Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_004168.3(SDHA):c.-115T>C | 6389 | SDHA | Likely benign | 2303741 | RCV000313041|RCV000338764|RCV000400671; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072 | 5 | 218356 | 218356 | | | NC_000005.9:g.218356T>C | ClinGen:CA10624324 | C0023264 256000 Leigh syndrome; | |
NM_004168.3(SDHA):c.-84dup | 6389 | SDHA | Likely benign | 35805262 | RCV000307350|RCV000370159|RCV000399941; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218381 | 218382 | | | NC_000005.9:g.218387dup | ClinGen:CA10621606 | C0023264 256000 Leigh syndrome; | |
NM_004168.3(SDHA):c.-63G>A | 6389 | SDHA | Uncertain significance | 886060513 | RCV000272151|RCV000329506|RCV000364389; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072 | 5 | 218408 | 218408 | | | NC_000005.9:g.218408G>A | ClinGen:CA10621607 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.-7A>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 751633537 | RCV000411889|RCV000425129|RCV000649475|RCV000756629|RCV001151933|RCV001151931|RCV001151932|RCV002255377; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C00232 | 5 | 218464 | 218464 | | | NC_000005.9:g.218464A>C | ClinGen:CA3172666 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.-4A>G | 6389 | SDHA | Benign/Likely benign | 377134185 | RCV000251091|RCV000266213|RCV000358590|RCV000323529|RCV000572973; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016 | 5 | 218467 | 218467 | | | NC_000005.9:g.218467A>G | ClinGen:CA3172670 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.-2A>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 763680697 | RCV000564955|RCV001153196|RCV001151934|RCV001153197|RCV003139877; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:C366190 | 5 | 218469 | 218469 | | | 5:g.218469A>T | ClinGen:CA3172671 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.-1C>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 560932680 | RCV000279041|RCV000317717|RCV000380480|RCV001013984|RCV003137969; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190 | 5 | 218470 | 218470 | | | NC_000005.9:g.218470C>T | ClinGen:CA3172673 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) | 6389 | SDHA | Pathogenic | 1061517 | RCV000009283|RCV001233940|RCV002415407|RCV003450622|RCV003234897; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M | 5 | 218471 | 218471 | | | 5:g.218471A>C | ClinGen:CA119881,OMIM:600857.0003 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1A>G (p.Met1Val) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1061517 | RCV000230468|RCV000567727|RCV000579224|RCV000656497; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 218471 | 218471 | | | NC_000005.9:g.218471A>G | ClinGen:CA3172674 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1061517 | RCV000410820|RCV001041479|RCV002418229|RCV003237835; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 218471 | 218471 | | | NC_000005.9:g.218471A>T | ClinGen:CA16042099 | C3279992 614165 Paragangliomas 5; | |
NM_004168.4(SDHA):c.1del (p.Met1fs) | 6389 | SDHA | Pathogenic | 1085307796 | RCV000490141|RCV001046092; | N | MedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218471 | 218471 | | | NC_000005.9:g.218471del | ClinGen:CA645293865 | | |
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer) | 6389 | SDHA | Uncertain significance | -1 | RCV003040638; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218471 | 218472 | | | NC_000005.9:g.218477_218494dup | - | | |
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) | 6389 | SDHA | Pathogenic/Likely pathogenic | 750380279 | RCV000462474|RCV000662887|RCV001017951; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218472 | 218472 | | | NC_000005.9:g.218472T>C | ClinGen:CA16611812 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) | 6389 | SDHA | Pathogenic/Likely pathogenic | 750380279 | RCV000478025|RCV000649438|RCV001257552|RCV002438178|RCV002506172; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412, Orphanet:780|MONDO:MONDO:00 | 5 | 218472 | 218472 | | | 5:g.218472T>G | ClinGen:CA16618195 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.2T>A (p.Met1Lys) | 6389 | SDHA | Pathogenic | 750380279 | RCV000706101|RCV002440542|RCV003148837; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218472 | 218472 | | | 5:g.218472T>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.3G>C (p.Met1Ile) | 6389 | SDHA | Pathogenic | 2126522051 | RCV001962939; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218473 | 218473 | | | 218473 | - | | |
