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Parent Node:
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Paraganglioma (D010235)
..Starting node
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PARAGANGLIOMAS 4 (OMIM:115310)

       Child Nodes:



 Sister Nodes: 
..expandCarney-Stratakis Syndrome (C564650)
..expandParaganglioma, Extra-Adrenal (D010236) Child6
..expandParagangliomas 2 (C566646)
..expandParagangliomas 3 (C565335)
..expandPARAGANGLIOMAS 4 (OMIM:115310)
..expandPARAGANGLIOMAS 5 (OMIM:614165)
..expandParagangliomas with Sensorineural Hearing Loss (C566831)
..expandPheochromocytoma (D010673) Child2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9482
Name:PARAGANGLIOMAS 4
Definition:
Alternative IDs:DO:DOID:0050773
ParentIDs:MESH:D010235
TreeNumbers:C04.557.465.625.650.700/115310 |C04.557.580.625.650.700/115310
Synonyms:CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS |PARAGANGLIOMA, FAMILIAL MALIGNANT |PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL |PGL4 |PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA |PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL
Slim Mappings:Cancer
Reference: MedGen: 115310
MeSH: 115310
OMIM: 115310;
MSeqDR LSDB:  
Genes: SDHB;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0006748Adrenal pheochromocytoma
4 HP:0030074Chemodectoma
5 HP:0006824Cranial nerve paralysis
6 HP:0011976Elevated urinary catecholamines
7 HP:0000740Episodic paroxysmal anxiety
8 HP:0006737Extraadrenal pheochromocytoma
9 HP:0100723Gastrointestinal stroma tumorHP:0040283
10 HP:0003001Glomus jugular tumor
11 HP:0000975Hyperhidrosis
12 HP:0002640Hypertension associated with pheochromocytoma
13 HP:0003829Incomplete penetrance
14 HP:0003006NeuroblastomaHP:0040283
15 HP:0001962Palpitations
16 HP:0002864Paraganglioma of head and neckHP:0040283
17 HP:0008629Pulsatile tinnitus
18 HP:0002331Recurrent paroxysmal headache
19 HP:0005584Renal cell carcinoma
20 HP:0001649Tachycardia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000001.11:g.(?_17018871)_(17044898_?)del6390SDHBPathogenic-1RCV001033948; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734536617371393nana-1-
NC_000001.11:g.(?_17018875)_(17044894_?)del6390SDHBPathogenic-1RCV000537003; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:2907211734537017371389nana-C1861848 115310 Paragangliomas 4;
NC_000001.11:g.(?_17018881)_(17018968_?)dup6390SDHBUncertain significance-1RCV001033052; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734537617345463nana-1-
NC_000001.11:g.(?_17018881)_(17054019_?)del6390SDHBPathogenic-1RCV001033008; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734537617380514nana-1-
NC_000001.11:g.(?_17018881)_(17054019_?)dup6390SDHBUncertain significance-1RCV001032845; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734537617380514nana-1-
NC_000001.10:g.(?_17345376)_(17371393_?)dup6390SDHBUncertain significance-1RCV001295590; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734537617371393nana-1-
NC_000001.10:g.(?_17345376)_(17355241_?)dup6390SDHBUncertain significance-1RCV001324551; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734537617355241nana-1-
NC_000001.10:g.(?_17345376)_(17345463_?)del6390SDHBPathogenic-1RCV001385634; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734537617345463nana-1-
NC_000001.10:g.(?_17345376)_(17371403_?)del6390SDHBPathogenic-1RCV001385635; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734537617371403nana-1-
NC_000001.10:g.(?_17345376)_(17359650_?)del6390SDHBPathogenic-1RCV001932317; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734537617359650nana-1-
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)6390SDHBUncertain significance-1RCV001976108; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734538317345384GAAG17345383-
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)6390SDHBUncertain significance-1RCV001993678; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734538417345384AC17345384-
NM_003000.3(SDHB):c.831del (p.Ala278fs)6390SDHBUncertain significance-1RCV001893854; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734538817345388CTC17345387-
NM_003000.3(SDHB):c.828G>A (p.Lys276=)6390SDHBLikely benign-1RCV001475037; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734539117345391CT17345391-
NM_003000.3(SDHB):c.823_825del (p.Glu275del)6390SDHBUncertain significancers1221042239RCV001061121; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734539417345396TCTCT1:g.17345394_17345396del-
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)6390SDHBUncertain significance-1RCV001982839; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734540417345404GA17345404-
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)6390SDHBUncertain significancers2077945936RCV001314208|RCV001776188; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734540717345407GA17345407-
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)6390SDHBUncertain significancers771388711RCV000691533; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734541817345418CGNC_000001.10:g.17345418C>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)6390SDHBUncertain significancers2077946088RCV001226419; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734542017345420TC1:g.17345420T>C-
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)6390SDHBUncertain significance-1RCV001371987; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734542617345426CT17345426-
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)6390SDHBUncertain significancers1557738283RCV000687486; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734542817345428GTNC_000001.10:g.17345428G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)6390SDHBUncertain significance-1RCV001892685; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734542917345429CT17345429-
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)6390SDHBLikely pathogenicrs1553176976RCV000485215|RCV000696403; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11734543117345432AATAGCNC_000001.10:g.17345433_17345436dupClinGen:CA16617019C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)6390SDHBUncertain significancers1187293049RCV001215579; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734544117345441CG1:g.17345441C>G-
NM_003000.3(SDHB):c.777A>T (p.Pro259=)6390SDHBLikely benign-1RCV001487948; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734544217345442TA17345442-
NM_003000.3(SDHB):c.772A>C (p.Asn258His)6390SDHBUncertain significancers2077946345RCV001347890; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734544717345447TG17345447-
NM_003000.3(SDHB):c.766-5T>C6390SDHBLikely benign-1RCV001461968; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734545817345458AG17345458-
NM_003000.3(SDHB):c.766-9T>G6390SDHBLikely benign-1RCV001474933; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734546217345462AC17345462-
NM_003000.3(SDHB):c.743_765+36del6390SDHBPathogenic-1RCV001999969; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734906717349125CTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTC17349066-
NM_003000.3(SDHB):c.765+13G>A6390SDHBBenign/Likely benignrs115561881RCV000245434|RCV000411316|RCV002058131; NMedGen:CN169374|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011734909017349090CTNC_000001.10:g.17349090C>TClinGen:CA089747CN169374 not specified;
NC_000001.10:g.(?_17349093)_(17350579_?)del6390SDHBLikely pathogenic-1RCV002040406; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734909317350579nana-1-
NC_000001.10:g.(?_17349093)_(17380514_?)del6390SDHBPathogenic-1RCV001950764; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734909317380514nana-1-
NM_003000.3(SDHB):c.765+8G>T6390SDHBLikely benign-1RCV001437867; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734909517349095CA17349095-
NM_003000.3(SDHB):c.765+6T>C6390SDHBUncertain significance-1RCV001372335; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734909717349097AG17349097-
NM_003000.3(SDHB):c.765+4C>T6390SDHBUncertain significancers776039903RCV000701556|RCV001026666; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734909917349099GANC_000001.10:g.17349099G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.765+3A>T6390SDHBUncertain significancers2077967877RCV001039278; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734910017349100TA1:g.17349100T>A-
NM_003000.3(SDHB):c.765+1G>A6390SDHBPathogenic-1RCV001384747; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734910217349102CT17349102-
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)6390SDHBUncertain significance-1RCV001932558; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734910817349108GC17349108-
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)6390SDHBLikely pathogenicrs786201085RCV000162580|RCV001040032; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11734911017349110CT1:g.17349110C>TClinGen:CA016171C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.753G>A (p.Arg251=)6390SDHBLikely benign-1RCV001437820; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734911517349115CT17349115-
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)6390SDHBUncertain significance-1RCV001890455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734911617349116CT17349116-
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)6390SDHBUncertain significancers1057517537RCV000412001|RCV000565120|RCV000694160|RCV001823137; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D11734911917349119GANC_000001.10:g.17349119G>AClinGen:CA16042051C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)6390SDHBUncertain significancers1064794269RCV001040294; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734912217349122CG1:g.17349122C>G-
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)6390SDHBConflicting interpretations of pathogenicityrs1131691058RCV000492396|RCV001058694; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11734912417349124GCNC_000001.10:g.17349124G>CClinGen:CA338270053C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)6390SDHBUncertain significancers2077968083RCV001323020; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734912517349125TC17349125-
