MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Neoplastic Syndromes, Hereditary (D009386)
Parent Node:
expand
Paraganglioma (D010235)
..Starting node
..expand
Paragangliomas 3 (C565335)

       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:9481
Name:Paragangliomas 3
Definition:
Alternative IDs:OMIM:605373
ParentIDs:MESH:D009386|MESH:D010235
TreeNumbers:C04.557.465.625.650.700/C565335 |C04.557.580.625.650.700/C565335 |C04.700/C565335 |C16.320.700/C565335
Synonyms:Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas |Glomus Tumors, Familial, 3 |Paraganglioma, Familial Malignant |Paragangliomas 4 |Paragangliomas, Hereditary Extraadrenal |PGL3 |Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma |Pheochro
Slim Mappings:Cancer|Genetic disease (inborn)
Reference: MedGen: C565335
MeSH: C565335
OMIM: 605373;
MSeqDR LSDB:  
Genes: SDHC;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0006748Adrenal pheochromocytoma
4 HP:0030074Chemodectoma
5 HP:0006824Cranial nerve paralysis
6 HP:0003334Elevated circulating catecholamine level
7 HP:0000740Episodic paroxysmal anxiety
8 HP:0006737Extraadrenal pheochromocytoma
9 HP:0003001Glomus jugular tumor
10 HP:0001609Hoarse voice
11 HP:0000975Hyperhidrosis
12 HP:0002640Hypertension associated with pheochromocytoma
13 HP:0001686Loss of voice
14 HP:0001962Palpitations
15 HP:0008629Pulsatile tinnitus
16 HP:0002331Recurrent paroxysmal headache
17 HP:0001649Tachycardia
18 HP:0001605Vocal cord paralysis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000001.10:g.(?_160786670)_(161332233_?)dup6391SDHCUncertain significance-1RCV000792787; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901160786670161332233-
NC_000001.11:g.(?_160816880)_(161362518_?)dup6391SDHCUncertain significance-1RCV001031279; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901160786670161332308-1-
NC_000001.11:g.(?_161314368)_(161328507_?)dup6391SDHCUncertain significance-1RCV001033516; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284158161298297-1-
NC_000001.11:g.(?_161314368)_(161362518_?)del6391SDHCPathogenic-1RCV001032436; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284158161332308-1-
NC_000001.11:g.(?_161314368)_(161362518_?)dup6391SDHCUncertain significance-1RCV001032001; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284158161332308-1-
NC_000001.10:g.(?_161284158)_(161284225_?)dup6391SDHCUncertain significance-1RCV001900565; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284158161284225-1-
NC_000001.10:g.(?_161284158)_(161284225_?)del6391SDHCPathogenic-1RCV003113182; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284158161284225-
NM_003001.5(SDHC):c.-32T>C6391SDHCBenign115782155RCV000293942|RCV000444699|RCV001810872|RCV003316509; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612841641612841641:g.161284164T>CClinGen:CA089450CN169374 not specified;
NC_000001.10:g.(?_161284186)_(161332233_?)dup6391SDHCUncertain significance-1RCV000707786; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284186161332233-C0238198 606764 Gastrointestinal stroma tumor;
NC_000001.11:g.(?_161314396)_(161340665_?)dup6391SDHCUncertain significance-1RCV001031931; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284186161310455-1-
NC_000001.10:g.(?_161284190)_(161332229_?)dup6391SDHCUncertain significance-1RCV000533978; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284190161332229-C0238198 606764 Gastrointestinal stroma tumor;
NC_000001.11:g.(?_161314400)_(161362439_?)del6391SDHCPathogenic-1RCV000641928; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284190161332229-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.1A>G (p.Met1Val)6391SDHCPathogenic755235380RCV000467345|RCV000492170|RCV000791400|RCV001559453; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|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:01161284196161284196NC_000001.10:g.161284196A>GClinGen:CA046289C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)6391SDHCPathogenic755235380RCV000809572; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612841961612841961:g.161284196A>T-
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)6391SDHCPathogenic-1RCV002933132; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284196161284196NC_000001.10:g.161284196A>C-
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)6391SDHCLikely pathogenic1670517782RCV001244070; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612841971612841971:g.161284197T>G-
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)6391SDHCPathogenic587776652RCV000007663|RCV000812224; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612841981612841981:g.161284198G>AClinGen:CA016312,OMIM:602413.0001C1854336 605373 Paragangliomas 3;
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)6391SDHCUncertain significance1198315342RCV000542616|RCV003159828|RCV003476281; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenoty11612841991612841991:g.161284199G>AClinGen:CA343354908C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)6391SDHCUncertain significance1198315342RCV001056965; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612841991612841991:g.161284199G>C-
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)6391SDHCUncertain significance781337432RCV000821924|RCV003307554; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612842001612842001:g.161284200C>G-
NM_003001.5(SDHC):c.6T>C (p.Ala2=)6391SDHCLikely benign775353334RCV000206464|RCV001025908; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161284201161284201ClinGen:CA350492C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.6T>G (p.Ala2=)6391SDHCLikely benign775353334RCV002205624|RCV002361471; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161284201161284201-
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)6391SDHCUncertain significance748243732RCV000472430|RCV001027045|RCV002481414|RCV003233639; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenoty1161284202161284202NC_000001.10:g.161284202G>TClinGen:CA048618C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)6391SDHCUncertain significance748243732RCV000462901|RCV002418367|RCV003153608|RCV003476039; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366191161284202161284202NC_000001.10:g.161284202G>AClinGen:CA048607C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)6391SDHCUncertain significance142139022RCV000148872|RCV000471140|RCV000563869|RCV002464125|RCV002465536; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:611612842031612842031:g.161284203C>TClinGen:CA011497C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)6391SDHCUncertain significance142139022RCV001222737|RCV002256707; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612842031612842031:g.161284203C>A-
NM_003001.5(SDHC):c.9G>A (p.Ala3=)6391SDHCLikely benign749265569RCV000863201|RCV001019973|RCV001811513|RCV003117626; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366191161284204161284204-
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)6391SDHCUncertain significance770796603RCV000641905; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612842051612842051:g.161284205C>GClinGen:CA343354959C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)6391SDHCUncertain significance774299337RCV000411462|RCV000547937|RCV000759341|RCV002348125|RCV003475993; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C366190011612842061612842061:g.161284206T>CClinGen:CA045713C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)6391SDHCUncertain significance774299337RCV001241983; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612842061612842061:g.161284206T>G-
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)6391SDHCUncertain significance-1RCV002295767; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284206161284206161284206-
NM_003001.5(SDHC):c.12G>T (p.Leu4=)6391SDHCLikely benign745443094RCV001284703|RCV001446166|RCV002379975; NMedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161284207161284207-
NM_003001.5(SDHC):c.12G>A (p.Leu4=)6391SDHCLikely benign745443094RCV001946643; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284207161284207-
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)6391SDHCUncertain significance894925936RCV000821325|RCV001011373|RCV001284704|RCV003473514; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661911612842081612842081:g.161284208T>A-
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)6391SDHCUncertain significance1277411736RCV000700226|RCV001597205|RCV002388305; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161284209161284209NC_000001.10:g.161284209T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)6391SDHCUncertain significance1325823872RCV001216251; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612842111612842111:g.161284211C>G-
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)6391SDHCUncertain significance1211574644RCV001060877; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612842121612842121:g.161284212T>C-
NM_003001.5(SDHC):c.18G>C (p.Leu6=)6391SDHCLikely benign1571828901RCV000976922; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284213161284213-
NM_003001.5(SDHC):c.19A>C (p.Arg7=)6391SDHCUncertain significance1670521233RCV001061790; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284214161284214-
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)6391SDHCUncertain significance2102271857RCV002044863; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284215161284215161284215-
NM_003001.5(SDHC):c.20+1G>T6391SDHCLikely pathogenic1249046874RCV001378182; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284216161284216161284216-
NM_003001.5(SDHC):c.20+3G>A6391SDHCUncertain significance377566366RCV000465673; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284218161284218NC_000001.10:g.161284218G>AClinGen:CA046376C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.20+3G>C6391SDHCUncertain significance377566366RCV001313116; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284218161284218161284218-
NM_003001.5(SDHC):c.20+4del6391SDHCUncertain significance2102271885RCV001911942|RCV002422945; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161284219161284219161284218-
NM_003001.5(SDHC):c.20+4A>G6391SDHCUncertain significance-1RCV003053590; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284219161284219NC_000001.10:g.161284219A>G-
NM_003001.5(SDHC):c.20+5C>T6391SDHCUncertain significance760206414RCV001230036; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612842201612842201:g.161284220C>T-
NM_003001.5(SDHC):c.20+6T>G6391SDHCUncertain significance1013252106RCV001206867|RCV003473752; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C011612842211612842211:g.161284221T>G-
NM_003001.5(SDHC):c.20+6T>A6391SDHCUncertain significance-1RCV003086312; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284221161284221NC_000001.10:g.161284221T>A-
NM_003001.5(SDHC):c.20+7T>G6391SDHCLikely benign1553260599RCV000641924; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612842221612842221:g.161284222T>GClinGen:CA658795558C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.20+8C>A6391SDHCLikely benign773661299RCV000983249; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612842231612842231:g.161284223C>A-
NM_003001.5(SDHC):c.20+8C>T6391SDHCLikely benign773661299RCV001491660; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284223161284223161284223-
NM_003001.5(SDHC):c.20+9A>C6391SDHCLikely benign1271741954RCV001412789; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284224161284224161284224-
NM_003001.5(SDHC):c.20+10_20+11insCG6391SDHCLikely benign2102271943RCV001486012; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284224161284225161284224-
NM_003001.5(SDHC):c.20+9A>G6391SDHCLikely benign-1RCV002847808; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284224161284224NC_000001.10:g.161284224A>G-
NM_003001.5(SDHC):c.20+10G>A6391SDHCLikely benign1060504224RCV000473036; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284225161284225NC_000001.10:g.161284225G>AClinGen:CA16609908C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.20+12_20+13insTA6391SDHCLikely benign1403146281RCV000608623|RCV002064062; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284227161284228NC_000001.10:g.161284227_161284228insTAClinGen:CA526856681CN169374 not specified;
NM_003001.5(SDHC):c.20+12G>C6391SDHCLikely benign1014189365RCV002107222; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284227161284227161284227-
NM_003001.5(SDHC):c.20+14G>T6391SDHCUncertain significance2102272018RCV001902687; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284229161284229161284229-
NM_003001.5(SDHC):c.20+16C>A6391SDHCLikely benign2102272025RCV002202943; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284231161284231161284231-