NM_004168.4(SDHA):c.3G>T (p.Met1Ile) | 6389 | SDHA | Pathogenic | 2126522051 | RCV001930243|RCV003167128; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218473 | 218473 | | | 218473 | - | | |
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro) | 6389 | SDHA | Uncertain significance | 758327622 | RCV001954520; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218474 | 218474 | | | 218474 | - | | |
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala) | 6389 | SDHA | Uncertain significance | 758327622 | RCV001902064; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218474 | 218474 | | | 218474 | - | | |
NM_004168.4(SDHA):c.5dup (p.Val4fs) | 6389 | SDHA | Pathogenic | -1 | RCV002357983|RCV003098098; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218474 | 218475 | | | 218474 | - | | |
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 780064103 | RCV000473246|RCV000569083|RCV001153199|RCV001153200|RCV001153198|RCV003225073; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MO | 5 | 218475 | 218475 | | | NC_000005.9:g.218475C>T | ClinGen:CA3172677 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) | 6389 | SDHA | Pathogenic | 780064103 | RCV000797937; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218475 | 218475 | | | 5:g.218475C>A | - | | |
NM_004168.4(SDHA):c.6G>A (p.Ser2=) | 6389 | SDHA | Likely benign | 751383247 | RCV000976847|RCV002363492; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218476 | 218476 | | | 5:g.218476G>A | - | | |
NM_004168.4(SDHA):c.6G>C (p.Ser2=) | 6389 | SDHA | Likely benign | 751383247 | RCV001025905|RCV001446069; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218476 | 218476 | | | 5:g.218476G>C | - | | |
NM_004168.4(SDHA):c.6G>T (p.Ser2=) | 6389 | SDHA | Likely benign | 751383247 | RCV001025906|RCV002069027; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218476 | 218476 | | | 5:g.218476G>T | - | | |
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg) | 6389 | SDHA | Uncertain significance | 756415935 | RCV001064968|RCV002418534; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218477 | 218477 | | | 5:g.218477G>C | - | | |
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp) | 6389 | SDHA | Uncertain significance | 756415935 | RCV001350608; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218477 | 218477 | | | 218477 | - | | |
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala) | 6389 | SDHA | Uncertain significance | 1398198098 | RCV000703530|RCV002369948; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218478 | 218478 | | | 5:g.218478G>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.9G>T (p.Gly3=) | 6389 | SDHA | Likely benign | 1252447154 | RCV000570635|RCV000873441; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218479 | 218479 | | | 5:g.218479G>T | ClinGen:CA442689528 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.9G>C (p.Gly3=) | 6389 | SDHA | Likely benign | 1252447154 | RCV001462291|RCV003160874; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218479 | 218479 | | | 218479 | - | | |
NM_004168.4(SDHA):c.9G>A (p.Gly3=) | 6389 | SDHA | Likely benign | -1 | RCV002383152|RCV003094918; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218479 | 218479 | | | | - | | |
NM_004168.4(SDHA):c.10G>T (p.Val4Phe) | 6389 | SDHA | Uncertain significance | 778069799 | RCV001017300|RCV001873289; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218480 | 218480 | | | 5:g.218480G>T | - | | |
NM_004168.4(SDHA):c.10G>A (p.Val4Ile) | 6389 | SDHA | Uncertain significance | 778069799 | RCV001243739|RCV002430036|RCV003473824; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 218480 | 218480 | | | 5:g.218480G>A | - | | |
NM_004168.4(SDHA):c.12C>T (p.Val4=) | 6389 | SDHA | Likely benign | 749406988 | RCV000468506|RCV002383905; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218482 | 218482 | | | NC_000005.9:g.218482C>T | ClinGen:CA3172681 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) | 6389 | SDHA | Uncertain significance | 770866830 | RCV000473159|RCV001011369|RCV002506135|RCV003226934; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 218483 | 218483 | | | NC_000005.9:g.218483C>T | ClinGen:CA16612037 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly) | 6389 | SDHA | Uncertain significance | 770866830 | RCV001241674|RCV002393625; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218483 | 218483 | | | 5:g.218483C>G | - | | |
