|
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 : Genes: SDHC; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000001.10:g.(?_160786670)_(161332233_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000792787; | N | 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 | 1 | 160786670 | 161332233 | | | | - | | | NC_000001.11:g.(?_160816880)_(161362518_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001031279; | N | 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 | 1 | 160786670 | 161332308 | | | -1 | - | | | NC_000001.11:g.(?_161314368)_(161328507_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001033516; | N | 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 | 1 | 161284158 | 161298297 | | | -1 | - | | | NC_000001.11:g.(?_161314368)_(161362518_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001032436; | N | 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 | 1 | 161284158 | 161332308 | | | -1 | - | | | NC_000001.11:g.(?_161314368)_(161362518_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001032001; | N | 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 | 1 | 161284158 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161284158)_(161284225_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001900565; | N | 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 | 1 | 161284158 | 161284225 | | | -1 | - | | | NC_000001.10:g.(?_161284158)_(161284225_?)del | 6391 | SDHC | Pathogenic | -1 | RCV003113182; | N | 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 | 1 | 161284158 | 161284225 | | | | - | | | NM_003001.5(SDHC):c.-32T>C | 6391 | SDHC | Benign | 115782155 | RCV000293942|RCV000444699|RCV001810872|RCV003316509; | N | Human 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:29072 | 1 | 161284164 | 161284164 | | | 1:g.161284164T>C | ClinGen:CA089450 | CN169374 not specified; | | NC_000001.10:g.(?_161284186)_(161332233_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000707786; | N | 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 | 1 | 161284186 | 161332233 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NC_000001.11:g.(?_161314396)_(161340665_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001031931; | N | 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 | 1 | 161284186 | 161310455 | | | -1 | - | | | NC_000001.10:g.(?_161284190)_(161332229_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000533978; | N | 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 | 1 | 161284190 | 161332229 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NC_000001.11:g.(?_161314400)_(161362439_?)del | 6391 | SDHC | Pathogenic | -1 | RCV000641928; | N | 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 | 1 | 161284190 | 161332229 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.1A>G (p.Met1Val) | 6391 | SDHC | Pathogenic | 755235380 | RCV000467345|RCV000492170|RCV000791400|RCV001559453; | N | MONDO: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:0 | 1 | 161284196 | 161284196 | | | NC_000001.10:g.161284196A>G | ClinGen:CA046289 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.1A>T (p.Met1Leu) | 6391 | SDHC | Pathogenic | 755235380 | RCV000809572; | N | 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 | 1 | 161284196 | 161284196 | | | 1:g.161284196A>T | - | | | NM_003001.5(SDHC):c.1A>C (p.Met1Leu) | 6391 | SDHC | Pathogenic | -1 | RCV002933132; | N | 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 | 1 | 161284196 | 161284196 | | | NC_000001.10:g.161284196A>C | - | | | NM_003001.5(SDHC):c.2T>G (p.Met1Arg) | 6391 | SDHC | Likely pathogenic | 1670517782 | RCV001244070; | N | 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 | 1 | 161284197 | 161284197 | | | 1:g.161284197T>G | - | | | NM_003001.5(SDHC):c.3G>A (p.Met1Ile) | 6391 | SDHC | Pathogenic | 587776652 | RCV000007663|RCV000812224; | N | MONDO: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 | 1 | 161284198 | 161284198 | | | 1:g.161284198G>A | ClinGen:CA016312,OMIM:602413.0001 | C1854336 605373 Paragangliomas 3; | | NM_003001.5(SDHC):c.4G>A (p.Ala2Thr) | 6391 | SDHC | Uncertain significance | 1198315342 | RCV000542616|RCV003159828|RCV003476281; | N | 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:140162|Human Phenoty | 1 | 161284199 | 161284199 | | | 1:g.161284199G>A | ClinGen:CA343354908 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.4G>C (p.Ala2Pro) | 6391 | SDHC | Uncertain significance | 1198315342 | RCV001056965; | N | 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 | 1 | 161284199 | 161284199 | | | 1:g.161284199G>C | - | | | NM_003001.5(SDHC):c.5C>G (p.Ala2Gly) | 6391 | SDHC | Uncertain significance | 781337432 | RCV000821924|RCV003307554; | N | 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:140162 | 1 | 161284200 | 161284200 | | | 1:g.161284200C>G | - | | | NM_003001.5(SDHC):c.6T>C (p.Ala2=) | 6391 | SDHC | Likely benign | 775353334 | RCV000206464|RCV001025908; | N | 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:140162 | 1 | 161284201 | 161284201 | | | | ClinGen:CA350492 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.6T>G (p.Ala2=) | 6391 | SDHC | Likely benign | 775353334 | RCV002205624|RCV002361471; | N | 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:140162 | 1 | 161284201 | 161284201 | | | | - | | | NM_003001.5(SDHC):c.7G>T (p.Ala3Ser) | 6391 | SDHC | Uncertain significance | 748243732 | RCV000472430|RCV001027045|RCV002481414|RCV003233639; | N | 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:140162|Human Phenoty | 1 | 161284202 | 161284202 | | | NC_000001.10:g.161284202G>T | ClinGen:CA048618 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.7G>A (p.Ala3Thr) | 6391 | SDHC | Uncertain significance | 748243732 | RCV000462901|RCV002418367|RCV003153608|RCV003476039; | N | 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:140162|MedGen:C36619 | 1 | 161284202 | 161284202 | | | NC_000001.10:g.161284202G>A | ClinGen:CA048607 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.8C>T (p.Ala3Val) | 6391 | SDHC | Uncertain significance | 142139022 | RCV000148872|RCV000471140|RCV000563869|RCV002464125|RCV002465536; | N | Human 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:6 | 1 | 161284203 | 161284203 | | | 1:g.161284203C>T | ClinGen:CA011497 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.8C>A (p.Ala3Glu) | 6391 | SDHC | Uncertain significance | 142139022 | RCV001222737|RCV002256707; | N | 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:140162 | 1 | 161284203 | 161284203 | | | 1:g.161284203C>A | - | | | NM_003001.5(SDHC):c.9G>A (p.Ala3=) | 6391 | SDHC | Likely benign | 749265569 | RCV000863201|RCV001019973|RCV001811513|RCV003117626; | N | 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:140162|MedGen:C36619 | 1 | 161284204 | 161284204 | | | | - | | | NM_003001.5(SDHC):c.10C>G (p.Leu4Val) | 6391 | SDHC | Uncertain significance | 770796603 | RCV000641905; | N | 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 | 1 | 161284205 | 161284205 | | | 1:g.161284205C>G | ClinGen:CA343354959 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) | 6391 | SDHC | Uncertain significance | 774299337 | RCV000411462|RCV000547937|RCV000759341|RCV002348125|RCV003475993; | N | MONDO: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:C3661900 | 1 | 161284206 | 161284206 | | | 1:g.161284206T>C | ClinGen:CA045713 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.11T>G (p.Leu4Arg) | 6391 | SDHC | Uncertain significance | 774299337 | RCV001241983; | N | 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 | 1 | 161284206 | 161284206 | | | 1:g.161284206T>G | - | | | NM_003001.5(SDHC):c.11T>A (p.Leu4Gln) | 6391 | SDHC | Uncertain significance | -1 | RCV002295767; | N | 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 | 1 | 161284206 | 161284206 | | | 161284206 | - | | | NM_003001.5(SDHC):c.12G>T (p.Leu4=) | 6391 | SDHC | Likely benign | 745443094 | RCV001284703|RCV001446166|RCV002379975; | N | 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:C0027672, Orphanet:1401 | 1 | 161284207 | 161284207 | | | | - | | | NM_003001.5(SDHC):c.12G>A (p.Leu4=) | 6391 | SDHC | Likely benign | 745443094 | RCV001946643; | N | 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 | 1 | 161284207 | 161284207 | | | | - | | | NM_003001.5(SDHC):c.13T>A (p.Leu5Met) | 6391 | SDHC | Uncertain significance | 894925936 | RCV000821325|RCV001011373|RCV001284704|RCV003473514; | N | 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:140162|MedGen:C36619 | 1 | 161284208 | 161284208 | | | 1:g.161284208T>A | - | | | NM_003001.5(SDHC):c.14T>C (p.Leu5Ser) | 6391 | SDHC | Uncertain significance | 1277411736 | RCV000700226|RCV001597205|RCV002388305; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161284209 | 161284209 | | | NC_000001.10:g.161284209T>C | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.16C>G (p.Leu6Val) | 6391 | SDHC | Uncertain significance | 1325823872 | RCV001216251; | N | 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 | 1 | 161284211 | 161284211 | | | 1:g.161284211C>G | - | | | NM_003001.5(SDHC):c.17T>C (p.Leu6Pro) | 6391 | SDHC | Uncertain significance | 1211574644 | RCV001060877; | N | 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 | 1 | 161284212 | 161284212 | | | 1:g.161284212T>C | - | | | NM_003001.5(SDHC):c.18G>C (p.Leu6=) | 6391 | SDHC | Likely benign | 1571828901 | RCV000976922; | N | 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 | 1 | 161284213 | 161284213 | | | | - | | | NM_003001.5(SDHC):c.19A>C (p.Arg7=) | 6391 | SDHC | Uncertain significance | 1670521233 | RCV001061790; | N | 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 | 1 | 161284214 | 161284214 | | | | - | | | NM_003001.5(SDHC):c.20G>A (p.Arg7Lys) | 6391 | SDHC | Uncertain significance | 2102271857 | RCV002044863; | N | 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 | 1 | 161284215 | 161284215 | | | 161284215 | - | | | NM_003001.5(SDHC):c.20+1G>T | 6391 | SDHC | Likely pathogenic | 1249046874 | RCV001378182; | N | 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 | 1 | 161284216 | 161284216 | | | 161284216 | - | | | NM_003001.5(SDHC):c.20+3G>A | 6391 | SDHC | Uncertain significance | 377566366 | RCV000465673; | N | 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 | 1 | 161284218 | 161284218 | | | NC_000001.10:g.161284218G>A | ClinGen:CA046376 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.20+3G>C | 6391 | SDHC | Uncertain significance | 377566366 | RCV001313116; | N | 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 | 1 | 161284218 | 161284218 | | | 161284218 | - | | | NM_003001.5(SDHC):c.20+4del | 6391 | SDHC | Uncertain significance | 2102271885 | RCV001911942|RCV002422945; | N | 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:140162 | 1 | 161284219 | 161284219 | | | 161284218 | - | | | NM_003001.5(SDHC):c.20+4A>G | 6391 | SDHC | Uncertain significance | -1 | RCV003053590; | N | 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 | 1 | 161284219 | 161284219 | | | NC_000001.10:g.161284219A>G | - | | | NM_003001.5(SDHC):c.20+5C>T | 6391 | SDHC | Uncertain significance | 760206414 | RCV001230036; | N | 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 | 1 | 161284220 | 161284220 | | | 1:g.161284220C>T | - | | | NM_003001.5(SDHC):c.20+6T>G | 6391 | SDHC | Uncertain significance | 1013252106 | RCV001206867|RCV003473752; | N | 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:D046152,MedGen:C0 | 1 | 161284221 | 161284221 | | | 1:g.161284221T>G | - | | | NM_003001.5(SDHC):c.20+6T>A | 6391 | SDHC | Uncertain significance | -1 | RCV003086312; | N | 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 | 1 | 161284221 | 161284221 | | | NC_000001.10:g.161284221T>A | - | | | NM_003001.5(SDHC):c.20+7T>G | 6391 | SDHC | Likely benign | 1553260599 | RCV000641924; | N | 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 | 1 | 161284222 | 161284222 | | | 1:g.161284222T>G | ClinGen:CA658795558 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.20+8C>A | 6391 | SDHC | Likely benign | 773661299 | RCV000983249; | N | 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 | 1 | 161284223 | 161284223 | | | 1:g.161284223C>A | - | | | NM_003001.5(SDHC):c.20+8C>T | 6391 | SDHC | Likely benign | 773661299 | RCV001491660; | N | 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 | 1 | 161284223 | 161284223 | | | 161284223 | - | | | NM_003001.5(SDHC):c.20+9A>C | 6391 | SDHC | Likely benign | 1271741954 | RCV001412789; | N | 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 | 1 | 161284224 | 161284224 | | | 161284224 | - | | | NM_003001.5(SDHC):c.20+10_20+11insCG | 6391 | SDHC | Likely benign | 2102271943 | RCV001486012; | N | 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 | 1 | 161284224 | 161284225 | | | 161284224 | - | | | NM_003001.5(SDHC):c.20+9A>G | 6391 | SDHC | Likely benign | -1 | RCV002847808; | N | 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 | 1 | 161284224 | 161284224 | | | NC_000001.10:g.161284224A>G | - | | | NM_003001.5(SDHC):c.20+10G>A | 6391 | SDHC | Likely benign | 1060504224 | RCV000473036; | N | 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 | 1 | 161284225 | 161284225 | | | NC_000001.10:g.161284225G>A | ClinGen:CA16609908 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.20+12_20+13insTA | 6391 | SDHC | Likely benign | 1403146281 | RCV000608623|RCV002064062; | N | MedGen: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 | 1 | 161284227 | 161284228 | | | NC_000001.10:g.161284227_161284228insTA | ClinGen:CA526856681 | CN169374 not specified; | | NM_003001.5(SDHC):c.20+12G>C | 6391 | SDHC | Likely benign | 1014189365 | RCV002107222; | N | 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 | 1 | 161284227 | 161284227 | | | 161284227 | - | | | NM_003001.5(SDHC):c.20+14G>T | 6391 | SDHC | Uncertain significance | 2102272018 | RCV001902687; | N | 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 | 1 | 161284229 | 161284229 | | | 161284229 | - | | | NM_003001.5(SDHC):c.20+16C>A | 6391 | SDHC | Likely benign | 2102272025 | RCV002202943; | N | 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 | 1 | 161284231 | 161284231 | | | 161284231 | - | | | NM_003001.5(SDHC):c.20+17T>A | 6391 | SDHC | Likely benign | 2102272030 | RCV002103421; | N | 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 | 1 | 161284232 | 161284232 | | | 161284232 | - | | | NM_003001.5(SDHC):c.20+18G>A | 6391 | SDHC | Likely benign | 2102272035 | RCV002081375; | N | 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 | 1 | 161284233 | 161284233 | | | 161284233 | - | | | NM_003001.5(SDHC):c.20+20G>T | 6391 | SDHC | Likely benign | 763464678 | RCV001919192; | N | 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 | 1 | 161284235 | 161284235 | | | 161284235 | - | | | NM_003001.5(SDHC):c.20+22G>C | 6391 | SDHC | Likely benign | 182261879 | RCV000411310|RCV002268040; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:CN169374 | 1 | 161284237 | 161284237 | | | NC_000001.10:g.161284237G>C | ClinGen:CA046318 | C1854336 605373 Paragangliomas 3; | | NM_003001.5(SDHC):c.20+98C>T | 6391 | SDHC | Uncertain significance | -1 | RCV002795515; | N | 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 | 1 | 161284313 | 161284313 | | | NC_000001.10:g.161284313C>T | - | | | NM_003001.5(SDHC):c.20+4066C>G | 6391 | SDHC | Uncertain significance | -1 | RCV002904479; | N | 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 | 1 | 161288281 | 161288281 | | | NC_000001.10:g.161288281C>G | - | | | NC_000001.10:g.(?