NM_003001.5(SDHC):c.20+17T>A6391SDHCLikely benign2102272030RCV002103421; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284232161284232161284232-
NM_003001.5(SDHC):c.20+18G>A6391SDHCLikely benign2102272035RCV002081375; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284233161284233161284233-
NM_003001.5(SDHC):c.20+20G>T6391SDHCLikely benign763464678RCV001919192; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161284235161284235161284235-
NM_003001.5(SDHC):c.20+22G>C6391SDHCLikely benign182261879RCV000411310|RCV002268040; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:CN1693741161284237161284237NC_000001.10:g.161284237G>CClinGen:CA046318C1854336 605373 Paragangliomas 3;
NM_003001.5(SDHC):c.20+98C>T6391SDHCUncertain significance-1RCV002795515; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161284313161284313NC_000001.10:g.161284313C>T-
NM_003001.5(SDHC):c.20+4066C>G6391SDHCUncertain significance-1RCV002904479; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161288281161288281NC_000001.10:g.161288281C>G-
NC_000001.10:g.(?_161293394)_(161332233_?)dup6391SDHCUncertain significance-1RCV000823240; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293394161332233-
NM_003001.5(SDHC):c.21-10T>C6391SDHCLikely benign771805280RCV001456008; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612933941612933941:g.161293394T>C-
NC_000001.11:g.(?_161323604)_(161328507_?)del6391SDHCPathogenic-1RCV001031710; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293394161298297-1-
NC_000001.11:g.(?_161323604)_(161362518_?)dup6391SDHCUncertain significance-1RCV001033291; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293394161332308-1-
NC_000001.10:g.(?_161293394)_(161293470_?)del6391SDHCPathogenic-1RCV001343953; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293394161293470-1-
NM_003001.5(SDHC):c.21-9A>G6391SDHCLikely benign2102295295RCV001467501; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293395161293395161293395-
NM_003001.5(SDHC):c.21-9A>T6391SDHCLikely benign2102295295RCV001489102; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293395161293395161293395-
NM_003001.5(SDHC):c.21-8T>C6391SDHCLikely benign1571843525RCV001444036; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612933961612933961:g.161293396T>C-
NC_000001.10:g.(?_161293398)_(161332229_?)dup6391SDHCUncertain significance-1RCV000548889; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293398161332229-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.21-6T>C6391SDHCLikely benign779721144RCV001452058; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293398161293398161293398-
NM_003001.5(SDHC):c.21-3C>G6391SDHCUncertain significance1670921815RCV001232924; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612934011612934011:g.161293401C>G-
NM_003001.5(SDHC):c.21-3C>T6391SDHCUncertain significance1670921815RCV001987672; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293401161293401161293401-
NM_003001.5(SDHC):c.21-2A>G6391SDHCPathogenic/Likely pathogenic1131691062RCV000492770|RCV001240954|RCV002063854; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C3661911612934021612934021:g.161293402A>GClinGen:CA343359222C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.21-1G>A6391SDHCLikely pathogenic-1RCV002797062; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293403161293403NC_000001.10:g.161293403G>A-
NC_000001.11:g.(?_161323614)_(161323670_?)del6391SDHCUncertain significance-1RCV000476273; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293404161293460-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)6391SDHCUncertain significance746666691RCV000555154|RCV003302832; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934051612934051:g.161293405C>TClinGen:CA046597C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.22C>A (p.His8Asn)6391SDHCUncertain significance746666691RCV002045911|RCV002458994|RCV003339895; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:01161293405161293405161293405-
NM_003001.5(SDHC):c.23A>G (p.His8Arg)6391SDHCUncertain significance776123707RCV001346280|RCV002447417; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161293406161293406161293406-
NM_003001.5(SDHC):c.24C>A (p.His8Gln)6391SDHCUncertain significance761381438RCV000543957|RCV001015761; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934071612934071:g.161293407C>AClinGen:CA047351C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.24C>T (p.His8=)6391SDHCLikely benign761381438RCV000558743|RCV001015721; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161293407161293407ClinGen:CA047387C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)6391SDHCUncertain significance774768866RCV000234613|RCV002429110|RCV003227726; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661911612934081612934081:g.161293408G>AClinGen:CA047404C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)6391SDHCUncertain significance774768866RCV001207219; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612934081612934081:g.161293408G>T-
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)6391SDHCUncertain significance1670923061RCV001308663|RCV003313212; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C36619001161293412161293412161293412-
NM_003001.5(SDHC):c.30T>C (p.Gly10=)6391SDHCLikely benign1170595036RCV000557821|RCV003159827; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161293413161293413ClinGen:CA421407183
NM_003001.5(SDHC):c.30T>G (p.Gly10=)6391SDHCLikely benign-1RCV002933702; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293413161293413-
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)6391SDHCUncertain significance759914119RCV000700704|RCV002268262|RCV002325411; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111612934141612934141:g.161293414C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)6391SDHCUncertain significance767802663RCV000167052|RCV000477280|RCV001657929|RCV003474886; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661911612934151612934151:g.161293415G>TClinGen:CA011533C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.32G>A (p.Arg11His)6391SDHCUncertain significance767802663RCV000233939|RCV001762528|RCV002256146; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111612934151612934151:g.161293415G>AClinGen:CA047588C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.34C>G (p.His12Asp)6391SDHCUncertain significance1670923808RCV001299212|RCV003373104; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161293417161293417161293417-
NM_003001.5(SDHC):c.35A>G (p.His12Arg)6391SDHCUncertain significance1670923933RCV001208768; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612934181612934181:g.161293418A>G-
NM_003001.5(SDHC):c.35A>T (p.His12Leu)6391SDHCUncertain significance-1RCV002751546; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293418161293418NC_000001.10:g.161293418A>T-
NM_003001.5(SDHC):c.36T>C (p.His12=)6391SDHCLikely benign-1RCV002654549; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293419161293419-
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)6391SDHCUncertain significance1558164528RCV000694826; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612934211612934211:g.161293421G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)6391SDHCUncertain significance1558164528RCV001230946; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612934211612934211:g.161293421G>A-
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)6391SDHCUncertain significance760986608RCV000506825|RCV000535370|RCV001021867; NMedGen:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161293423161293423NC_000001.10:g.161293423C>TClinGen:CA047926C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.42C>T (p.Leu14=)6391SDHCConflicting interpretations of pathogenicity1331533952RCV000641925|RCV003325505|RCV002331176; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161293425161293425ClinGen:CA421407227
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)6391SDHCPathogenic201286421RCV000034695|RCV000128874|RCV000486068|RCV000505325|RCV000627763|RCV003473256; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,Me11612934261612934261:g.161293426C>TClinGen:CA011542C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)6391SDHCUncertain significance201286421RCV001875430|RCV002473317|RCV003166944; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161293426161293426161293426-
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)6391SDHCUncertain significance1294873008RCV000811379|RCV001022590; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934271612934271:g.161293427G>A-
NM_003001.5(SDHC):c.45A>T (p.Arg15=)6391SDHCLikely benign1007336839RCV001414786|RCV002341897; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161293428161293428-
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)6391SDHCUncertain significance878994954RCV000821024|RCV002332706; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934291612934291:g.161293429G>A-
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)6391SDHCUncertain significance1558164567RCV000697414; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612934301612934301:g.161293430C>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)6391SDHCUncertain significance1558164567RCV000699024|RCV003472228; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C01161293430161293430NC_000001.10:g.161293430C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.49del (p.His17fs)6391SDHCPathogenic-1RCV003149096; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293430161293430-
NM_003001.5(SDHC):c.48C>G (p.Ala16=)6391SDHCLikely benign1553261765RCV000601408|RCV001475011|RCV002331076; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161293431161293431ClinGen:CA421407245CN169374 not specified;
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)6391SDHCUncertain significance2102295552RCV001372274; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293432161293432161293432-
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)6391SDHCConflicting interpretations of pathogenicity200761743RCV000223312|RCV000552969|RCV001101382; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:011612934371612934371:g.161293437T>GClinGen:CA048079C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.54T>C (p.Phe18=)6391SDHCLikely benign200761743RCV002161259; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293437161293437-
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)6391SDHCUncertain significance1670926798RCV001318927; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293438161293438161293438-
NM_003001.5(SDHC):c.60T>G (p.Pro20=)6391SDHCLikely benign2102295634RCV001412745; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293443161293443-
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)6391SDHCUncertain significance1553261768RCV000560999|RCV000641909; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612934441612934441:g.161293444C>GClinGen:CA343359552C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.63G>A (p.Gln21=)6391SDHCLikely benign-1RCV002624899; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293446161293446-
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)6391SDHCUncertain significance1473438869RCV000526806|RCV000663232|RCV001025343|RCV001764571; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:00111612934471612934471:g.161293447C>TClinGen:CA343359574C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.66C>G (p.Leu22=)6391SDHCLikely benign778965036RCV000541789|RCV002268151; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN1693741161293449161293449ClinGen:CA421407326C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.66C>T (p.Leu22=)6391SDHCLikely benign778965036RCV001399913|RCV002368257; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161293449161293449-
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)6391SDHCUncertain significance-1RCV002862369; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293449161293457NC_000001.10:g.161293449_161293457del-
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)6391SDHCUncertain significance2102295690RCV001975378; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293450161293450161293450-
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn)6391SDHCUncertain significance2102295698RCV001999496; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293454161293454161293454-
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)6391SDHCUncertain significance878854587RCV000229192|RCV002378989; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934561612934561:g.161293456A>GClinGen:CA10581735C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)6391SDHCUncertain significance-1RCV003104850; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293457161293457NC_000001.10:g.161293457G>T-