NM_004168.4(SDHA):c.13C>A (p.Arg5=) | 6389 | SDHA | Likely benign | 770866830 | RCV001464905|RCV002396097; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218483 | 218483 | | | 218483 | - | | |
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln) | 6389 | SDHA | Uncertain significance | 779027774 | RCV000691271|RCV002388232|RCV002499232; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 218484 | 218484 | | | NC_000005.9:g.218484G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.15G>A (p.Arg5=) | 6389 | SDHA | Likely benign | 1260744894 | RCV002190206; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218485 | 218485 | | | 218485 | - | | |
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser) | 6389 | SDHA | Uncertain significance | 1352756438 | RCV001220326; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218486 | 218486 | | | 5:g.218486G>A | - | | |
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1352756438 | RCV001893473|RCV002397867; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218486 | 218486 | | | 218486 | - | | |
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 187964306 | RCV000216190|RCV000224380|RCV000282383|RCV000374489|RCV000411625|RCV000349064|RCV000573807|RCV001080211; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:2560 | 5 | 218487 | 218487 | | | NC_000005.9:g.218487G>A | ClinGen:CA358571 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 187964306 | RCV001068961|RCV002411605; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218487 | 218487 | | | 5:g.218487G>C | - | | |
NM_004168.4(SDHA):c.17G>T (p.Gly6Val) | 6389 | SDHA | Uncertain significance | 187964306 | RCV001053064|RCV002409443; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218487 | 218487 | | | 5:g.218487G>T | - | | |
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs) | 6389 | SDHA | Pathogenic | -1 | RCV002881583; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218487 | 218488 | | | NC_000005.9:g.218487_218488insA | - | | |
NM_004168.4(SDHA):c.18C>A (p.Gly6=) | 6389 | SDHA | Likely benign | 775847689 | RCV000556103|RCV002413608; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218488 | 218488 | | | NC_000005.9:g.218488C>A | ClinGen:CA442689535 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.18C>T (p.Gly6=) | 6389 | SDHA | Likely benign | 775847689 | RCV000701813|RCV001013607; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218488 | 218488 | | | NC_000005.9:g.218488C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.19C>T (p.Leu7=) | 6389 | SDHA | Likely benign | 760964443 | RCV000943379|RCV001013999; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218489 | 218489 | | | 5:g.218489C>T | - | | |
NM_004168.4(SDHA):c.19C>G (p.Leu7Val) | 6389 | SDHA | Uncertain significance | 760964443 | RCV001039293; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218489 | 218489 | | | 5:g.218489C>G | - | | |
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro) | 6389 | SDHA | Uncertain significance | 1734500083 | RCV001216867|RCV002418744; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218490 | 218490 | | | 5:g.218490T>C | - | | |
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro) | 6389 | SDHA | Uncertain significance | 768328967 | RCV001041680; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218492 | 218492 | | | 5:g.218492T>C | - | | |
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp) | 6389 | SDHA | Uncertain significance | 878854631 | RCV000228753|RCV001762532|RCV002444900|RCV003475075; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 218493 | 218493 | | | 5:g.218493C>G | ClinGen:CA10582417 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu) | 6389 | SDHA | Uncertain significance | 878854631 | RCV001970237|RCV003339859; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218493 | 218493 | | | 218493 | - | | |
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter) | 6389 | SDHA | Pathogenic | 878854631 | RCV001993135|RCV003303493; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218493 | 218493 | | | 218493 | - | | |
