104893812RCV000013332; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071368130713681TA3:g.30713681T>AClinGen:CA020575,UniProtKB:P37173#VAR_022352,OMIM:190182.0008C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)7048TGFBR2Conflicting interpretations of pathogenicityrs104893813RCV000013333|RCV001193761|RCV001253567; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436, Orphanet:10104633071373830713738GC3:g.30713738G>CClinGen:CA020590,UniProtKB:P37173#VAR_022353,OMIM:190182.0009C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)7048TGFBR2Pathogenicrs727504292RCV000154307|RCV000624184|RCV000805236; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733071374230713742GC3:g.30713742G>CClinGen:CA020594
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)7048TGFBR2Pathogenicrs104893814RCV000013334; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071374430713744GT3:g.30713744G>TOMIM:190182.0010,ClinGen:CA020598,UniProtKB:P37173#VAR_022354C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)7048TGFBR2Uncertain significancers755967723RCV000457732|RCV000765724; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:144; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071380130713801GA3:g.30713801G>AClinGen:CA045758
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)7048TGFBR2Uncertain significancers886038960RCV000254401|RCV000765725|RCV001182489; NMedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:144; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or33071388230713882CT3:g.30713882C>TClinGen:CA10587572CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln)7048TGFBR2Uncertain significancers1559467328RCV000680125; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071391330713913TA3:g.30713913T>A-C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1254+8A>G7048TGFBR2Conflicting interpretations of pathogenicityrs200630803RCV000251302|RCV000730508|RCV001149681; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071393730713937AG3:g.30713937A>GClinGen:CA10586858
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)7048TGFBR2Benignrs2228047RCV000030547|RCV000037731|RCV000253560|RCV000370024|RCV000617140; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN23073633071560830715608AG3:g.30715608A>GClinGen:CA020636CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)7048TGFBR2Pathogenicrs104893817RCV000013342; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071561530715615AG3:g.30715615A>GClinGen:CA020640,OMIM:190182.0017C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)7048TGFBR2Pathogenicrs104893818RCV000013343; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071562230715622CT3:g.30715622C>TClinGen:CA020649,OMIM:190182.0018C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)7048TGFBR2Pathogenicrs104893807RCV000013330; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071568830715688CT3:g.30715688C>TClinGen:CA020657,UniProtKB:P37173#VAR_022358,OMIM:190182.0006C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)7048TGFBR2Pathogenicrs104893811RCV000013339|RCV000199227|RCV000252297|RCV000654788; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733071572030715720CT3:g.30715720C>TClinGen:CA020661,UniProtKB:P37173#VAR_029760,OMIM:190182.0014CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)7048TGFBR2Pathogenicrs104893816RCV000013340|RCV000196002|RCV000702388; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN517202|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733071572130715721GA3:g.30715721G>AClinGen:CA020664,UniProtKB:P37173#VAR_029761,OMIM:190182.0015C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)7048TGFBR2Pathogenicrs1553630457RCV000499370; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833071572330715723TC3:g.30715723T>CClinGen:CA351809141C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1397-2A>G7048TGFBR2Pathogenicrs587776770RCV000013341; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833072987430729874AG3:g.30729874A>GClinGen:CA020674,OMIM:190182.0016C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)7048TGFBR2Pathogenic/Likely pathogenicrs863224935RCV000197170|RCV000253606; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN23073633072988730729887TG3:g.30729887T>GClinGen:CA321611CN230736 Cardiovascular phenotype;
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)7048TGFBR2Uncertain significancers767120937RCV000687720|RCV001149682; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833072993830729938AC3:g.30729938A>C-
