MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Diseases (C)
Parent Node:
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Euthyroid Goiter (C562732)
Parent Node:
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Sertoli-Leydig Cell Tumor (D018310)
..Starting node
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GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)

       Child Nodes:



 Sister Nodes: 
..expandAndroblastoma of ovary (C537588)
..expandArrhenoblastoma--Thyroid Adenoma (C566256)
..expandGOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..expandLeydig Cell Tumor (D007984) Child1
..expandSertoli Cell Tumor (D012707)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5207
Name:GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS
Definition:
Alternative IDs:DO:DOID:0050489
ParentIDs:MESH:C562732|MESH:D018310
TreeNumbers:C04.557.475.750.847/138800 |C04.588.322.455.648/138800 |C04.588.322.762.500/138800 |C04.588.945.440.915.500/138800 |C12.294.260.937.500/138800 |C12.758.409.937.500/138800 |C13.351.500.056.630.705.648/138800 |C13.351.937.418.685.648/138800 |C19.344.410.648/138800
Synonyms:EUTHYROID GOITER |GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION |MNG1 |MULTINODULAR GOITER, ADOLESCENT |SIMPLE GOITER
Slim Mappings:Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: 138800
MeSH: 138800
OMIM: 138800;
MSeqDR LSDB:  
Genes: DICER1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000866Euthyroid multinodular goiter
3 HP:0002895Papillary thyroid carcinoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg)23405DICER1Conflicting interpretations of pathogenicity752116341RCV000474828|RCV000564664|RCV000765190; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0017288,MedGen:C3839822,149555686695556866NC_000014.8:g.95556866T>CClinGen:CA7330599CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.5604-12G>A23405DICER1Benign/Likely benign149841885RCV001117827|RCV001811665|RCV002256684|RCV002480489; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0859046,14955570129555701214:g.95557012C>T-
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)23405DICER1Pathogenic1595314576RCV000023522|RCV000023521|RCV001201154; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|Human Phenotype Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200, Orphanet:64742|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:28434314955575909555759014:g.95557590G>TOMIM:606241.0006C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)23405DICER1Pathogenic1060503625RCV000469249|RCV000762934|RCV002349985|RCV003389645; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|M149555762695557626NC_000014.8:g.95557626G>AClinGen:CA16614268CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.5135dup (p.Leu1712fs)23405DICER1Likely pathogenic2139815576RCV002251249|RCV003151399; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:28434314955604539556045495560453-
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=)23405DICER1Likely benign1890331241RCV001405110|RCV002499866|RCV002341871; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0018445,MedGen:C4748924,OMIM:618272,Orpha14955626499556264995562649-
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr)23405DICER1Uncertain significance370947079RCV000561694|RCV000654444|RCV000765192|RCV003420012; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800,14955627829556278214:g.95562782A>GClinGen:CA7330841CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile)23405DICER1Uncertain significance1454569806RCV000699832|RCV000765193|RCV001022497|RCV003126910|RCV003465610; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295|M149556280895562808NC_000014.8:g.95562808C>T-CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.4292C>T (p.Ala1431Val)23405DICER1Uncertain significance-1RCV002288329|RCV002332962; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016214955629659556296595562965-
NM_177438.3(DICER1):c.4206+17del23405DICER1Benign746189044RCV001661427|RCV001796662|RCV001796661|RCV001661428; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:28434314955661009556610095566099-
NM_177438.3(DICER1):c.4206+9_4206+15del23405DICER1Benign/Likely benign199508452RCV000551344|RCV001662608|RCV001555408|RCV002268170; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MedGen:CN517202|MedGen:CN169374149556610295566108NC_000014.8:g.95566102_95566108delClinGen:CA7330916CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.4206+9G>T23405DICER1Benign/Likely benign1778057RCV000472992|RCV000851470|RCV001660646|RCV003316478; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MedGen:CN169374|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|Human Phenotype Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200,O149556610895566108NC_000014.8:g.95566108C>AClinGen:CA7330925CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.3988del (p.Tyr1330fs)23405DICER1Likely pathogenic1595363945RCV000851465|RCV001292659; NMedGen:CN517202|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955697459556974514:g.95569745_95569745del-
NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr)23405DICER1Uncertain significance761578934RCV000654472|RCV000765194|RCV001021369; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295|M149556984395569843NC_000014.8:g.95569843A>GClinGen:CA7330972CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.3839G>T (p.Ser1280Ile)23405DICER1Uncertain significance1595364485RCV001021258|RCV001068661|RCV001788399; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955698949556989414:g.95569894C>A-
NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg)23405DICER1Conflicting interpretations of pathogenicity764415288RCV000547038|RCV000567535|RCV000765195|RCV003317278; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800,14955700119557001114:g.95570011T>CClinGen:CA7330999CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser)23405DICER1Uncertain significance1288723916RCV000690265|RCV000765196|RCV002257932; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295; MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|M149557015595570155NC_000014.8:g.95570155T>C-CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.3380T>G (p.Ile1127Ser)23405DICER1Conflicting interpretations of pathogenicity567895583RCV000476694|RCV000564833|RCV001292761; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399149557035395570353NC_000014.8:g.95570353A>CClinGen:CA7331047CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)23405DICER1Benign/Likely benign148959399RCV000231354|RCV000563300|RCV001812656|RCV002503917; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0859046,149557146495571464NC_000014.8:g.95571464T>CClinGen:CA7331085CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.3093+1G>A23405DICER1Likely pathogenic-1RCV002857237|RCV003224824; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200, Orphanet:64742; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MO149557201495572014NC_000014.8:g.95572014C>T-