NM_004168.4(SDHA):c.24G>C (p.Ser8=) | 6389 | SDHA | Likely benign | 1060505007 | RCV000573332|RCV001429572; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218494 | 218494 | | | NC_000005.9:g.218494G>C | ClinGen:CA16611815 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly) | 6389 | SDHA | Uncertain significance | 776218604 | RCV000649459|RCV003303065; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218495 | 218495 | | | NC_000005.9:g.218495C>G | ClinGen:CA359007301 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp) | 6389 | SDHA | Uncertain significance | 776218604 | RCV001225154; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218495 | 218495 | | | 5:g.218495C>T | - | | |
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln) | 6389 | SDHA | Uncertain significance | 761508577 | RCV000691725; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218496 | 218496 | | | NC_000005.9:g.218496G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu) | 6389 | SDHA | Uncertain significance | 761508577 | RCV001041332; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218496 | 218496 | | | 5:g.218496G>T | - | | |
NM_004168.4(SDHA):c.27G>A (p.Arg9=) | 6389 | SDHA | Likely benign | 2126522501 | RCV002112961|RCV002434494; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218497 | 218497 | | | 218497 | - | | |
NM_004168.4(SDHA):c.28del (p.Leu10fs) | 6389 | SDHA | Pathogenic | 1579369841 | RCV000810724; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218498 | 218498 | | | 5:g.218498_218498del | - | | |
NM_004168.4(SDHA):c.28C>T (p.Leu10=) | 6389 | SDHA | Likely benign | 879099314 | RCV001452779; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218498 | 218498 | | | 218498 | - | | |
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro) | 6389 | SDHA | Uncertain significance | 2126522536 | RCV001901686; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218499 | 218499 | | | 218499 | - | | |
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln) | 6389 | SDHA | Uncertain significance | 1139422 | RCV001054132; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218502 | 218502 | | | 5:g.218502T>A | - | | |
NM_004168.4(SDHA):c.33G>T (p.Leu11=) | 6389 | SDHA | Likely benign | 1139423 | RCV002169794|RCV002454347; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218503 | 218503 | | | 218503 | - | | |
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly) | 6389 | SDHA | Uncertain significance | 1734501874 | RCV001213050|RCV002451462; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218504 | 218504 | | | 5:g.218504A>G | - | | |
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg) | 6389 | SDHA | Uncertain significance | 1734502045 | RCV001036917; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218506 | 218506 | | | 5:g.218506C>A | - | | |
NM_004168.4(SDHA):c.39T>C (p.Ala13=) | 6389 | SDHA | Likely benign | 2126522607 | RCV001417596|RCV003298700; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218509 | 218509 | | | 218509 | - | | |
NM_004168.4(SDHA):c.40C>A (p.Arg14=) | 6389 | SDHA | Likely benign | 1192077362 | RCV000549482|RCV001021865; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218510 | 218510 | | | NC_000005.9:g.218510C>A | ClinGen:CA442689557 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1560980939 | RCV000696009|RCV003128647; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN517202 | 5 | 218510 | 218511 | | | 5:g.218510_218511insGGCGCCT | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp) | 6389 | SDHA | Uncertain significance | 1192077362 | RCV001221686|RCV002322073|RCV002484205; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 218510 | 218510 | | | 5:g.218510C>T | - | | |
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly) | 6389 | SDHA | Uncertain significance | 1192077362 | RCV001248215|RCV002322164; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218510 | 218510 | | | 5:g.218510C>G | - | | |
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro) | 6389 | SDHA | Uncertain significance | 1060503707 | RCV000470530|RCV002255398; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218514 | 218514 | | | NC_000005.9:g.218514G>C | ClinGen:CA16611820 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu) | 6389 | SDHA | Uncertain significance | -1 | RCV002305344; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218514 | 218514 | | | 218514 | - | | |