_161293394)_(161332233_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000823240; | N | 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 | 1 | 161293394 | 161332233 | | | | - | | | NM_003001.5(SDHC):c.21-10T>C | 6391 | SDHC | Likely benign | 771805280 | RCV001456008; | N | 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 | 1 | 161293394 | 161293394 | | | 1:g.161293394T>C | - | | | NC_000001.11:g.(?_161323604)_(161328507_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001031710; | N | 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 | 1 | 161293394 | 161298297 | | | -1 | - | | | NC_000001.11:g.(?_161323604)_(161362518_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001033291; | N | 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 | 1 | 161293394 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161293394)_(161293470_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001343953; | N | 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 | 1 | 161293394 | 161293470 | | | -1 | - | | | NM_003001.5(SDHC):c.21-9A>G | 6391 | SDHC | Likely benign | 2102295295 | RCV001467501; | N | 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 | 1 | 161293395 | 161293395 | | | 161293395 | - | | | NM_003001.5(SDHC):c.21-9A>T | 6391 | SDHC | Likely benign | 2102295295 | RCV001489102; | N | 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 | 1 | 161293395 | 161293395 | | | 161293395 | - | | | NM_003001.5(SDHC):c.21-8T>C | 6391 | SDHC | Likely benign | 1571843525 | RCV001444036; | N | 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 | 1 | 161293396 | 161293396 | | | 1:g.161293396T>C | - | | | NC_000001.10:g.(?_161293398)_(161332229_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000548889; | N | 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 | 1 | 161293398 | 161332229 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.21-6T>C | 6391 | SDHC | Likely benign | 779721144 | RCV001452058; | N | 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 | 1 | 161293398 | 161293398 | | | 161293398 | - | | | NM_003001.5(SDHC):c.21-3C>G | 6391 | SDHC | Uncertain significance | 1670921815 | RCV001232924; | N | 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 | 1 | 161293401 | 161293401 | | | 1:g.161293401C>G | - | | | NM_003001.5(SDHC):c.21-3C>T | 6391 | SDHC | Uncertain significance | 1670921815 | RCV001987672; | N | 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 | 1 | 161293401 | 161293401 | | | 161293401 | - | | | NM_003001.5(SDHC):c.21-2A>G | 6391 | SDHC | Pathogenic/Likely pathogenic | 1131691062 | RCV000492770|RCV001240954|RCV002063854; | N | 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:44890|MedGen:C36619 | 1 | 161293402 | 161293402 | | | 1:g.161293402A>G | ClinGen:CA343359222 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.21-1G>A | 6391 | SDHC | Likely pathogenic | -1 | RCV002797062; | N | 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 | 1 | 161293403 | 161293403 | | | NC_000001.10:g.161293403G>A | - | | | NC_000001.11:g.(?_161323614)_(161323670_?)del | 6391 | SDHC | Uncertain significance | -1 | RCV000476273; | N | 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 | 1 | 161293404 | 161293460 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.22C>T (p.His8Tyr) | 6391 | SDHC | Uncertain significance | 746666691 | RCV000555154|RCV003302832; | N | 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:140162 | 1 | 161293405 | 161293405 | | | 1:g.161293405C>T | ClinGen:CA046597 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.22C>A (p.His8Asn) | 6391 | SDHC | Uncertain significance | 746666691 | RCV002045911|RCV002458994|RCV003339895; | N | 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:140162|MONDO:MONDO:0 | 1 | 161293405 | 161293405 | | | 161293405 | - | | | NM_003001.5(SDHC):c.23A>G (p.His8Arg) | 6391 | SDHC | Uncertain significance | 776123707 | RCV001346280|RCV002447417; | N | 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:140162 | 1 | 161293406 | 161293406 | | | 161293406 | - | | | NM_003001.5(SDHC):c.24C>A (p.His8Gln) | 6391 | SDHC | Uncertain significance | 761381438 | RCV000543957|RCV001015761; | N | 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:140162 | 1 | 161293407 | 161293407 | | | 1:g.161293407C>A | ClinGen:CA047351 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.24C>T (p.His8=) | 6391 | SDHC | Likely benign | 761381438 | RCV000558743|RCV001015721; | N | 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:140162 | 1 | 161293407 | 161293407 | | | | ClinGen:CA047387 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.25G>A (p.Val9Ile) | 6391 | SDHC | Uncertain significance | 774768866 | RCV000234613|RCV002429110|RCV003227726; | N | 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:140162|MedGen:C36619 | 1 | 161293408 | 161293408 | | | 1:g.161293408G>A | ClinGen:CA047404 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.25G>T (p.Val9Phe) | 6391 | SDHC | Uncertain significance | 774768866 | RCV001207219; | N | 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 | 1 | 161293408 | 161293408 | | | 1:g.161293408G>T | - | | | NM_003001.5(SDHC):c.29G>C (p.Gly10Ala) | 6391 | SDHC | Uncertain significance | 1670923061 | RCV001308663|RCV003313212; | N | 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:C3661900 | 1 | 161293412 | 161293412 | | | 161293412 | - | | | NM_003001.5(SDHC):c.30T>C (p.Gly10=) | 6391 | SDHC | Likely benign | 1170595036 | RCV000557821|RCV003159827; | N | 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:140162 | 1 | 161293413 | 161293413 | | | | ClinGen:CA421407183 | | | NM_003001.5(SDHC):c.30T>G (p.Gly10=) | 6391 | SDHC | Likely benign | -1 | RCV002933702; | N | 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 | 1 | 161293413 | 161293413 | | | | - | | | NM_003001.5(SDHC):c.31C>T (p.Arg11Cys) | 6391 | SDHC | Uncertain significance | 759914119 | RCV000700704|RCV002268262|RCV002325411; | N | 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:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161293414 | 161293414 | | | 1:g.161293414C>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.32G>T (p.Arg11Leu) | 6391 | SDHC | Uncertain significance | 767802663 | RCV000167052|RCV000477280|RCV001657929|RCV003474886; | N | 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:29072|MedGen:C36619 | 1 | 161293415 | 161293415 | | | 1:g.161293415G>T | ClinGen:CA011533 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.32G>A (p.Arg11His) | 6391 | SDHC | Uncertain significance | 767802663 | RCV000233939|RCV001762528|RCV002256146; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161293415 | 161293415 | | | 1:g.161293415G>A | ClinGen:CA047588 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.34C>G (p.His12Asp) | 6391 | SDHC | Uncertain significance | 1670923808 | RCV001299212|RCV003373104; | N | 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:140162 | 1 | 161293417 | 161293417 | | | 161293417 | - | | | NM_003001.5(SDHC):c.35A>G (p.His12Arg) | 6391 | SDHC | Uncertain significance | 1670923933 | RCV001208768; | N | 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 | 1 | 161293418 | 161293418 | | | 1:g.161293418A>G | - | | | NM_003001.5(SDHC):c.35A>T (p.His12Leu) | 6391 | SDHC | Uncertain significance | -1 | RCV002751546; | N | 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 | 1 | 161293418 | 161293418 | | | NC_000001.10:g.161293418A>T | - | | | NM_003001.5(SDHC):c.36T>C (p.His12=) | 6391 | SDHC | Likely benign | -1 | RCV002654549; | N | 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 | 1 | 161293419 | 161293419 | | | | - | | | NM_003001.5(SDHC):c.38G>T (p.Cys13Phe) | 6391 | SDHC | Uncertain significance | 1558164528 | RCV000694826; | N | 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 | 1 | 161293421 | 161293421 | | | 1:g.161293421G>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr) | 6391 | SDHC | Uncertain significance | 1558164528 | RCV001230946; | N | 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 | 1 | 161293421 | 161293421 | | | 1:g.161293421G>A | - | | | NM_003001.5(SDHC):c.40C>T (p.Leu14Phe) | 6391 | SDHC | Uncertain significance | 760986608 | RCV000506825|RCV000535370|RCV001021867; | N | MedGen: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:1401 | 1 | 161293423 | 161293423 | | | NC_000001.10:g.161293423C>T | ClinGen:CA047926 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.42C>T (p.Leu14=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1331533952 | RCV000641925|RCV003325505|RCV002331176; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161293425 | 161293425 | | | | ClinGen:CA421407227 | | | NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) | 6391 | SDHC | Pathogenic | 201286421 | RCV000034695|RCV000128874|RCV000486068|RCV000505325|RCV000627763|RCV003473256; | N | MONDO: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,Me | 1 | 161293426 | 161293426 | | | 1:g.161293426C>T | ClinGen:CA011542 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.43C>G (p.Arg15Gly) | 6391 | SDHC | Uncertain significance | 201286421 | RCV001875430|RCV002473317|RCV003166944; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161293426 | 161293426 | | | 161293426 | - | | | NM_003001.5(SDHC):c.44G>A (p.Arg15Gln) | 6391 | SDHC | Uncertain significance | 1294873008 | RCV000811379|RCV001022590; | N | 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:140162 | 1 | 161293427 | 161293427 | | | 1:g.161293427G>A | - | | | NM_003001.5(SDHC):c.45A>T (p.Arg15=) | 6391 | SDHC | Likely benign | 1007336839 | RCV001414786|RCV002341897; | N | 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:140162 | 1 | 161293428 | 161293428 | | | | - | | | NM_003001.5(SDHC):c.46G>A (p.Ala16Thr) | 6391 | SDHC | Uncertain significance | 878994954 | RCV000821024|RCV002332706; | N | 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:140162 | 1 | 161293429 | 161293429 | | | 1:g.161293429G>A | - | | | NM_003001.5(SDHC):c.47C>A (p.Ala16Asp) | 6391 | SDHC | Uncertain significance | 1558164567 | RCV000697414; | N | 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 | 1 | 161293430 | 161293430 | | | 1:g.161293430C>A | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.47C>T (p.Ala16Val) | 6391 | SDHC | Uncertain significance | 1558164567 | RCV000699024|RCV003472228; | N | 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:D046152,MedGen:C0 | 1 | 161293430 | 161293430 | | | NC_000001.10:g.161293430C>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.49del (p.His17fs) | 6391 | SDHC | Pathogenic | -1 | RCV003149096; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161293430 | 161293430 | | | | - | | | NM_003001.5(SDHC):c.48C>G (p.Ala16=) | 6391 | SDHC | Likely benign | 1553261765 | RCV000601408|RCV001475011|RCV002331076; | N | MedGen: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:1401 | 1 | 161293431 | 161293431 | | | | ClinGen:CA421407245 | CN169374 not specified; | | NM_003001.5(SDHC):c.49C>T (p.His17Tyr) | 6391 | SDHC | Uncertain significance | 2102295552 | RCV001372274; | N | 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 | 1 | 161293432 | 161293432 | | | 161293432 | - | | | NM_003001.5(SDHC):c.54T>G (p.Phe18Leu) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 200761743 | RCV000223312|RCV000552969|RCV001101382; | N | 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:44890|MONDO:MONDO:0 | 1 | 161293437 | 161293437 | | | 1:g.161293437T>G | ClinGen:CA048079 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.54T>C (p.Phe18=) | 6391 | SDHC | Likely benign | 200761743 | RCV002161259; | N | 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 | 1 | 161293437 | 161293437 | | | | - | | | NM_003001.5(SDHC):c.55A>G (p.Ser19Gly) | 6391 | SDHC | Uncertain significance | 1670926798 | RCV001318927; | N | 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 | 1 | 161293438 | 161293438 | | | 161293438 | - | | | NM_003001.5(SDHC):c.60T>G (p.Pro20=) | 6391 | SDHC | Likely benign | 2102295634 | RCV001412745; | N | 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 | 1 | 161293443 | 161293443 | | | | - | | | NM_003001.5(SDHC):c.61C>G (p.Gln21Glu) | 6391 | SDHC | Uncertain significance | 1553261768 | RCV000560999|RCV000641909; | N | 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:44890 | 1 | 161293444 | 161293444 | | | 1:g.161293444C>G | ClinGen:CA343359552 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.63G>A (p.Gln21=) | 6391 | SDHC | Likely benign | -1 | RCV002624899; | N | 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 | 1 | 161293446 | 161293446 | | | | - | | | NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) | 6391 | SDHC | Uncertain significance | 1473438869 | RCV000526806|RCV000663232|RCV001025343|RCV001764571; | N | 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:001 | 1 | 161293447 | 161293447 | | | 1:g.161293447C>T | ClinGen:CA343359574 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.66C>G (p.Leu22=) | 6391 | SDHC | Likely benign | 778965036 | RCV000541789|RCV002268151; | N | 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:CN169374 | 1 | 161293449 | 161293449 | | | | ClinGen:CA421407326 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.66C>T (p.Leu22=) | 6391 | SDHC | Likely benign | 778965036 | RCV001399913|RCV002368257; | N | 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:140162 | 1 | 161293449 | 161293449 | | | | - | | | NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del) | 6391 | SDHC | Uncertain significance | -1 | RCV002862369; | N | 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 | 1 | 161293449 | 161293457 | | | NC_000001.10:g.161293449_161293457del | - | | | NM_003001.5(SDHC):c.67T>C (p.Cys23Arg) | 6391 | SDHC | Uncertain significance | 2102295690 | RCV001975378; | N | 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 | 1 | 161293450 | 161293450 | | | 161293450 | - | | | NM_003001.5(SDHC):c.71T>A (p.Ile24Asn) | 6391 | SDHC | Uncertain significance | 2102295698 | RCV001999496; | N | 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 | 1 | 161293454 | 161293454 | | | 161293454 | - | | | NM_003001.5(SDHC):c.73A>G (p.Arg25Gly) | 6391 | SDHC | Uncertain significance | 878854587 | RCV000229192|RCV002378989; | N | 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:140162 | 1 | 161293456 | 161293456 | | | 1:g.161293456A>G | ClinGen:CA10581735 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.74G>T (p.Arg25Ile) | 6391 | SDHC | Uncertain significance | -1 | RCV003104850; | N | 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 | 1 | 161293457 | 161293457 | | | NC_000001.10:g.161293457G>T | - | | | NM_003001.5(SDHC):c.76A>G (p.Asn26Asp) | 6391 | SDHC | Uncertain significance | 1670928309 | RCV001202058|RCV002402574; | N | 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:140162 | 1 | 161293459 | 161293459 | | | 1:g.161293459A>G | - | | | NM_003001.5(SDHC):c.77A>G (p.Asn26Ser) | 6391 | SDHC | Uncertain significance | 1670928456 | RCV001338813; | N | 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 | 1 | 161293460 | 161293460 | | | 161293460 | - | | | NM_003001.5(SDHC):c.77+1G>A | 6391 | SDHC | Likely pathogenic | 1558164647 | RCV001026732|RCV001221046; | N | 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:44890 | 1 | 161293461 | 161293461 | | | 1:g.161293461G>A | - | | | NM_003001.5(SDHC):c.77+2dup | 6391 | SDHC | Conflicting interpretations of pathogenicity | 766486676 | RCV001038332|RCV002400228; | N | 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:140162 | 1 | 161293461 | 161293462 | | | 1:g.161293461_161293462insT | - | | | NM_003001.5(SDHC):c.77+1G>C | 6391 | SDHC | Likely pathogenic | -1 | RCV003149093; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161293461 | 161293461 | | | | - | | | NM_003001.5(SDHC):c.77+3A>G | 6391 | SDHC | Uncertain significance | 750363498 | RCV001062893; | N | 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 | 1 | 161293463 | 161293463 | | | 1:g.161293463A>G | - | | | NM_003001.5(SDHC):c.77+5G>C | 6391 | SDHC | Uncertain significance | -1 | RCV003028051; | N | 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 | 1 | 161293465 | 161293465 | | | NC_000001.10:g.161293465G>C | - | | | NM_003001.5(SDHC):c.77+9C>T | 6391 | SDHC | Likely benign | 2102295766 | RCV002194231; | N | 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 | 1 | 161293469 | 161293469 | | | 161293469 | - | | | NM_003001.5(SDHC):c.77+9C>G | 6391 | SDHC | Uncertain significance | -1 | RCV002667021; | N | 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 | 1 | 161293469 | 161293469 | | | NC_000001.10:g.161293469C>G | - | | | NM_003001.5(SDHC):c.78-19C>T | 6391 | SDHC | Likely benign | 144770080 | RCV000426300|RCV001528754|RCV002063443; | N | MedGen: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 | 1 | 161298167 | 161298167 | | | 1:g.161298167C>T | ClinGen:CA048564 | CN169374 not specified; | | NM_003001.5(SDHC):c.78-19C>A | 6391 | SDHC | Likely benign | 144770080 | RCV001927008; | N | 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 | 1 | 161298167 | 161298167 | | | 161298167 | - | | | NM_003001.5(SDHC):c.78-18G>A | 6391 | SDHC | Likely benign | 780106501 | RCV001902031; | N | 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 | 1 | 161298168 | 161298168 | | | 161298168 | - | | | NM_003001.5(SDHC):c.78-17G>A | 6391 | SDHC | Likely benign | -1 | RCV003058422; | N | 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 | 1 | 161298169 | 161298169 | | | NC_000001.10:g.161298169G>A | - | | | NM_003001.5(SDHC):c.78-16T>C | 6391 | SDHC | Likely benign | 2102307516 | RCV002215538; | N | 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 | 1 | 161298170 | 161298170 | | | 161298170 | - | | | NM_003001.5(SDHC):c.78-15C>T | 6391 | SDHC | Likely benign | -1 | RCV003051172; | N | 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 | 1 | 161298171 | 161298171 | | | NC_000001.10:g.161298171C>T | - | | | NC_000001.10:g.