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)7048TGFBR2Pathogenicrs104893819RCV000013344|RCV000157519|RCV000195964|RCV000253575|RCV000763512; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MedGen:CN517202|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0013695,MedGen:C1860896,OMIM:6143333072996230729962CT3:g.30729962C>TClinGen:CA020690,OMIM:190182.0019C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)7048TGFBR2Conflicting interpretations of pathogenicityrs863223852RCV000199072|RCV000244033|RCV000490801|RCV000680613; NMedGen:CN517202|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0003900,MedGen:C000978233072996830729968CT3:g.30729968C>TOMIM:190182.0020,ClinGen:CA323609
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)7048TGFBR2Pathogenicrs121918715RCV000013327; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073000330730003GA3:g.30730003G>AClinGen:CA020701,OMIM:190182.0004C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1525-10C>G7048TGFBR2Uncertain significancers747069454RCV000266342|RCV000329480|RCV000381883; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073290230732902CG3:g.30732902C>GClinGen:CA10615561
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)7048TGFBR2Uncertain significancers370708687RCV000197820|RCV000660593; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073293330732933AT3:g.30732933A>TClinGen:CA322276
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)7048TGFBR2Pathogenicrs727504421RCV000157520|RCV000225734|RCV000987137|RCV000995668|RCV001042957; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MedGen:CN517202|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C47072433073295730732957GA3:g.30732957G>AClinGen:CA020712C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)7048TGFBR2Pathogenicrs104893810RCV000013337|RCV000197944|RCV000691207|RCV000825631; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN517202|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073296930732969CT3:g.30732969C>TClinGen:CA020726,UniProtKB:P37173#VAR_022360,OMIM:190182.0012
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)7048TGFBR2Pathogenicrs104893815RCV000013335|RCV000013336|RCV000200178|RCV000211858|RCV000654809; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:144|MedGen:CN517202|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,33073297030732970GA3:g.30732970G>AClinGen:CA020730,UniProtKB:P37173#VAR_022361,OMIM:190182.0011C1860896 614331 Hereditary nonpolyposis colorectal cancer type 6;
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)7048TGFBR2Pathogenicrs104893809RCV000013331|RCV000196289|RCV000529794; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN517202|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073299630732996CT3:g.30732996C>TOMIM:190182.0007,ClinGen:CA020742,UniProtKB:P37173#VAR_022362C2674876 610168 Loeys-Dietz syndrome 2;
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)7048TGFBR2Uncertain significancers1559473531RCV000768335; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558; MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331, Orphanet:14433073306930733069GC3:g.30733069G>C-
NM_003242.6(TGFBR2):c.*33A>G7048TGFBR2Uncertain significancers886058306RCV000308057|RCV000352527|RCV000397010; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:55833073312430733124AG3:g.30733124A>GClinGen:CA10618022
NM_003242.6(TGFBR2):c.*86A>G7048TGFBR2Uncertain significancers540602629RCV000272904|RCV000308959|RCV000362787; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073317730733177AG3:g.30733177A>GClinGen:CA10616075
NM_003242.6(TGFBR2):c.*105G>A7048TGFBR2Likely benignrs149112005RCV000264228|RCV000324101|RCV000359039; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073319630733196GA3:g.30733196G>AClinGen:CA10615562
NM_003242.6(TGFBR2):c.*149A>T7048TGFBR2Likely benignrs143024112RCV000260810|RCV000316167|RCV000360310; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073324030733240AT3:g.30733240A>TClinGen:CA10618023
NM_003242.6(TGFBR2):c.*352A>G7048TGFBR2Conflicting interpretations of pathogenicityrs565524213RCV000274324|RCV000333961|RCV000388543; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073344330733443AG3:g.30733443A>GClinGen:CA10618394
NM_003242.6(TGFBR2):c.*407A>G7048TGFBR2Uncertain significance-1RCV001147311; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073349830733498AG3:g.30733498A>G-
NM_003242.6(TGFBR2):c.*443A>G7048TGFBR2Conflicting interpretations of pathogenicityrs188599299RCV000289659|RCV000325930|RCV000385252; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073353430733534AG3:g.30733534A>GClinGen:CA10618027
NM_003242.6(TGFBR2):c.*579T>C7048TGFBR2Uncertain significance-1RCV001148240; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073367030733670TC3:g.30733670T>C-
NM_003242.6(TGFBR2):c.*747C>G7048TGFBR2Benignrs11466531RCV000264298|RCV000329149|RCV000383721; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:55833073383830733838CG3:g.30733838C>GClinGen:CA10618031