NM_004168.4(SDHA):c.45C>T (p.Arg15=) | 6389 | SDHA | Likely benign | 1060505002 | RCV001478123|RCV002341121; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218515 | 218515 | | | NC_000005.9:g.218515C>T | ClinGen:CA16612038 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.46C>T (p.Leu16=) | 6389 | SDHA | Likely benign | 1579369903 | RCV000921727; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218516 | 218516 | | | 5:g.218516C>T | - | | |
NM_004168.4(SDHA):c.48G>A (p.Leu16=) | 6389 | SDHA | Likely benign | 2126522691 | RCV002040196; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218518 | 218518 | | | 218518 | - | | |
NM_004168.4(SDHA):c.48G>C (p.Leu16=) | 6389 | SDHA | Likely benign | 2126522691 | RCV002139955|RCV002337357; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218518 | 218518 | | | 218518 | - | | |
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV002592748; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218519 | 218519 | | | NC_000005.9:g.218519G>A | - | | |
NM_004168.4(SDHA):c.51G>A (p.Ala17=) | 6389 | SDHA | Likely benign | 764698195 | RCV001023712|RCV001082535|RCV002501254; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:001 | 5 | 218521 | 218521 | | | 5:g.218521G>A | - | | |
NM_004168.4(SDHA):c.52C>G (p.Leu18Val) | 6389 | SDHA | Uncertain significance | 1553996372 | RCV000572314|RCV001204645; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218522 | 218522 | | | 5:g.218522C>G | ClinGen:CA359007420 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln) | 6389 | SDHA | Uncertain significance | -1 | RCV002615182; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218523 | 218523 | | | NC_000005.9:g.218523T>A | - | | |
NM_004168.4(SDHA):c.54G>T (p.Leu18=) | 6389 | SDHA | Likely benign | -1 | RCV003098967; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218524 | 218524 | | | | - | | |
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1560980986 | RCV000696776|RCV002343493; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218525 | 218525 | | | 5:g.218525G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly) | 6389 | SDHA | Uncertain significance | 2126522773 | RCV002030327; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218526 | 218526 | | | 218526 | - | | |
NM_004168.4(SDHA):c.57C>G (p.Ala19=) | 6389 | SDHA | Likely benign | 749948037 | RCV000842001|RCV001024546|RCV001084132; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218527 | 218527 | | | NC_000005.9:g.218527C>G | ClinGen:CA3172691 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu) | 6389 | SDHA | Uncertain significance | 1734504263 | RCV001298669|RCV002357093; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218528 | 218528 | | | 218528 | - | | |
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV002943742|RCV003308370; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218530 | 218530 | | | NC_000005.9:g.218530G>T | - | | |
NM_004168.4(SDHA):c.60G>A (p.Lys20=) | 6389 | SDHA | Likely benign | -1 | RCV002953545; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218530 | 218530 | | | | - | | |
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr) | 6389 | SDHA | Uncertain significance | 1553996375 | RCV000556549; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218531 | 218531 | | | NC_000005.9:g.218531G>A | ClinGen:CA359007466 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.62C>T (p.Ala21Val) | 6389 | SDHA | Uncertain significance | 2126522821 | RCV001884830; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218532 | 218532 | | | 218532 | - | | |
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu) | 6389 | SDHA | Uncertain significance | 2126522821 | RCV002005224; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218532 | 218532 | | | 218532 | - | | |
NM_004168.4(SDHA):c.63G>A (p.Ala21=) | 6389 | SDHA | Uncertain significance | 587781942 | RCV000130309|RCV001304201; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218533 | 218533 | | | 5:g.218533G>A | ClinGen:CA166153 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.63G>T (p.Ala21=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 587781942 | RCV001025228|RCV001350507; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218533 | 218533 | | | 5:g.218533G>T | - | | |