NM_177438.3(DICER1):c.2805-1G>T23405DICER1Pathogenic1595374375RCV000023524|RCV001201069; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:28434314955725619557256114:g.95572561C>AOMIM:606241.0010C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
NM_177438.3(DICER1):c.2685dup (p.Phe896fs)23405DICER1Pathogenic1891565957RCV001194606; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955740639557406414:g.95574063_95574064insT-
NM_177438.3(DICER1):c.2536A>G (p.Ile846Val)23405DICER1Conflicting interpretations of pathogenicity201212908RCV000560280|RCV000566427|RCV000765197|RCV003470775; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800,149557433195574331NC_000014.8:g.95574331T>CClinGen:CA7331225CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe)23405DICER1Conflicting interpretations of pathogenicity387906934RCV000023526|RCV001201061|RCV002426517; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016214955743519557435114:g.95574351G>AClinGen:CA129336,UniProtKB:Q9UPY3#VAR_065301,OMIM:606241.0009C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
NM_177438.3(DICER1):c.2494A>G (p.Lys832Glu)23405DICER1Uncertain significance1060503613RCV000465553|RCV000765198|RCV001015700|RCV003470507; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343; MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295; Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|M149557437395574373NC_000014.8:g.95574373T>CClinGen:CA16614235CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter)23405DICER1Likely pathogenic1595380836RCV000023525|RCV001201008; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:28434314955744109557441014:g.95574410G>COMIM:606241.0008C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)23405DICER1Benign112712209RCV000206250|RCV000245682|RCV000492812|RCV001727634|RCV002494540|RCV003316149; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MOND14955747279557472714:g.95574727C>TClinGen:CA350316CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.2257-2A>G23405DICER1Likely pathogenic2140034081RCV002250920; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955748429557484295574842-
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu)23405DICER1Uncertain significance1595391071RCV000798663|RCV002495058|RCV002424838; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0018445,MedGen:C4748924,OMIM:618272, Orphanet:404476; MONDO:MONDO:0859046,MedGen:C1867234,O14955777009557770014:g.95577700G>A-
NM_177438.3(DICER1):c.2157dup (p.Val720fs)23405DICER1Pathogenic1891948958RCV001292877; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955777529557775395577752-
NM_177438.3(DICER1):c.1908-4A>G23405DICER1Benign/Likely benign112284114RCV000233378|RCV000576056|RCV001722267|RCV002500824; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0859046,149557956595579565NC_000014.8:g.95579565T>CClinGen:CA7331358CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter)23405DICER1Pathogenic754818927RCV000240902|RCV000493744|RCV000851400|RCV001329418; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399149558204195582041NC_000014.8:g.95582041G>AClinGen:CA7331382CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.1377-4T>G23405DICER1Benign/Likely benign192490028RCV000205198|RCV000494354|RCV000499557|RCV001081251|RCV002500657|RCV003316146; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MOND149558409595584095NC_000014.8:g.95584095A>CClinGen:CA349383CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.1377-18T>A23405DICER1Conflicting interpretations of pathogenicity1032236740RCV001918284|RCV002484428; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; Human Phenotype Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200, Orphanet:64742; MO14955841099558410995584109-
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)23405DICER1Benign148758903RCV000231396|RCV000570796|RCV001292801|RCV001201043|RCV002469086|RCV003325952; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MedGen:CN169374|MedGen:C3661900|MOND149559078595590785NC_000014.8:g.95590785G>CClinGen:CA7331526CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.920G>A (p.Arg307His)23405DICER1Conflicting interpretations of pathogenicity149718671RCV000226203|RCV000570173|RCV001555417|RCV002494670|RCV003469171; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0859046,149559098995590989NC_000014.8:g.95590989C>TClinGen:CA7331544CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.873_877del (p.Glu292fs)23405DICER1Pathogenic1595447577RCV000023523; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955929439559294714:g.95592943_95592947delOMIM:606241.0007C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
NM_177438.3(DICER1):c.712del (p.Thr238fs)23405DICER1Pathogenic2140259982RCV002272702; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:27639914955958319559583195595830-
NM_177438.3(DICER1):c.571A>C (p.Lys191Gln)23405DICER1Uncertain significance2140266023RCV001834548|RCV002034690|RCV002343875; NHuman Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016214955963979559639795596397-
NM_177438.3(DICER1):c.359A>T (p.Lys120Met)23405DICER1Uncertain significance1060503608RCV000474331|RCV000566901|RCV000765199; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399; MONDO:MONDO:0017288,MedGen:C3839822,149559792595597925NC_000014.8:g.95597925T>AClinGen:CA16614428CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
NM_177438.3(DICER1):c.128C>T (p.Thr43Met)23405DICER1Conflicting interpretations of pathogenicity367797765RCV000474678|RCV000571554|RCV001292646|RCV003221994|RCV003463969; NMONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MedGen:C3661900|MONDO:MONDO:0018445,149559966895599668NC_000014.8:g.95599668G>AClinGen:CA7331742CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;
MSeqDR Portal