NM_003242.6(TGFBR2):c.*799A>G7048TGFBR2Uncertain significancers886058315RCV000280894|RCV000334753|RCV000375333; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073389030733890AG3:g.30733890A>GClinGen:CA10615567
NM_003242.6(TGFBR2):c.*820G>A7048TGFBR2Uncertain significance-1RCV001148241; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073391130733911GA3:g.30733911G>A-
NM_003242.6(TGFBR2):c.*859G>A7048TGFBR2Conflicting interpretations of pathogenicityrs548242538RCV000268242|RCV000323399|RCV000358273; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073395030733950GA3:g.30733950G>AClinGen:CA10618034
NM_003242.6(TGFBR2):c.*988C>T7048TGFBR2Conflicting interpretations of pathogenicityrs138036906RCV000260051|RCV000319870|RCV000373416; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073407930734079CT3:g.30734079C>TClinGen:CA10618396
NM_003242.6(TGFBR2):c.*989G>A7048TGFBR2Uncertain significancers886058316RCV000294069|RCV000349197|RCV000374497; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073408030734080GA3:g.30734080G>AClinGen:CA10616078
NM_003242.6(TGFBR2):c.*1201C>T7048TGFBR2Uncertain significancers886058318RCV000305045|RCV000362049|RCV000396228; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073429230734292CT3:g.30734292C>TClinGen:CA10616080
NM_003242.6(TGFBR2):c.*1207A>G7048TGFBR2Uncertain significance-1RCV001145458; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073429830734298AG3:g.30734298A>G-
NM_003242.6(TGFBR2):c.*1326G>A7048TGFBR2Uncertain significancers886058320RCV000276417|RCV000333917|RCV000381482; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073441730734417GA3:g.30734417G>AClinGen:CA10618399C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.*1327C>G7048TGFBR2Uncertain significance-1RCV001145459; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073441830734418CG3:g.30734418C>G-
NM_003242.6(TGFBR2):c.*1465T>C7048TGFBR2Uncertain significance-1RCV001145460; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073455630734556TC3:g.30734556T>C-
NM_003242.6(TGFBR2):c.*1507A>G7048TGFBR2Likely benignrs139938413RCV000283439|RCV000340835|RCV000404606; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073459830734598AG3:g.30734598A>GClinGen:CA10618035C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.*1521G>A7048TGFBR2Benignrs11466533RCV000286568|RCV000334675|RCV000406495; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073461230734612GA3:g.30734612G>AClinGen:CA10615569C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.*1572A>G7048TGFBR2Uncertain significancers878857301RCV000299627|RCV000356864|RCV000397756; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073466330734663AG3:g.30734663A>GClinGen:CA10616082C2697932 Loeys-Dietz syndrome;
NM_003242.6(TGFBR2):c.*1637G>A7048TGFBR2Uncertain significance-1RCV001147401; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073472830734728GA3:g.30734728G>A-
NM_003242.6(TGFBR2):c.*1715A>G7048TGFBR2Uncertain significance-1RCV001147402; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073480630734806AG3:g.30734806A>G-
NM_003242.6(TGFBR2):c.*1809A>G7048TGFBR2Benignrs6550008RCV000271337|RCV000325335|RCV000363765; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073490030734900AG3:g.30734900A>GClinGen:CA10616083
NM_003242.6(TGFBR2):c.*1815C>T7048TGFBR2Likely benignrs146296952RCV000284331|RCV000328694|RCV000376462; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:55833073490630734906CT3:g.30734906C>TClinGen:CA10616084
NM_003242.6(TGFBR2):c.*1887G>A7048TGFBR2Uncertain significance-1RCV001148326; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073497830734978GA3:g.30734978G>A-
NM_003242.6(TGFBR2):c.*1966A>G7048TGFBR2Uncertain significance-1RCV001148327; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073505730735057AG3:g.30735057A>G-
NM_003242.6(TGFBR2):c.*2065C>T7048TGFBR2Benignrs11466536RCV000288089|RCV000345353|RCV000389525; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073515630735156CT3:g.30735156C>TClinGen:CA10618404
NM_003242.6(TGFBR2):c.*2066G>A7048TGFBR2Conflicting interpretations of pathogenicityrs566913021RCV000310536|RCV000339756|RCV000403210; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:6003033073515730735157GA3:g.30735157G>AClinGen:CA10618058
NM_003242.6(TGFBR2):c.*2085T>A7048TGFBR2Benignrs11466537RCV000304733|RCV000353249|RCV000403022; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138733073517630735176TA3:g.30735176T>AClinGen:CA10618062
NM_003242.6(TGFBR2):c.*2332A>C7048TGFBR2Uncertain significancers886058326RCV000273470|RCV000330823|RCV000387668; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073542330735423AC3:g.30735423A>CClinGen:CA10615579
NM_003242.6(TGFBR2):c.*2335T>A7048TGFBR2Uncertain significancers886058327RCV000276901|RCV000325407|RCV000382398; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073542630735426TA3:g.30735426T>AClinGen:CA10618406