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)6390SDHBUncertain significancers2077968110RCV001236140; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734912717349127CA1:g.17349127C>A-
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)6390SDHBUncertain significancers2077968110RCV001325002; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734912717349127CT17349127-
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)6390SDHBUncertain significance-1RCV002002845; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734912717349127CG17349127-
NM_003000.3(SDHB):c.738C>T (p.Ile246=)6390SDHBLikely benignrs1476198465RCV000866975|RCV001026362|RCV001447802; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29011734913017349130GA1:g.17349130G>A-
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)6390SDHBUncertain significance-1RCV002034109; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734913017349130GC17349130-
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)6390SDHBUncertain significancers1570944778RCV001302135; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734913117349131AC17349131-
NM_003000.3(SDHB):c.732C>T (p.His244=)6390SDHBLikely benignrs1570944785RCV000925591; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734913617349136GA1:g.17349136G>A-
NM_003000.3(SDHB):c.725G>A (p.Arg242His)6390SDHBPathogenic/Likely pathogenicrs74315368RCV000013620|RCV000013619|RCV000022778|RCV000129095|RCV000183216|RCV000505354|RCV000627751|RCV001836632; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734914317349143CT1:g.17349143C>TClinGen:CA016163,UniProtKB:P21912#VAR_017869,OMIM:185470.0004C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)6390SDHBPathogenicrs786203251RCV000166478|RCV000461517|RCV001092589; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11734914417349144GA1:g.17349144G>AClinGen:CA016155C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)6390SDHBPathogenicrs794728950RCV000183221|RCV001026125|RCV001385644; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29011734914717349150TATAGT1:g.17349147_17349150delClinGen:CA016135CN517202 not provided;
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)6390SDHBPathogenicrs587781266RCV000013622|RCV000013621|RCV000128877|RCV001034689|RCV001797588; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:H11734914917349152TAGAGTNC_000001.10:g.17349150GA[1]ClinGen:CA016120,OMIM:185470.0005C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)6390SDHBUncertain significancers1131691046RCV000492257|RCV001856952; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11734914917349149AGNC_000001.10:g.17349149A>GClinGen:CA338270230C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.717T>C (p.Ser239=)6390SDHBLikely benign-1RCV001422123; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734915117349151AG17349151-
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)6390SDHBUncertain significancers201098090RCV000700844; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734915217349152GTNC_000001.10:g.17349152G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)6390SDHBUncertain significance-1RCV001892128; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734915317349153AG17349153-
NM_003000.3(SDHB):c.713del (p.Phe238fs)6390SDHBPathogenicrs876660642RCV000221959|RCV001233559; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11734915517349155GAG1:g.17349155_17349155delClinGen:CA10577669C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.711A>G (p.Pro237=)6390SDHBLikely benign-1RCV001475412; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734915717349157TC17349157-
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)6390SDHBUncertain significancers878854579RCV001337406; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734915817349158GA17349158-
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)6390SDHBConflicting interpretations of pathogenicityrs186768244RCV000412414|RCV000465994|RCV000571866|RCV001591047; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype11734915917349159GANC_000001.10:g.17349159G>AClinGen:CA089715C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)6390SDHBUncertain significancers2077968555RCV001069271; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734916217349162CT1:g.17349162C>T-
NM_003000.3(SDHB):c.705G>A (p.Gln235=)6390SDHBLikely benign-1RCV001887236; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734916317349163CT17349163-
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)6390SDHBUncertain significancers786202913RCV000165977|RCV001056293; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11734916717349167AT1:g.17349167A>TClinGen:CA016109C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.700C>T (p.Leu234=)6390SDHBLikely benignrs201728852RCV000279182|RCV000317866|RCV000633984|RCV000568441|RCV002061161; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM11734916817349168GANC_000001.10:g.17349168G>AClinGen:CA089712C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)6390SDHBPathogenicrs1553177285RCV000534002; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734917117349171TANC_000001.10:g.17349171T>AClinGen:CA338270321C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.693G>A (p.Leu231=)6390SDHBLikely benign-1RCV001446997; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734917517349175CT17349175-
NM_003000.3(SDHB):c.689G>A (p.Arg230His)6390SDHBPathogenic/Likely pathogenicrs587782604RCV000131970|RCV000183215|RCV000456660|RCV000505312|RCV000660259|RCV000762865|RCV001310280; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phen11734917917349179CT1:g.17349179C>TClinGen:CA016085,OMIM:185470.0023C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)6390SDHBPathogenicrs587782604RCV000164275|RCV000473831|RCV000522081; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11734917917349179CA1:g.17349179C>AClinGen:CA016097C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)6390SDHBPathogenicrs1209914140RCV000547430; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734918217349183TTCCTCTGTGAAGCGNC_000001.10:g.17349193_17349194insCGCCTCTGTGAAGClinGen:CA521037681C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)6390SDHBPathogenicrs762812025RCV000505318|RCV000798175|RCV001025703; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP11734918417349185CCTCNC_000001.10:g.17349184_17349185delCTClinGen:CA089708C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)6390SDHBUncertain significance-1RCV001370670; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734918817349188GA17349188-
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)6390SDHBUncertain significance-1RCV001901000; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734918917349200GTGAAGTCATCTCG17349188-
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)6390SDHBUncertain significance-1RCV001952942; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734920417349204AC17349204-
NM_003000.3(SDHB):c.655A>G (p.Met219Val)6390SDHBUncertain significance-1RCV001880338; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734921317349213TC17349213-
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)6390SDHBPathogenic/Likely pathogenicrs200245469RCV000162444|RCV000539362|RCV000984327|RCV001528474; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11734921917349219GA1:g.17349219G>AClinGen:CA016064C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)6390SDHBUncertain significancers1553177291RCV000572107|RCV000633963; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11734922117349221TC1:g.17349221T>CClinGen:CA338270510C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.643-8_643-3del6390SDHBUncertain significancers2077969156RCV001214438; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734922817349233TGGAAAAT1:g.17349228_17349233del-
NM_003000.3(SDHB):c.643-4C>G6390SDHBLikely benignrs748796588RCV000922055; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611734922917349229GC1:g.17349229G>C-
NM_003000.3(SDHB):c.643-7T>C6390SDHBLikely benignrs374921867RCV000937971|RCV001477352; NMedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11734923217349232AG1:g.17349232A>G-
NM_003000.3(SDHB):c.643-8T>C6390SDHBLikely benign-1RCV001426660; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734923317349233AG17349233-
NM_003000.3(SDHB):c.643-10G>A6390SDHBUncertain significancers1553177293RCV000520490|RCV001042634; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11734923517349235CT1:g.17349235C>TClinGen:CA658656883CN169374 not specified;
NM_003000.3(SDHB):c.643-17C>T6390SDHBLikely benign-1RCV002136172; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111734924217349242GA17349242-
NM_003000.3(SDHB):c.642+325C>T6390SDHBBenignrs2235930RCV000861647|RCV001519058; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735014317350143GA1:g.17350143G>A-
NM_003000.3(SDHB):c.642+17T>C6390SDHBLikely benignrs200597595RCV000409287|RCV001571908|RCV002058845; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011735045117350451AG1:g.17350451A>GClinGen:CA089687C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.642+14T>C6390SDHBLikely benign-1RCV002109767; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735045417350454AG17350454-
NM_003000.3(SDHB):c.642+9C>G6390SDHBLikely benign-1RCV002091518; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735045917350459GC17350459-
NM_003000.3(SDHB):c.642_642+6del6390SDHBPathogenic/Likely pathogenicrs876660368RCV000215647|RCV001854690; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735046217350468ACCTCACCA1:g.17350462_17350468delClinGen:CA10577670C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.642+6G>A6390SDHBUncertain significance-1RCV001359531; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735046217350462CT17350462-