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)6391SDHCUncertain significance1670928309RCV001202058|RCV002402574; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934591612934591:g.161293459A>G-
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)6391SDHCUncertain significance1670928456RCV001338813; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293460161293460161293460-
NM_003001.5(SDHC):c.77+1G>A6391SDHCLikely pathogenic1558164647RCV001026732|RCV001221046; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612934611612934611:g.161293461G>A-
NM_003001.5(SDHC):c.77+2dup6391SDHCConflicting interpretations of pathogenicity766486676RCV001038332|RCV002400228; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612934611612934621:g.161293461_161293462insT-
NM_003001.5(SDHC):c.77+1G>C6391SDHCLikely pathogenic-1RCV003149093; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293461161293461-
NM_003001.5(SDHC):c.77+3A>G6391SDHCUncertain significance750363498RCV001062893; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612934631612934631:g.161293463A>G-
NM_003001.5(SDHC):c.77+5G>C6391SDHCUncertain significance-1RCV003028051; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293465161293465NC_000001.10:g.161293465G>C-
NM_003001.5(SDHC):c.77+9C>T6391SDHCLikely benign2102295766RCV002194231; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161293469161293469161293469-
NM_003001.5(SDHC):c.77+9C>G6391SDHCUncertain significance-1RCV002667021; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161293469161293469NC_000001.10:g.161293469C>G-
NM_003001.5(SDHC):c.78-19C>T6391SDHCLikely benign144770080RCV000426300|RCV001528754|RCV002063443; NMedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612981671612981671:g.161298167C>TClinGen:CA048564CN169374 not specified;
NM_003001.5(SDHC):c.78-19C>A6391SDHCLikely benign144770080RCV001927008; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298167161298167161298167-
NM_003001.5(SDHC):c.78-18G>A6391SDHCLikely benign780106501RCV001902031; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298168161298168161298168-
NM_003001.5(SDHC):c.78-17G>A6391SDHCLikely benign-1RCV003058422; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298169161298169NC_000001.10:g.161298169G>A-
NM_003001.5(SDHC):c.78-16T>C6391SDHCLikely benign2102307516RCV002215538; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298170161298170161298170-
NM_003001.5(SDHC):c.78-15C>T6391SDHCLikely benign-1RCV003051172; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298171161298171NC_000001.10:g.161298171C>T-
NC_000001.10:g.(?_161298176)_(161332308_?)dup6391SDHCUncertain significance-1RCV001918030; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298176161332308-1-
NC_000001.10:g.(?_161298176)_(161298297_?)del6391SDHCPathogenic-1RCV003113180; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298176161298297-
NM_003001.5(SDHC):c.78-9T>G6391SDHCLikely benign2102307530RCV001429907; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298177161298177161298177-
NM_003001.5(SDHC):c.78-1G>T6391SDHCLikely pathogenic786202200RCV000641911|RCV003380656; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612981851612981851:g.161298185G>TClinGen:CA343360805C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.81T>C (p.Ala27=)6391SDHCLikely benign876659297RCV000218349|RCV000552112; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298189161298189ClinGen:CA10577664C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)6391SDHCUncertain significance754818119RCV000707254|RCV001258164|RCV002424725|RCV002485777; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011161298190161298190NC_000001.10:g.161298190G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)6391SDHCUncertain significance754818119RCV000793631|RCV002424797; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612981901612981901:g.161298190G>A-
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)6391SDHCUncertain significance754818119RCV001208039|RCV002509630; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C366190011612981901612981901:g.161298190G>C-
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)6391SDHCUncertain significance878854588RCV000233108|RCV001018077|RCV003153529; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661911612981931612981931:g.161298193C>GClinGen:CA10581736C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.86del (p.Pro29fs)6391SDHCPathogenic1671145065RCV001064681; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612981931612981931:g.161298193_161298193del-
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)6391SDHCUncertain significance1671145169RCV001208446; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612981941612981941:g.161298194C>T-
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)6391SDHCUncertain significance-1RCV002302137; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298199161298199161298199-
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)6391SDHCUncertain significance1457574786RCV000530558|RCV003302833; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298202161298202NC_000001.10:g.161298202A>GClinGen:CA343360898C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)6391SDHCUncertain significance1571851464RCV001019542|RCV001204950; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982031612982031:g.161298203C>A-
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)6391SDHCUncertain significance1571851464RCV001359750; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298203161298203161298203-
NM_003001.5(SDHC):c.96C>T (p.Thr32=)6391SDHCLikely benign1671145722RCV001416872; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298204161298204-
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)6391SDHCUncertain significance747828462RCV001240362|RCV003166499; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612982051612982051:g.161298205A>G-
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)6391SDHCUncertain significance148566767RCV000459835|RCV000561060|RCV000759344|RCV003401466|RCV003424016|RCV003476037; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366191161298206161298206NC_000001.10:g.161298206C>TClinGen:CA048701C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)6391SDHCUncertain significance148566767RCV001063469; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982061612982061:g.161298206C>A-
NM_003001.5(SDHC):c.99G>A (p.Thr33=)6391SDHCConflicting interpretations of pathogenicity145535502RCV000571257|RCV000641920|RCV001697418|RCV003392416; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C366191161298207161298207ClinGen:CA048713
NM_003001.5(SDHC):c.99G>T (p.Thr33=)6391SDHCLikely benign145535502RCV000641927|RCV002386065; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298207161298207ClinGen:CA31686006C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.102C>T (p.Ala34=)6391SDHCLikely benign1571851493RCV001009750|RCV001409772; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298210161298210-
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu)6391SDHCUncertain significance746315913RCV001017121|RCV001035296; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982111612982111:g.161298211A>G-
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)6391SDHCUncertain significance1342764291RCV001322510; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298212161298212161298212-
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)6391SDHCPathogenic-1RCV003316970; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298215161298216-
NM_003001.5(SDHC):c.108A>G (p.Glu36=)6391SDHCLikely benign2102307691RCV001399153|RCV002449096; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298216161298216-
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)6391SDHCUncertain significance1671147192RCV001344166|RCV002438791; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298218161298218161298218-
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)6391SDHCUncertain significance-1RCV003045586; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298218161298218NC_000001.10:g.161298218A>G-
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)6391SDHCUncertain significance1671147353RCV001247507; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982211612982211:g.161298221T>C-
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)6391SDHCUncertain significance868556406RCV000641915|RCV002458062; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612982221612982221:g.161298222G>CClinGen:CA31686019C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)6391SDHCUncertain significance1060501388RCV000456335|RCV002256262|RCV003476036; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenoty1161298224161298224NC_000001.10:g.161298224A>CClinGen:CA16609909C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)6391SDHCUncertain significance978019587RCV000641916|RCV001284702|RCV002334117|RCV003320716|RCV003472032; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111612982261612982261:g.161298226C>TClinGen:CA31686023C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)6391SDHCUncertain significance978019587RCV000695000; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612982261612982261:g.161298226C>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.118del (p.Arg40fs)6391SDHCPathogenic-1RCV002342914|RCV003316865; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298226161298226161298225-
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)6391SDHCUncertain significance772450693RCV000226923|RCV000568226|RCV000663162|RCV001582772|RCV003430783|RCV003475063; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:011612982271612982271:g.161298227G>AClinGen:CA045699C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.120G>C (p.Arg40=)6391SDHCLikely benign36097930RCV001441257|RCV002358987; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298228161298228-
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)6391SDHCUncertain significance2102307780RCV001960802; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298229161298229161298229-
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)6391SDHCUncertain significance1671152402RCV001056822|RCV003307883; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612982301612982301:g.161298230T>C-
NM_003001.5(SDHC):c.124del (p.Trp42fs)6391SDHCPathogenic2102307803RCV001385231; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298232161298232161298231-
NM_003001.5(SDHC):c.127A>C (p.Asn43His)6391SDHCUncertain significance1553262439RCV000641914|RCV001800837|RCV002386064; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111612982351612982351:g.161298235A>CClinGen:CA343361095C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)6391SDHCUncertain significance747349777RCV000233052|RCV000763756|RCV001095933|RCV002378988; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C011612982361612982361:g.161298236A>GClinGen:CA045754C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu)6391SDHCUncertain significance2102307825RCV002043605; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298238161298238161298238-
NM_003001.5(SDHC):c.132G>A (p.Lys44=)6391SDHCLikely benign2102307834RCV001398991|RCV002384574; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298240161298240-
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)6391SDHCUncertain significance-1RCV002791365; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298241161298241NC_000001.10:g.161298241A>G-
NM_003001.5(SDHC):c.135T>C (p.Asn45=)6391SDHCLikely benign2102307847RCV002080350; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298243161298243-
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)6391SDHCUncertain significance1558167321RCV000704346|RCV002386263; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612982441612982441:g.161298244A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)6391SDHCUncertain significance-1RCV003033011; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298245161298245NC_000001.10:g.161298245T>C-
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)6391SDHCUncertain significance-1RCV003006350; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298247161298247NC_000001.10:g.161298247G>A-
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)6391SDHCUncertain significance1571851599RCV000794414; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982481612982481:g.161298248G>C-
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)6391SDHCUncertain significance1362354860RCV001896574; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298251161298251161298251-