NM_003242.6(TGFBR2):c.*2340T>C7048TGFBR2Uncertain significancers886058328RCV000290329|RCV000328921|RCV000376390; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:55833073543130735431TC3:g.30735431T>CClinGen:CA10616086
NM_003242.6(TGFBR2):c.*2425C>A7048TGFBR2Uncertain significancers886058329RCV000284225|RCV000341621|RCV000404505; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:55833073551630735516CA3:g.30735516C>AClinGen:CA10618407
NM_003276.2(TMPO):c.13C>T (p.Leu5=)7112TMPOLikely benignrs149067616RCV000861422; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890965898909658CT12:g.98909658C>T-
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)7112TMPOUncertain significancers727505279RCV000156808|RCV001063629; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890971598909715AC12:g.98909715A>CClinGen:CA185617CN169374 not specified;
NM_003276.2(TMPO):c.81G>T (p.Leu27=)7112TMPOBenignrs549257131RCV000953852; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890972698909726GT12:g.98909726G>TClinGen:CA6732100
NM_001032283.3(TMPO):c.84G>A (p.Pro28=)7112TMPOUncertain significance-1RCV001203525; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890972998909729GA12:g.98909729G>A-
NM_001032283.3(TMPO):c.87C>T (p.Ala29=)7112TMPOBenignrs114074541RCV000037757|RCV000233654; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890973298909732CT12:g.98909732C>TClinGen:CA134835C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.117G>C (p.Gln39His)7112TMPOUncertain significancers1285673694RCV000529431; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890976298909762GC12:g.98909762G>CClinGen:CA386239477
NM_003276.2(TMPO):c.128A>G (p.Gln43Arg)7112TMPOUncertain significancers371427406RCV000815967; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890977398909773AG12:g.98909773A>G-
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)7112TMPOUncertain significance-1RCV001066134; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890977898909778CT12:g.98909778C>T-
NM_003276.2(TMPO):c.154C>T (p.Pro52Ser)7112TMPOUncertain significancers767796798RCV000620723|RCV000819571; NMedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890979998909799CT12:g.98909799C>TClinGen:CA6732116CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)7112TMPOUncertain significance-1RCV001044444; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890980998909809CT12:g.98909809C>T-
NM_003276.2(TMPO):c.213C>G (p.Arg71=)7112TMPOLikely benignrs910746839RCV000558399; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890985898909858CG12:g.98909858C>GClinGen:CA242826934C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.225G>A (p.Pro75=)7112TMPOBenignrs59027673RCV000155817|RCV000470699|RCV000621886; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736129890987098909870GA12:g.98909870G>AClinGen:CA183565CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.238G>A (p.Gly80Arg)7112TMPOLikely benignrs780142223RCV000983867; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890988398909883GA12:g.98909883G>A-
NM_003276.2(TMPO):c.248C>T (p.Ala83Val)7112TMPOUncertain significancers730880228RCV000157526|RCV000645708; NMONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890989398909893CT12:g.98909893C>TClinGen:CA346707
NM_001032283.3(TMPO):c.252G>T (p.Ala84=)7112TMPOLikely benignrs727504659RCV000155923|RCV000621708|RCV000864212; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890989798909897GT12:g.98909897G>TClinGen:CA183794CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.278G>A (p.Arg93Lys)7112TMPOUncertain significancers1555201635RCV000645709; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129890992398909923GA12:g.98909923G>AClinGen:CA386239793C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)7112TMPOUncertain significance-1RCV001208499; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892170298921702TA12:g.98921702T>A-
NM_003276.2(TMPO):c.350A>G (p.Asn117Ser)7112TMPOLikely benignrs141387097RCV000183966|RCV000226396|RCV000618669; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736129892173498921734AG12:g.98921734A>GClinGen:CA308904CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.373G>A (p.Val125Met)7112TMPOUncertain significance-1RCV001053280; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892175798921757GA12:g.98921757G>A-
NM_001032283.3(TMPO):c.396T>A (p.Gly132=)7112TMPOBenign/Likely benignrs397516844RCV000037752|RCV000475290; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892178098921780TA12:g.98921780T>AClinGen:CA134822CN239310 Dilated Cardiomyopathy, Dominant;
NM_003276.2(TMPO):c.497C>A (p.Ser166Tyr)7112TMPOUncertain significancers147012167RCV000183968|RCV000824153; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892554898925548CA12:g.98925548C>AClinGen:CA308914CN169374 not specified;