(?_161298176)_(161332308_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001918030; | N | 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 | 1 | 161298176 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161298176)_(161298297_?)del | 6391 | SDHC | Pathogenic | -1 | RCV003113180; | N | 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 | 1 | 161298176 | 161298297 | | | | - | | | NM_003001.5(SDHC):c.78-9T>G | 6391 | SDHC | Likely benign | 2102307530 | RCV001429907; | N | 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 | 1 | 161298177 | 161298177 | | | 161298177 | - | | | NM_003001.5(SDHC):c.78-1G>T | 6391 | SDHC | Likely pathogenic | 786202200 | RCV000641911|RCV003380656; | N | 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:140162 | 1 | 161298185 | 161298185 | | | 1:g.161298185G>T | ClinGen:CA343360805 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.81T>C (p.Ala27=) | 6391 | SDHC | Likely benign | 876659297 | RCV000218349|RCV000552112; | N | 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:44890 | 1 | 161298189 | 161298189 | | | | ClinGen:CA10577664 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.82G>T (p.Val28Phe) | 6391 | SDHC | Uncertain significance | 754818119 | RCV000707254|RCV001258164|RCV002424725|RCV002485777; | N | 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MONDO:MONDO:001 | 1 | 161298190 | 161298190 | | | NC_000001.10:g.161298190G>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.82G>A (p.Val28Ile) | 6391 | SDHC | Uncertain significance | 754818119 | RCV000793631|RCV002424797; | N | 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:140162 | 1 | 161298190 | 161298190 | | | 1:g.161298190G>A | - | | | NM_003001.5(SDHC):c.82G>C (p.Val28Leu) | 6391 | SDHC | Uncertain significance | 754818119 | RCV001208039|RCV002509630; | N | 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:C3661900 | 1 | 161298190 | 161298190 | | | 1:g.161298190G>C | - | | | NM_003001.5(SDHC):c.85C>G (p.Pro29Ala) | 6391 | SDHC | Uncertain significance | 878854588 | RCV000233108|RCV001018077|RCV003153529; | N | 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:140162|MedGen:C36619 | 1 | 161298193 | 161298193 | | | 1:g.161298193C>G | ClinGen:CA10581736 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.86del (p.Pro29fs) | 6391 | SDHC | Pathogenic | 1671145065 | RCV001064681; | N | 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 | 1 | 161298193 | 161298193 | | | 1:g.161298193_161298193del | - | | | NM_003001.5(SDHC):c.86C>T (p.Pro29Leu) | 6391 | SDHC | Uncertain significance | 1671145169 | RCV001208446; | N | 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 | 1 | 161298194 | 161298194 | | | 1:g.161298194C>T | - | | | NM_003001.5(SDHC):c.91G>C (p.Gly31Arg) | 6391 | SDHC | Uncertain significance | -1 | RCV002302137; | N | 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 | 1 | 161298199 | 161298199 | | | 161298199 | - | | | NM_003001.5(SDHC):c.94A>G (p.Thr32Ala) | 6391 | SDHC | Uncertain significance | 1457574786 | RCV000530558|RCV003302833; | N | 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:140162 | 1 | 161298202 | 161298202 | | | NC_000001.10:g.161298202A>G | ClinGen:CA343360898 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.95C>A (p.Thr32Asn) | 6391 | SDHC | Uncertain significance | 1571851464 | RCV001019542|RCV001204950; | N | 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:44890 | 1 | 161298203 | 161298203 | | | 1:g.161298203C>A | - | | | NM_003001.5(SDHC):c.95C>G (p.Thr32Ser) | 6391 | SDHC | Uncertain significance | 1571851464 | RCV001359750; | N | 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 | 1 | 161298203 | 161298203 | | | 161298203 | - | | | NM_003001.5(SDHC):c.96C>T (p.Thr32=) | 6391 | SDHC | Likely benign | 1671145722 | RCV001416872; | N | 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 | 1 | 161298204 | 161298204 | | | | - | | | NM_003001.5(SDHC):c.97A>G (p.Thr33Ala) | 6391 | SDHC | Uncertain significance | 747828462 | RCV001240362|RCV003166499; | N | 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:140162 | 1 | 161298205 | 161298205 | | | 1:g.161298205A>G | - | | | NM_003001.5(SDHC):c.98C>T (p.Thr33Met) | 6391 | SDHC | Uncertain significance | 148566767 | RCV000459835|RCV000561060|RCV000759344|RCV003401466|RCV003424016|RCV003476037; | N | 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:140162|MedGen:C36619 | 1 | 161298206 | 161298206 | | | NC_000001.10:g.161298206C>T | ClinGen:CA048701 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.98C>A (p.Thr33Lys) | 6391 | SDHC | Uncertain significance | 148566767 | RCV001063469; | N | 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 | 1 | 161298206 | 161298206 | | | 1:g.161298206C>A | - | | | NM_003001.5(SDHC):c.99G>A (p.Thr33=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 145535502 | RCV000571257|RCV000641920|RCV001697418|RCV003392416; | N | 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:44890|MedGen:C36619 | 1 | 161298207 | 161298207 | | | | ClinGen:CA048713 | | | NM_003001.5(SDHC):c.99G>T (p.Thr33=) | 6391 | SDHC | Likely benign | 145535502 | RCV000641927|RCV002386065; | N | 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:140162 | 1 | 161298207 | 161298207 | | | | ClinGen:CA31686006 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.102C>T (p.Ala34=) | 6391 | SDHC | Likely benign | 1571851493 | RCV001009750|RCV001409772; | N | 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:44890 | 1 | 161298210 | 161298210 | | | | - | | | NM_003001.5(SDHC):c.103A>G (p.Lys35Glu) | 6391 | SDHC | Uncertain significance | 746315913 | RCV001017121|RCV001035296; | N | 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:44890 | 1 | 161298211 | 161298211 | | | 1:g.161298211A>G | - | | | NM_003001.5(SDHC):c.104A>C (p.Lys35Thr) | 6391 | SDHC | Uncertain significance | 1342764291 | RCV001322510; | N | 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 | 1 | 161298212 | 161298212 | | | 161298212 | - | | | NM_003001.5(SDHC):c.107_108del (p.Glu36fs) | 6391 | SDHC | Pathogenic | -1 | RCV003316970; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161298215 | 161298216 | | | | - | | | NM_003001.5(SDHC):c.108A>G (p.Glu36=) | 6391 | SDHC | Likely benign | 2102307691 | RCV001399153|RCV002449096; | N | 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:140162 | 1 | 161298216 | 161298216 | | | | - | | | NM_003001.5(SDHC):c.110A>T (p.Glu37Val) | 6391 | SDHC | Uncertain significance | 1671147192 | RCV001344166|RCV002438791; | N | 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:140162 | 1 | 161298218 | 161298218 | | | 161298218 | - | | | NM_003001.5(SDHC):c.110A>G (p.Glu37Gly) | 6391 | SDHC | Uncertain significance | -1 | RCV003045586; | N | 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 | 1 | 161298218 | 161298218 | | | NC_000001.10:g.161298218A>G | - | | | NM_003001.5(SDHC):c.113T>C (p.Met38Thr) | 6391 | SDHC | Uncertain significance | 1671147353 | RCV001247507; | N | 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 | 1 | 161298221 | 161298221 | | | 1:g.161298221T>C | - | | | NM_003001.5(SDHC):c.114G>C (p.Met38Ile) | 6391 | SDHC | Uncertain significance | 868556406 | RCV000641915|RCV002458062; | N | 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:140162 | 1 | 161298222 | 161298222 | | | 1:g.161298222G>C | ClinGen:CA31686019 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.116A>C (p.Glu39Ala) | 6391 | SDHC | Uncertain significance | 1060501388 | RCV000456335|RCV002256262|RCV003476036; | N | 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:140162|Human Phenoty | 1 | 161298224 | 161298224 | | | NC_000001.10:g.161298224A>C | ClinGen:CA16609909 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.118C>T (p.Arg40Trp) | 6391 | SDHC | Uncertain significance | 978019587 | RCV000641916|RCV001284702|RCV002334117|RCV003320716|RCV003472032; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161298226 | 161298226 | | | 1:g.161298226C>T | ClinGen:CA31686023 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.118C>G (p.Arg40Gly) | 6391 | SDHC | Uncertain significance | 978019587 | RCV000695000; | N | 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 | 1 | 161298226 | 161298226 | | | 1:g.161298226C>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.118del (p.Arg40fs) | 6391 | SDHC | Pathogenic | -1 | RCV002342914|RCV003316865; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161298226 | 161298226 | | | 161298225 | - | | | NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) | 6391 | SDHC | Uncertain significance | 772450693 | RCV000226923|RCV000568226|RCV000663162|RCV001582772|RCV003430783|RCV003475063; | N | 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:140162|MONDO:MONDO:0 | 1 | 161298227 | 161298227 | | | 1:g.161298227G>A | ClinGen:CA045699 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.120G>C (p.Arg40=) | 6391 | SDHC | Likely benign | 36097930 | RCV001441257|RCV002358987; | N | 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:140162 | 1 | 161298228 | 161298228 | | | | - | | | NM_003001.5(SDHC):c.121T>C (p.Phe41Leu) | 6391 | SDHC | Uncertain significance | 2102307780 | RCV001960802; | N | 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 | 1 | 161298229 | 161298229 | | | 161298229 | - | | | NM_003001.5(SDHC):c.122T>C (p.Phe41Ser) | 6391 | SDHC | Uncertain significance | 1671152402 | RCV001056822|RCV003307883; | N | 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:140162 | 1 | 161298230 | 161298230 | | | 1:g.161298230T>C | - | | | NM_003001.5(SDHC):c.124del (p.Trp42fs) | 6391 | SDHC | Pathogenic | 2102307803 | RCV001385231; | N | 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 | 1 | 161298232 | 161298232 | | | 161298231 | - | | | NM_003001.5(SDHC):c.127A>C (p.Asn43His) | 6391 | SDHC | Uncertain significance | 1553262439 | RCV000641914|RCV001800837|RCV002386064; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161298235 | 161298235 | | | 1:g.161298235A>C | ClinGen:CA343361095 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) | 6391 | SDHC | Uncertain significance | 747349777 | RCV000233052|RCV000763756|RCV001095933|RCV002378988; | N | 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:D046152,MedGen:C0 | 1 | 161298236 | 161298236 | | | 1:g.161298236A>G | ClinGen:CA045754 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.130A>G (p.Lys44Glu) | 6391 | SDHC | Uncertain significance | 2102307825 | RCV002043605; | N | 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 | 1 | 161298238 | 161298238 | | | 161298238 | - | | | NM_003001.5(SDHC):c.132G>A (p.Lys44=) | 6391 | SDHC | Likely benign | 2102307834 | RCV001398991|RCV002384574; | N | 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:140162 | 1 | 161298240 | 161298240 | | | | - | | | NM_003001.5(SDHC):c.133A>G (p.Asn45Asp) | 6391 | SDHC | Uncertain significance | -1 | RCV002791365; | N | 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 | 1 | 161298241 | 161298241 | | | NC_000001.10:g.161298241A>G | - | | | NM_003001.5(SDHC):c.135T>C (p.Asn45=) | 6391 | SDHC | Likely benign | 2102307847 | RCV002080350; | N | 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 | 1 | 161298243 | 161298243 | | | | - | | | NM_003001.5(SDHC):c.136A>G (p.Ile46Val) | 6391 | SDHC | Uncertain significance | 1558167321 | RCV000704346|RCV002386263; | N | 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:140162 | 1 | 161298244 | 161298244 | | | 1:g.161298244A>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.137T>C (p.Ile46Thr) | 6391 | SDHC | Uncertain significance | -1 | RCV003033011; | N | 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 | 1 | 161298245 | 161298245 | | | NC_000001.10:g.161298245T>C | - | | | NM_003001.5(SDHC):c.139G>A (p.Gly47Ser) | 6391 | SDHC | Uncertain significance | -1 | RCV003006350; | N | 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 | 1 | 161298247 | 161298247 | | | NC_000001.10:g.161298247G>A | - | | | NM_003001.5(SDHC):c.140G>C (p.Gly47Ala) | 6391 | SDHC | Uncertain significance | 1571851599 | RCV000794414; | N | 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 | 1 | 161298248 | 161298248 | | | 1:g.161298248G>C | - | | | NM_003001.5(SDHC):c.143C>T (p.Ser48Leu) | 6391 | SDHC | Uncertain significance | 1362354860 | RCV001896574; | N | 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 | 1 | 161298251 | 161298251 | | | 161298251 | - | | | NM_003001.5(SDHC):c.146A>G (p.Asn49Ser) | 6391 | SDHC | Uncertain significance | 1571851610 | RCV000807849; | N | 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 | 1 | 161298254 | 161298254 | | | 1:g.161298254A>G | - | | | NM_003001.5(SDHC):c.146A>T (p.Asn49Ile) | 6391 | SDHC | Uncertain significance | 1571851610 | RCV002016061|RCV003161185; | N | 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:140162 | 1 | 161298254 | 161298254 | | | 161298254 | - | | | NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 587778661 | RCV000122003|RCV000492504|RCV000641913|RCV000756631|RCV000826184|RCV003474732; | N | MedGen: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:290 | 1 | 161298256 | 161298256 | | | 1:g.161298256C>T | ClinGen:CA011515 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.149G>T (p.Arg50Leu) | 6391 | SDHC | Uncertain significance | 769177037 | RCV000526350; | N | 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 | 1 | 161298257 | 161298257 | | | 1:g.161298257G>T | ClinGen:CA343361232 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.149G>A (p.Arg50His) | 6391 | SDHC | Uncertain significance | 769177037 | RCV000794964|RCV002388432; | N | 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:140162 | 1 | 161298257 | 161298257 | | | 1:g.161298257G>A | - | | | NM_003001.5(SDHC):c.152C>G (p.Pro51Arg) | 6391 | SDHC | Uncertain significance | 1428542772 | RCV002031436; | N | 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 | 1 | 161298260 | 161298260 | | | 161298260 | - | | | NM_003001.5(SDHC):c.154C>T (p.Leu52=) | 6391 | SDHC | Likely benign | -1 | RCV003043341; | N | 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 | 1 | 161298262 | 161298262 | | | | - | | | NM_003001.5(SDHC):c.156G>C (p.Leu52=) | 6391 | SDHC | Likely benign | 987490127 | RCV000982840|RCV003380798; | N | 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:140162 | 1 | 161298264 | 161298264 | | | | - | | | NM_003001.5(SDHC):c.156G>A (p.Leu52=) | 6391 | SDHC | Likely benign | 987490127 | RCV002212911; | N | 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 | 1 | 161298264 | 161298264 | | | | - | | | NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1553262444 | RCV000541211|RCV001770438|RCV002395388; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161298268 | 161298268 | | | 1:g.161298268C>A | ClinGen:CA343361279 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.162C>A (p.Pro54=) | 6391 | SDHC | Likely benign | 374450282 | RCV000556076|RCV002404453; | N | 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:140162 | 1 | 161298270 | 161298270 | | | | ClinGen:CA045852 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.163C>G (p.His55Asp) | 6391 | SDHC | Uncertain significance | 1671155800 | RCV001237986; | N | 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 | 1 | 161298271 | 161298271 | | | 1:g.161298271C>G | - | | | NM_003001.5(SDHC):c.164A>G (p.His55Arg) | 6391 | SDHC | Uncertain significance | 878854585 | RCV000227923|RCV001770197|RCV002392696; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161298272 | 161298272 | | | NC_000001.10:g.161298272A>G | ClinGen:CA10581737 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.165C>T (p.His55=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 786202080 | RCV000164716|RCV000904718|RCV001089365; | N | 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:606764, Orphanet:448 | 1 | 161298273 | 161298273 | | | | ClinGen:CA011524 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.166A>C (p.Ile56Leu) | 6391 | SDHC | Uncertain significance | 1363555121 | RCV000641919|RCV003162892; | N | 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:140162 | 1 | 161298274 | 161298274 | | | 1:g.161298274A>C | ClinGen:CA343361311 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.166A>G (p.Ile56Val) | 6391 | SDHC | Uncertain significance | 1363555121 | RCV001360503|RCV002255651; | N | 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:140162 | 1 | 161298274 | 161298274 | | | 161298274 | - | | | NM_003001.5(SDHC):c.169A>G (p.Thr57Ala) | 6391 | SDHC | Uncertain significance | -1 | RCV002406276|RCV003097135; | N | 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:44890 | 1 | 161298277 | 161298277 | | | 161298277 | - | | | NM_003001.5(SDHC):c.171_179+15del | 6391 | SDHC | Likely pathogenic | 1671156558 | RCV001243668; | N | 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 | 1 | 161298279 | 161298302 | | | 1:g.161298279_161298302del | - | | | NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe) | 6391 | SDHC | Uncertain significance | 1671156871 | RCV001217601; | N | 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 | 1 | 161298280 | 161298281 | | | 1:g.161298280_161298281insTCT | - | | | NM_003001.5(SDHC):c.173T>C (p.Ile58Thr) | 6391 | SDHC | Uncertain significance | 999134407 | RCV001898711|RCV003303349; | N | 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:140162 | 1 | 161298281 | 161298281 | | | 161298281 | - | | | NM_003001.5(SDHC):c.174C>A (p.Ile58=) | 6391 | SDHC | Likely benign | -1 | RCV002629812|RCV003274315; | N | 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:140162 | 1 | 161298282 | 161298282 | | | | - | | | NM_003001.5(SDHC):c.175del (p.Tyr59fs) | 6391 | SDHC | Pathogenic | 1671157149 | RCV001233063; | N | 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 | 1 | 161298283 | 161298283 | | | 1:g.161298283_161298283del | - | | | NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp) | 6391 | SDHC | Uncertain significance | -1 | RCV002296534; | N | 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 | 1 | 161298283 | 161298283 | | | 161298283 | - | | | NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter) | 6391 | SDHC | Pathogenic | -1 | RCV003316997; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161298285 | 161298285 | | | | - | | | NM_003001.5(SDHC):c.178A>G (p.Ser60Gly) | 6391 | SDHC | Uncertain significance | 1571851728 | RCV000796480; | N | 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 | 1 | 161298286 | 161298286 | | | 1:g.161298286A>G | - | | | NM_003001.5(SDHC):c.179G>A (p.Ser60Asn) | 6391 | SDHC | Uncertain significance | 1179839529 | RCV001885713|RCV002406980; | N | 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:140162 | 1 | 161298287 | 161298287 | | | 161298287 | - | | | NM_003001.5(SDHC):c.179+1G>C | 6391 | SDHC | Likely pathogenic | 1057517818 | RCV000414585|RCV000492312|RCV001047084|RCV003323526; | N | MedGen: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:290 | 1 | 161298288 | 161298288 | | | 1:g.161298288G>C | ClinGen:CA16042288 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.179+1G>T | 6391 | SDHC | Likely pathogenic | 1057517818 | RCV001975845|RCV003475264; | N | 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|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0 | 1 | 161298288 | 161298288 | | | 161298288 | - | | | NM_003001.5(SDHC):c.179+3A>C | 6391 | SDHC | Uncertain significance | 1571851753 | RCV000801370|RCV003472367; | N | 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|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0 | 1 | 161298290 | 161298290 | | | 1:g.161298290A>C | - | | | NM_003001.5(SDHC):c.179+3A>G | 6391 | SDHC | Uncertain significance | -1 | RCV002642455; | N | 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 | 1 | 161298290 | 161298290 | | | NC_000001.10:g.161298290A>G | - | | | NM_003001.5(SDHC):c.179+4A>G | 6391 | SDHC | Uncertain significance | -1 | RCV002842398; | N | 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 | 1 | 161298291 | 161298291 | | | NC_000001.10:g.161298291A>G | - | | | NM_003001.5(SDHC):c.179+5G>C | 6391 | SDHC | Uncertain significance | 1671157979 | RCV001338236; | N | 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 | 1 | 161298292 | 161298292 | | | 161298292 | - | | | NM_003001.5(SDHC):c.179+10_179+19del | 6391 | SDHC | Likely benign | 2102308128 | RCV002189902; | N | 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 | 1 | 161298295 | 161298304 | | | 161298294 | - | | | NM_003001.5(SDHC):c.179+8A>C | 6391 | SDHC | Likely benign | 2102308122 | RCV002087361; | N | 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 | 1 | 161298295 | 161298295 | | | 161298295 | - | | | NM_003001.5(SDHC):c.179+9G>A | 6391 | SDHC | Likely benign | 1558167376 | RCV000951393; | N | 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 | 1 | 161298296 | 161298296 | | | 1:g.161298296G>A | - | | | NM_003001.5(SDHC):c.179+10G>A | 6391 | SDHC | Benign/Likely benign | 532455044 | RCV000473017|RCV000663273|RCV001284705; | N | 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072|MedGen:CN169374 | 1 | 161298297 | 161298297 | | | NC_000001.10:g.161298297G>A | ClinGen:CA045881 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.179+12T>C | 6391 | SDHC | Likely benign | -1 | RCV002999967; | N | 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 | 1 | 161298299 | 161298299 | | | NC_000001.10:g.161298299T>C | - | | | NM_003001.5(SDHC):c.179+17G>C | 6391 | SDHC | Likely benign | 2102308146 | RCV001969746; | N | 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 | 1 | 161298304 | 161298304 | | | 161298304 | - | | | NM_003001.5(SDHC):c.179+20C>A | 6391 | SDHC | Likely benign | 2102308154 | RCV002081450; | N | 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 | 1 | 161298307 | 161298307 | | | 161298307 | - | | | NM_003001.5(SDHC):c.179+3405A>G | 6391 | SDHC | Uncertain significance | -1 | RCV002828842; | N | 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 | 1 | 161301692 | 161301692 | | | NC_000001.10:g.161301692A>G | - | | | NM_003001.5(SDHC):c.180-19T>C | 6391 | SDHC | Likely benign | -1 | RCV003074850; | N | 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 | 1 | 161310365 | 161310365 | | | NC_000001.10:g.161310365T>C | - | | | NM_003001.5(SDHC):c.180-16G>A | 6391 | SDHC | Likely benign | -1 | RCV002681082; | N | 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 | 1 | 161310368 | 161310368 | | | NC_000001.10:g.161310368G>A | - | | | NM_003001.5(SDHC):c.180-15T>A | 6391 | SDHC | Likely benign | 2102335958 | RCV002107121; | N | 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 | 1 | 161310369 | 161310369 | | | 161310369 | - | | | NM_003001.5(SDHC):c.180-13T>C | 6391 | SDHC | Likely benign | -1 | RCV002681354; | N | 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 | 1 | 161310371 | 161310371 | | | NC_000001.10:g.161310371T>C | - | | | NM_003001.5(SDHC):c.180-12G>A | 6391 | SDHC | Likely benign | -1 | RCV003009456; | N | 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 | 1 | 161310372 | 161310372 | | | NC_000001.10:g.161310372G>A | - | | | NM_003001.5(SDHC):c.180-11T>G | 6391 | SDHC | Likely benign | 201473466 | RCV002080620; | N | 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 | 1 | 161310373 | 161310373 | | | 161310373 | - | | | NC_000001.10:g.(?_161310374)_(161332233_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000707877; | N | 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 | 1 | 161310374 | 161332233 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NC_000001.11:g.(?_161340584)_(161340665_?)dup | 6391 | SDHC | Likely pathogenic | -1 | RCV001031028; | N | 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 | 1 | 161310374 | 161310455 | | | -1 | - | | | NC_000001.11:g.(?_161340584)_(161356850_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001033600; | N | 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 | 1 | 161310374 | 161326640 | | | -1 | - | | | NC_000001.11:g.(?_161340584)_(161362518_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001031736; | N | 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 | 1 | 161310374 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161310374)_(161310455_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001385636; | N | 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 | 1 | 161310374 | 161310455 | | | -1 | - | | | NM_003001.5(SDHC):c.180-10T>C | 6391 | SDHC | Likely benign | 2102335974 | RCV001391920; | N | 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 | 1 | 161310374 | 161310374 | | | 161310374 | - | | | NC_000001.10:g.(?_161310374)_(161332308_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001981467; | N | 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 | 1 | 161310374 | 161332308 | | | -1 | - | | | NM_003001.5(SDHC):c.180-9T>C | 6391 | SDHC | Likely benign | 2102335976 | RCV001411905; | N | 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 | 1 | 161310375 | 161310375 | | | 161310375 | - | | | NC_000001.10:g.(?_161310378)_(161332229_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000527279; | N | 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 | 1 | 161310378 | 161332229 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.180-4A>G | 6391 | SDHC | Likely benign | -1 | RCV003109441; | N | 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 | 1 | 161310380 | 161310380 | | | NC_000001.10:g.161310380A>G | - | | | NM_003001.5(SDHC):c.180-3C>T | 6391 | SDHC | Uncertain significance | 1328389180 | RCV001806620|RCV001869485; | N | 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 | 1 | 161310381 | 161310381 | | | 161310381 | - | | | NM_003001.5(SDHC):c.180-2A>G | 6391 | SDHC | Likely pathogenic | 1363265634 | RCV002028731|RCV002407277|RCV003316861; | N | 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:140162|MONDO:MONDO:0 | 1 | 161310382 | 161310382 | | | 161310382 | - | | | NC_000001.10:g.(?_161310384)_(161310445_?)dup | 6391 | SDHC | Likely pathogenic | -1 | RCV000467204; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161310384 | 161310445 | | | | - | C1854336 605373 Paragangliomas 3; | | NM_003001.5(SDHC):c.180T>C (p.Ser60=) | 6391 | SDHC | Uncertain significance | 752482067 | RCV001925652; | N | 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 | 1 | 161310384 | 161310384 | | | | - | | | NM_003001.5(SDHC):c.183del (p.Trp61fs) | 6391 | SDHC | Pathogenic | 1671684409 | RCV001055954; | N | 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 | 1 | 161310386 | 161310386 | | | 1:g.161310386_161310386del | - | | | NM_003001.5(SDHC):c.183G>C (p.Trp61Cys) | 6391 | SDHC | Uncertain significance | 1571869120 | RCV000986018|RCV001352348|RCV002409316; | N | 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:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161310387 | 161310387 | | | 1:g.161310387G>C | - | | | NM_003001.5(SDHC):c.183G>T (p.Trp61Cys) | 6391 | SDHC | Uncertain significance | -1 | RCV002971009; | N | 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 | 1 | 161310387 | 161310387 | | | NC_000001.10:g.161310387G>T | - | | | NM_003001.5(SDHC):c.185C>G (p.Ser62Cys) | 6391 | SDHC | Uncertain significance | 1558174466 | RCV000705384; | N | 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 | 1 | 161310389 | 161310389 | | | 1:g.161310389C>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.187C>T (p.Leu63Phe) | 6391 | SDHC | Uncertain significance | 2102336071 | RCV001952335; | N | 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 | 1 | 161310391 | 161310391 | | | 161310391 | - | | | NM_003001.5(SDHC):c.190C>T (p.Pro64Ser) | 6391 | SDHC | Uncertain significance | 1571869136 | RCV000817983; | N | 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 | 1 | 161310394 | 161310394 | | | 1:g.161310394C>T | - | | | NM_003001.5(SDHC):c.193A>G (p.Met65Val) | 6391 | SDHC | Uncertain significance | 1060501392 | RCV000467607|RCV003380572; | N | 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:140162 | 1 | 161310397 | 161310397 | | | NC_000001.10:g.161310397A>G | ClinGen:CA16609914 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.193A>T (p.Met65Leu) | 6391 | SDHC | Uncertain significance | 1060501392 | RCV002047409; | N | 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 | 1 | 161310397 | 161310397 | | | 161310397 | - | | | NM_003001.5(SDHC):c.194T>A (p.Met65Lys) | 6391 | SDHC | Uncertain significance | 2102336108 | RCV001968384; | N | 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 | 1 | 161310398 | 161310398 | | | 161310398 | - | | | NM_003001.5(SDHC):c.196G>A (p.Ala66Thr) | 6391 | SDHC | Uncertain significance | 1162090559 | RCV001041119; | N | 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 | 1 | 161310400 | 161310400 | | | 1:g.161310400G>A | - | | | NM_003001.5(SDHC):c.197C>T (p.Ala66Val) | 6391 | SDHC | Uncertain significance | 760572684 | RCV000410077|RCV000529986|RCV001013940|RCV003445918|RCV003475995; | N | MONDO: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:001 | 1 | 161310401 | 161310401 | | | 1:g.161310401C>T | ClinGen:CA046267 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.197C>G (p.Ala66Gly) | 6391 | SDHC | Uncertain significance | 760572684 | RCV000694432; | N | 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 | 1 | 161310401 | 161310401 | | | 1:g.161310401C>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.197C>A (p.Ala66Glu) | 6391 | SDHC | Uncertain significance | 760572684 | RCV001242604; | N | 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 | 1 | 161310401 | 161310401 | | | 1:g.161310401C>A | - | | | NM_003001.5(SDHC):c.198G>A (p.Ala66=) | 6391 | SDHC | Likely benign | 763628960 | RCV001013965|RCV001474147; | N | 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:29072 | 1 | 161310402 | 161310402 | | | | - | | | NM_003001.5(SDHC):c.200T>C (p.Met67Thr) | 6391 | SDHC | Uncertain significance | 1287584713 | RCV000699006|RCV002422550; | N | 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:140162 | 1 | 161310404 | 161310404 | | | 1:g.161310404T>C | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.200T>A (p.Met67Lys) | 6391 | SDHC | Uncertain significance | 1287584713 | RCV001342030|RCV002419007; | N | 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:140162 | 1 | 161310404 | 161310404 | | | 161310404 | - | | | NM_003001.5(SDHC):c.201G>A (p.Met67Ile) | 6391 | SDHC | Uncertain significance | -1 | RCV002658470; | N | 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 | 1 | 161310405 | 161310405 | | | NC_000001.10:g.161310405G>A | - | | | NM_003001.5(SDHC):c.205A>G (p.Ile69Val) | 6391 | SDHC | Uncertain significance | 753561812 | RCV000641921|RCV002420748; | N | 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:140162 | 1 | 161310409 | 161310409 | | | 1:g.161310409A>G | ClinGen:CA046402 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.210C>T (p.Cys70=) | 6391 | SDHC | Likely benign | 2102336228 | RCV001414751; | N | 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 | 1 | 161310414 | 161310414 | | | | - | | | NM_003001.5(SDHC):c.211C>T (p.His71Tyr) | 6391 | SDHC | Uncertain significance | -1 | RCV002623060; | N | 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 | 1 | 161310415 | 161310415 | | | NC_000001.10:g.161310415C>T | - | | | NM_003001.5(SDHC):c.214del (p.Arg72fs) | 6391 | SDHC | Pathogenic | 2102336244 | RCV001953500; | N | 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 | 1 | 161310417 | 161310417 | | | 161310416 | - | | | NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 756676111 | RCV000809817|RCV001565641|RCV002424897; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161310418 | 161310418 | | | 1:g.161310418C>T | - | | | NM_003001.5(SDHC):c.214C>G (p.Arg72Gly) | 6391 | SDHC | Conflicting interpretations of pathogenicity | -1 | RCV002432431|RCV003098662; | N | 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:44890 | 1 | 161310418 | 161310418 | | | 161310418 | - | | | NM_003001.5(SDHC):c.215G>A (p.Arg72His) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 778582853 | RCV000462244|RCV001551958|RCV002429493|RCV003476035; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161310419 | 161310419 | | | NC_000001.10:g.161310419G>A | ClinGen:CA046536 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.215del (p.Arg72fs) | 6391 | SDHC | Pathogenic | 1553264218 | RCV000641907; | N | 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 | 1 | 161310419 | 161310419 | | | 1:g.161310419_161310419del | ClinGen:CA658795560 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.219C>T (p.Gly73=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 752049668 | RCV001316222|RCV002431899; | N | 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:140162 | 1 | 161310423 | 161310423 | | | | - | | | NM_003001.5(SDHC):c.220dup (p.Thr74fs) | 6391 | SDHC | Pathogenic | -1 | RCV002881906; | N | 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 | 1 | 161310423 | 161310424 | | | NC_000001.10:g.161310424dup | - | | | NM_003001.5(SDHC):c.220A>G (p.Thr74Ala) | 6391 | SDHC | Uncertain significance | 1060501391 | RCV000466497|RCV002429494|RCV003418169; | N | 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:140162| | 1 | 161310424 | 161310424 | | | NC_000001.10:g.161310424A>G | ClinGen:CA16609917 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.221C>T (p.Thr74Ile) | 6391 | SDHC | Uncertain significance | 1332910409 | RCV000540277|RCV002431621|RCV003105951; | N | 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:140162|MedGen:C36619 | 1 | 161310425 | 161310425 | | | 1:g.161310425C>T | ClinGen:CA343365994 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.222T>C (p.Thr74=) | 6391 | SDHC | Likely benign | -1 | RCV003040741; | N | 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 | 1 | 161310426 | 161310426 | | | | - | | | NM_003001.5(SDHC):c.226A>G (p.Ile76Val) | 6391 | SDHC | Uncertain significance | 1060501389 | RCV000469587; | N | 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 | 1 | 161310430 | 161310430 | | | NC_000001.10:g.161310430A>G | ClinGen:CA16609895 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.230C>A (p.Ala77Asp) | 6391 | SDHC | Uncertain significance | 1060501393 | RCV000476570; | N | 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 | 1 | 161310434 | 161310434 | | | NC_000001.10:g.161310434C>A | ClinGen:CA16609916 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.233dup (p.Leu78fs) | 6391 | SDHC | Pathogenic | 1571869304 | RCV001015229|RCV001382560; | N | 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:29072 | 1 | 161310434 | 161310435 | | | 1:g.161310434_161310435insT | - | | | NM_003001.5(SDHC):c.232T>C (p.Leu78=) | 6391 | SDHC | Likely benign | 1553264225 | RCV001437985; | N | 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 | 1 | 161310436 | 161310436 | | | | - | | | NM_003001.5(SDHC):c.237T>G (p.Ser79Arg) | 6391 | SDHC | Uncertain significance | -1 | RCV002299961; | N | 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 | 1 | 161310441 | 161310441 | | | 161310441 | - | | | NM_003001.5(SDHC):c.238G>A (p.Ala80Thr) | 6391 | SDHC | Uncertain significance | 149375851 | RCV000470224|RCV002451096; | N | 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:140162 | 1 | 161310442 | 161310442 | | | NC_000001.10:g.161310442G>A | ClinGen:CA046616 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.240A>G (p.Ala80=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1671687938 | RCV001918536|RCV003167112; | N | 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:140162 | 1 | 161310444 | 161310444 | | | | - | | | NM_003001.5(SDHC):c.241G>T (p.Gly81Trp) | 6391 | SDHC | Uncertain significance | 2102336404 | RCV001910987; | N | 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 | 1 | 161310445 | 161310445 | | | 161310445 | - | | | NM_003001.5(SDHC):c.241+3A>G | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1413662099 | RCV000533604|RCV002448700; | N | 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:140162 | 1 | 161310448 | 161310448 | | | 1:g.161310448A>G | ClinGen:CA526862026 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.241+5dup | 6391 | SDHC | Uncertain significance | 2102336440 | RCV002022872; | N | 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 | 1 | 161310449 | 161310450 | | | 161310449 | - | | | NM_003001.5(SDHC):c.241+5G>A | 6391 | SDHC | Uncertain significance | 1167538377 | RCV000697942; | N | 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 | 1 | 161310450 | 161310450 | | | 1:g.161310450G>A | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.241+7_241+10del | 6391 | SDHC | Likely benign | 1571869349 | RCV001423445; | N | 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 | 1 | 161310451 | 161310454 | | | 1:g.161310451_161310454del | - | | | NM_003001.5(SDHC):c.241+9_241+10del | 6391 | SDHC | Likely benign | 1571869349 | RCV001504099; | N | 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 | 1 | 161310451 | 161310452 | | | 161310450 | - | | | NM_003001.5(SDHC):c.241+7A>G | 6391 | SDHC | Likely benign | 878854586 | RCV000230691; | N | 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 | 1 | 161310452 | 161310452 | | | 1:g.161310452A>G | ClinGen:CA10581738 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.241+13_241+14del | 6391 | SDHC | Likely benign | 2102336452 | RCV002159604; | N | 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 | 1 | 161310455 | 161310456 | | | 161310454 | - | | | NM_003001.5(SDHC):c.241+12T>C | 6391 | SDHC | Likely benign | 2102336458 | RCV002122463; | N | 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 | 1 | 161310457 | 161310457 | | | 161310457 | - | | | NM_003001.5(SDHC):c.241+14T>C | 6391 | SDHC | Likely benign | 2102336463 | RCV002198131; | N | 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 | 1 | 161310459 | 161310459 | | | 161310459 | - | | | NM_003001.5(SDHC):c.241+15T>C | 6391 | SDHC | Likely benign | -1 | RCV003060709; | N | 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 | 1 | 161310460 | 161310460 | | | NC_000001.10:g.161310460T>C | - | | | NM_003001.5(SDHC):c.241+17T>C | 6391 | SDHC | Likely benign | -1 | RCV003039226; | N | 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 | 1 | 161310462 | 161310462 | | | NC_000001.10:g.161310462T>C | - | | | NM_003001.5(SDHC):c.241+18T>A | 6391 | SDHC | Likely benign | 2102336473 | RCV002102842; | N | 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 | 1 | 161310463 | 161310463 | | | 161310463 | - | | | NM_003001.5(SDHC):c.241+20C>A | 6391 | SDHC | Likely benign | -1 | RCV003068076; | N | 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 | 1 | 161310465 | 161310465 | | | NC_000001.10:g.161310465C>A | - | | | NM_003001.5(SDHC):c.241+20C>G | 6391 | SDHC | Likely benign | -1 | RCV003089649; | N | 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 | 1 | 161310465 | 161310465 | | | NC_000001.10:g.161310465C>G | - | | | NM_003001.5(SDHC):c.242-17C>T | 6391 | SDHC | Likely benign | 1672283295 | RCV002198844; | N | 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 | 1 | 161326450 | 161326450 | | | 161326450 | - | | | NM_003001.5(SDHC):c.242-15T>C | 6391 | SDHC | Conflicting interpretations of pathogenicity | 961762320 | RCV002074041|RCV003238488; | N | 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:C3661900 | 1 | 161326452 | 161326452 | | | 161326452 | - | | | NM_003001.5(SDHC):c.242-13G>C | 6391 | SDHC | Likely benign | -1 | RCV003005291; | N | 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 | 1 | 161326454 | 161326454 | | | NC_000001.10:g.161326454G>C | - | | | NM_003001.5(SDHC):c.242-9del | 6391 | SDHC | Benign/Likely benign | -1 | RCV002466034|RCV002569349; | N | MedGen: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 | 1 | 161326455 | 161326455 | | | NC_000001.10:g.161326458del | - | | | NC_000001.11:g.(?_161356667)_(161362443_?)del | 6391 | SDHC | Pathogenic | -1 | RCV000805911; | N | 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 | 1 | 161326457 | 161332233 | | | | - | | | NC_000001.11:g.(?_161356667)_(161356850_?)del | 6391 | SDHC | Pathogenic | -1 | RCV000798825; | N | 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 | 1 | 161326457 | 161326640 | | | | - | | | NC_000001.11:g.(?_161356667)_(161362518_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001032021; | N | 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 | 1 | 161326457 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161326457)_(161332308_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001390572; | N | 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 | 1 | 161326457 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161326457)_(161326640_?)dup | 6391 | SDHC | Likely pathogenic | -1 | RCV003113181; | N | 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 | 1 | 161326457 | 161326640 | | | | - | | | NC_000001.10:g.(?_161326461)_(161332229_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV000542153; | N | 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 | 1 | 161326461 | 161332229 | | | | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.242-6C>T | 6391 | SDHC | Likely benign | 1571889931 | RCV001407743; | N | 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 | 1 | 161326461 | 161326461 | | | 1:g.161326461C>T | - | | | NM_003001.5(SDHC):c.242-6C>A | 6391 | SDHC | Uncertain significance | 1571889931 | RCV001902011; | N | 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 | 1 | 161326461 | 161326461 | | | 161326461 | - | | | NC_000001.11:g.(?_161356677)_(161356840_?)del | 6391 | SDHC | Pathogenic | -1 | RCV000473701; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161326467 | 161326630 | | | | - | C1854336 605373 Paragangliomas 3; | | NM_003001.5(SDHC):c.242G>T (p.Gly81Val) | 6391 | SDHC | Uncertain significance | 781756162 | RCV001015507|RCV001860795; | N | 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:29072 | 1 | 161326467 | 161326467 | | | 1:g.161326467G>T | - | | | NM_003001.5(SDHC):c.243G>T (p.Gly81=) | 6391 | SDHC | Uncertain significance | 1314593051 | RCV000819067; | N | 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 | 1 | 161326468 | 161326468 | | | | - | | | NM_003001.5(SDHC):c.243G>C (p.Gly81=) | 6391 | SDHC | Likely benign | 1314593051 | RCV001500244; | N | 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 | 1 | 161326468 | 161326468 | | | | - | | | NM_003001.5(SDHC):c.243G>A (p.Gly81=) | 6391 | SDHC | Likely benign | -1 | RCV002700091; | N | 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 | 1 | 161326468 | 161326468 | | | | - | | | NM_003001.5(SDHC):c.244G>T (p.Val82Phe) | 6391 | SDHC | Uncertain significance | 570325845 | RCV000461822|RCV002446798; | N | 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:140162 | 1 | 161326469 | 161326469 | | | NC_000001.10:g.161326469G>T | ClinGen:CA047220 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.244G>A (p.Val82Ile) | 6391 | SDHC | Uncertain significance | 570325845 | RCV001365419; | N | 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 | 1 | 161326469 | 161326469 | | | 161326469 | - | | | NM_003001.5(SDHC):c.250_251del (p.Leu84fs) | 6391 | SDHC | Pathogenic | 2102370242 | RCV001380966|RCV003375274; | N | 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:140162 | 1 | 161326470 | 161326471 | | | 161326469 | - | | | NM_003001.5(SDHC):c.247dup (p.Ser83fs) | 6391 | SDHC | Pathogenic | 1672284298 | RCV001058295; | N | 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 | 1 | 161326471 | 161326472 | | | 1:g.161326471_161326472insT | - | | | NM_003001.5(SDHC):c.246C>G (p.Val82=) | 6391 | SDHC | Likely benign | 2102370246 | RCV001461433; | N | 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 | 1 | 161326471 | 161326471 | | | | - | | | NM_003001.5(SDHC):c.247T>C (p.Ser83Pro) | 6391 | SDHC | Uncertain significance | 1558182753 | RCV000703211; | N | 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 | 1 | 161326472 | 161326472 | | | 1:g.161326472T>C | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.247T>G (p.Ser83Ala) | 6391 | SDHC | Uncertain significance | 1558182753 | RCV000795175; | N | 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 | 1 | 161326472 | 161326472 | | | 1:g.161326472T>G | - | | | NM_003001.5(SDHC):c.248C>G (p.Ser83Cys) | 6391 | SDHC | Uncertain significance | 1227520085 | RCV001913049|RCV002425208; | N | 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:140162 | 1 | 161326473 | 161326473 | | | 161326473 | - | | | NM_003001.5(SDHC):c.250C>G (p.Leu84Val) | 6391 | SDHC | Uncertain significance | 942160050 | RCV000815996; | N | 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 | 1 | 161326475 | 161326475 | | | 1:g.161326475C>G | - | | | NM_003001.5(SDHC):c.250C>A (p.Leu84Ile) | 6391 | SDHC | Uncertain significance | 942160050 | RCV001370183|RCV003169897; | N | 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:140162 | 1 | 161326475 | 161326475 | | | 161326475 | - | | | NM_003001.5(SDHC):c.251T>G (p.Leu84Arg) | 6391 | SDHC | Uncertain significance | 1672284764 | RCV001314473|RCV002431892; | N | 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:140162 | 1 | 161326476 | 161326476 | | | 161326476 | - | | | NM_003001.5(SDHC):c.254T>G (p.Phe85Cys) | 6391 | SDHC | Uncertain significance | 1672284859 | RCV001057478|RCV002451240; | N | 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:140162 | 1 | 161326479 | 161326479 | | | 1:g.161326479T>G | - | | | NM_003001.5(SDHC):c.254T>C (p.Phe85Ser) | 6391 | SDHC | Uncertain significance | 1672284859 | RCV001953322; | N | 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 | 1 | 161326479 | 161326479 | | | 161326479 | - | | | NM_003001.5(SDHC):c.255T>C (p.Phe85=) | 6391 | SDHC | Likely benign | 2102370353 | RCV002454376|RCV002199696; | N | 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:29072 | 1 | 161326480 | 161326480 | | | | - | | | NM_003001.5(SDHC):c.257G>A (p.Gly86Asp) | 6391 | SDHC | Uncertain significance | -1 | RCV002979130; | N | 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 | 1 | 161326482 | 161326482 | | | NC_000001.10:g.161326482G>A | - | | | NM_003001.5(SDHC):c.259A>C (p.Met87Leu) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 756382502 | RCV000810493|RCV002424899; | N | 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:140162 | 1 | 161326484 | 161326484 | | | 1:g.161326484A>C | - | | | NM_003001.5(SDHC):c.259A>G (p.Met87Val) | 6391 | SDHC | Uncertain significance | 756382502 | RCV000799859; | N | 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 | 1 | 161326484 | 161326484 | | | 1:g.161326484A>G | - | | | NM_003001.5(SDHC):c.260T>C (p.Met87Thr) | 6391 | SDHC | Uncertain significance | 2102370399 | RCV001362256; | N | 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 | 1 | 161326485 | 161326485 | | | 161326485 | - | | | NM_003001.5(SDHC):c.261G>T (p.Met87Ile) | 6391 | SDHC | Uncertain significance | 1558182772 | RCV000686334; | N | 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 | 1 | 161326486 | 161326486 | | | 1:g.161326486G>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.263C>T (p.Ser88Leu) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 778212096 | RCV000472364|RCV001016164|RCV001770320|RCV003476038; | N | 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:140162|MedGen:C36619 | 1 | 161326488 | 161326488 | | | NC_000001.10:g.161326488C>T | ClinGen:CA047197 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.264G>A (p.Ser88=) | 6391 | SDHC | Likely benign | 1277488324 | RCV000532664|RCV001016207; | N | 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:140162 | 1 | 161326489 | 161326489 | | | | ClinGen:CA421501010 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.268C>G (p.Leu90Val) | 6391 | SDHC | Uncertain significance | 771138203 | RCV001362863|RCV002456556|RCV003473884; | N | 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:140162|Human Phenoty | 1 | 161326493 | 161326493 | | | 161326493 | - | | | NM_003001.5(SDHC):c.271T>G (p.Leu91Val) | 6391 | SDHC | Uncertain significance | 144532303 | RCV000701184; | N | 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 | 1 | 161326496 | 161326496 | | | 1:g.161326496T>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.274C>T (p.Leu92Phe) | 6391 | SDHC | Uncertain significance | 1672286186 | RCV001213680; | N | 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 | 1 | 161326499 | 161326499 | | | 1:g.161326499C>T | - | | | NM_003001.5(SDHC):c.278dup (p.Gly94fs) | 6391 | SDHC | Pathogenic | 1483039185 | RCV001384853; | N | 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 | 1 | 161326500 | 161326501 | | | 161326500 | - | | | NM_003001.5(SDHC):c.276C>G (p.Leu92=) | 6391 | SDHC | Likely benign | -1 | RCV002815229; | N | 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 | 1 | 161326501 | 161326501 | | | | - | | | NM_003001.5(SDHC):c.279T>G (p.Pro93=) | 6391 | SDHC | Likely benign | 2102370578 | RCV001426868; | N | 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 | 1 | 161326504 | 161326504 | | | | - | | | NM_003001.5(SDHC):c.282G>A (p.Gly94=) | 6391 | SDHC | Likely benign | 536197277 | RCV000228379|RCV001016712; | N | 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:140162 | 1 | 161326507 | 161326507 | | | | ClinGen:CA047161 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.282G>T (p.Gly94=) | 6391 | SDHC | Likely benign | 536197277 | RCV000542990|RCV002438376; | N | 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:140162 | 1 | 161326507 | 161326507 | | | | ClinGen:CA421501028 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.285C>G (p.Asn95Lys) | 6391 | SDHC | Uncertain significance | 1347081665 | RCV001066428; | N | 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 | 1 | 161326510 | 161326510 | | | 1:g.161326510C>G | - | | | NM_003001.5(SDHC):c.288dup (p.Glu97Ter) | 6391 | SDHC | Pathogenic | -1 | RCV002899357; | N | 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 | 1 | 161326510 | 161326511 | | | NC_000001.10:g.161326513dup | - | | | NM_003001.5(SDHC):c.287T>G (p.Phe96Cys) | 6391 | SDHC | Uncertain significance | -1 | RCV002437787|RCV003102821; | N | 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:44890 | 1 | 161326512 | 161326512 | | | 161326512 | - | | | NM_003001.5(SDHC):c.290A>G (p.Glu97Gly) | 6391 | SDHC | Uncertain significance | 1672286669 | RCV001958220; | N | 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 | 1 | 161326515 | 161326515 | | | 161326515 | - | | | NM_003001.5(SDHC):c.291G>A (p.Glu97=) | 6391 | SDHC | Likely benign | -1 | RCV002667015; | N | 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 | 1 | 161326516 | 161326516 | | | | - | | | NM_003001.5(SDHC):c.291G>C (p.Glu97Asp) | 6391 | SDHC | Uncertain significance | -1 | RCV003066229; | N | 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 | 1 | 161326516 | 161326516 | | | NC_000001.10:g.161326516G>C | - | | | NM_003001.5(SDHC):c.292T>G (p.Ser98Ala) | 6391 | SDHC | Uncertain significance | 371462564 | RCV000130580|RCV000460687|RCV000508544|RCV001557433|RCV003474766; | N | 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:44890|MedGen:CN1693 | 1 | 161326517 | 161326517 | | | 1:g.161326517T>G | ClinGen:CA011456 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.294T>C (p.Ser98=) | 6391 | SDHC | Likely benign | 376292127 | RCV000641926|RCV002440288; | N | 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:140162 | 1 | 161326519 | 161326519 | | | | ClinGen:CA421501033 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.294T>G (p.Ser98=) | 6391 | SDHC | Likely benign | 376292127 | RCV000877638|RCV001200371|RCV002434163; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161326519 | 161326519 | | | | - | | | NM_003001.5(SDHC):c.295T>C (p.Tyr99His) | 6391 | SDHC | Uncertain significance | 760678574 | RCV000231142|RCV000482240|RCV002256145|RCV003475064; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161326520 | 161326520 | | | 1:g.161326520T>C | ClinGen:CA047136 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys) | 6391 | SDHC | Uncertain significance | 1060501390 | RCV000458782; | N | 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 | 1 | 161326521 | 161326521 | | | NC_000001.10:g.161326521A>G | ClinGen:CA16609900 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.297T>C (p.Tyr99=) | 6391 | SDHC | Likely benign | 2102370693 | RCV001414226; | N | 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 | 1 | 161326522 | 161326522 | | | | - | | | NM_003001.5(SDHC):c.301G>A (p.Glu101Lys) | 6391 | SDHC | Uncertain significance | 1571890168 | RCV000811984; | N | 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 | 1 | 161326526 | 161326526 | | | 1:g.161326526G>A | - | | | NM_003001.5(SDHC):c.304C>T (p.Leu102Phe) | 6391 | SDHC | Uncertain significance | 1571890177 | RCV000806069; | N | 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 | 1 | 161326529 | 161326529 | | | 1:g.161326529C>T | - | | | NM_003001.5(SDHC):c.307G>A (p.Val103Met) | 6391 | SDHC | Uncertain significance | 896411432 | RCV002041069; | N | 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 | 1 | 161326532 | 161326532 | | | 161326532 | - | | | NM_003001.5(SDHC):c.308T>A (p.Val103Glu) | 6391 | SDHC | Uncertain significance | -1 | RCV002825321; | N | 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 | 1 | 161326533 | 161326533 | | | NC_000001.10:g.161326533T>A | - | | | NM_003001.5(SDHC):c.309G>A (p.Val103=) | 6391 | SDHC | Likely benign | 768273090 | RCV000464974|RCV002323780; | N | 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:140162 | 1 | 161326534 | 161326534 | | | | ClinGen:CA047128 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.312G>A (p.Lys104=) | 6391 | SDHC | Likely benign | 1395923291 | RCV001459566; | N | 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 | 1 | 161326537 | 161326537 | | | | - | | | NM_003001.5(SDHC):c.315C>G (p.Ser105=) | 6391 | SDHC | Likely benign | 2102370802 | RCV001461113; | N | 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 | 1 | 161326540 | 161326540 | | | | - | | | NM_003001.5(SDHC):c.315C>T (p.Ser105=) | 6391 | SDHC | Likely benign | 2102370802 | RCV002137205|RCV002325638; | N | 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:140162 | 1 | 161326540 | 161326540 | | | | - | | | NM_003001.5(SDHC):c.316C>G (p.Leu106Val) | 6391 | SDHC | Uncertain significance | -1 | RCV002602567; | N | 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 | 1 | 161326541 | 161326541 | | | NC_000001.10:g.161326541C>G | - | | | NM_003001.5(SDHC):c.318G>A (p.Leu106=) | 6391 | SDHC | Likely benign | 1166833684 | RCV001425611|RCV002320071; | N | 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:140162 | 1 | 161326543 | 161326543 | | | | - | | | NM_003001.5(SDHC):c.322C>T (p.Leu108=) | 6391 | SDHC | Likely benign | 2102370841 | RCV001451445|RCV002322490; | N | 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:140162 | 1 | 161326547 | 161326547 | | | | - | | | NM_003001.5(SDHC):c.326G>C (p.Gly109Ala) | 6391 | SDHC | Uncertain significance | 1571890248 | RCV000806531|RCV002442693; | N | 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:140162 | 1 | 161326551 | 161326551 | | | 1:g.161326551G>C | - | | | NM_003001.5(SDHC):c.329C>T (p.Pro110Leu) | 6391 | SDHC | Uncertain significance | 776485432 | RCV000692772|RCV001766487; | N | 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:C3661900 | 1 | 161326554 | 161326554 | | | NC_000001.10:g.161326554C>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.333A>G (p.Ala111=) | 6391 | SDHC | Likely benign | 950221552 | RCV000461015|RCV001020031; | N | 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:140162 | 1 | 161326558 | 161326558 | | | | ClinGen:CA16609918 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.334C>G (p.Leu112Val) | 6391 | SDHC | Uncertain significance | 1329297940 | RCV000821130; | N | 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 | 1 | 161326559 | 161326559 | | | 1:g.161326559C>G | - | | | NM_003001.5(SDHC):c.334C>T (p.Leu112=) | 6391 | SDHC | Likely benign | 1329297940 | RCV001409798; | N | 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 | 1 | 161326559 | 161326559 | | | | - | | | NM_003001.5(SDHC):c.337A>G (p.Ile113Val) | 6391 | SDHC | Uncertain significance | 1558182863 | RCV000696379; | N | 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 | 1 | 161326562 | 161326562 | | | NC_000001.10:g.161326562A>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.339C>T (p.Ile113=) | 6391 | SDHC | Likely benign | 1047677628 | RCV001020195|RCV001484292; | N | 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:44890 | 1 | 161326564 | 161326564 | | | | - | | | NM_003001.5(SDHC):c.342C>T (p.His114=) | 6391 | SDHC | Benign/Likely benign | 143730978 | RCV000506595|RCV000759343|RCV000573820|RCV001079355; | N | MedGen: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:606 | 1 | 161326567 | 161326567 | | | | ClinGen:CA047111 | | | NM_003001.5(SDHC):c.345A>G (p.Thr115=) | 6391 | SDHC | Likely benign | 2102371010 | RCV001447338|RCV002456753; | N | 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:140162 | 1 | 161326570 | 161326570 | | | | - | | | NM_003001.5(SDHC):c.349_350del (p.Lys117fs) | 6391 | SDHC | Pathogenic | 1672291512 | RCV001202377; | N | 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 | 1 | 161326574 | 161326575 | | | 1:g.161326574_161326575del | - | | | NM_003001.5(SDHC):c.350A>G (p.Lys117Arg) | 6391 | SDHC | Uncertain significance | 1571890337 | RCV000994159|RCV002549853; | N | 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:44890 | 1 | 161326575 | 161326575 | | | 1:g.161326575A>G | - | | | NM_003001.5(SDHC):c.351G>A (p.Lys117=) | 6391 | SDHC | Likely benign | 1571890344 | RCV000876146|RCV002454039; | N | 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:140162 | 1 | 161326576 | 161326576 | | | | - | | | NM_003001.5(SDHC):c.354T>C (p.Phe118=) | 6391 | SDHC | Benign/Likely benign | 61733156 | RCV000151829|RCV000162606|RCV000589493|RCV001079839|RCV003315940; | N | MedGen: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:606 | 1 | 161326579 | 161326579 | | | | ClinGen:CA011442 | | | NM_003001.5(SDHC):c.356C>T (p.Ala119Val) | 6391 | SDHC | Uncertain significance | -1 | RCV002953932|RCV003170719; | N | 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:140162 | 1 | 161326581 | 161326581 | | | NC_000001.10:g.161326581C>T | - | | | NM_003001.5(SDHC):c.357A>G (p.Ala119=) | 6391 | SDHC | Likely benign | 2102371098 | RCV002135709; | N | 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 | 1 | 161326582 | 161326582 | | | | - | | | NM_003001.5(SDHC):c.358C>T (p.Leu120Phe) | 6391 | SDHC | Uncertain significance | 1161002093 | RCV000641922|RCV002256432; | N | 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:140162 | 1 | 161326583 | 161326583 | | | 1:g.161326583C>T | ClinGen:CA343456612 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.359T>G (p.Leu120Arg) | 6391 | SDHC | Uncertain significance | 1672292051 | RCV001321576|RCV003166865; | N | 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:140162 | 1 | 161326584 | 161326584 | | | 161326584 | - | | | NM_003001.5(SDHC):c.360T>C (p.Leu120=) | 6391 | SDHC | Likely benign | 2102371131 | RCV002149187; | N | 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 | 1 | 161326585 | 161326585 | | | | - | | | NM_003001.5(SDHC):c.362T>C (p.Val121Ala) | 6391 | SDHC | Uncertain significance | -1 | RCV002995307|RCV003308395; | N | 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:140162 | 1 | 161326587 | 161326587 | | | NC_000001.10:g.161326587T>C | - | | | NM_003001.5(SDHC):c.363C>T (p.Val121=) | 6391 | SDHC | Likely benign | 1273832397 | RCV002086685|RCV002454498; | N | 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:140162 | 1 | 161326588 | 161326588 | | | | - | | | NM_003001.5(SDHC):c.363C>A (p.Val121=) | 6391 | SDHC | Likely benign | -1 | RCV002917980; | N | 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 | 1 | 161326588 | 161326588 | | | | - | | | NM_003001.5(SDHC):c.364T>C (p.Phe122Leu) | 6391 | SDHC | Uncertain significance | 1553265808 | RCV000641912; | N | 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 | 1 | 161326589 | 161326589 | | | 1:g.161326589T>C | ClinGen:CA343456631 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.364T>G (p.Phe122Val) | 6391 | SDHC | Uncertain significance | 1553265808 | RCV001065186; | N | 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 | 1 | 161326589 | 161326589 | | | 1:g.161326589T>G | - | | | NM_003001.5(SDHC):c.366C>G (p.Phe122Leu) | 6391 | SDHC | Uncertain significance | 868596979 | RCV001245284; | N | 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 | 1 | 161326591 | 161326591 | | | 1:g.161326591C>G | - | | | NM_003001.5(SDHC):c.367C>T (p.Pro123Ser) | 6391 | SDHC | Uncertain significance | 773039986 | RCV001043735|RCV001759753|RCV002451169|RCV003473629; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161326592 | 161326592 | | | 1:g.161326592C>T | - | | | NM_003001.5(SDHC):c.367C>G (p.Pro123Ala) | 6391 | SDHC | Uncertain significance | 773039986 | RCV001343067; | N | 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 | 1 | 161326592 | 161326592 | | | 161326592 | - | | | NM_003001.5(SDHC):c.368C>T (p.Pro123Leu) | 6391 | SDHC | Uncertain significance | 1571890413 | RCV000814325; | N | 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 | 1 | 161326593 | 161326593 | | | 1:g.161326593C>T | - | | | NM_003001.5(SDHC):c.370C>G (p.Leu124Val) | 6391 | SDHC | Uncertain significance | 1571890420 | RCV000818867|RCV002345883; | N | 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:140162 | 1 | 161326595 | 161326595 | | | 1:g.161326595C>G | - | | | NM_003001.5(SDHC):c.370C>T (p.Leu124Phe) | 6391 | SDHC | Uncertain significance | 1571890420 | RCV001038823|RCV002348340; | N | 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:140162 | 1 | 161326595 | 161326595 | | | 1:g.161326595C>T | - | | | NM_003001.5(SDHC):c.372C>T (p.Leu124=) | 6391 | SDHC | Likely benign | 766007157 | RCV000536279|RCV001020989; | N | 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:140162 | 1 | 161326597 | 161326597 | | | | ClinGen:CA047069 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.372C>A (p.Leu124=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 766007157 | RCV000936784|RCV001020985|RCV001450268; | N | 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:606764, Orphanet:448 | 1 | 161326597 | 161326597 | | | | - | | | NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) | 6391 | SDHC | Pathogenic | 1553265817 | RCV000569757|RCV001386659; | N | 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:44890 | 1 | 161326598 | 161326613 | | | 1:g.161326598_161326613del | ClinGen:CA658656975 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.373A>G (p.Met125Val) | 6391 | SDHC | Uncertain significance | 771059368 | RCV001982704; | N | 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 | 1 | 161326598 | 161326598 | | | 161326598 | - | | | NM_003001.5(SDHC):c.374T>G (p.Met125Arg) | 6391 | SDHC | Pathogenic | 1060501387 | RCV000460952|RCV002348304; | N | 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:140162 | 1 | 161326599 | 161326599 | | | NC_000001.10:g.161326599T>G | ClinGen:CA16609904 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.374T>C (p.Met125Thr) | 6391 | SDHC | Uncertain significance | 1060501387 | RCV000471316; | N | 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 | 1 | 161326599 | 161326599 | | | NC_000001.10:g.161326599T>C | ClinGen:CA16609919 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.379C>T (p.His127Tyr) | 6391 | SDHC | Pathogenic | 1485675090 | RCV001036663|RCV002354978; | N | 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:140162 | 1 | 161326604 | 161326604 | | | 1:g.161326604C>T | - | | | NM_003001.5(SDHC):c.379C>A (p.His127Asn) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1485675090 | RCV001217901|RCV001751410; | N | 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:C3661900 | 1 | 161326604 | 161326604 | | | 1:g.161326604C>A | - | | | NM_003001.5(SDHC):c.379C>G (p.His127Asp) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1485675090 | RCV002223159|RCV002352956|RCV003101258; | N | MONDO: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:D | 1 | 161326604 | 161326604 | | | 161326604 | - | | | NM_003001.5(SDHC):c.380A>G (p.His127Arg) | 6391 | SDHC | Pathogenic/Likely pathogenic | 786203457 | RCV000166772|RCV000478217|RCV000641906|RCV001523820; | N | MONDO: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:290 | 1 | 161326605 | 161326605 | | | 1:g.161326605A>G | ClinGen:CA011435 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.381T>C (p.His127=) | 6391 | SDHC | Likely benign | 867566924 | RCV001421366|RCV003160688; | N | 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:140162 | 1 | 161326606 | 161326606 | | | | - | | | NM_003001.5(SDHC):c.384C>T (p.Thr128=) | 6391 | SDHC | Likely benign | 1553265821 | RCV000573492|RCV001468401; | N | 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:44890 | 1 | 161326609 | 161326609 | | | | ClinGen:CA421501104 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.385T>C (p.Trp129Arg) | 6391 | SDHC | Uncertain significance | 541278701 | RCV001930460; | N | 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 | 1 | 161326610 | 161326610 | | | 161326610 | - | | | NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) | 6391 | SDHC | Pathogenic | 1672294906 | RCV001257556|RCV001256199|RCV001879958; | N | Human 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:0 | 1 | 161326611 | 161326611 | | | 1:g.161326611G>A | - | | | NM_003001.5(SDHC):c.387G>C (p.Trp129Cys) | 6391 | SDHC | Uncertain significance | 981049067 | RCV000477028|RCV001770321; | N | 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:C3661900 | 1 | 161326612 | 161326612 | | | NC_000001.10:g.161326612G>C | ClinGen:CA16609905 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) | 6391 | SDHC | Pathogenic/Likely pathogenic | 981049067 | RCV000492239|RCV000986019|RCV001380749|RCV003476183; | N | MONDO: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:290 | 1 | 161326612 | 161326612 | | | 1:g.161326612G>A | ClinGen:CA31433613 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.390T>C (p.Asn130=) | 6391 | SDHC | Likely benign | 2102371399 | RCV002080934|RCV002372886; | N | 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:140162 | 1 | 161326615 | 161326615 | | | | - | | | NM_003001.5(SDHC):c.394A>G (p.Ile132Val) | 6391 | SDHC | Uncertain significance | 2102371416 | RCV001944308; | N | 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 | 1 | 161326619 | 161326619 | | | 161326619 | - | | | NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) | 6391 | SDHC | Pathogenic | 764575966 | RCV000162467|RCV000232178|RCV000315495|RCV000505285|RCV000660260|RCV001329019|RCV002505199|RCV003474842; | N | 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:29072|MedGen:C36619 | 1 | 161326622 | 161326622 | | | 1:g.161326622C>T | ClinGen:CA011426 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.398G>A (p.Arg133Gln) | 6391 | SDHC | Uncertain significance | 386833414 | RCV000034694|RCV000797358|RCV003473255; | N | 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|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D | 1 | 161326623 | 161326623 | | | 1:g.161326623G>A | ClinGen:CA011418 | CN517202 not provided; | | NM_003001.5(SDHC):c.402C>T (p.His134=) | 6391 | SDHC | Likely benign | 754213041 | RCV000167459|RCV001477241; | N | 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:29072 | 1 | 161326627 | 161326627 | | | | ClinGen:CA011411 | | | NM_003001.5(SDHC):c.403T>A (p.Leu135Met) | 6391 | SDHC | Uncertain significance | 1455783076 | RCV000641923|RCV003472033; | N | 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:D046152,MedGen:C0 | 1 | 161326628 | 161326628 | | | 1:g.161326628T>A | ClinGen:CA343456771 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.405+1del | 6391 | SDHC | Likely pathogenic | 1558182956 | RCV000691372; | N | 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 | 1 | 161326630 | 161326630 | | | 1:g.161326630_161326630del | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.405G>T (p.Leu135Phe) | 6391 | SDHC | Uncertain significance | 757663926 | RCV001202012; | N | 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 | 1 | 161326630 | 161326630 | | | 1:g.161326630G>T | - | | | NM_003001.5(SDHC):c.405+1G>T | 6391 | SDHC | Pathogenic | 587776653 | RCV000007664|RCV000574152|RCV000681938|RCV000641917; | N | MONDO: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:MOND | 1 | 161326631 | 161326631 | | | 1:g.161326631G>T | ClinGen:CA011403,OMIM:602413.0002 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.405+1G>C | 6391 | SDHC | Pathogenic | 587776653 | RCV000492714|RCV000641918; | N | 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:44890 | 1 | 161326631 | 161326631 | | | NC_000001.10:g.161326631G>C | ClinGen:CA343456782 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.405+7T>A | 6391 | SDHC | Likely benign | -1 | RCV002872072; | N | 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 | 1 | 161326637 | 161326637 | | | NC_000001.10:g.161326637T>A | - | | | NM_003001.5(SDHC):c.405+11T>G | 6391 | SDHC | Likely benign | 2102371559 | RCV002142569; | N | 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 | 1 | 161326641 | 161326641 | | | 161326641 | - | | | NM_003001.5(SDHC):c.405+12C>T | 6391 | SDHC | Likely benign | 575479448 | RCV002176737; | N | 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 | 1 | 161326642 | 161326642 | | | 161326642 | - | | | NM_003001.5(SDHC):c.405+12C>A | 6391 | SDHC | Likely benign | -1 | RCV003100481; | N | 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 | 1 | 161326642 | 161326642 | | | NC_000001.10:g.161326642C>A | - | | | NM_003001.5(SDHC):c.405+13G>A | 6391 | SDHC | Benign/Likely benign | 369274171 | RCV000610382|RCV001860314|RCV002255474|RCV003117404|RCV002498941; | N | MedGen: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:1401 | 1 | 161326643 | 161326643 | | | 1:g.161326643G>A | ClinGen:CA046986 | CN169374 not specified; | | NM_003001.5(SDHC):c.405+13G>T | 6391 | SDHC | Likely benign | -1 | RCV002838153; | N | 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 | 1 | 161326643 | 161326643 | | | NC_000001.10:g.161326643G>T | - | | | NM_003001.5(SDHC):c.405+15G>A | 6391 | SDHC | Likely benign | 768628609 | RCV002167710; | N | 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 | 1 | 161326645 | 161326645 | | | 161326645 | - | | | NM_003001.5(SDHC):c.405+16A>C | 6391 | SDHC | Likely benign | 2102371614 | RCV002109652; | N | 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 | 1 | 161326646 | 161326646 | | | 161326646 | - | | | NM_003001.5(SDHC):c.405+18T>C | 6391 | SDHC | Likely benign | -1 | RCV002852962; | N | 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 | 1 | 161326648 | 161326648 | | | NC_000001.10:g.161326648T>C | - | | | NM_003001.5(SDHC):c.405+23C>T | 6391 | SDHC | Conflicting interpretations of pathogenicity | 373731336 | RCV000225956|RCV000454948|RCV000663302|RCV001589184|RCV002257547; | N | 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:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161326653 | 161326653 | | | 1:g.161326653C>T | ClinGen:CA046964 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.406-10T>G | 6391 | SDHC | Likely benign | 1060504225 | RCV001450601; | N | 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 | 1 | 161332109 | 161332109 | | | NC_000001.10:g.161332109T>G | ClinGen:CA16609923 | C0238198 606764 Gastrointestinal stroma tumor; | | NC_000001.10:g.(?_161332109)_(161332308_?)dup | 6391 | SDHC | Uncertain significance | -1 | RCV001343954; | N | 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 | 1 | 161332109 | 161332308 | | | -1 | - | | | NC_000001.10:g.(?_161332109)_(161332308_?)del | 6391 | SDHC | Pathogenic | -1 | RCV001390571; | N | 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 | 1 | 161332109 | 161332308 | | | -1 | - | | | NM_003001.5(SDHC):c.406-10T>C | 6391 | SDHC | Likely benign | 1060504225 | RCV001415433; | N | 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 | 1 | 161332109 | 161332109 | | | 161332109 | - | | | NM_003001.5(SDHC):c.406-8G>T | 6391 | SDHC | Benign/Likely benign | 747093483 | RCV000460764|RCV001000446; | N | 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:CN169374 | 1 | 161332111 | 161332111 | | | 1:g.161332111G>T | ClinGen:CA047318 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.406-8G>A | 6391 | SDHC | Likely benign | 747093483 | RCV001448492; | N | 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 | 1 | 161332111 | 161332111 | | | 161332111 | - | | | NM_003001.5(SDHC):c.406-7T>C | 6391 | SDHC | Likely benign | 1672546572 | RCV002208944; | N | 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 | 1 | 161332112 | 161332112 | | | 161332112 | - | | | NM_003001.5(SDHC):c.406-6C>G | 6391 | SDHC | Uncertain significance | 1337338303 | RCV000700438; | N | 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 | 1 | 161332113 | 161332113 | | | 1:g.161332113C>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.406-5C>T | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1442391429 | RCV001021790|RCV002067643; | N | 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:44890 | 1 | 161332114 | 161332114 | | | 1:g.161332114C>T | - | | | NM_003001.5(SDHC):c.406-3C>T | 6391 | SDHC | Uncertain significance | 372490900 | RCV000556917|RCV001021784; | N | 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:140162 | 1 | 161332116 | 161332116 | | | 1:g.161332116C>T | ClinGen:CA658656976 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.406-2A>C | 6391 | SDHC | Uncertain significance | -1 | RCV003043796; | N | 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 | 1 | 161332117 | 161332117 | | | NC_000001.10:g.161332117A>C | - | | | NM_003001.5(SDHC):c.406-1G>A | 6391 | SDHC | Likely pathogenic | -1 | RCV003316923; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161332118 | 161332118 | | | | - | | | NM_003001.5(SDHC):c.406A>C (p.Met136Leu) | 6391 | SDHC | Uncertain significance | 1486341484 | RCV001233276; | N | 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 | 1 | 161332119 | 161332119 | | | 1:g.161332119A>C | - | | | NM_003001.5(SDHC):c.409T>C (p.Trp137Arg) | 6391 | SDHC | Uncertain significance | 890210469 | RCV001960396; | N | 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 | 1 | 161332122 | 161332122 | | | 161332122 | - | | | NM_003001.5(SDHC):c.410G>T (p.Trp137Leu) | 6391 | SDHC | Uncertain significance | 1060501385 | RCV000476432; | N | 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 | 1 | 161332123 | 161332123 | | | NC_000001.10:g.161332123G>T | ClinGen:CA16609906 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.420A>G (p.Gly140=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 794727791 | RCV000179415|RCV000724433|RCV001088510|RCV002326977; | N | MedGen: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:C00276 | 1 | 161332133 | 161332133 | | | | ClinGen:CA011462 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.422A>G (p.Lys141Arg) | 6391 | SDHC | Uncertain significance | 1558185879 | RCV000691205|RCV002332428|RCV002510957; | N | 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:140162|MedGen:C36619 | 1 | 161332135 | 161332135 | | | 1:g.161332135A>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1672548902 | RCV001047447|RCV003455196; | N | 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:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161332135 | 