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)6391SDHCUncertain significance1571851610RCV000807849; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982541612982541:g.161298254A>G-
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)6391SDHCUncertain significance1571851610RCV002016061|RCV003161185; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298254161298254161298254-
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)6391SDHCConflicting interpretations of pathogenicity587778661RCV000122003|RCV000492504|RCV000641913|RCV000756631|RCV000826184|RCV003474732; NMedGen:CN169374|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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29011612982561612982561:g.161298256C>TClinGen:CA011515C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)6391SDHCUncertain significance769177037RCV000526350; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982571612982571:g.161298257G>TClinGen:CA343361232C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.149G>A (p.Arg50His)6391SDHCUncertain significance769177037RCV000794964|RCV002388432; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612982571612982571:g.161298257G>A-
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)6391SDHCUncertain significance1428542772RCV002031436; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298260161298260161298260-
NM_003001.5(SDHC):c.154C>T (p.Leu52=)6391SDHCLikely benign-1RCV003043341; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298262161298262-
NM_003001.5(SDHC):c.156G>C (p.Leu52=)6391SDHCLikely benign987490127RCV000982840|RCV003380798; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298264161298264-
NM_003001.5(SDHC):c.156G>A (p.Leu52=)6391SDHCLikely benign987490127RCV002212911; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298264161298264-
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)6391SDHCConflicting interpretations of pathogenicity1553262444RCV000541211|RCV001770438|RCV002395388; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111612982681612982681:g.161298268C>AClinGen:CA343361279C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.162C>A (p.Pro54=)6391SDHCLikely benign374450282RCV000556076|RCV002404453; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298270161298270ClinGen:CA045852C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.163C>G (p.His55Asp)6391SDHCUncertain significance1671155800RCV001237986; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612982711612982711:g.161298271C>G-
NM_003001.5(SDHC):c.164A>G (p.His55Arg)6391SDHCUncertain significance878854585RCV000227923|RCV001770197|RCV002392696; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161298272161298272NC_000001.10:g.161298272A>GClinGen:CA10581737C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.165C>T (p.His55=)6391SDHCConflicting interpretations of pathogenicity786202080RCV000164716|RCV000904718|RCV001089365; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4481161298273161298273ClinGen:CA011524C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)6391SDHCUncertain significance1363555121RCV000641919|RCV003162892; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211612982741612982741:g.161298274A>CClinGen:CA343361311C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)6391SDHCUncertain significance1363555121RCV001360503|RCV002255651; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298274161298274161298274-
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)6391SDHCUncertain significance-1RCV002406276|RCV003097135; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298277161298277161298277-
NM_003001.5(SDHC):c.171_179+15del6391SDHCLikely pathogenic1671156558RCV001243668; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982791612983021:g.161298279_161298302del-
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)6391SDHCUncertain significance1671156871RCV001217601; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982801612982811:g.161298280_161298281insTCT-
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)6391SDHCUncertain significance999134407RCV001898711|RCV003303349; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298281161298281161298281-
NM_003001.5(SDHC):c.174C>A (p.Ile58=)6391SDHCLikely benign-1RCV002629812|RCV003274315; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298282161298282-
NM_003001.5(SDHC):c.175del (p.Tyr59fs)6391SDHCPathogenic1671157149RCV001233063; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211612982831612982831:g.161298283_161298283del-
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)6391SDHCUncertain significance-1RCV002296534; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298283161298283161298283-
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)6391SDHCPathogenic-1RCV003316997; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298285161298285-
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)6391SDHCUncertain significance1571851728RCV000796480; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982861612982861:g.161298286A>G-
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)6391SDHCUncertain significance1179839529RCV001885713|RCV002406980; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161298287161298287161298287-
NM_003001.5(SDHC):c.179+1G>C6391SDHCLikely pathogenic1057517818RCV000414585|RCV000492312|RCV001047084|RCV003323526; NMedGen:C3661900|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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29011612982881612982881:g.161298288G>CClinGen:CA16042288C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.179+1G>T6391SDHCLikely pathogenic1057517818RCV001975845|RCV003475264; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C01161298288161298288161298288-
NM_003001.5(SDHC):c.179+3A>C6391SDHCUncertain significance1571851753RCV000801370|RCV003472367; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C011612982901612982901:g.161298290A>C-
NM_003001.5(SDHC):c.179+3A>G6391SDHCUncertain significance-1RCV002642455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298290161298290NC_000001.10:g.161298290A>G-
NM_003001.5(SDHC):c.179+4A>G6391SDHCUncertain significance-1RCV002842398; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298291161298291NC_000001.10:g.161298291A>G-
NM_003001.5(SDHC):c.179+5G>C6391SDHCUncertain significance1671157979RCV001338236; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298292161298292161298292-
NM_003001.5(SDHC):c.179+10_179+19del6391SDHCLikely benign2102308128RCV002189902; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298295161298304161298294-
NM_003001.5(SDHC):c.179+8A>C6391SDHCLikely benign2102308122RCV002087361; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161298295161298295161298295-
NM_003001.5(SDHC):c.179+9G>A6391SDHCLikely benign1558167376RCV000951393; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011612982961612982961:g.161298296G>A-
NM_003001.5(SDHC):c.179+10G>A6391SDHCBenign/Likely benign532455044RCV000473017|RCV000663273|RCV001284705; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:CN1693741161298297161298297NC_000001.10:g.161298297G>AClinGen:CA045881C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.179+12T>C6391SDHCLikely benign-1RCV002999967; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298299161298299NC_000001.10:g.161298299T>C-
NM_003001.5(SDHC):c.179+17G>C6391SDHCLikely benign2102308146RCV001969746; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298304161298304161298304-
NM_003001.5(SDHC):c.179+20C>A6391SDHCLikely benign2102308154RCV002081450; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161298307161298307161298307-
NM_003001.5(SDHC):c.179+3405A>G6391SDHCUncertain significance-1RCV002828842; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161301692161301692NC_000001.10:g.161301692A>G-
NM_003001.5(SDHC):c.180-19T>C6391SDHCLikely benign-1RCV003074850; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310365161310365NC_000001.10:g.161310365T>C-
NM_003001.5(SDHC):c.180-16G>A6391SDHCLikely benign-1RCV002681082; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310368161310368NC_000001.10:g.161310368G>A-
NM_003001.5(SDHC):c.180-15T>A6391SDHCLikely benign2102335958RCV002107121; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310369161310369161310369-
NM_003001.5(SDHC):c.180-13T>C6391SDHCLikely benign-1RCV002681354; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310371161310371NC_000001.10:g.161310371T>C-
NM_003001.5(SDHC):c.180-12G>A6391SDHCLikely benign-1RCV003009456; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310372161310372NC_000001.10:g.161310372G>A-
NM_003001.5(SDHC):c.180-11T>G6391SDHCLikely benign201473466RCV002080620; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310373161310373161310373-
NC_000001.10:g.(?_161310374)_(161332233_?)dup6391SDHCUncertain significance-1RCV000707877; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310374161332233-C0238198 606764 Gastrointestinal stroma tumor;
NC_000001.11:g.(?_161340584)_(161340665_?)dup6391SDHCLikely pathogenic-1RCV001031028; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310374161310455-1-
NC_000001.11:g.(?_161340584)_(161356850_?)del6391SDHCPathogenic-1RCV001033600; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310374161326640-1-
NC_000001.11:g.(?_161340584)_(161362518_?)dup6391SDHCUncertain significance-1RCV001031736; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310374161332308-1-
NC_000001.10:g.(?_161310374)_(161310455_?)del6391SDHCPathogenic-1RCV001385636; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310374161310455-1-
NM_003001.5(SDHC):c.180-10T>C6391SDHCLikely benign2102335974RCV001391920; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310374161310374161310374-
NC_000001.10:g.(?_161310374)_(161332308_?)del6391SDHCPathogenic-1RCV001981467; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310374161332308-1-
NM_003001.5(SDHC):c.180-9T>C6391SDHCLikely benign2102335976RCV001411905; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310375161310375161310375-
NC_000001.10:g.(?_161310378)_(161332229_?)dup6391SDHCUncertain significance-1RCV000527279; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310378161332229-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.180-4A>G6391SDHCLikely benign-1RCV003109441; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310380161310380NC_000001.10:g.161310380A>G-
NM_003001.5(SDHC):c.180-3C>T6391SDHCUncertain significance1328389180RCV001806620|RCV001869485; NMedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310381161310381161310381-
NM_003001.5(SDHC):c.180-2A>G6391SDHCLikely pathogenic1363265634RCV002028731|RCV002407277|RCV003316861; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:01161310382161310382161310382-
NC_000001.10:g.(?_161310384)_(161310445_?)dup6391SDHCLikely pathogenic-1RCV000467204; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310384161310445-C1854336 605373 Paragangliomas 3;
NM_003001.5(SDHC):c.180T>C (p.Ser60=)6391SDHCUncertain significance752482067RCV001925652; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310384161310384-
NM_003001.5(SDHC):c.183del (p.Trp61fs)6391SDHCPathogenic1671684409RCV001055954; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613103861613103861:g.161310386_161310386del-
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)6391SDHCUncertain significance1571869120RCV000986018|RCV001352348|RCV002409316; NMedGen:C3661900|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111613103871613103871:g.161310387G>C-
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)6391SDHCUncertain significance-1RCV002971009; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310387161310387NC_000001.10:g.161310387G>T-
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)6391SDHCUncertain significance1558174466RCV000705384; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613103891613103891:g.161310389C>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)6391SDHCUncertain significance2102336071RCV001952335; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310391161310391161310391-
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)6391SDHCUncertain significance1571869136RCV000817983; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613103941613103941:g.161310394C>T-
NM_003001.5(SDHC):c.193A>G (p.Met65Val)6391SDHCUncertain significance1060501392RCV000467607|RCV003380572; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161310397161310397NC_000001.10:g.161310397A>GClinGen:CA16609914C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)6391SDHCUncertain significance1060501392RCV002047409; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310397161310397161310397-