NM_003276.2(TMPO):c.529A>G (p.Ser177Gly)7112TMPOUncertain significancers765922156RCV000522550|RCV000792924; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892558098925580AG12:g.98925580A>GClinGen:CA6732222CN169374 not specified;
NM_001032283.3(TMPO):c.534T>C (p.Asn178=)7112TMPOLikely benignrs200016687RCV000037753|RCV000618880|RCV000867585; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892558598925585TC12:g.98925585T>CClinGen:CA134827CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.557A>G (p.Asn186Ser)7112TMPOConflicting interpretations of pathogenicityrs200923649RCV000172125|RCV001088983; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892560898925608AG12:g.98925608A>GClinGen:CA237551
NM_003276.2(TMPO):c.580C>T (p.His194Tyr)7112TMPOUncertain significancers138259721RCV000470219; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892661598926615CT12:g.98926615C>TClinGen:CA6732250
NM_001032283.3(TMPO):c.565+1048G>A7112TMPOUncertain significance-1RCV001071009; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892666498926664GA12:g.98926664G>A-
NM_003276.2(TMPO):c.634A>G (p.Thr212Ala)7112TMPOUncertain significancers769778970RCV000813274; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892666998926669AG12:g.98926669A>G-
NM_003276.2(TMPO):c.659A>G (p.Gln220Arg)7112TMPOUncertain significancers774074641RCV000645713; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892669498926694AG12:g.98926694A>GClinGen:CA6732261
NM_001032283.3(TMPO):c.565+1104A>C7112TMPOUncertain significance-1RCV001225675; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892672098926720AC12:g.98926720A>C-
NM_001032283.3(TMPO):c.565+1105C>T7112TMPOBenign/Likely benignrs138790561RCV000154856|RCV000172595|RCV000617893|RCV001080218; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892672198926721CT12:g.98926721C>TClinGen:CA181537CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.688C>T (p.Arg230Cys)7112TMPOUncertain significancers750751621RCV000689296; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892672398926723CT12:g.98926723C>T-
NM_003276.2(TMPO):c.695C>T (p.Pro232Leu)7112TMPOUncertain significancers754944353RCV000807713; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892673098926730CT12:g.98926730C>T-
NM_001032283.3(TMPO):c.565+1128G>A7112TMPOUncertain significance-1RCV001224453; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892674498926744GA12:g.98926744G>A-
NM_001032283.3(TMPO):c.565+1132T>G7112TMPOBenignrs35998138RCV000030557|RCV000037754|RCV000244076|RCV000467116; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892674898926748TG12:g.98926748T>GClinGen:CA282436,UniProtKB:P42166#VAR_049773C0878544 Cardiomyopathy;
NM_003276.2(TMPO):c.767T>A (p.Leu256His)7112TMPOUncertain significancers146364154RCV000183956|RCV001049700; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892680298926802TA12:g.98926802T>AClinGen:CA308887CN169374 not specified;
NM_003276.2(TMPO):c.794G>A (p.Gly265Glu)7112TMPOUncertain significancers368211058RCV000461720|RCV000487398; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN517202129892682998926829GA12:g.98926829G>AClinGen:CA6732287
NM_003276.2(TMPO):c.813C>T (p.Ala271=)7112TMPOLikely benignrs369897433RCV000229673|RCV000780777; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN169374129892684898926848CT12:g.98926848C>TClinGen:CA6732289
NM_001032283.3(TMPO):c.565+1240G>A7112TMPOBenign/Likely benignrs139700737RCV000037755|RCV000172596|RCV000242352|RCV001081889; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892685698926856GA12:g.98926856G>AClinGen:CA134832CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.565+1257T>C7112TMPOUncertain significance-1RCV001210437; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892687398926873TC12:g.98926873T>C-
NM_001032283.3(TMPO):c.565+1260A>C7112TMPOUncertain significance-1RCV001065544; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892687698926876AC12:g.98926876A>C-
NM_001032283.3(TMPO):c.565+1275A>G7112TMPOUncertain significance-1RCV001051308; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892689198926891AG12:g.98926891A>G-
NM_003276.2(TMPO):c.863T>C (p.Leu288Ser)7112TMPOUncertain significancers886049912RCV000550918; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892689898926898TC12:g.98926898T>CClinGen:CA10643591
NM_001032283.3(TMPO):c.565+1296T>G7112TMPOBenignrs35645287RCV000030558|RCV000037756|RCV000249431|RCV000463882; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892691298926912TG12:g.98926912T>GClinGen:CA282439,UniProtKB:P42166#VAR_049774C0878544 Cardiomyopathy;
NM_001032283.3(TMPO):c.565+1297C>T7112TMPOUncertain significance-1RCV001037550; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892691398926913CT12:g.98926913C>T-
