Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 752116341 | RCV000474828|RCV000564664|RCV000765190; | N | MONDO: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, | 14 | 95556866 | 95556866 | | | NC_000014.8:g.95556866T>C | ClinGen:CA7330599 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.5604-12G>A | 23405 | DICER1 | Benign/Likely benign | 149841885 | RCV001117827|RCV001811665|RCV002256684|RCV002480489; | N | MONDO: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, | 14 | 95557012 | 95557012 | | | 14:g.95557012C>T | - | | |
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) | 23405 | DICER1 | Pathogenic | 1595314576 | RCV000023522|RCV000023521|RCV001201154; | N | 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|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343 | 14 | 95557590 | 95557590 | | | 14:g.95557590G>T | OMIM:606241.0006 | C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; | |
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) | 23405 | DICER1 | Pathogenic | 1060503625 | RCV000469249|RCV000762934|RCV002349985|RCV003389645; | N | MONDO: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|M | 14 | 95557626 | 95557626 | | | NC_000014.8:g.95557626G>A | ClinGen:CA16614268 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.5135dup (p.Leu1712fs) | 23405 | DICER1 | Likely pathogenic | 2139815576 | RCV002251249|RCV003151399; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343 | 14 | 95560453 | 95560454 | | | 95560453 | - | | |
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=) | 23405 | DICER1 | Likely benign | 1890331241 | RCV001405110|RCV002499866|RCV002341871; | N | 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; MONDO:MONDO:0018445,MedGen:C4748924,OMIM:618272,Orpha | 14 | 95562649 | 95562649 | | | 95562649 | - | | |
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr) | 23405 | DICER1 | Uncertain significance | 370947079 | RCV000561694|RCV000654444|RCV000765192|RCV003420012; | N | MONDO: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, | 14 | 95562782 | 95562782 | | | 14:g.95562782A>G | ClinGen:CA7330841 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile) | 23405 | DICER1 | Uncertain significance | 1454569806 | RCV000699832|RCV000765193|RCV001022497|RCV003126910|RCV003465610; | N | MONDO: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|M | 14 | 95562808 | 95562808 | | | NC_000014.8:g.95562808C>T | - | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.4292C>T (p.Ala1431Val) | 23405 | DICER1 | Uncertain significance | -1 | RCV002288329|RCV002332962; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 14 | 95562965 | 95562965 | | | 95562965 | - | | |
NM_177438.3(DICER1):c.4206+17del | 23405 | DICER1 | Benign | 746189044 | RCV001661427|RCV001796662|RCV001796661|RCV001661428; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343 | 14 | 95566100 | 95566100 | | | 95566099 | - | | |
NM_177438.3(DICER1):c.4206+9_4206+15del | 23405 | DICER1 | Benign/Likely benign | 199508452 | RCV000551344|RCV001662608|RCV001555408|RCV002268170; | N | MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MedGen:CN517202|MedGen:CN169374 | 14 | 95566102 | 95566108 | | | NC_000014.8:g.95566102_95566108del | ClinGen:CA7330916 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.4206+9G>T | 23405 | DICER1 | Benign/Likely benign | 1778057 | RCV000472992|RCV000851470|RCV001660646|RCV003316478; | N | MONDO: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,O | 14 | 95566108 | 95566108 | | | NC_000014.8:g.95566108C>A | ClinGen:CA7330925 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.3988del (p.Tyr1330fs) | 23405 | DICER1 | Likely pathogenic | 1595363945 | RCV000851465|RCV001292659; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399 | 14 | 95569745 | 95569745 | | | 14:g.95569745_95569745del | - | | |
NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr) | 23405 | DICER1 | Uncertain significance | 761578934 | RCV000654472|RCV000765194|RCV001021369; | N | 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, Orphanet:276399; MONDO:MONDO:0859046,MedGen:C1867234,OMIM:180295|M | 14 | 95569843 | 95569843 | | | NC_000014.8:g.95569843A>G | ClinGen:CA7330972 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.3839G>T (p.Ser1280Ile) | 23405 | DICER1 | Uncertain significance | 1595364485 | RCV001021258|RCV001068661|RCV001788399; | N | 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, Orphanet:276399 | 14 | 95569894 | 95569894 | | | 14:g.95569894C>A | - | | |
NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 764415288 | RCV000547038|RCV000567535|RCV000765195|RCV003317278; | N | MONDO: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, | 14 | 95570011 | 95570011 | | | 14:g.95570011T>C | ClinGen:CA7330999 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser) | 23405 | DICER1 | Uncertain significance | 1288723916 | RCV000690265|RCV000765196|RCV002257932; | N | MONDO: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|M | 14 | 95570155 | 95570155 | | | NC_000014.8:g.95570155T>C | - | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.3380T>G (p.Ile1127Ser) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 567895583 | RCV000476694|RCV000564833|RCV001292761; | N | MONDO: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 | 14 | 95570353 | 95570353 | | | NC_000014.8:g.95570353A>C | ClinGen:CA7331047 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) | 23405 | DICER1 | Benign/Likely benign | 148959399 | RCV000231354|RCV000563300|RCV001812656|RCV002503917; | N | MONDO: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, | 14 | 95571464 | 95571464 | | | NC_000014.8:g.95571464T>C | ClinGen:CA7331085 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.3093+1G>A | 23405 | DICER1 | Likely pathogenic | -1 | RCV002857237|RCV003224824; | N | MONDO: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; MO | 14 | 95572014 | 95572014 | | | NC_000014.8:g.95572014C>T | - | | |
NM_177438.3(DICER1):c.2805-1G>T | 23405 | DICER1 | Pathogenic | 1595374375 | RCV000023524|RCV001201069; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343 | 14 | 95572561 | 95572561 | | | 14:g.95572561C>A | OMIM:606241.0010 | C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; | |
NM_177438.3(DICER1):c.2685dup (p.Phe896fs) | 23405 | DICER1 | Pathogenic | 1891565957 | RCV001194606; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399 | 14 | 95574063 | 95574064 | | | 14:g.95574063_95574064insT | - | | |
NM_177438.3(DICER1):c.2536A>G (p.Ile846Val) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 201212908 | RCV000560280|RCV000566427|RCV000765197|RCV003470775; | N | MONDO: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, | 14 | 95574331 | 95574331 | | | NC_000014.8:g.95574331T>C | ClinGen:CA7331225 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 387906934 | RCV000023526|RCV001201061|RCV002426517; | N | Human 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:140162 | 14 | 95574351 | 95574351 | | | 14:g.95574351G>A | ClinGen:CA129336,UniProtKB:Q9UPY3#VAR_065301,OMIM:606241.0009 | C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; | |
NM_177438.3(DICER1):c.2494A>G (p.Lys832Glu) | 23405 | DICER1 | Uncertain significance | 1060503613 | RCV000465553|RCV000765198|RCV001015700|RCV003470507; | N | MONDO: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|M | 14 | 95574373 | 95574373 | | | NC_000014.8:g.95574373T>C | ClinGen:CA16614235 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter) | 23405 | DICER1 | Likely pathogenic | 1595380836 | RCV000023525|RCV001201008; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399|MONDO:MONDO:0017288,MedGen:C3839822, Orphanet:284343 | 14 | 95574410 | 95574410 | | | 14:g.95574410G>C | OMIM:606241.0008 | C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; | |
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) | 23405 | DICER1 | Benign | 112712209 | RCV000206250|RCV000245682|RCV000492812|RCV001727634|RCV002494540|RCV003316149; | N | MONDO: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; MOND | 14 | 95574727 | 95574727 | | | 14:g.95574727C>T | ClinGen:CA350316 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.2257-2A>G | 23405 | DICER1 | Likely pathogenic | 2140034081 | RCV002250920; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399 | 14 | 95574842 | 95574842 | | | 95574842 | - | | |