NM_003000.3(SDHB):c.642+2T>G6390SDHBPathogenic/Likely pathogenicrs1553177424RCV000519924|RCV001207024; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735046617350466AC1:g.17350466A>CClinGen:CA338270919CN517202 not provided;
NM_003000.3(SDHB):c.642+1G>A6390SDHBPathogenicrs1131691052RCV000505294|RCV001557208|RCV001857227; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Pheno11735046717350467CTNC_000001.10:g.17350467C>TClinGen:CA338270921C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.642G>C (p.Gln214His)6390SDHBUncertain significancers1278834014RCV000505356|RCV000818248|RCV001824813; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP11735046817350468CGNC_000001.10:g.17350468C>GClinGen:CA338270924C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)6390SDHBPathogenic/Likely pathogenicrs876658461RCV000215175|RCV000238597|RCV000472972|RCV000657586|RCV000762866|RCV001175589; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11735047017350470GA1:g.17350470G>AClinGen:CA10577671C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.636T>C (p.Leu212=)6390SDHBLikely benign-1RCV001473640; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735047417350474AG17350474-
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)6390SDHBConflicting interpretations of pathogenicityrs1228560456RCV000565195|RCV000697509; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735047617350476GA1:g.17350476G>AClinGen:CA338270937C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)6390SDHBUncertain significance-1RCV001902970; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735047817350478AG17350478-
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)6390SDHBUncertain significancers2077977582RCV001039568; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735047917350479CT1:g.17350479C>T-
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)6390SDHBUncertain significancers1252727177RCV001325346|RCV001751630; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735048117350481GA17350481-
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)6390SDHBUncertain significancers2077977622RCV001223405; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735048417350484GC1:g.17350484G>C-
NM_003000.3(SDHB):c.619C>T (p.Leu207=)6390SDHBLikely benignrs1570945806RCV000982552|RCV001394565; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735049117350491GA1:g.17350491G>A-
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)6390SDHBPathogenicrs587782617RCV000131995|RCV000633970|RCV000657287; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735049417350503TATTTGTCTCCT1:g.17350494_17350503delClinGen:CA016035C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)6390SDHBUncertain significance-1RCV001975885; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735049617350496TG17350496-
NM_003000.3(SDHB):c.609A>C (p.Gly203=)6390SDHBLikely benignrs1570945818RCV001024892|RCV001402067; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735050117350501TG1:g.17350501T>G-
NM_003000.3(SDHB):c.605dup (p.Asn202fs)6390SDHBPathogenicrs1131691053RCV000492713|RCV001036821; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735050417350505GGT1:g.17350504_17350505insTClinGen:CA645369143C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)6390SDHBUncertain significancers2077977917RCV001229296; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735050717350507CG1:g.17350507C>G-
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)6390SDHBUncertain significance-1RCV002042891; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735050917350509AG17350509-
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)6390SDHBPathogenic/Likely pathogenicrs397516836RCV000037723|RCV000492138|RCV000660257|RCV001852786; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OM11735051017350510CT1:g.17350510C>TClinGen:CA016011C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)6390SDHBPathogenicrs397516836RCV000162460|RCV000462889|RCV000505334|RCV001577788|RCV001523819; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11735051017350510CA1:g.17350510C>AClinGen:CA016022C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)6390SDHBLikely pathogenicrs1557739966RCV000693104|RCV001024760; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735051217350512AGNC_000001.10:g.17350512A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.598del (p.Trp200fs)6390SDHBPathogenic-1RCV001934749; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735051217350512CAC17350511-
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)6390SDHBUncertain significance-1RCV001871293; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735051717350517CA17350517-
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)6390SDHBUncertain significancers2077978250RCV001062177; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735051817350518TG1:g.17350518T>G-
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)6390SDHBPathogenic/Likely pathogenicrs74315367RCV000013617|RCV000030623|RCV000213984|RCV000465474|RCV001810856; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OM11735052017350520GC1:g.17350520G>CClinGen:CA016001,UniProtKB:P21912#VAR_017868,OMIM:185470.0002C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)6390SDHBUncertain significancers2077978300RCV001048320; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735052117350521GA1:g.17350521G>A-
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)6390SDHBPathogenicrs876658367RCV000220162|RCV000461924|RCV000505388|RCV000479413|RCV001034642; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,Me11735052317350523CT1:g.17350523C>TClinGen:CA10577672,UniProtKB:P21912#VAR_035067C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)6390SDHBLikely pathogenic-1RCV002019589; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735052417350524AG17350524-
NM_003000.3(SDHB):c.582C>T (p.Thr194=)6390SDHBLikely benignrs775450654RCV000874457|RCV001024576; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735052817350528GA1:g.17350528G>A-
NM_003000.3(SDHB):c.582C>G (p.Thr194=)6390SDHBLikely benignrs775450654RCV000873549|RCV001505782; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735052817350528GC1:g.17350528G>C-
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)6390SDHBUncertain significancers2077978395RCV001309362; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735053217350532CT17350532-
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)6390SDHBUncertain significance-1RCV002011566; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735054117350541GA17350541-
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)6390SDHBUncertain significancers199789177RCV001305161; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735054217350542CT17350542-
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)6390SDHBLikely pathogenic-1RCV002026727; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735054317350543AC17350543-
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)6390SDHBUncertain significancers2077978513RCV001224869; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735054517350545AG1:g.17350545A>G-
NM_003000.3(SDHB):c.564C>T (p.Leu188=)6390SDHBLikely benign-1RCV001413806; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735054617350546GA17350546-
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)6390SDHBUncertain significance-1RCV001942759; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735054817350548GT17350548-
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)6390SDHBUncertain significancers1553177442RCV000563200|RCV001215617; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735056017350560AG1:g.17350560A>GClinGen:CA338271439C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)6390SDHBUncertain significancers1557740003RCV000703565|RCV001543112; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735056317350563GANC_000001.10:g.17350563G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)6390SDHBUncertain significancers1570945931RCV001024138|RCV001337551; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735056517350565CG1:g.17350565C>G-
NM_003000.3(SDHB):c.541-30_541-2dup6390SDHBLikely benign-1RCV001413898; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735057017350571CCTGTATGGGGAGAAAAGAGAGGCAGGAGCT17350570-
NM_003000.3(SDHB):c.541-2A>G6390SDHBPathogenic/Likely pathogenicrs786201161RCV000162804|RCV000374774|RCV000523104|RCV000505364|RCV000797086; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN239418|MedGen:CN517202|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:11735057117350571TC1:g.17350571T>CClinGen:CA015950C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.541-3C>A6390SDHBUncertain significance-1RCV001926312; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735057217350572GT17350572-
NM_003000.3(SDHB):c.541-5T>C6390SDHBLikely benign-1RCV001482884; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735057417350574AG17350574-
NM_003000.3(SDHB):c.541-7C>G6390SDHBLikely benign-1RCV001431561; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735057617350576GC17350576-
NM_003000.3(SDHB):c.541-9C>T6390SDHBLikely benignrs755367242RCV000841519|RCV001472872; NMedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen11735057817350578GA1:g.17350578G>A-
NM_003000.3(SDHB):c.541-10C>T6390SDHBLikely benignrs200004039RCV000827259|RCV001087443; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735057917350579GA1:g.17350579G>A-
NM_003000.3(SDHB):c.541-19C>G6390SDHBLikely benign-1RCV002164349; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735058817350588GC17350588-
NM_003000.3(SDHB):c.540+15T>C6390SDHBLikely benign-1RCV002173858; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735422917354229AG17354229-
NM_003000.3(SDHB):c.540_540+13del6390SDHBLikely pathogenicrs1553177666RCV000551202|RCV001378111; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:11735423117354244TAGGGACTAATGACCT1:g.17354231_17354244delClinGen:CA658656888C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.540+13T>C6390SDHBLikely benign-1RCV002182154; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735423117354231AG17354231-