NM_003276.2(TMPO):c.879G>A (p.Ser293=)7112TMPOBenign/Likely benignrs370939324RCV000604148|RCV000865564; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892691498926914GA12:g.98926914G>AClinGen:CA6732306CN169374 not specified;
NM_001032283.3(TMPO):c.565+1301A>G7112TMPOLikely benignrs375249647RCV000037758|RCV000645711; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892691798926917AG12:g.98926917A>GClinGen:CA134840C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.885T>A (p.Ser295=)7112TMPOLikely benignrs142500409RCV000524814; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892692098926920TA12:g.98926920T>AClinGen:CA6732307
NM_003276.2(TMPO):c.891G>C (p.Gln297His)7112TMPOUncertain significancers779961791RCV000815281; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892692698926926GC12:g.98926926G>C-
NM_003276.2(TMPO):c.898C>T (p.His300Tyr)7112TMPOUncertain significancers376074187RCV000539377; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892693398926933CT12:g.98926933C>TClinGen:CA6732309C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.565+1318A>G7112TMPOUncertain significance-1RCV001232526; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892693498926934AG12:g.98926934A>G-
NM_003276.2(TMPO):c.901A>C (p.Ser301Arg)7112TMPOUncertain significancers747613142RCV000804962; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892693698926936AC12:g.98926936A>C-
NM_001032283.3(TMPO):c.565+1327T>C7112TMPOUncertain significance-1RCV001223153; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892694398926943TC12:g.98926943T>C-
NM_001032283.3(TMPO):c.565+1328G>T7112TMPOUncertain significancers369208265RCV000152054|RCV000815161; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892694498926944GT12:g.98926944G>TClinGen:CA178234CN169374 not specified;
NM_001032283.3(TMPO):c.565+1344G>C7112TMPOBenignrs114939776RCV000037759|RCV000227357|RCV000253637; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736129892696098926960GC12:g.98926960G>CClinGen:CA282442CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.565+1369C>G7112TMPOBenignrs35969221RCV000030559|RCV000037760|RCV000249056|RCV000456911; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892698598926985CG12:g.98926985C>GClinGen:CA282445,UniProtKB:P42166#VAR_049775C0878544 Cardiomyopathy;
NM_003276.2(TMPO):c.955A>C (p.Thr319Pro)7112TMPOUncertain significancers760685984RCV000549718; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892699098926990AC12:g.98926990A>CClinGen:CA6732320C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.994A>G (p.Arg332Gly)7112TMPOLikely benignrs57670957RCV000600946|RCV000864090; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892702998927029AG12:g.98927029A>GClinGen:CA6732335CN169374 not specified;
NM_003276.2(TMPO):c.1030A>G (p.Arg344Gly)7112TMPOUncertain significancers754951098RCV000696856; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892706598927065AG12:g.98927065A>G-
NM_003276.2(TMPO):c.1048C>T (p.Gln350Ter)7112TMPOUncertain significancers200124801RCV000645710; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892708398927083CT12:g.98927083C>TClinGen:CA6732348C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.1050A>G (p.Gln350=)7112TMPOLikely benignrs147812883RCV000422751|RCV000645716; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892708598927085AG12:g.98927085A>GClinGen:CA6732350C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.565+1471C>T7112TMPOUncertain significance-1RCV001066943; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892708798927087CT12:g.98927087C>T-
NM_003276.2(TMPO):c.1066A>G (p.Lys356Glu)7112TMPOUncertain significancers730880229RCV000157528|RCV000687239; NMONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892710198927101AG12:g.98927101A>GClinGen:CA346716
NM_003276.2(TMPO):c.1155G>A (p.Leu385=)7112TMPOConflicting interpretations of pathogenicityrs756784841RCV000431954|RCV000808076; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892719098927190GA12:g.98927190G>AClinGen:CA6732370CN169374 not specified;
NM_003276.2(TMPO):c.1156G>A (p.Val386Ile)7112TMPOUncertain significancers1060502980RCV000475688; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892719198927191GA12:g.98927191G>AClinGen:CA16614205
NM_003276.2(TMPO):c.1198A>G (p.Met400Val)7112TMPOUncertain significancers771185259RCV000183963|RCV000468616|RCV000620541; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736129892723398927233AG12:g.98927233A>GClinGen:CA308896CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.565+1623C>G7112TMPOUncertain significance-1RCV001246367; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892723998927239CG12:g.98927239C>G-
NM_001032283.3(TMPO):c.565+1641A>G7112TMPOConflicting interpretations of pathogenicityrs143232629RCV000852681|RCV001047321|RCV000154857; NHuman Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN169374129892725798927257AG12:g.98927257A>GClinGen:CA181540CN239310 Dilated Cardiomyopathy, Dominant;