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)6391SDHCUncertain significance2102336108RCV001968384; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310398161310398161310398-
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)6391SDHCUncertain significance1162090559RCV001041119; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613104001613104001:g.161310400G>A-
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)6391SDHCUncertain significance760572684RCV000410077|RCV000529986|RCV001013940|RCV003445918|RCV003475995; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:00111613104011613104011:g.161310401C>TClinGen:CA046267C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)6391SDHCUncertain significance760572684RCV000694432; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613104011613104011:g.161310401C>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)6391SDHCUncertain significance760572684RCV001242604; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613104011613104011:g.161310401C>A-
NM_003001.5(SDHC):c.198G>A (p.Ala66=)6391SDHCLikely benign763628960RCV001013965|RCV001474147; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310402161310402-
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)6391SDHCUncertain significance1287584713RCV000699006|RCV002422550; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613104041613104041:g.161310404T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)6391SDHCUncertain significance1287584713RCV001342030|RCV002419007; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161310404161310404161310404-
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)6391SDHCUncertain significance-1RCV002658470; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310405161310405NC_000001.10:g.161310405G>A-
NM_003001.5(SDHC):c.205A>G (p.Ile69Val)6391SDHCUncertain significance753561812RCV000641921|RCV002420748; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613104091613104091:g.161310409A>GClinGen:CA046402C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.210C>T (p.Cys70=)6391SDHCLikely benign2102336228RCV001414751; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310414161310414-
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)6391SDHCUncertain significance-1RCV002623060; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310415161310415NC_000001.10:g.161310415C>T-
NM_003001.5(SDHC):c.214del (p.Arg72fs)6391SDHCPathogenic2102336244RCV001953500; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310417161310417161310416-
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)6391SDHCConflicting interpretations of pathogenicity756676111RCV000809817|RCV001565641|RCV002424897; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111613104181613104181:g.161310418C>T-
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)6391SDHCConflicting interpretations of pathogenicity-1RCV002432431|RCV003098662; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310418161310418161310418-
NM_003001.5(SDHC):c.215G>A (p.Arg72His)6391SDHCConflicting interpretations of pathogenicity778582853RCV000462244|RCV001551958|RCV002429493|RCV003476035; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161310419161310419NC_000001.10:g.161310419G>AClinGen:CA046536C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.215del (p.Arg72fs)6391SDHCPathogenic1553264218RCV000641907; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613104191613104191:g.161310419_161310419delClinGen:CA658795560C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.219C>T (p.Gly73=)6391SDHCConflicting interpretations of pathogenicity752049668RCV001316222|RCV002431899; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161310423161310423-
NM_003001.5(SDHC):c.220dup (p.Thr74fs)6391SDHCPathogenic-1RCV002881906; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310423161310424NC_000001.10:g.161310424dup-
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)6391SDHCUncertain significance1060501391RCV000466497|RCV002429494|RCV003418169; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|1161310424161310424NC_000001.10:g.161310424A>GClinGen:CA16609917C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)6391SDHCUncertain significance1332910409RCV000540277|RCV002431621|RCV003105951; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661911613104251613104251:g.161310425C>TClinGen:CA343365994C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.222T>C (p.Thr74=)6391SDHCLikely benign-1RCV003040741; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310426161310426-
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)6391SDHCUncertain significance1060501389RCV000469587; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310430161310430NC_000001.10:g.161310430A>GClinGen:CA16609895C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)6391SDHCUncertain significance1060501393RCV000476570; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310434161310434NC_000001.10:g.161310434C>AClinGen:CA16609916C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.233dup (p.Leu78fs)6391SDHCPathogenic1571869304RCV001015229|RCV001382560; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613104341613104351:g.161310434_161310435insT-
NM_003001.5(SDHC):c.232T>C (p.Leu78=)6391SDHCLikely benign1553264225RCV001437985; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310436161310436-
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)6391SDHCUncertain significance-1RCV002299961; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310441161310441161310441-
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)6391SDHCUncertain significance149375851RCV000470224|RCV002451096; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161310442161310442NC_000001.10:g.161310442G>AClinGen:CA046616C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.240A>G (p.Ala80=)6391SDHCConflicting interpretations of pathogenicity1671687938RCV001918536|RCV003167112; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161310444161310444-
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp)6391SDHCUncertain significance2102336404RCV001910987; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310445161310445161310445-
NM_003001.5(SDHC):c.241+3A>G6391SDHCConflicting interpretations of pathogenicity1413662099RCV000533604|RCV002448700; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613104481613104481:g.161310448A>GClinGen:CA526862026C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.241+5dup6391SDHCUncertain significance2102336440RCV002022872; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310449161310450161310449-
NM_003001.5(SDHC):c.241+5G>A6391SDHCUncertain significance1167538377RCV000697942; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613104501613104501:g.161310450G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.241+7_241+10del6391SDHCLikely benign1571869349RCV001423445; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613104511613104541:g.161310451_161310454del-
NM_003001.5(SDHC):c.241+9_241+10del6391SDHCLikely benign1571869349RCV001504099; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310451161310452161310450-
NM_003001.5(SDHC):c.241+7A>G6391SDHCLikely benign878854586RCV000230691; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613104521613104521:g.161310452A>GClinGen:CA10581738C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.241+13_241+14del6391SDHCLikely benign2102336452RCV002159604; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310455161310456161310454-
NM_003001.5(SDHC):c.241+12T>C6391SDHCLikely benign2102336458RCV002122463; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310457161310457161310457-
NM_003001.5(SDHC):c.241+14T>C6391SDHCLikely benign2102336463RCV002198131; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310459161310459161310459-
NM_003001.5(SDHC):c.241+15T>C6391SDHCLikely benign-1RCV003060709; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310460161310460NC_000001.10:g.161310460T>C-
NM_003001.5(SDHC):c.241+17T>C6391SDHCLikely benign-1RCV003039226; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161310462161310462NC_000001.10:g.161310462T>C-
NM_003001.5(SDHC):c.241+18T>A6391SDHCLikely benign2102336473RCV002102842; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310463161310463161310463-
NM_003001.5(SDHC):c.241+20C>A6391SDHCLikely benign-1RCV003068076; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310465161310465NC_000001.10:g.161310465C>A-
NM_003001.5(SDHC):c.241+20C>G6391SDHCLikely benign-1RCV003089649; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161310465161310465NC_000001.10:g.161310465C>G-
NM_003001.5(SDHC):c.242-17C>T6391SDHCLikely benign1672283295RCV002198844; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326450161326450161326450-
NM_003001.5(SDHC):c.242-15T>C6391SDHCConflicting interpretations of pathogenicity961762320RCV002074041|RCV003238488; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C36619001161326452161326452161326452-
NM_003001.5(SDHC):c.242-13G>C6391SDHCLikely benign-1RCV003005291; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326454161326454NC_000001.10:g.161326454G>C-
NM_003001.5(SDHC):c.242-9del6391SDHCBenign/Likely benign-1RCV002466034|RCV002569349; NMedGen:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326455161326455NC_000001.10:g.161326458del-
NC_000001.11:g.(?_161356667)_(161362443_?)del6391SDHCPathogenic-1RCV000805911; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326457161332233-
NC_000001.11:g.(?_161356667)_(161356850_?)del6391SDHCPathogenic-1RCV000798825; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326457161326640-
NC_000001.11:g.(?_161356667)_(161362518_?)dup6391SDHCUncertain significance-1RCV001032021; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326457161332308-1-
NC_000001.10:g.(?_161326457)_(161332308_?)del6391SDHCPathogenic-1RCV001390572; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326457161332308-1-
NC_000001.10:g.(?_161326457)_(161326640_?)dup6391SDHCLikely pathogenic-1RCV003113181; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326457161326640-
NC_000001.10:g.(?_161326461)_(161332229_?)dup6391SDHCUncertain significance-1RCV000542153; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326461161332229-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.242-6C>T6391SDHCLikely benign1571889931RCV001407743; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613264611613264611:g.161326461C>T-
NM_003001.5(SDHC):c.242-6C>A6391SDHCUncertain significance1571889931RCV001902011; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326461161326461161326461-
NC_000001.11:g.(?_161356677)_(161356840_?)del6391SDHCPathogenic-1RCV000473701; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326467161326630-C1854336 605373 Paragangliomas 3;
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)6391SDHCUncertain significance781756162RCV001015507|RCV001860795; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613264671613264671:g.161326467G>T-
NM_003001.5(SDHC):c.243G>T (p.Gly81=)6391SDHCUncertain significance1314593051RCV000819067; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326468161326468-
NM_003001.5(SDHC):c.243G>C (p.Gly81=)6391SDHCLikely benign1314593051RCV001500244; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326468161326468-
NM_003001.5(SDHC):c.243G>A (p.Gly81=)6391SDHCLikely benign-1RCV002700091; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326468161326468-
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)6391SDHCUncertain significance570325845RCV000461822|RCV002446798; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326469161326469NC_000001.10:g.161326469G>TClinGen:CA047220C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.244G>A (p.Val82Ile)6391SDHCUncertain significance570325845RCV001365419; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326469161326469161326469-
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)6391SDHCPathogenic2102370242RCV001380966|RCV003375274; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326470161326471161326469-
NM_003001.5(SDHC):c.247dup (p.Ser83fs)6391SDHCPathogenic1672284298RCV001058295; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613264711613264721:g.161326471_161326472insT-
NM_003001.5(SDHC):c.246C>G (p.Val82=)6391SDHCLikely benign2102370246RCV001461433; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326471161326471-
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)6391SDHCUncertain significance1558182753RCV000703211; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613264721613264721:g.161326472T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)6391SDHCUncertain significance1558182753RCV000795175; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613264721613264721:g.161326472T>G-