NM_003000.3(SDHB):c.540+12C>T6390SDHBLikely benign-1RCV002117261; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735423217354232GA17354232-
NM_003000.3(SDHB):c.540+12C>G6390SDHBLikely benign-1RCV002122049; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735423217354232GC17354232-
NC_000001.10:g.(?_17354234)_(17359650_?)dup6390SDHBLikely pathogenic-1RCV002016090; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735423417359650nana-1-
NM_003000.3(SDHB):c.540+8G>A6390SDHBLikely benign-1RCV001478694; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735423617354236CT17354236-
NM_003000.3(SDHB):c.540+5T>C6390SDHBUncertain significancers1557741072RCV000701546; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735423917354239AG1:g.17354239A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.540+1G>A6390SDHBLikely pathogenicrs1553177667RCV000527325|RCV001376794; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:11735424317354243CTNC_000001.10:g.17354243C>TClinGen:CA338272394C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.534G>A (p.Glu178=)6390SDHBLikely benign-1RCV001463805; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735425017354250CT17354250-
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)6390SDHBUncertain significance-1RCV002001471; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735425117354251TA17354251-
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)6390SDHBUncertain significancers2077999285RCV001340290; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735425217354252CG17354252-
NM_003000.3(SDHB):c.523dup (p.Glu175fs)6390SDHBPathogenicrs2077999421RCV001223247; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735426017354261TTC1:g.17354260_17354261insC-
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)6390SDHBUncertain significance-1RCV002023920; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735426017354260TC17354260-
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)6390SDHBUncertain significance-1RCV002019841; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735426217354262TC17354262-
NM_003000.3(SDHB):c.519C>T (p.Ser173=)6390SDHBLikely benign-1RCV001463363; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735426517354265GA17354265-
NM_003000.3(SDHB):c.513G>A (p.Leu171=)6390SDHBLikely benign-1RCV002163117; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735427117354271CT17354271-
NM_003000.3(SDHB):c.507G>A (p.Gln169=)6390SDHBLikely benign-1RCV001436012; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735427717354277CT17354277-
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)6390SDHBPathogenicrs1553177677RCV000525973|RCV001383002; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:11735428217354282GA1:g.17354282G>AClinGen:CA338272662C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.501G>A (p.Lys167=)6390SDHBLikely benignrs1570947881RCV000935993|RCV001411781; NMedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735428317354283CT1:g.17354283C>T-
NM_003000.3(SDHB):c.492G>A (p.Gln164=)6390SDHBLikely benign-1RCV002140963; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735429217354292CT17354292-
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)6390SDHBUncertain significance-1RCV002013250; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735429617354296GT17354296-
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)6390SDHBPathogenic-1RCV001918002; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735430017354300CA17354300-
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)6390SDHBUncertain significancers1049317868RCV000564159|RCV000803790|RCV001194403; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735430217354302TCNC_000001.10:g.17354302T>CClinGen:CA18665939C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)6390SDHBUncertain significancers2077999799RCV001229816; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735430517354305TG1:g.17354305T>G-
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)6390SDHBUncertain significancers2077999812RCV001035371; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735431417354314AG1:g.17354314A>G-
NM_003000.3(SDHB):c.466del (p.Tyr156fs)6390SDHBPathogenic-1RCV001382459; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735431817354318TAT17354317-
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)6390SDHBUncertain significancers1396860069RCV001057543; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735432617354326AG1:g.17354326A>G-
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)6390SDHBUncertain significancers1450956956RCV000565320|RCV001060686; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735432717354327TC1:g.17354327T>CClinGen:CA338273114C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)6390SDHBUncertain significancers1450956956RCV000699660; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735432717354327TA1:g.17354327T>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.453A>G (p.Lys151=)6390SDHBLikely benignrs1570947967RCV000976943|RCV001463601; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735433117354331TC1:g.17354331T>C-
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)6390SDHBPathogenic-1RCV001981499; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735433417354334GC17354334-
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)6390SDHBUncertain significance-1RCV001984083; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735433617354336AG17354336-
NM_003000.3(SDHB):c.447G>T (p.Gln149His)6390SDHBUncertain significance-1RCV001874938; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735433717354337CA17354337-
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)6390SDHBPathogenic-1RCV001899634; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735433717354338CCTG17354337-
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)6390SDHBUncertain significancers2078000133RCV001295161; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735434217354342CT17354342-
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)6390SDHBUncertain significancers774568101RCV001022440|RCV001042955; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735434417354344TA1:g.17354344T>A-
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)6390SDHBUncertain significancers1570948017RCV001022404|RCV001873356; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735434617354346GT1:g.17354346G>T-
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)6390SDHBUncertain significancers1570948017RCV001213150; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735434617354346GC1:g.17354346G>C-
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)6390SDHBUncertain significance-1RCV001904292; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735434717354347AG17354347-
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)6390SDHBUncertain significancers1570948034RCV001022207|RCV001070335; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735435717354357AT1:g.17354357A>T-
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)6390SDHBUncertain significancers759709073RCV000685060; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735435917354359TA1:g.17354359T>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)6390SDHBUncertain significance-1RCV002021903; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735435917354359TC17354359-
NM_003000.3(SDHB):c.424-1G>A6390SDHBPathogenic/Likely pathogenicrs1131691060RCV000492109|RCV001244653; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735436117354361CT1:g.17354361C>TClinGen:CA338273531C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.424-3C>G6390SDHBUncertain significancers1557741166RCV000701874; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735436317354363GC1:g.17354363G>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.424-7A>C6390SDHBLikely benignrs1570948064RCV000982178|RCV001499796; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735436717354367TG1:g.17354367T>G-
NM_003000.3(SDHB):c.424-14_424-9dup6390SDHBLikely benignrs1064794554RCV000481304|RCV000662623|RCV002060795; NMedGen:CN169374|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735436817354369TTAAGAGG1:g.17354368_17354369insAAGAGGClinGen:CA16617022CN169374 not specified;
NM_003000.3(SDHB):c.424-17_424-9del6390SDHBLikely benign-1RCV001413380; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735436917354377TAAGAGGAAGT17354368-
NM_003000.3(SDHB):c.424-13_424-11dup6390SDHBLikely benign-1RCV002126305; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735437017354371AAGAG17354370-
NM_003000.3(SDHB):c.424-37TTC[6]6390SDHBConflicting interpretations of pathogenicityrs34261028RCV000243274|RCV000307606|RCV000402739|RCV001517903|RCV001580091; NMedGen:CN169374|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenot11735437417354379GGAAGAAG1:g.17354374_17354379delClinGen:CA637817CN169374 not specified;
NM_003000.3(SDHB):c.424-37TTC[5]6390SDHBLikely benign-1RCV002177729; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735437417354382GGAAGAAGAAG17354373-
NM_003000.3(SDHB):c.424-19T>C6390SDHBLikely benign-1RCV002160119; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735437917354379AG17354379-
NM_003000.3(SDHB):c.424-20C>A6390SDHBLikely benign-1RCV002122386; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735438017354380GT17354380-
NM_003000.3(SDHB):c.423+11G>T6390SDHBLikely benign-1RCV002078476; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735508417355084CA17355084-
NM_003000.3(SDHB):c.423+10T>G6390SDHBLikely benign-1RCV002144695; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735508517355085AC17355085-
NM_003000.3(SDHB):c.423+8T>G6390SDHBLikely benign-1RCV001487864; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735508717355087AC17355087-