NM_003276.2(TMPO):c.1235T>C (p.Ile412Thr)7112TMPOUncertain significancers753527126RCV000688687; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892727098927270TC12:g.98927270T>CClinGen:CA6732386
NM_001032283.3(TMPO):c.565+1662T>G7112TMPOUncertain significance-1RCV001243793; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892727898927278TG12:g.98927278T>G-
NM_001032283.3(TMPO):c.565+1665A>G7112TMPOBenignrs11838270RCV000037741|RCV000243720|RCV000625187|RCV000756788|RCV001082038; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0000911,MedGen:C3151039, Orphanet:154|MedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892728198927281AG12:g.98927281A>GClinGen:CA282427,UniProtKB:P42166#VAR_049776CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.565+1728G>C7112TMPOBenign/Likely benignrs145703021RCV000154858|RCV000228189|RCV000249604|RCV000852683; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,129892734498927344GC12:g.98927344G>CClinGen:CA181543CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.1329T>A (p.Gly443=)7112TMPOLikely benignrs138388686RCV000468859|RCV000608446|RCV000618117; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN169374|MedGen:CN230736129892736498927364TA12:g.98927364T>AClinGen:CA6732398
NM_003276.2(TMPO):c.1331C>G (p.Ser444Cys)7112TMPOLikely benignrs142981381RCV000172598|RCV001078669; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892736698927366CG12:g.98927366C>GClinGen:CA238438CN517202 not provided;
NM_003276.2(TMPO):c.1355C>G (p.Pro452Arg)7112TMPOUncertain significancers762576951RCV000560544; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892739098927390CG12:g.98927390C>GClinGen:CA386153021C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.1405C>G (p.Leu469Val)7112TMPOUncertain significancers373861992RCV000172129|RCV000803995; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892744098927440CG12:g.98927440C>GClinGen:CA237565CN239310 Dilated Cardiomyopathy, Dominant;
NM_001032283.3(TMPO):c.565+1848G>A7112TMPOUncertain significancers34301677RCV000152055|RCV000529930; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892746498927464GA12:g.98927464G>AClinGen:CA178237C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.565+1853G>C7112TMPOBenignrs35761089RCV000030556|RCV000037742|RCV000253577|RCV000458709; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892746998927469GC12:g.98927469G>CClinGen:CA282430,UniProtKB:P42166#VAR_049777C0878544 Cardiomyopathy;
NM_003276.2(TMPO):c.1453A>G (p.Ile485Val)7112TMPOUncertain significancers1060502979RCV000463407; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892748898927488AG12:g.98927488A>GClinGen:CA16613784
NM_001032283.3(TMPO):c.565+1878G>A7112TMPOUncertain significance-1RCV001045543; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892749498927494GA12:g.98927494G>A-
NM_001032283.3(TMPO):c.565+1890T>G7112TMPOBenignrs80325832RCV000037743|RCV000232151|RCV000244520; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736129892750698927506TG12:g.98927506T>GClinGen:CA134799CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.1492A>G (p.Ile498Val)7112TMPOUncertain significancers754188509RCV000695906; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892752798927527AG12:g.98927527A>G-
NM_003276.2(TMPO):c.1539G>T (p.Leu513=)7112TMPOLikely benignrs143845319RCV000544549|RCV000611758|RCV000620869; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN169374|MedGen:CN230736129892757498927574GT12:g.98927574G>TClinGen:CA6732429CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.565+2019C>A7112TMPOUncertain significance-1RCV001066525; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892763598927635CA12:g.98927635C>A-
NM_001032283.3(TMPO):c.565+2051T>A7112TMPOBenignrs12316677RCV000037746|RCV000225854|RCV000248469; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN230736129892766798927667TA12:g.98927667T>AClinGen:CA134808CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.1673C>A (p.Thr558Asn)7112TMPOUncertain significancers563175204RCV000645712|RCV000786223; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN517202129892770898927708CA12:g.98927708C>AClinGen:CA6732457
NM_003276.2(TMPO):c.1683C>A (p.Cys561Ter)7112TMPOUncertain significancers764177808RCV000645707; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892771898927718CA12:g.98927718C>AClinGen:CA386153712C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.1716A>G (p.Ala572=)7112TMPOConflicting interpretations of pathogenicityrs1284474609RCV000613304|RCV001209623; NMedGen:CN169374|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892775198927751AG12:g.98927751A>GClinGen:CA481585126CN169374 not specified;