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)6391SDHCUncertain significance1227520085RCV001913049|RCV002425208; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326473161326473161326473-
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)6391SDHCUncertain significance942160050RCV000815996; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613264751613264751:g.161326475C>G-
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)6391SDHCUncertain significance942160050RCV001370183|RCV003169897; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326475161326475161326475-
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)6391SDHCUncertain significance1672284764RCV001314473|RCV002431892; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326476161326476161326476-
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)6391SDHCUncertain significance1672284859RCV001057478|RCV002451240; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613264791613264791:g.161326479T>G-
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)6391SDHCUncertain significance1672284859RCV001953322; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326479161326479161326479-
NM_003001.5(SDHC):c.255T>C (p.Phe85=)6391SDHCLikely benign2102370353RCV002454376|RCV002199696; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326480161326480-
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)6391SDHCUncertain significance-1RCV002979130; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326482161326482NC_000001.10:g.161326482G>A-
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)6391SDHCConflicting interpretations of pathogenicity756382502RCV000810493|RCV002424899; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613264841613264841:g.161326484A>C-
NM_003001.5(SDHC):c.259A>G (p.Met87Val)6391SDHCUncertain significance756382502RCV000799859; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613264841613264841:g.161326484A>G-
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)6391SDHCUncertain significance2102370399RCV001362256; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326485161326485161326485-
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)6391SDHCUncertain significance1558182772RCV000686334; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613264861613264861:g.161326486G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)6391SDHCConflicting interpretations of pathogenicity778212096RCV000472364|RCV001016164|RCV001770320|RCV003476038; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366191161326488161326488NC_000001.10:g.161326488C>TClinGen:CA047197C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.264G>A (p.Ser88=)6391SDHCLikely benign1277488324RCV000532664|RCV001016207; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326489161326489ClinGen:CA421501010C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)6391SDHCUncertain significance771138203RCV001362863|RCV002456556|RCV003473884; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenoty1161326493161326493161326493-
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)6391SDHCUncertain significance144532303RCV000701184; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613264961613264961:g.161326496T>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)6391SDHCUncertain significance1672286186RCV001213680; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613264991613264991:g.161326499C>T-
NM_003001.5(SDHC):c.278dup (p.Gly94fs)6391SDHCPathogenic1483039185RCV001384853; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326500161326501161326500-
NM_003001.5(SDHC):c.276C>G (p.Leu92=)6391SDHCLikely benign-1RCV002815229; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326501161326501-
NM_003001.5(SDHC):c.279T>G (p.Pro93=)6391SDHCLikely benign2102370578RCV001426868; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326504161326504-
NM_003001.5(SDHC):c.282G>A (p.Gly94=)6391SDHCLikely benign536197277RCV000228379|RCV001016712; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326507161326507ClinGen:CA047161C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.282G>T (p.Gly94=)6391SDHCLikely benign536197277RCV000542990|RCV002438376; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326507161326507ClinGen:CA421501028C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)6391SDHCUncertain significance1347081665RCV001066428; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265101613265101:g.161326510C>G-
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)6391SDHCPathogenic-1RCV002899357; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326510161326511NC_000001.10:g.161326513dup-
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)6391SDHCUncertain significance-1RCV002437787|RCV003102821; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326512161326512161326512-
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)6391SDHCUncertain significance1672286669RCV001958220; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326515161326515161326515-
NM_003001.5(SDHC):c.291G>A (p.Glu97=)6391SDHCLikely benign-1RCV002667015; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326516161326516-
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)6391SDHCUncertain significance-1RCV003066229; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326516161326516NC_000001.10:g.161326516G>C-
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)6391SDHCUncertain significance371462564RCV000130580|RCV000460687|RCV000508544|RCV001557433|RCV003474766; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN169311613265171613265171:g.161326517T>GClinGen:CA011456C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.294T>C (p.Ser98=)6391SDHCLikely benign376292127RCV000641926|RCV002440288; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326519161326519ClinGen:CA421501033C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.294T>G (p.Ser98=)6391SDHCLikely benign376292127RCV000877638|RCV001200371|RCV002434163; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161326519161326519-
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)6391SDHCUncertain significance760678574RCV000231142|RCV000482240|RCV002256145|RCV003475064; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111613265201613265201:g.161326520T>CClinGen:CA047136C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys)6391SDHCUncertain significance1060501390RCV000458782; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326521161326521NC_000001.10:g.161326521A>GClinGen:CA16609900C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.297T>C (p.Tyr99=)6391SDHCLikely benign2102370693RCV001414226; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326522161326522-
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)6391SDHCUncertain significance1571890168RCV000811984; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613265261613265261:g.161326526G>A-
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)6391SDHCUncertain significance1571890177RCV000806069; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265291613265291:g.161326529C>T-
NM_003001.5(SDHC):c.307G>A (p.Val103Met)6391SDHCUncertain significance896411432RCV002041069; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326532161326532161326532-
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)6391SDHCUncertain significance-1RCV002825321; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326533161326533NC_000001.10:g.161326533T>A-
NM_003001.5(SDHC):c.309G>A (p.Val103=)6391SDHCLikely benign768273090RCV000464974|RCV002323780; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326534161326534ClinGen:CA047128C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.312G>A (p.Lys104=)6391SDHCLikely benign1395923291RCV001459566; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326537161326537-
NM_003001.5(SDHC):c.315C>G (p.Ser105=)6391SDHCLikely benign2102370802RCV001461113; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326540161326540-
NM_003001.5(SDHC):c.315C>T (p.Ser105=)6391SDHCLikely benign2102370802RCV002137205|RCV002325638; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326540161326540-
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)6391SDHCUncertain significance-1RCV002602567; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326541161326541NC_000001.10:g.161326541C>G-
NM_003001.5(SDHC):c.318G>A (p.Leu106=)6391SDHCLikely benign1166833684RCV001425611|RCV002320071; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326543161326543-
NM_003001.5(SDHC):c.322C>T (p.Leu108=)6391SDHCLikely benign2102370841RCV001451445|RCV002322490; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326547161326547-
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)6391SDHCUncertain significance1571890248RCV000806531|RCV002442693; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613265511613265511:g.161326551G>C-
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)6391SDHCUncertain significance776485432RCV000692772|RCV001766487; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C36619001161326554161326554NC_000001.10:g.161326554C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.333A>G (p.Ala111=)6391SDHCLikely benign950221552RCV000461015|RCV001020031; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326558161326558ClinGen:CA16609918C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)6391SDHCUncertain significance1329297940RCV000821130; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613265591613265591:g.161326559C>G-
NM_003001.5(SDHC):c.334C>T (p.Leu112=)6391SDHCLikely benign1329297940RCV001409798; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326559161326559-
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)6391SDHCUncertain significance1558182863RCV000696379; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326562161326562NC_000001.10:g.161326562A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.339C>T (p.Ile113=)6391SDHCLikely benign1047677628RCV001020195|RCV001484292; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326564161326564-
NM_003001.5(SDHC):c.342C>T (p.His114=)6391SDHCBenign/Likely benign143730978RCV000506595|RCV000759343|RCV000573820|RCV001079355; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6061161326567161326567ClinGen:CA047111
NM_003001.5(SDHC):c.345A>G (p.Thr115=)6391SDHCLikely benign2102371010RCV001447338|RCV002456753; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326570161326570-
NM_003001.5(SDHC):c.349_350del (p.Lys117fs)6391SDHCPathogenic1672291512RCV001202377; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613265741613265751:g.161326574_161326575del-
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)6391SDHCUncertain significance1571890337RCV000994159|RCV002549853; NMedGen:C3661900|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265751613265751:g.161326575A>G-
NM_003001.5(SDHC):c.351G>A (p.Lys117=)6391SDHCLikely benign1571890344RCV000876146|RCV002454039; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326576161326576-
NM_003001.5(SDHC):c.354T>C (p.Phe118=)6391SDHCBenign/Likely benign61733156RCV000151829|RCV000162606|RCV000589493|RCV001079839|RCV003315940; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6061161326579161326579ClinGen:CA011442
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)6391SDHCUncertain significance-1RCV002953932|RCV003170719; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326581161326581NC_000001.10:g.161326581C>T-
NM_003001.5(SDHC):c.357A>G (p.Ala119=)6391SDHCLikely benign2102371098RCV002135709; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326582161326582-
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)6391SDHCUncertain significance1161002093RCV000641922|RCV002256432; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613265831613265831:g.161326583C>TClinGen:CA343456612C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)6391SDHCUncertain significance1672292051RCV001321576|RCV003166865; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326584161326584161326584-
NM_003001.5(SDHC):c.360T>C (p.Leu120=)6391SDHCLikely benign2102371131RCV002149187; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326585161326585-
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)6391SDHCUncertain significance-1RCV002995307|RCV003308395; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326587161326587NC_000001.10:g.161326587T>C-
NM_003001.5(SDHC):c.363C>T (p.Val121=)6391SDHCLikely benign1273832397RCV002086685|RCV002454498; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326588161326588-