NM_003000.3(SDHB):c.423+7T>C6390SDHBLikely benign-1RCV001452277; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735508817355088AG17355088-
NM_003000.3(SDHB):c.423+1G>A6390SDHBPathogenicrs398122805RCV000022779|RCV000163600|RCV000505379|RCV000481826|RCV000627750|RCV000762867; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,Me11735509417355094CT1:g.17355094C>TClinGen:CA015862,OMIM:185470.0019C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)6390SDHBUncertain significancers1553177734RCV001340975; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735509617355096GA17355096-
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)6390SDHBPathogenic/Likely pathogenicrs267607032RCV000013634|RCV000132167|RCV000505751|RCV000505378|RCV000627753; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,Me11735510017355100CA1:g.17355100C>AClinGen:CA015853,OMIM:185470.0016C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.417T>C (p.Leu139=)6390SDHBLikely benignrs1570948513RCV000866777|RCV001456318; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735510117355101AG1:g.17355101A>G-
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)6390SDHBLikely pathogenicrs786203529RCV000166877|RCV001729423|RCV001850356; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen11735510617355106CA1:g.17355106C>AClinGen:CA015837C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.411G>A (p.Lys137=)6390SDHBLikely benign-1RCV002156459; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735510717355107CT17355107-
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)6390SDHBUncertain significancers2078004335RCV001313359; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735511117355111AC17355111-
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)6390SDHBUncertain significancers2078004347RCV001217089; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735511217355112TC1:g.17355112T>C-
NM_003000.3(SDHB):c.405G>A (p.Val135=)6390SDHBLikely benign-1RCV002191385; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735511317355113CT17355113-
NM_003000.3(SDHB):c.402T>C (p.Tyr134=)6390SDHBLikely benign-1RCV001430670; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735511617355116AG17355116-
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)6390SDHBUncertain significancers200893429RCV001065903; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735511717355117TC1:g.17355117T>C-
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)6390SDHBPathogenicrs1557741425RCV000702806; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735511817355119AAC1:g.17355118_17355119insC-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)6390SDHBUncertain significancers771004483RCV001021652|RCV001036784; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735511817355118AG1:g.17355118A>G-
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)6390SDHBUncertain significance-1RCV001961375; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735511917355119CA17355119-
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)6390SDHBUncertain significancers553392349RCV000690466; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735512017355120AG1:g.17355120A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.395A>C (p.His132Pro)6390SDHBPathogenic/Likely pathogenicrs74315372RCV000013628|RCV001021521|RCV001857343; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11735512317355123TG1:g.17355123T>GClinGen:CA015817,UniProtKB:P21912#VAR_037621,OMIM:185470.0010C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.392del (p.Pro131fs)6390SDHBPathogenicrs1553177739RCV000505383|RCV001228851; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP11735512617355126TGT1:g.17355126_17355126delClinGen:CA645509069C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)6390SDHBUncertain significance-1RCV001884875; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735512617355126GA17355126-
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)6390SDHBUncertain significance-1RCV001917706; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735513017355130GA17355130-
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)6390SDHBUncertain significancers1553177740RCV001021307|RCV001246876; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735513317355133GA1:g.17355133G>A-
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)6390SDHBPathogenic/Likely pathogenicrs786201095RCV000162628|RCV000170330|RCV000464351|RCV000505708|RCV000660256|RCV000780706|RCV000826205; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287, Orphanet:139411|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGe11735513817355138AC1:g.17355138A>CClinGen:CA015797C1858592 604287 Carney triad;
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)6390SDHBUncertain significancers201372280RCV001064015; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735513917355139TC1:g.17355139T>C-
NM_003000.3(SDHB):c.375A>G (p.Ser125=)6390SDHBLikely benign-1RCV002168546; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735514317355143TC17355143-
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)6390SDHBPathogenicrs786203506RCV000166840|RCV001054765; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735514417355144GT1:g.17355144G>TClinGen:CA015788C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)6390SDHBUncertain significancers1557741456RCV000692699; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735514717355147AGNC_000001.10:g.17355147A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)6390SDHBUncertain significancers978525560RCV001350477; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735514817355148CT17355148-
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)6390SDHBUncertain significancers1557741464RCV000687226|RCV001543131; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735515017355150TGNC_000001.10:g.17355150T>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)6390SDHBUncertain significance-1RCV001370672; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735515017355150TC17355150-
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)6390SDHBUncertain significancers1557741472RCV001020819|RCV001067820; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735515317355153TC1:g.17355153T>C-
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)6390SDHBUncertain significancers775925040RCV001020760|RCV001071144|RCV001759706; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735515617355156AG1:g.17355156A>G-
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)6390SDHBUncertain significancers1194401420RCV000691221; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735515717355157GA1:g.17355157G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)6390SDHBUncertain significancers11541234RCV000693366; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735516217355162GTNC_000001.10:g.17355162G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.351T>A (p.Ile117=)6390SDHBLikely benign-1RCV001435681; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735516717355167AT17355167-
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)6390SDHBUncertain significance-1RCV002025228; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735517117355171CA17355171-
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)6390SDHBPathogenicrs751000085RCV000178185|RCV000505340|RCV000627752|RCV001507023; NMedGen:CN517202|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Pheno11735517517355175GA1:g.17355175G>AClinGen:CA015763C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)6390SDHBUncertain significance-1RCV001982237; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735517517355175GC17355175-
NM_003000.3(SDHB):c.342C>T (p.Thr114=)6390SDHBLikely benignrs528599830RCV000975653|RCV001483453; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735517617355176GA1:g.17355176G>A-
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)6390SDHBUncertain significance-1RCV001961962; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735517817355178TC17355178-
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)6390SDHBUncertain significancers2078005043RCV001224418; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735518117355181AC1:g.17355181A>C-
NM_003000.3(SDHB):c.336T>C (p.Ala112=)6390SDHBLikely benign-1RCV001422202; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735518217355182AG17355182-
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)6390SDHBConflicting interpretations of pathogenicityrs1570948631RCV001020007|RCV001873325; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735518617355186AG1:g.17355186A>G-
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)6390SDHBUncertain significancers2078005090RCV001226209; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735518717355187GC1:g.17355187G>C-
NM_003000.3(SDHB):c.330T>C (p.Thr110=)6390SDHBLikely benign-1RCV001476662; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735518817355188AG17355188-
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)6390SDHBUncertain significancers1407350591RCV001302229; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735519017355190TA17355190-
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)6390SDHBUncertain significancers1557741510RCV000690510; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735520217355202TC1:g.17355202T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.312C>T (p.Asn104=)6390SDHBLikely benignrs876660346RCV000222005|RCV000938642; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735520617355206GA1:g.17355206G>AClinGen:CA10577677C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)6390SDHBPathogenicrs786201316RCV000163361|RCV000801474|RCV001781508; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11735520717355207TCCNC_000001.10:g.17355207delinsCCClinGen:CA188076C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)6390SDHBLikely pathogenicrs878854576RCV000232854|RCV000492765|RCV001377867; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H11735522217355222CT1:g.17355222C>TClinGen:CA10581747C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)6390SDHBLikely pathogenicrs1553177769RCV000567029|RCV000693661; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735522917355229TA1:g.17355229T>AClinGen:CA338275267C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)6390SDHBConflicting interpretations of pathogenicityrs778952116RCV000492591|RCV000633945|RCV000505304|RCV000660255; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735523117355231CT1:g.17355231C>TClinGen:CA089580C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)6390SDHBUncertain significance-1RCV001372333; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735523117355231CA17355231-