NM_001032283.3(TMPO):c.565+2149C>T7112TMPOConflicting interpretations of pathogenicityrs34150443RCV000213669|RCV000620388|RCV000645717; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892776598927765CT12:g.98927765C>TClinGen:CA6732469
NM_003276.2(TMPO):c.1753C>T (p.His585Tyr)7112TMPOUncertain significancers1565812072RCV000703152; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892778898927788CT12:g.98927788C>T-
NM_003276.2(TMPO):c.1777A>G (p.Met593Val)7112TMPOUncertain significancers369840957RCV000698601; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892781298927812AG12:g.98927812A>G-
NM_001032283.3(TMPO):c.565+2224A>G7112TMPOLikely benignrs34983516RCV000154859|RCV000251870|RCV000865214; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892784098927840AG12:g.98927840A>GClinGen:CA181546CN230736 Cardiovascular phenotype;
NM_003276.2(TMPO):c.1817C>G (p.Ser606Ter)7112TMPOUncertain significancers746645331RCV000645715; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892785298927852CG12:g.98927852C>GClinGen:CA6732490
NM_003276.2(TMPO):c.1828C>T (p.Arg610Cys)7112TMPOUncertain significancers369379490RCV000692559; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892786398927863CT12:g.98927863C>T-
NM_003276.2(TMPO):c.1829G>A (p.Arg610His)7112TMPOUncertain significancers150445385RCV000475759; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892786498927864GA12:g.98927864G>AClinGen:CA6732495
NM_003276.2(TMPO):c.1834C>T (p.His612Tyr)7112TMPOUncertain significancers201929673RCV000645714; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892786998927869CT12:g.98927869C>TClinGen:CA6732496C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.565+2260C>T7112TMPOUncertain significance-1RCV001056508; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892787698927876CT12:g.98927876C>T-
NM_003276.2(TMPO):c.1849A>T (p.Ile617Phe)7112TMPOUncertain significancers759832690RCV000183970|RCV000617206|RCV001202094; NMedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892788498927884AT12:g.98927884A>TClinGen:CA308919CN230736 Cardiovascular phenotype;
NM_001032283.3(TMPO):c.565+2280A>G7112TMPOUncertain significance-1RCV001211910; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892789698927896AG12:g.98927896A>G-
NM_001032283.2(TMPO):c.565+2284_565+2285del7112TMPOUncertain significancers767209319RCV000559367; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892789898927899CATC12:g.98927898_98927899delClinGen:CA6732501C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.1882A>G (p.Ile628Val)7112TMPOUncertain significancers765153747RCV000522424|RCV000810881; NMedGen:CN517202|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892791798927917AG12:g.98927917A>GClinGen:CA6732510CN169374 not specified;
NM_003276.2(TMPO):c.1927A>G (p.Met643Val)7112TMPOUncertain significancers1565812255RCV000698079; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892796298927962AG12:g.98927962A>G-C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.1934A>G (p.Asn645Ser)7112TMPOUncertain significancers1335078305RCV000814935; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892796998927969AG12:g.98927969A>G-
NM_001032283.2(TMPO):c.565+2369_565+2371del7112TMPOUncertain significancers755715445RCV000701485; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892798198927983GGTCG12:g.98927981_98927983del-
NM_001032283.3(TMPO):c.565+2376C>T7112TMPOConflicting interpretations of pathogenicityrs202035749RCV000037750|RCV000839110|RCV000852685|RCV001087301; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892799298927992CT12:g.98927992C>TClinGen:CA134817C2674876 610168 Loeys-Dietz syndrome 2;
NM_001032283.3(TMPO):c.565+2381G>C7112TMPOUncertain significance-1RCV001239717; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892799798927997GC12:g.98927997G>C-
NM_003276.2(TMPO):c.1968G>A (p.Lys656=)7112TMPOBenign/Likely benignrs201034441RCV000538101|RCV000780776; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558|MedGen:CN169374129892800398928003GA12:g.98928003G>AClinGen:CA6732522
NM_003276.2(TMPO):c.1980T>A (p.Ile660=)7112TMPOLikely benignrs576517565RCV000548419; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892801598928015TA12:g.98928015T>AClinGen:CA6732525C2674876 610168 Loeys-Dietz syndrome 2;
NM_003276.2(TMPO):c.1983T>C (p.Asn661=)7112TMPOLikely benignrs1592947011RCV000934886; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892801898928018TC12:g.98928018T>C-
NM_003276.2(TMPO):c.1990T>G (p.Ser664Ala)7112TMPOUncertain significancers759247844RCV000687977; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892802598928025TG12:g.98928025T>G-
NM_003276.2(TMPO):c.2048T>A (p.Val683Glu)7112TMPOUncertain significancers767216575RCV000229833; NMONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168, Orphanet:558129892808398928083TA12:g.98928083T>AClinGen:CA6732527
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