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu) | 23405 | DICER1 | Uncertain significance | 1595391071 | RCV000798663|RCV002495058|RCV002424838; | N | MONDO: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,O | 14 | 95577700 | 95577700 | | | 14:g.95577700G>A | - | | |
NM_177438.3(DICER1):c.2157dup (p.Val720fs) | 23405 | DICER1 | Pathogenic | 1891948958 | RCV001292877; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399 | 14 | 95577752 | 95577753 | | | 95577752 | - | | |
NM_177438.3(DICER1):c.1908-4A>G | 23405 | DICER1 | Benign/Likely benign | 112284114 | RCV000233378|RCV000576056|RCV001722267|RCV002500824; | N | MONDO: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, | 14 | 95579565 | 95579565 | | | NC_000014.8:g.95579565T>C | ClinGen:CA7331358 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter) | 23405 | DICER1 | Pathogenic | 754818927 | RCV000240902|RCV000493744|RCV000851400|RCV001329418; | N | MONDO: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 | 14 | 95582041 | 95582041 | | | NC_000014.8:g.95582041G>A | ClinGen:CA7331382 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.1377-4T>G | 23405 | DICER1 | Benign/Likely benign | 192490028 | RCV000205198|RCV000494354|RCV000499557|RCV001081251|RCV002500657|RCV003316146; | N | MedGen: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; MOND | 14 | 95584095 | 95584095 | | | NC_000014.8:g.95584095A>C | ClinGen:CA349383 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.1377-18T>A | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 1032236740 | RCV001918284|RCV002484428; | N | MONDO: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; MO | 14 | 95584109 | 95584109 | | | 95584109 | - | | |
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) | 23405 | DICER1 | Benign | 148758903 | RCV000231396|RCV000570796|RCV001292801|RCV001201043|RCV002469086|RCV003325952; | N | MONDO: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|MOND | 14 | 95590785 | 95590785 | | | NC_000014.8:g.95590785G>C | ClinGen:CA7331526 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.920G>A (p.Arg307His) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 149718671 | RCV000226203|RCV000570173|RCV001555417|RCV002494670|RCV003469171; | N | MONDO: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, | 14 | 95590989 | 95590989 | | | NC_000014.8:g.95590989C>T | ClinGen:CA7331544 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.873_877del (p.Glu292fs) | 23405 | DICER1 | Pathogenic | 1595447577 | RCV000023523; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399 | 14 | 95592943 | 95592947 | | | 14:g.95592943_95592947del | OMIM:606241.0007 | C0018022 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; | |
NM_177438.3(DICER1):c.712del (p.Thr238fs) | 23405 | DICER1 | Pathogenic | 2140259982 | RCV002272702; | N | Human Phenotype Ontology:HP:0009798,MONDO:MONDO:0007681,MedGen:C0302859,OMIM:138800, Orphanet:276399 | 14 | 95595831 | 95595831 | | | 95595830 | - | | |
NM_177438.3(DICER1):c.571A>C (p.Lys191Gln) | 23405 | DICER1 | Uncertain significance | 2140266023 | RCV001834548|RCV002034690|RCV002343875; | N | Human 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:140162 | 14 | 95596397 | 95596397 | | | 95596397 | - | | |
NM_177438.3(DICER1):c.359A>T (p.Lys120Met) | 23405 | DICER1 | Uncertain significance | 1060503608 | RCV000474331|RCV000566901|RCV000765199; | N | MONDO: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, | 14 | 95597925 | 95597925 | | | NC_000014.8:g.95597925T>A | ClinGen:CA16614428 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |
NM_177438.3(DICER1):c.128C>T (p.Thr43Met) | 23405 | DICER1 | Conflicting interpretations of pathogenicity | 367797765 | RCV000474678|RCV000571554|RCV001292646|RCV003221994|RCV003463969; | N | MONDO: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, | 14 | 95599668 | 95599668 | | | NC_000014.8:g.95599668G>A | ClinGen:CA7331742 | CN072455 601200 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; | |