NM_003000.3(SDHB):c.287-1G>C6390SDHBPathogenic/Likely pathogenicrs397516833RCV000037719|RCV000128907|RCV000332692|RCV000478921|RCV000633965; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,Me11735523217355232CG1:g.17355232C>GClinGen:CA015712C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287-2A>G6390SDHBPathogenicrs1064794270RCV000486186|RCV000492665|RCV001195795|RCV001203212; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44811735523317355233TC1:g.17355233T>CClinGen:CA16617023C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.287-3C>G6390SDHBUncertain significancers1553177772RCV000505289|RCV001215683; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP11735523417355234GCNC_000001.10:g.17355234G>CClinGen:CA645509071C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.287-4del6390SDHBLikely benign-1RCV002187428; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735523517355235GAG17355234-
NM_003000.3(SDHB):c.287-11G>A6390SDHBLikely benign-1RCV002182323; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735524217355242CT17355242-
NM_003000.3(SDHB):c.287-12T>C6390SDHBLikely benign-1RCV002093588; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735524317355243AG17355243-
NM_003000.3(SDHB):c.287-16T>C6390SDHBLikely benign-1RCV002181799; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735524717355247AG17355247-
NM_003000.3(SDHB):c.287-26A>G6390SDHBLikely benignrs201397253RCV000209378|RCV000412023; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:2907211735525717355257TC1:g.17355257T>CClinGen:CA089570C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.201-4429_287-934del6390SDHBPathogenic-1RCV000626322; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:2907211735616517364069TGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACTNC_000001.10:g.17356166_17364070delClinGen:CA658798041,OMIM:185470.0021C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.286+15C>T6390SDHBLikely benign-1RCV002200568; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735954017359540GA17359540-
NM_003000.3(SDHB):c.286+7A>G6390SDHBLikely benign-1RCV002175011; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735954817359548TC17359548-
NM_003000.3(SDHB):c.286+5G>A6390SDHBUncertain significancers768966871RCV001340713; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735955017359550CT17359550-
NM_003000.3(SDHB):c.286+5G>C6390SDHBUncertain significance-1RCV001863761; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735955017359550CG17359550-
NM_003000.3(SDHB):c.286+3G>A6390SDHBUncertain significancers2078031816RCV001233715; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735955217359552CT1:g.17359552C>T-
NM_003000.3(SDHB):c.286+2T>A6390SDHBPathogenicrs587781270RCV000128905|RCV000481752|RCV000475161|RCV000505293|RCV000660254; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29011735955317359553AT1:g.17359553A>TClinGen:CA015691C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286+1G>A6390SDHBPathogenicrs786201063RCV000162475|RCV000505373|RCV000633969|RCV001541605; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGe11735955417359554CT1:g.17359554C>TClinGen:CA015681C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)6390SDHBPathogenic/Likely pathogenicrs587782243RCV000130946|RCV000459169|RCV000489952|RCV000505332; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735955517359555CT1:g.17359555C>TClinGen:CA015701C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)6390SDHBLikely pathogenic-1RCV001973450; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735955517359555CA17359555-
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)6390SDHBUncertain significance-1RCV001995947; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735955917359559TG17359559-
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)6390SDHBUncertain significancers2078031878RCV001347165; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735956117359561TC17359561-
NM_003000.3(SDHB):c.279C>T (p.Cys93=)6390SDHBLikely benign-1RCV001489636; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735956217359562GA17359562-
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)6390SDHBUncertain significancers2078031940RCV001312656; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735956917359569CT17359569-
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)6390SDHBConflicting interpretations of pathogenicityrs570278423RCV000492424|RCV000550029|RCV000782211|RCV001004837|RCV001778775; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735957217359572CT1:g.17359572C>TClinGen:CA015654C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)6390SDHBUncertain significance-1RCV001984232; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735957217359572CA17359572-
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)6390SDHBPathogenicrs74315366RCV000013616|RCV000030621|RCV000037718|RCV000183211|RCV000215883|RCV000627749|RCV000763272; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orph11735957317359573GA1:g.17359573G>AClinGen:CA015643,OMIM:185470.0001C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)6390SDHBUncertain significancers74315366RCV000165299|RCV001217636; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735957317359573GC1:g.17359573G>CClinGen:CA015636C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.267C>T (p.Phe89=)6390SDHBLikely benignrs1553178042RCV000918990|RCV001462201; NMedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen11735957417359574GA1:g.17359574G>A-
NM_003000.3(SDHB):c.264C>T (p.Thr88=)6390SDHBLikely benign-1RCV002144047; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735957717359577GA17359577-
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)6390SDHBUncertain significancers1427902008RCV001346285; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735958917359589GT17359589-
NM_003000.3(SDHB):c.252C>T (p.Asp84=)6390SDHBLikely benign-1RCV001424752; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735958917359589GA17359589-
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)6390SDHBUncertain significancers2078032193RCV001227783; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735959117359591CT1:g.17359591C>T-
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)6390SDHBUncertain significancers763547482RCV001038662; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735959317359593AC1:g.17359593A>C-
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)6390SDHBPathogenic-1RCV001946720; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735959417359595CCTTCA17359594-
NM_003000.3(SDHB):c.243T>C (p.Asn81=)6390SDHBLikely benign-1RCV001452676; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735959817359598AG17359598-
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)6390SDHBUncertain significancers1315623287RCV001070345; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735960017359600TA1:g.17359600T>A-
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)6390SDHBConflicting interpretations of pathogenicityrs1131691051RCV000492648|RCV001221061; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11735960317359603TC1:g.17359603T>CClinGen:CA338276567C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)6390SDHBUncertain significancers2078032308RCV001223003; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735960417359604AC1:g.17359604A>C-
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)6390SDHBUncertain significance-1RCV001919570; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735960917359609TC17359609-
NM_003000.3(SDHB):c.217T>C (p.Leu73=)6390SDHBLikely benign-1RCV001423895; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735962417359624AG17359624-
NM_003000.3(SDHB):c.216A>G (p.Val72=)6390SDHBLikely benignrs1570951479RCV000983032|RCV001409181; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11735962517359625TC1:g.17359625T>C-
NM_003000.3(SDHB):c.210dup (p.Met71fs)6390SDHBPathogenicrs794728947RCV000183218|RCV000216710|RCV000796858; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29011735963017359631TTGNC_000001.10:g.17359634dupClinGen:CA308154C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.211A>G (p.Met71Val)6390SDHBUncertain significancers1557742895RCV001014325|RCV001210128|RCV001786426; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735963017359630TC1:g.17359630T>C-
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)6390SDHBUncertain significance-1RCV001925341; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735963317359633GA17359633-
NM_003000.3(SDHB):c.207C>T (p.Gly69=)6390SDHBLikely benign-1RCV002147741; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735963417359634GA17359634-
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)6390SDHBConflicting interpretations of pathogenicityrs587782904RCV000132547|RCV000548841; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11735963817359638CT1:g.17359638C>TClinGen:CA015598C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)6390SDHBUncertain significance-1RCV001932073; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735963917359639AG17359639-
NM_003000.3(SDHB):c.201-10T>C6390SDHBLikely benign-1RCV002193655; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735965017359650AG17359650-