NM_003001.5(SDHC):c.363C>A (p.Val121=)6391SDHCLikely benign-1RCV002917980; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326588161326588-
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)6391SDHCUncertain significance1553265808RCV000641912; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265891613265891:g.161326589T>CClinGen:CA343456631C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)6391SDHCUncertain significance1553265808RCV001065186; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265891613265891:g.161326589T>G-
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)6391SDHCUncertain significance868596979RCV001245284; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265911613265911:g.161326591C>G-
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)6391SDHCUncertain significance773039986RCV001043735|RCV001759753|RCV002451169|RCV003473629; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111613265921613265921:g.161326592C>T-
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)6391SDHCUncertain significance773039986RCV001343067; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326592161326592161326592-
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)6391SDHCUncertain significance1571890413RCV000814325; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613265931613265931:g.161326593C>T-
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)6391SDHCUncertain significance1571890420RCV000818867|RCV002345883; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613265951613265951:g.161326595C>G-
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)6391SDHCUncertain significance1571890420RCV001038823|RCV002348340; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613265951613265951:g.161326595C>T-
NM_003001.5(SDHC):c.372C>T (p.Leu124=)6391SDHCLikely benign766007157RCV000536279|RCV001020989; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326597161326597ClinGen:CA047069C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.372C>A (p.Leu124=)6391SDHCConflicting interpretations of pathogenicity766007157RCV000936784|RCV001020985|RCV001450268; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4481161326597161326597-
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)6391SDHCPathogenic1553265817RCV000569757|RCV001386659; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613265981613266131:g.161326598_161326613delClinGen:CA658656975C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.373A>G (p.Met125Val)6391SDHCUncertain significance771059368RCV001982704; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326598161326598161326598-
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)6391SDHCPathogenic1060501387RCV000460952|RCV002348304; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326599161326599NC_000001.10:g.161326599T>GClinGen:CA16609904C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)6391SDHCUncertain significance1060501387RCV000471316; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326599161326599NC_000001.10:g.161326599T>CClinGen:CA16609919C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)6391SDHCPathogenic1485675090RCV001036663|RCV002354978; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613266041613266041:g.161326604C>T-
NM_003001.5(SDHC):c.379C>A (p.His127Asn)6391SDHCConflicting interpretations of pathogenicity1485675090RCV001217901|RCV001751410; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C366190011613266041613266041:g.161326604C>A-
NM_003001.5(SDHC):c.379C>G (p.His127Asp)6391SDHCConflicting interpretations of pathogenicity1485675090RCV002223159|RCV002352956|RCV003101258; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D1161326604161326604161326604-
NM_003001.5(SDHC):c.380A>G (p.His127Arg)6391SDHCPathogenic/Likely pathogenic786203457RCV000166772|RCV000478217|RCV000641906|RCV001523820; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29011613266051613266051:g.161326605A>GClinGen:CA011435C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.381T>C (p.His127=)6391SDHCLikely benign867566924RCV001421366|RCV003160688; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326606161326606-
NM_003001.5(SDHC):c.384C>T (p.Thr128=)6391SDHCLikely benign1553265821RCV000573492|RCV001468401; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326609161326609ClinGen:CA421501104C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg)6391SDHCUncertain significance541278701RCV001930460; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326610161326610161326610-
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)6391SDHCPathogenic1672294906RCV001257556|RCV001256199|RCV001879958; NHuman Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412, Orphanet:780|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:011613266111613266111:g.161326611G>A-
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)6391SDHCUncertain significance981049067RCV000477028|RCV001770321; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C36619001161326612161326612NC_000001.10:g.161326612G>CClinGen:CA16609905C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)6391SDHCPathogenic/Likely pathogenic981049067RCV000492239|RCV000986019|RCV001380749|RCV003476183; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29011613266121613266121:g.161326612G>AClinGen:CA31433613C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.390T>C (p.Asn130=)6391SDHCLikely benign2102371399RCV002080934|RCV002372886; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161326615161326615-
NM_003001.5(SDHC):c.394A>G (p.Ile132Val)6391SDHCUncertain significance2102371416RCV001944308; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326619161326619161326619-
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)6391SDHCPathogenic764575966RCV000162467|RCV000232178|RCV000315495|RCV000505285|RCV000660260|RCV001329019|RCV002505199|RCV003474842; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:C3661911613266221613266221:g.161326622C>TClinGen:CA011426C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)6391SDHCUncertain significance386833414RCV000034694|RCV000797358|RCV003473255; NMedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D11613266231613266231:g.161326623G>AClinGen:CA011418CN517202 not provided;
NM_003001.5(SDHC):c.402C>T (p.His134=)6391SDHCLikely benign754213041RCV000167459|RCV001477241; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326627161326627ClinGen:CA011411
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)6391SDHCUncertain significance1455783076RCV000641923|RCV003472033; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C011613266281613266281:g.161326628T>AClinGen:CA343456771C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.405+1del6391SDHCLikely pathogenic1558182956RCV000691372; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613266301613266301:g.161326630_161326630del-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)6391SDHCUncertain significance757663926RCV001202012; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613266301613266301:g.161326630G>T-
NM_003001.5(SDHC):c.405+1G>T6391SDHCPathogenic587776653RCV000007664|RCV000574152|RCV000681938|RCV000641917; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MOND11613266311613266311:g.161326631G>TClinGen:CA011403,OMIM:602413.0002C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.405+1G>C6391SDHCPathogenic587776653RCV000492714|RCV000641918; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326631161326631NC_000001.10:g.161326631G>CClinGen:CA343456782C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.405+7T>A6391SDHCLikely benign-1RCV002872072; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326637161326637NC_000001.10:g.161326637T>A-
NM_003001.5(SDHC):c.405+11T>G6391SDHCLikely benign2102371559RCV002142569; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326641161326641161326641-
NM_003001.5(SDHC):c.405+12C>T6391SDHCLikely benign575479448RCV002176737; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326642161326642161326642-
NM_003001.5(SDHC):c.405+12C>A6391SDHCLikely benign-1RCV003100481; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326642161326642NC_000001.10:g.161326642C>A-
NM_003001.5(SDHC):c.405+13G>A6391SDHCBenign/Likely benign369274171RCV000610382|RCV001860314|RCV002255474|RCV003117404|RCV002498941; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140111613266431613266431:g.161326643G>AClinGen:CA046986CN169374 not specified;
NM_003001.5(SDHC):c.405+13G>T6391SDHCLikely benign-1RCV002838153; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326643161326643NC_000001.10:g.161326643G>T-
NM_003001.5(SDHC):c.405+15G>A6391SDHCLikely benign768628609RCV002167710; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161326645161326645161326645-
NM_003001.5(SDHC):c.405+16A>C6391SDHCLikely benign2102371614RCV002109652; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326646161326646161326646-
NM_003001.5(SDHC):c.405+18T>C6391SDHCLikely benign-1RCV002852962; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161326648161326648NC_000001.10:g.161326648T>C-
NM_003001.5(SDHC):c.405+23C>T6391SDHCConflicting interpretations of pathogenicity373731336RCV000225956|RCV000454948|RCV000663302|RCV001589184|RCV002257547; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613266531613266531:g.161326653C>TClinGen:CA046964C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.406-10T>G6391SDHCLikely benign1060504225RCV001450601; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332109161332109NC_000001.10:g.161332109T>GClinGen:CA16609923C0238198 606764 Gastrointestinal stroma tumor;
NC_000001.10:g.(?_161332109)_(161332308_?)dup6391SDHCUncertain significance-1RCV001343954; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332109161332308-1-
NC_000001.10:g.(?_161332109)_(161332308_?)del6391SDHCPathogenic-1RCV001390571; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332109161332308-1-
NM_003001.5(SDHC):c.406-10T>C6391SDHCLikely benign1060504225RCV001415433; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332109161332109161332109-
NM_003001.5(SDHC):c.406-8G>T6391SDHCBenign/Likely benign747093483RCV000460764|RCV001000446; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN16937411613321111613321111:g.161332111G>TClinGen:CA047318C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.406-8G>A6391SDHCLikely benign747093483RCV001448492; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332111161332111161332111-
NM_003001.5(SDHC):c.406-7T>C6391SDHCLikely benign1672546572RCV002208944; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332112161332112161332112-
NM_003001.5(SDHC):c.406-6C>G6391SDHCUncertain significance1337338303RCV000700438; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613321131613321131:g.161332113C>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.406-5C>T6391SDHCConflicting interpretations of pathogenicity1442391429RCV001021790|RCV002067643; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613321141613321141:g.161332114C>T-
NM_003001.5(SDHC):c.406-3C>T6391SDHCUncertain significance372490900RCV000556917|RCV001021784; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613321161613321161:g.161332116C>TClinGen:CA658656976C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.406-2A>C6391SDHCUncertain significance-1RCV003043796; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332117161332117NC_000001.10:g.161332117A>C-
NM_003001.5(SDHC):c.406-1G>A6391SDHCLikely pathogenic-1RCV003316923; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332118161332118-
NM_003001.5(SDHC):c.406A>C (p.Met136Leu)6391SDHCUncertain significance1486341484RCV001233276; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613321191613321191:g.161332119A>C-
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)6391SDHCUncertain significance890210469RCV001960396; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332122161332122161332122-
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)6391SDHCUncertain significance1060501385RCV000476432; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332123161332123NC_000001.10:g.161332123G>TClinGen:CA16609906C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.420A>G (p.Gly140=)6391SDHCConflicting interpretations of pathogenicity794727791RCV000179415|RCV000724433|RCV001088510|RCV002326977; NMedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C002761161332133161332133ClinGen:CA011462C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)6391SDHCUncertain significance1558185879RCV000691205|RCV002332428|RCV002510957; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661911613321351613321351:g.161332135A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)6391SDHCConflicting interpretations of pathogenicity1672548902RCV001047447|RCV003455196; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613321351613321361:g.161332135_161332136insT-