NM_004168.4(SDHA):c.63+2del | 6389 | SDHA | Likely pathogenic | 1579369969 | RCV000810130|RCV003166289; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 218535 | 218535 | | | 5:g.218535_218535del | - | | |
NM_004168.4(SDHA):c.63+3del | 6389 | SDHA | Uncertain significance | 1734505446 | RCV001306930|RCV003473853; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 218536 | 218536 | | | 218535 | - | | |
NM_004168.4(SDHA):c.63+4A>G | 6389 | SDHA | Uncertain significance | -1 | RCV002937422; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218537 | 218537 | | | NC_000005.9:g.218537A>G | - | | |
NM_004168.4(SDHA):c.63+7C>A | 6389 | SDHA | Uncertain significance | -1 | RCV002811695; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218540 | 218540 | | | NC_000005.9:g.218540C>A | - | | |
NM_004168.4(SDHA):c.63+8C>T | 6389 | SDHA | Likely benign | 766358430 | RCV000227123|RCV003437021; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 218541 | 218541 | | | 5:g.218541C>T | ClinGen:CA3172693 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.63+8C>A | 6389 | SDHA | Likely benign | 766358430 | RCV001416091; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218541 | 218541 | | | 218541 | - | | |
NM_004168.4(SDHA):c.63+9G>A | 6389 | SDHA | Likely benign | 751401688 | RCV001487956; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218542 | 218542 | | | 218542 | - | | |
NM_004168.4(SDHA):c.63+10T>C | 6389 | SDHA | Likely benign | 2126522948 | RCV002122156; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218543 | 218543 | | | 218543 | - | | |
NM_004168.4(SDHA):c.63+10T>G | 6389 | SDHA | Likely benign | -1 | RCV002710981; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218543 | 218543 | | | NC_000005.9:g.218543T>G | - | | |
NM_004168.4(SDHA):c.63+13C>G | 6389 | SDHA | Likely benign | -1 | RCV003073033; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218546 | 218546 | | | NC_000005.9:g.218546C>G | - | | |
NM_004168.4(SDHA):c.63+14G>A | 6389 | SDHA | Likely benign | 2126522961 | RCV002088131; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 218547 | 218547 | | | 218547 | - | | |
NM_004168.4(SDHA):c.63+16G>C | 6389 | SDHA | Likely benign | 1252759825 | RCV002170220; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218549 | 218549 | | | 218549 | - | | |
NM_004168.4(SDHA):c.63+18A>G | 6389 | SDHA | Likely benign | 2126522991 | RCV002213285; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218551 | 218551 | | | 218551 | - | | |
NM_004168.4(SDHA):c.63+19C>A | 6389 | SDHA | Likely benign | 1553996384 | RCV000601436|RCV002063079; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218552 | 218552 | | | 5:g.218552C>A | ClinGen:CA658796482 | CN169374 not specified; | |
NM_004168.4(SDHA):c.63+20C>T | 6389 | SDHA | Likely benign | 1734507324 | RCV002199683; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 218553 | 218553 | | | 218553 | - | | |
NM_004168.4(SDHA):c.64-13_64-5del | 6389 | SDHA | Likely benign | 1382759501 | RCV002179809; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223575 | 223583 | | | 223574 | - | | |
NM_004168.4(SDHA):c.64-19G>A | 6389 | SDHA | Likely benign | 1490248268 | RCV002108542; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223578 | 223578 | | | 223578 | - | | |
NM_004168.4(SDHA):c.64-17G>A | 6389 | SDHA | Likely benign | -1 | RCV003047990; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223580 | 223580 | | | NC_000005.9:g.223580G>A | - | | |
NM_004168.4(SDHA):c.64-15C>T | 6389 | SDHA | Likely benign | 1388748464 | RCV002217907; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223582 | 223582 | | | 223582 | - | | |
NM_004168.4(SDHA):c.64-13T>G | 6389 | SDHA | Likely benign | 2126539312 | RCV002195305; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223584 | 223584 | | | 223584 | - | | |
NM_004168.4(SDHA):c.64-12C>T | 6389 | SDHA | Likely benign | 769476810 | RCV002215344; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223585 | 223585 | | | 223585 | - | | |
NM_004168.4(SDHA):c.64-11T>C | 6389 | SDHA | Likely benign | 2126539331 | RCV001994610; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223586 | 223586 | | | 223586 | - | | |