NM_003000.3(SDHB):c.201-17A>G6390SDHBUncertain significance-1RCV002017663; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735965717359657TC17359657-
NM_003000.3(SDHB):c.201-18G>T6390SDHBLikely benign-1RCV002111468; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111735965817359658CA17359658-
NM_003000.3(SDHB):c.201-18G>A6390SDHBLikely benign-1RCV002127020; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611735965817359658CT17359658-
NM_003000.3(SDHB):c.200+3_200+6del6390SDHBUncertain significance-1RCV002039521; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737125017371253TACTCT17371249-
NM_003000.3(SDHB):c.200+5G>C6390SDHBConflicting interpretations of pathogenicityrs1553178726RCV000508322|RCV000536052; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11737125117371251CG1:g.17371251C>GClinGen:CA645509072C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.200+5G>T6390SDHBUncertain significance-1RCV002016515; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737125117371251CA17371251-
NM_003000.3(SDHB):c.200+4A>C6390SDHBUncertain significancers774908929RCV001050432|RCV001557576; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737125217371252TG1:g.17371252T>G-
NM_003000.3(SDHB):c.200+1G>A6390SDHBPathogenic-1RCV001703290|RCV001868396; NMedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen11737125517371255CT17371255-
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)6390SDHBUncertain significancers786202185RCV000164884|RCV000560019; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11737126317371263GA1:g.17371263G>AClinGen:CA015581C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)6390SDHBUncertain significance-1RCV001758898|RCV001868698; NMedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen11737126317371263GC17371263-
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)6390SDHBUncertain significancers200131173RCV001294086|RCV001871749; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:11737126517371265TC17371265-
NM_003000.3(SDHB):c.190del (p.Asp64fs)6390SDHBPathogenicrs1553178729RCV000557065; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737126617371266TCT1:g.17371266_17371266delClinGen:CA658656890C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.189T>C (p.Val63=)6390SDHBLikely benign-1RCV002185887; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737126717371267AG17371267-
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)6390SDHBUncertain significancers2078099260RCV001222291; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737126917371269CT1:g.17371269C>T-
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)6390SDHBUncertain significance-1RCV001872948; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737127217371272CT17371272-
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)6390SDHBPathogenicrs760169139RCV000505331|RCV001389812; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP11737127317371273ACNC_000001.10:g.17371273A>CClinGen:CA338227764C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.183T>C (p.Tyr61=)6390SDHBLikely benign-1RCV001474559; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737127317371273AG17371273-
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)6390SDHBPathogenic-1RCV001886266; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737127317371273AT17371273-
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)6390SDHBUncertain significancers768171765RCV001215755; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737127417371274TC1:g.17371274T>C-
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)6390SDHBUncertain significance-1RCV001998970; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737128017371280TG17371280-
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)6390SDHBPathogenicrs786202100RCV000164746|RCV000467539|RCV001002472|RCV001257497|RCV001294007|RCV001753560; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11737128617371290ATGAGGA1:g.17371286_17371290delClinGen:CA015546C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.162C>T (p.Asp54=)6390SDHBLikely benign-1RCV001437184; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737129417371294GA17371294-
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)6390SDHBUncertain significancers1570957997RCV001012407|RCV001860707; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11737129617371296CT1:g.17371296C>T-
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)6390SDHBUncertain significancers1570958024RCV001041328; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737130617371306GC1:g.17371306G>C-
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)6390SDHBUncertain significancers1060503765RCV001229478|RCV001819929; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737130817371308CT1:g.17371308C>T-
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)6390SDHBUncertain significancers2078100131RCV001234532; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737131017371310GA1:g.17371310G>A-
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)6390SDHBUncertain significancers2078100198RCV001049021; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737131417371314CT1:g.17371314C>T-
NM_003000.3(SDHB):c.138A>T (p.Arg46=)6390SDHBLikely benign-1RCV001422767; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737131817371318TA17371318-
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)6390SDHBPathogenic/Likely pathogenicrs772551056RCV000162578|RCV000183217|RCV000232432|RCV000505310|RCV000722045|RCV000627748|RCV000763273|RCV001530203; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN239418|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:111737131917371319CT1:g.17371319C>TClinGen:CA015517,UniProtKB:P21912#VAR_054377C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)6390SDHBPathogenicrs74315370RCV000132150|RCV000183224|RCV000228450|RCV000505277|RCV000660253; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phen11737132017371320GA1:g.17371320G>AClinGen:CA015507C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)6390SDHBUncertain significancers200418115RCV000521448|RCV000693783|RCV001010888; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11737132617371326TC1:g.17371326T>CClinGen:CA089518C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)6390SDHBUncertain significancers2078100395RCV001213509; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737132917371329CA1:g.17371329C>A-
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)6390SDHBUncertain significance-1RCV002015328; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737133017371330AC17371330-
NM_003000.3(SDHB):c.120G>A (p.Lys40=)6390SDHBLikely benignrs1570958090RCV000935582|RCV001398441; NMedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11737133617371336CT1:g.17371336C>T-
NM_003000.3(SDHB):c.113G>A (p.Arg38His)6390SDHBLikely benignrs143058777RCV000230624|RCV000260688|RCV000353258|RCV000575516|RCV001697230; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737134317371343CT1:g.17371343C>TClinGen:CA089514C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)6390SDHBUncertain significancers202119350RCV000409187|RCV000456572|RCV000570971|RCV000708789|RCV000986267|RCV000782212|RCV000763775; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype11737134417371344GA1:g.17371344G>AClinGen:CA089513C0018553 Cowden syndrome;
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)6390SDHBUncertain significancers761180960RCV001341003; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737134717371347GA17371347-
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)6390SDHBUncertain significance-1RCV001899957; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737134717371347GC17371347-
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)6390SDHBUncertain significance-1RCV002048011; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737134717371348GATT17371347-
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)6390SDHBUncertain significancers2078100640RCV001224016; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737134917371350GCATNC_000001.10:g.17371349_17371350delinsAT-
NM_003000.3(SDHB):c.96T>G (p.Ala32=)6390SDHBLikely benign-1RCV001443978; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737136017371360AC17371360-
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)6390SDHBUncertain significance-1RCV001970941; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737136217371362CG17371362-
NM_003000.3(SDHB):c.87C>G (p.Ala29=)6390SDHBLikely benign-1RCV002216103; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737136917371369GC17371369-
NM_003000.3(SDHB):c.84A>G (p.Gly28=)6390SDHBLikely benignrs1337602604RCV000940069; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737137217371372TC1:g.17371372T>C-
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)6390SDHBPathogenicrs74315369RCV000013623|RCV000013624|RCV000129929|RCV000471400|RCV000505368|RCV000657585; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:H11737137717371377GA1:g.17371377G>AClinGen:CA016187,OMIM:185470.0006C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)6390SDHBConflicting interpretations of pathogenicityrs74315369RCV000148870|RCV000408969|RCV000492780|RCV000455540|RCV000477264|RCV001527323; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phen11737137717371377GC1:g.17371377G>CClinGen:CA016179C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)6390SDHBUncertain significance-1RCV002002807; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737138317371383CA17371383-
NM_003000.3(SDHB):c.73-1G>A6390SDHBPathogenic/Likely pathogenicrs1131691055RCV000492329|RCV001059539|RCV001591132; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11737138417371384CT1:g.17371384C>TClinGen:CA338228458C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.73-2A>T6390SDHBLikely pathogenic-1RCV002016177; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737138517371385TA17371385-