161332136 | | | 1:g.161332135_161332136insT | - | | | NM_003001.5(SDHC):c.423A>G (p.Lys141=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 2102385065 | RCV001441045|RCV002329495; | N | 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:140162 | 1 | 161332136 | 161332136 | | | | - | | | NM_003001.5(SDHC):c.424G>T (p.Gly142Cys) | 6391 | SDHC | Uncertain significance | 2102385085 | RCV001960298; | N | 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 | 1 | 161332137 | 161332137 | | | 161332137 | - | | | NM_003001.5(SDHC):c.431A>C (p.Lys144Thr) | 6391 | SDHC | Uncertain significance | 876659889 | RCV000216420|RCV001294622|RCV003475025; | N | 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:29072|Human Phenoty | 1 | 161332144 | 161332144 | | | 1:g.161332144A>C | ClinGen:CA10577667 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.432G>T (p.Lys144Asn) | 6391 | SDHC | Uncertain significance | 1366410028 | RCV000528674|RCV003476280; | N | 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|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0 | 1 | 161332145 | 161332145 | | | 1:g.161332145G>T | ClinGen:CA343457654 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.434T>C (p.Ile145Thr) | 6391 | SDHC | Uncertain significance | 1553266487 | RCV000569117|RCV000641910; | N | 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:44890 | 1 | 161332147 | 161332147 | | | 1:g.161332147T>C | ClinGen:CA343457669 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.435T>G (p.Ile145Met) | 6391 | SDHC | Uncertain significance | -1 | RCV002332346|RCV003094659; | N | 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:44890 | 1 | 161332148 | 161332148 | | | 161332148 | - | | | NM_003001.5(SDHC):c.435T>A (p.Ile145=) | 6391 | SDHC | Likely benign | -1 | RCV002875583; | N | 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 | 1 | 161332148 | 161332148 | | | | - | | | NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) | 6391 | SDHC | Uncertain significance | 541660851 | RCV000132372|RCV000534423|RCV002254682|RCV002483272|RCV003474790; | N | 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:44890|MONDO:MONDO:0 | 1 | 161332149 | 161332149 | | | 1:g.161332149C>A | ClinGen:CA016343 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.438C>A (p.Pro146=) | 6391 | SDHC | Likely benign | 1418513098 | RCV002151142|RCV002331815; | N | 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:140162 | 1 | 161332151 | 161332151 | | | | - | | | NM_003001.5(SDHC):c.444A>C (p.Leu148=) | 6391 | SDHC | Likely benign | 377230417 | RCV000878076|RCV001084939|RCV002332849; | N | 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:C0027672, Orphanet:1401 | 1 | 161332157 | 161332157 | | | | - | | | NM_003001.5(SDHC):c.444A>G (p.Leu148=) | 6391 | SDHC | Likely benign | 377230417 | RCV001399429; | N | 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 | 1 | 161332157 | 161332157 | | | | - | | | NM_003001.5(SDHC):c.445T>C (p.Tyr149His) | 6391 | SDHC | Uncertain significance | 2102385345 | RCV001369437|RCV002329383; | N | 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:140162 | 1 | 161332158 | 161332158 | | | 161332158 | - | | | NM_003001.5(SDHC):c.448C>A (p.Gln150Lys) | 6391 | SDHC | Uncertain significance | 773142195 | RCV001879733; | N | 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 | 1 | 161332161 | 161332161 | | | 161332161 | - | | | NM_003001.5(SDHC):c.450G>A (p.Gln150=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 749159544 | RCV000872176|RCV001022609|RCV003411858|RCV003227874; | N | 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:140162||MedGen:C3661 | 1 | 161332163 | 161332163 | | | | - | | | NM_003001.5(SDHC):c.451T>C (p.Ser151Pro) | 6391 | SDHC | Uncertain significance | 1558185927 | RCV000693159|RCV002334302; | N | 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:140162 | 1 | 161332164 | 161332164 | | | NC_000001.10:g.161332164T>C | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1571899020 | RCV001022642|RCV001862225; | N | 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:44890 | 1 | 161332165 | 161332165 | | | 1:g.161332165C>A | - | | | NM_003001.5(SDHC):c.452C>G (p.Ser151Cys) | 6391 | SDHC | Uncertain significance | -1 | RCV002340037|RCV003102596; | N | 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:29072 | 1 | 161332165 | 161332165 | | | 161332165 | - | | | NM_003001.5(SDHC):c.453T>C (p.Ser151=) | 6391 | SDHC | Likely benign | 2102385466 | RCV002097551; | N | 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 | 1 | 161332166 | 161332166 | | | | - | | | NM_003001.5(SDHC):c.454G>A (p.Gly152Arg) | 6391 | SDHC | Uncertain significance | 1558185932 | RCV000694289|RCV002332445; | N | 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:140162 | 1 | 161332167 | 161332167 | | | NC_000001.10:g.161332167G>A | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.455G>T (p.Gly152Val) | 6391 | SDHC | Uncertain significance | 1060501386 | RCV000462009; | N | 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 | 1 | 161332168 | 161332168 | | | NC_000001.10:g.161332168G>T | ClinGen:CA16609925 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.455G>A (p.Gly152Glu) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1060501386 | RCV001022697|RCV001862227; | N | 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:44890 | 1 | 161332168 | 161332168 | | | 1:g.161332168G>A | - | | | NM_003001.5(SDHC):c.456A>C (p.Gly152=) | 6391 | SDHC | Likely benign | 886251473 | RCV002207016|RCV002337227; | N | 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:140162 | 1 | 161332169 | 161332169 | | | | - | | | NM_003001.5(SDHC):c.457G>T (p.Val153Leu) | 6391 | SDHC | Uncertain significance | -1 | RCV002303941; | N | 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 | 1 | 161332170 | 161332170 | | | 161332170 | - | | | NM_003001.5(SDHC):c.457G>A (p.Val153Met) | 6391 | SDHC | Uncertain significance | -1 | RCV003073322|RCV003324863|RCV003294489; | N | 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:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401 | 1 | 161332170 | 161332170 | | | NC_000001.10:g.161332170G>A | - | | | NM_003001.5(SDHC):c.460del (p.Val154fs) | 6391 | SDHC | Uncertain significance | 786201665 | RCV000164065|RCV001850290; | N | 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:44890 | 1 | 161332172 | 161332172 | | | 1:g.161332172_161332172del | ClinGen:CA016362 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.460G>C (p.Val154Leu) | 6391 | SDHC | Uncertain significance | -1 | RCV002342446|RCV003094789; | N | 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:29072 | 1 | 161332173 | 161332173 | | | 161332173 | - | | | NM_003001.5(SDHC):c.461T>C (p.Val154Ala) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1378160712 | RCV000641908|RCV002334116; | N | 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:140162 | 1 | 161332174 | 161332174 | | | 1:g.161332174T>C | ClinGen:CA343457806 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.462T>C (p.Val154=) | 6391 | SDHC | Likely benign | 2102385569 | RCV001486926|RCV003160967; | N | 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:140162 | 1 | 161332175 | 161332175 | | | | - | | | NM_003001.5(SDHC):c.464T>C (p.Val155Ala) | 6391 | SDHC | Uncertain significance | 1672552536 | RCV001050805|RCV002327303; | N | 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:140162 | 1 | 161332177 | 161332177 | | | 1:g.161332177T>C | - | | | NM_003001.5(SDHC):c.465C>G (p.Val155=) | 6391 | SDHC | Likely benign | 1060504223 | RCV001483274; | N | 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 | 1 | 161332178 | 161332178 | | | | ClinGen:CA16609922 | | | NM_003001.5(SDHC):c.466C>T (p.Leu156=) | 6391 | SDHC | Likely benign | 1553266500 | RCV000549351; | N | 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 | 1 | 161332179 | 161332179 | | | | ClinGen:CA343457831 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.469G>A (p.Val157Ile) | 6391 | SDHC | Uncertain significance | -1 | RCV002335284|RCV003102617; | N | 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:29072 | 1 | 161332182 | 161332182 | | | 161332182 | - | | | NM_003001.5(SDHC):c.474_477del (p.Thr159fs) | 6391 | SDHC | Uncertain significance | -1 | RCV003041801; | N | 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 | 1 | 161332185 | 161332188 | | | NC_000001.10:g.161332187_161332190del | - | | | NM_003001.5(SDHC):c.473T>C (p.Leu158Pro) | 6391 | SDHC | Uncertain significance | -1 | RCV002466815|RCV002571402; | N | MONDO: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 | 1 | 161332186 | 161332186 | | | NC_000001.10:g.161332186T>C | - | | | NM_003001.5(SDHC):c.474T>G (p.Leu158=) | 6391 | SDHC | Likely benign | 2102385657 | RCV002197895; | N | 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 | 1 | 161332187 | 161332187 | | | | - | | | NM_003001.5(SDHC):c.475A>C (p.Thr159Pro) | 6391 | SDHC | Uncertain significance | 2102385668 | RCV001895358; | N | 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 | 1 | 161332188 | 161332188 | | | 161332188 | - | | | NM_003001.5(SDHC):c.476C>T (p.Thr159Ile) | 6391 | SDHC | Uncertain significance | 773923942 | RCV000694799|RCV002334309; | N | 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:140162 | 1 | 161332189 | 161332189 | | | NC_000001.10:g.161332189C>T | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.477T>C (p.Thr159=) | 6391 | SDHC | Likely benign | 759055559 | RCV001023032|RCV001460097; | N | 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:44890 | 1 | 161332190 | 161332190 | | | | - | | | NM_003001.5(SDHC):c.477T>A (p.Thr159=) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 759055559 | RCV001371887|RCV002329394; | N | 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:140162 | 1 | 161332190 | 161332190 | | | | - | | | NM_003001.5(SDHC):c.478G>A (p.Val160Met) | 6391 | SDHC | Uncertain significance | 1553266502 | RCV000527739|RCV002341335; | N | 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:140162 | 1 | 161332191 | 161332191 | | | NC_000001.10:g.161332191G>A | ClinGen:CA343457881 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.485C>G (p.Ser162Cys) | 6391 | SDHC | Uncertain significance | 1553266504 | RCV000561621|RCV001325105; | N | 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:44890 | 1 | 161332198 | 161332198 | | | 1:g.161332198C>G | ClinGen:CA343457916 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.485C>T (p.Ser162Phe) | 6391 | SDHC | Uncertain significance | 1553266504 | RCV001305405; | N | 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 | 1 | 161332198 | 161332198 | | | 161332198 | - | | | NM_003001.5(SDHC):c.486C>T (p.Ser162=) | 6391 | SDHC | Likely benign | 2102385816 | RCV001400318|RCV002341858; | N | 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:140162 | 1 | 161332199 | 161332199 | | | | - | | | NM_003001.5(SDHC):c.487T>C (p.Ser163Pro) | 6391 | SDHC | Uncertain significance | 1553266506 | RCV000566644|RCV001206983; | N | 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:44890 | 1 | 161332200 | 161332200 | | | 1:g.161332200T>C | ClinGen:CA343457924 | C0027672 Hereditary cancer-predisposing syndrome; | | NM_003001.5(SDHC):c.489T>C (p.Ser163=) | 6391 | SDHC | Benign/Likely benign | 559747670 | RCV000355295|RCV000828442|RCV001078649|RCV002338872; | N | MONDO: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:MONDO | 1 | 161332202 | 161332202 | | | | ClinGen:CA047553 | C0031511 171300 Pheochromocytoma; | | NM_003001.5(SDHC):c.490A>T (p.Met164Leu) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 200375156 | RCV000163312|RCV000226413|RCV000454468|RCV001095934|RCV001083551|RCV001269363|RCV003153438; | N | MONDO: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: | 1 | 161332203 | 161332203 | | | 1:g.161332203A>T | ClinGen:CA016373 | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.490A>G (p.Met164Val) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 200375156 | RCV000691008|RCV001023247; | N | 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:140162 | 1 | 161332203 | 161332203 | | | 1:g.161332203A>G | - | C0238198 606764 Gastrointestinal stroma tumor; | | NM_003001.5(SDHC):c.491T>C (p.Met164Thr) | 6391 | SDHC | Uncertain significance | -1 | RCV002608832; | N | 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 | 1 | 161332204 | 161332204 | | | NC_000001.10:g.161332204T>C | - | | | NM_003001.5(SDHC):c.495G>A (p.Gly165=) | 6391 | SDHC | Likely benign | 2102385878 | RCV001416733|RCV003298696; | N | 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:140162 | 1 | 161332208 | 161332208 | | | | - | | | NM_003001.5(SDHC):c.495G>T (p.Gly165=) | 6391 | SDHC | Likely benign | 2102385878 | RCV002108599; | N | 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 | 1 | 161332208 | 161332208 | | | | - | | | NM_003001.5(SDHC):c.496C>T (p.Leu166=) | 6391 | SDHC | Likely benign | 2102385898 | RCV001456076|RCV002350919; | N | 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:140162 | 1 | 161332209 | 161332209 | | | | - | | | NM_003001.5(SDHC):c.497T>G (p.Leu166Arg) | 6391 | SDHC | Conflicting interpretations of pathogenicity | 1571899223 | RCV000823450|RCV002345910; | N | 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:140162 | 1 | 161332210 | 161332210 | | | 1:g.161332210T>G | - | | | NM_003001.5(SDHC):c.502G>A (p.Ala168Thr) | 6391 | SDHC | Uncertain significance | 1672554961 | RCV001225080|RCV003294076; | N | 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:140162 | 1 | 161332215 | 161332215 | | | 1:g.161332215G>A | - | | | NM_003001.5(SDHC):c.504C>T (p.Ala168=) | 6391 | SDHC | Likely benign | 1571899229 | RCV001496773|RCV003307776; | N | 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:140162 | 1 | 161332217 | 161332217 | | | | - | | | NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe) | 6391 | SDHC | Uncertain significance | 1571899249 | RCV000800585; | N | 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 | 1 | 161332218 | 161332220 | | | NC_000001.10:g.161332218_161332220delinsTTT | - | | | NM_003001.5(SDHC):c.508T>C (p.Ter170Arg) | 6391 | SDHC | Uncertain significance | 1672555380 | RCV001064449; | N | 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 | 1 | 161332221 | 161332221 | | | 1:g.161332221T>C | - | | | NM_003001.5(SDHC):c.*20T>G | 6391 | SDHC | Uncertain significance | 587778662 | RCV000122005|RCV000410848; | N | MedGen:CN169374|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161332243 | 161332243 | | | 1:g.161332243T>G | ClinGen:CA011468 | CN169374 not specified; | | NM_003001.5(SDHC):c.*84G>C | 6391 | SDHC | Conflicting interpretations of pathogenicity | 201210474 | RCV000034692|RCV000122004|RCV000203076|RCV000211525|RCV001093726|RCV001522524|RCV002256015; | N | MedGen: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:MO | 1 | 161332307 | 161332307 | | | 1:g.161332307G>C | ClinGen:CA011488 | CN517202 not provided; | | NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA | 6391 | SDHC | Pathogenic | -1 | RCV000007665; | N | MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072 | 1 | 161336986 | 161339990 | | | NC_000001.10:g.161336986_161339990delinsGTCA | OMIM:602413.0003 | C1854336 605373 Paragangliomas 3; | | NC_000001.10:g.(?_130980840)_(248900000_?)dup | -1 | subset of 958 genes: AKT3:ASH1L:CDC73:CHRM3:FH:FLG | Uncertain significance | -1 | RCV001300221|RCV001341077; | N | 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|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:6 | 1 | 130980840 | 248900000 | | | -1 | - | | |
| MSeqDR Portal | |
|