NM_003001.5(SDHC):c.423A>G (p.Lys141=)6391SDHCConflicting interpretations of pathogenicity2102385065RCV001441045|RCV002329495; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332136161332136-
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)6391SDHCUncertain significance2102385085RCV001960298; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332137161332137161332137-
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr)6391SDHCUncertain significance876659889RCV000216420|RCV001294622|RCV003475025; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenoty11613321441613321441:g.161332144A>CClinGen:CA10577667C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)6391SDHCUncertain significance1366410028RCV000528674|RCV003476280; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C011613321451613321451:g.161332145G>TClinGen:CA343457654C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)6391SDHCUncertain significance1553266487RCV000569117|RCV000641910; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613321471613321471:g.161332147T>CClinGen:CA343457669C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)6391SDHCUncertain significance-1RCV002332346|RCV003094659; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332148161332148161332148-
NM_003001.5(SDHC):c.435T>A (p.Ile145=)6391SDHCLikely benign-1RCV002875583; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332148161332148-
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)6391SDHCUncertain significance541660851RCV000132372|RCV000534423|RCV002254682|RCV002483272|RCV003474790; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:011613321491613321491:g.161332149C>AClinGen:CA016343C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.438C>A (p.Pro146=)6391SDHCLikely benign1418513098RCV002151142|RCV002331815; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332151161332151-
NM_003001.5(SDHC):c.444A>C (p.Leu148=)6391SDHCLikely benign377230417RCV000878076|RCV001084939|RCV002332849; NMedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161332157161332157-
NM_003001.5(SDHC):c.444A>G (p.Leu148=)6391SDHCLikely benign377230417RCV001399429; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332157161332157-
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)6391SDHCUncertain significance2102385345RCV001369437|RCV002329383; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332158161332158161332158-
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)6391SDHCUncertain significance773142195RCV001879733; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332161161332161161332161-
NM_003001.5(SDHC):c.450G>A (p.Gln150=)6391SDHCConflicting interpretations of pathogenicity749159544RCV000872176|RCV001022609|RCV003411858|RCV003227874; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MedGen:C36611161332163161332163-
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)6391SDHCUncertain significance1558185927RCV000693159|RCV002334302; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332164161332164NC_000001.10:g.161332164T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)6391SDHCConflicting interpretations of pathogenicity1571899020RCV001022642|RCV001862225; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613321651613321651:g.161332165C>A-
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)6391SDHCUncertain significance-1RCV002340037|RCV003102596; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332165161332165161332165-
NM_003001.5(SDHC):c.453T>C (p.Ser151=)6391SDHCLikely benign2102385466RCV002097551; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332166161332166-
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)6391SDHCUncertain significance1558185932RCV000694289|RCV002332445; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332167161332167NC_000001.10:g.161332167G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)6391SDHCUncertain significance1060501386RCV000462009; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332168161332168NC_000001.10:g.161332168G>TClinGen:CA16609925C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)6391SDHCConflicting interpretations of pathogenicity1060501386RCV001022697|RCV001862227; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613321681613321681:g.161332168G>A-
NM_003001.5(SDHC):c.456A>C (p.Gly152=)6391SDHCLikely benign886251473RCV002207016|RCV002337227; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332169161332169-
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)6391SDHCUncertain significance-1RCV002303941; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332170161332170161332170-
NM_003001.5(SDHC):c.457G>A (p.Val153Met)6391SDHCUncertain significance-1RCV003073322|RCV003324863|RCV003294489; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14011161332170161332170NC_000001.10:g.161332170G>A-
NM_003001.5(SDHC):c.460del (p.Val154fs)6391SDHCUncertain significance786201665RCV000164065|RCV001850290; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613321721613321721:g.161332172_161332172delClinGen:CA016362C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)6391SDHCUncertain significance-1RCV002342446|RCV003094789; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332173161332173161332173-
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)6391SDHCConflicting interpretations of pathogenicity1378160712RCV000641908|RCV002334116; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613321741613321741:g.161332174T>CClinGen:CA343457806C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.462T>C (p.Val154=)6391SDHCLikely benign2102385569RCV001486926|RCV003160967; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332175161332175-
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)6391SDHCUncertain significance1672552536RCV001050805|RCV002327303; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613321771613321771:g.161332177T>C-
NM_003001.5(SDHC):c.465C>G (p.Val155=)6391SDHCLikely benign1060504223RCV001483274; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332178161332178ClinGen:CA16609922
NM_003001.5(SDHC):c.466C>T (p.Leu156=)6391SDHCLikely benign1553266500RCV000549351; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332179161332179ClinGen:CA343457831C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)6391SDHCUncertain significance-1RCV002335284|RCV003102617; 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332182161332182161332182-
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)6391SDHCUncertain significance-1RCV003041801; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332185161332188NC_000001.10:g.161332187_161332190del-
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)6391SDHCUncertain significance-1RCV002466815|RCV002571402; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332186161332186NC_000001.10:g.161332186T>C-
NM_003001.5(SDHC):c.474T>G (p.Leu158=)6391SDHCLikely benign2102385657RCV002197895; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332187161332187-
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)6391SDHCUncertain significance2102385668RCV001895358; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332188161332188161332188-
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)6391SDHCUncertain significance773923942RCV000694799|RCV002334309; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332189161332189NC_000001.10:g.161332189C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.477T>C (p.Thr159=)6391SDHCLikely benign759055559RCV001023032|RCV001460097; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332190161332190-
NM_003001.5(SDHC):c.477T>A (p.Thr159=)6391SDHCConflicting interpretations of pathogenicity759055559RCV001371887|RCV002329394; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332190161332190-
NM_003001.5(SDHC):c.478G>A (p.Val160Met)6391SDHCUncertain significance1553266502RCV000527739|RCV002341335; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332191161332191NC_000001.10:g.161332191G>AClinGen:CA343457881C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)6391SDHCUncertain significance1553266504RCV000561621|RCV001325105; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613321981613321981:g.161332198C>GClinGen:CA343457916C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)6391SDHCUncertain significance1553266504RCV001305405; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332198161332198161332198-
NM_003001.5(SDHC):c.486C>T (p.Ser162=)6391SDHCLikely benign2102385816RCV001400318|RCV002341858; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332199161332199-
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)6391SDHCUncertain significance1553266506RCV000566644|RCV001206983; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613322001613322001:g.161332200T>CClinGen:CA343457924C0027672 Hereditary cancer-predisposing syndrome;
NM_003001.5(SDHC):c.489T>C (p.Ser163=)6391SDHCBenign/Likely benign559747670RCV000355295|RCV000828442|RCV001078649|RCV002338872; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:C3661900|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO1161332202161332202ClinGen:CA047553C0031511 171300 Pheochromocytoma;
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)6391SDHCConflicting interpretations of pathogenicity200375156RCV000163312|RCV000226413|RCV000454468|RCV001095934|RCV001083551|RCV001269363|RCV003153438; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:11613322031613322031:g.161332203A>TClinGen:CA016373C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.490A>G (p.Met164Val)6391SDHCConflicting interpretations of pathogenicity200375156RCV000691008|RCV001023247; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613322031613322031:g.161332203A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)6391SDHCUncertain significance-1RCV002608832; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332204161332204NC_000001.10:g.161332204T>C-
NM_003001.5(SDHC):c.495G>A (p.Gly165=)6391SDHCLikely benign2102385878RCV001416733|RCV003298696; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332208161332208-
NM_003001.5(SDHC):c.495G>T (p.Gly165=)6391SDHCLikely benign2102385878RCV002108599; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161332208161332208-
NM_003001.5(SDHC):c.496C>T (p.Leu166=)6391SDHCLikely benign2102385898RCV001456076|RCV002350919; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332209161332209-
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)6391SDHCConflicting interpretations of pathogenicity1571899223RCV000823450|RCV002345910; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613322101613322101:g.161332210T>G-
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)6391SDHCUncertain significance1672554961RCV001225080|RCV003294076; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211613322151613322151:g.161332215G>A-
NM_003001.5(SDHC):c.504C>T (p.Ala168=)6391SDHCLikely benign1571899229RCV001496773|RCV003307776; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621161332217161332217-
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)6391SDHCUncertain significance1571899249RCV000800585; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448901161332218161332220NC_000001.10:g.161332218_161332220delinsTTT-
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)6391SDHCUncertain significance1672555380RCV001064449; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489011613322211613322211:g.161332221T>C-
NM_003001.5(SDHC):c.*20T>G6391SDHCUncertain significance587778662RCV000122005|RCV000410848; NMedGen:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:2907211613322431613322431:g.161332243T>GClinGen:CA011468CN169374 not specified;
NM_003001.5(SDHC):c.*84G>C6391SDHCConflicting interpretations of pathogenicity201210474RCV000034692|RCV000122004|RCV000203076|RCV000211525|RCV001093726|RCV001522524|RCV002256015; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MO11613323071613323071:g.161332307G>CClinGen:CA011488CN517202 not provided;
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA6391SDHCPathogenic-1RCV000007665; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:290721161336986161339990NC_000001.10:g.161336986_161339990delinsGTCAOMIM:602413.0003C1854336 605373 Paragangliomas 3;
NC_000001.10:g.(?_130980840)_(248900000_?)dup-1subset of 958 genes: AKT3:ASH1L:CDC73:CHRM3:FH:FLGUncertain significance-1RCV001300221|RCV001341077; NMONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:61130980840248900000-1-
MSeqDR Portal