NM_003000.3(SDHB):c.73-5T>G6390SDHBUncertain significancers747649519RCV001217069; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737138817371388AC1:g.17371388A>C-
NM_003000.3(SDHB):c.73-7A>C6390SDHBLikely benignrs770733541RCV001062511; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737139017371390TG1:g.17371390T>G-
NM_003000.3(SDHB):c.73-7del6390SDHBBenign-1RCV002115983; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737139017371390ATA17371389-
NM_003000.3(SDHB):c.73-9A>G6390SDHBUncertain significancers1553178757RCV000505287|RCV001218490; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP11737139217371392TCNC_000001.10:g.17371392T>CClinGen:CA645509073C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.73-11A>C6390SDHBLikely benignrs927103985RCV001810677|RCV002070106; NMedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen11737139417371394TG17371394-
NM_003000.3(SDHB):c.73-13T>G6390SDHBLikely benign-1RCV002088382; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611737139617371396AC17371396-
NM_003000.3(SDHB):c.73-17A>C6390SDHBLikely benign-1RCV002184265; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111737140017371400TG17371400-
NM_003000.3(SDHB):c.73-29del6390SDHBConflicting interpretations of pathogenicityrs745905902RCV001294090|RCV001587324|RCV001452806; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|MedGen:CN517202|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenot11737141217371412GAG17371411-
NC_000001.10:g.17375249_17390927del156796390SDHBPathogenic-1RCV000013635; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:2907211737524917390927nanaOMIM:185470.0017C1861848 115310 Paragangliomas 4;
NC_000001.10:g.17376556_17396932del203776390SDHBPathogenic-1RCV000013636; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:2907211737655617396932nanaOMIM:185470.0018C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.72+19G>C6390SDHBLikely benign-1RCV002115027; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738042417380424CG17380424-
NM_003000.3(SDHB):c.72+18A>G6390SDHBLikely benign-1RCV002183277; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738042517380425TC17380425-
NM_003000.3(SDHB):c.72+10G>A6390SDHBLikely benign-1RCV001426105; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738043317380433CT17380433-
NM_003000.3(SDHB):c.72+10G>C6390SDHBLikely benign-1RCV001491216; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738043317380433CG17380433-
NM_003000.3(SDHB):c.72+8C>T6390SDHBLikely benign-1RCV002103977; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738043517380435GA17380435-
NC_000001.10:g.(?_17380437)_(17380520_?)del6390SDHBPathogenic-1RCV000544511; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738043717380520nana-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.72G>C (p.Gln24His)6390SDHBUncertain significancers1553179312RCV001053994; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738044317380443CG1:g.17380443C>G-
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)6390SDHBUncertain significancers2078163018RCV001041707; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738044317380444CTGGNC_000001.10:g.17380443_17380444delinsGG-
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)6390SDHBUncertain significancers878854580RCV001344511; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738044417380444TC17380444-
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)6390SDHBUncertain significancers1553179319RCV000519644|RCV000633968; NMedGen:CN517202|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen11738044817380448GC1:g.17380448G>CClinGen:CA338230609C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)6390SDHBConflicting interpretations of pathogenicityrs141230910RCV000206152|RCV000573095|RCV000596063|RCV001101396|RCV001095936; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738045017380450CGNC_000001.10:g.17380450C>GClinGen:CA089705C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)6390SDHBUncertain significance-1RCV001993917; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738045317380453GC17380453-
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)6390SDHBUncertain significancers774266782RCV001321600; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738045417380454CT17380454-
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)6390SDHBUncertain significance-1RCV001371998; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738045717380457CG17380457-
NM_003000.3(SDHB):c.54T>C (p.Leu18=)6390SDHBLikely benignrs759446168RCV000872648|RCV001024191|RCV001483271; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29011738046117380461AG1:g.17380461A>G-
NM_003000.3(SDHB):c.54T>G (p.Leu18=)6390SDHBLikely benign-1RCV001414269; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738046117380461AC17380461-
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)6390SDHBUncertain significance-1RCV001370070; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738046317380463GA17380463-
NM_003000.3(SDHB):c.51C>T (p.Thr17=)6390SDHBLikely benign-1RCV002075283; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738046417380464GA17380464-
NM_003000.3(SDHB):c.51C>A (p.Thr17=)6390SDHBLikely benign-1RCV002116371; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738046417380464GT17380464-
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)6390SDHBUncertain significancers138979875RCV000132258|RCV000704459; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11738046517380465GT1:g.17380465G>TClinGen:CA015929C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.48A>C (p.Thr16=)6390SDHBLikely benignrs1570963474RCV000876749|RCV001551964; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738046717380467TG1:g.17380467T>G-
NM_003000.3(SDHB):c.45C>T (p.Ala15=)6390SDHBLikely benignrs764875162RCV001022765|RCV001398503; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11738047017380470GA1:g.17380470G>A-
NM_003000.3(SDHB):c.19_41dup (p.Ala15_Thr16insSerProTer)6390SDHBPathogenicrs794728951RCV001921860; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738047317380474CCGGCAACCGGCGCCTCAAGGAGAG17380473-
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)6390SDHBUncertain significance-1RCV002046965; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738047417380474GT17380474-
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)6390SDHBUncertain significancers1293365726RCV001050705; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738048017380480CT1:g.17380480C>T-
NM_003000.3(SDHB):c.33C>G (p.Arg11=)6390SDHBLikely benign-1RCV002192364; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738048217380482GC17380482-
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)6390SDHBUncertain significance-1RCV001890192; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738048517380485CA17380485-
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)6390SDHBConflicting interpretations of pathogenicityrs1570963545RCV001017896|RCV001873304; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11738048617380486CT1:g.17380486C>T-
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)6390SDHBUncertain significance-1RCV002009689; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738048817380488CG17380488-
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)6390SDHBPathogenicrs1060503767RCV000464374|RCV001380009; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738049217380493GGAGNC_000001.10:g.17380493AG[1]ClinGen:CA16609954C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)6390SDHBUncertain significancers199848267RCV000687472|RCV001015412|RCV001788326|RCV001843538; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738049217380492GANC_000001.10:g.17380492G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)6390SDHBUncertain significancers199848267RCV001037637; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738049217380492GT1:g.17380492G>T-
NM_003000.3(SDHB):c.20T>A (p.Leu7His)6390SDHBUncertain significance-1RCV002012700; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738049517380495AT17380495-
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)6390SDHBUncertain significancers2078164049RCV001324318; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738049617380497GGAT17380496-
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)6390SDHBUncertain significance-1RCV001911604; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738049617380497GGCT17380496-
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)6390SDHBPathogenic-1RCV001387810; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738049717380498GGGCAACCGGCGCCTCAAGGAGAGT17380497-
NM_003000.3(SDHB):c.15C>A (p.Val5=)6390SDHBLikely benignrs1182998682RCV000562714|RCV000945450; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty11738050017380500GT1:g.17380500G>TClinGen:CA416048822C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.15C>T (p.Val5=)6390SDHBLikely benignrs1182998682RCV001012308|RCV001482378; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H11738050017380500GA1:g.17380500G>A-
NM_003000.3(SDHB):c.15C>G (p.Val5=)6390SDHBLikely benign-1RCV001466220; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738050017380500GC17380500-
NM_003000.3(SDHB):c.12G>A (p.Val4=)6390SDHBLikely benignrs768683606RCV000876746|RCV001010854; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738050317380503CT1:g.17380503C>T-
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)6390SDHBUncertain significancers11203289RCV001349303; NMONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611738050717380507GT17380507-
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)6390SDHBUncertain significance-1RCV001359774; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:111738050817380508CT17380508-
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)6390SDHBPathogenic/Likely pathogenicrs1131691061RCV000492186|RCV000550393|RCV001379744; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:011738051217380512CT1:g.17380512C>TClinGen:CA338230889C0027672 Hereditary cancer-predisposing syndrome;
MSeqDR Portal