NM_004168.4(SDHA):c.64-10G>A | 6389 | SDHA | Likely benign | 1553997159 | RCV000649470; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223587 | 223587 | | | 5:g.223587G>A | ClinGen:CA658796483 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.64-10G>C | 6389 | SDHA | Likely benign | 1553997159 | RCV001411778; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223587 | 223587 | | | 223587 | - | | |
NM_004168.4(SDHA):c.64-7T>C | 6389 | SDHA | Likely benign | 1579379588 | RCV001476978; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223590 | 223590 | | | 5:g.223590T>C | - | | |
NM_004168.4(SDHA):c.64-7T>G | 6389 | SDHA | Uncertain significance | 1579379588 | RCV001298651; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223590 | 223590 | | | 223590 | - | | |
NM_004168.4(SDHA):c.64-4C>T | 6389 | SDHA | Likely benign | -1 | RCV002589961; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223593 | 223593 | | | NC_000005.9:g.223593C>T | - | | |
NM_004168.4(SDHA):c.64-3C>T | 6389 | SDHA | Uncertain significance | 772607568 | RCV000216659|RCV000533456; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223594 | 223594 | | | 5:g.223594C>T | ClinGen:CA3172711 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.64-2A>G | 6389 | SDHA | Pathogenic/Likely pathogenic | 762456298 | RCV001036409|RCV001528244|RCV002363550; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223595 | 223595 | | | 5:g.223595A>G | - | | |
NM_004168.4(SDHA):c.64-2A>C | 6389 | SDHA | Likely pathogenic | -1 | RCV002628429; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223595 | 223595 | | | NC_000005.9:g.223595A>C | - | | |
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg) | 6389 | SDHA | Uncertain significance | 2126539375 | RCV002033210; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223597 | 223597 | | | 223597 | - | | |
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter) | 6389 | SDHA | Pathogenic | 2126539382 | RCV001946937; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223598 | 223598 | | | 223598 | - | | |
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1579379632 | RCV000816218|RCV003166352; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223603 | 223603 | | | 5:g.223603A>G | - | | |
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV003049788; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223604 | 223604 | | | NC_000005.9:g.223604C>G | - | | |
NM_004168.4(SDHA):c.72A>C (p.Thr24=) | 6389 | SDHA | Likely benign | 2126539424 | RCV001440236; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223605 | 223605 | | | 223605 | - | | |
NM_004168.4(SDHA):c.72A>G (p.Thr24=) | 6389 | SDHA | Likely benign | 2126539424 | RCV001445168; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223605 | 223605 | | | 223605 | - | | |
NM_004168.4(SDHA):c.74T>C (p.Val25Ala) | 6389 | SDHA | Uncertain significance | 2126539437 | RCV001965794; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223607 | 223607 | | | 223607 | - | | |
NM_004168.4(SDHA):c.75G>A (p.Val25=) | 6389 | SDHA | Likely benign | 774378936 | RCV002178106|RCV002391170; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223608 | 223608 | | | 223608 | - | | |
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu) | 6389 | SDHA | Uncertain significance | 1734829878 | RCV001039324; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223612 | 223612 | | | 5:g.223612C>G | - | | |
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter) | 6389 | SDHA | Pathogenic | 1734829878 | RCV001385763|RCV002420861; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223612 | 223612 | | | 223612 | - | | |
NM_004168.4(SDHA):c.81A>G (p.Gln27=) | 6389 | SDHA | Likely benign | 759523671 | RCV002129162|RCV002427696; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223614 | 223614 | | | 223614 | - | | |
NM_004168.4(SDHA):c.83dup (p.Gly29fs) | 6389 | SDHA | Pathogenic | 1734830402 | RCV001037616; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223615 | 223616 | | | 5:g.223615_223616insC | - | | |
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile) | 6389 | SDHA | Uncertain significance | 1171584124 | RCV001935291; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223616 | 223616 | | | 223616 | - | | |
NM_004168.4(SDHA):c.84A>G (p.Thr28=) | 6389 | SDHA | Likely benign | 1553997162 | RCV000603424|RCV001494315|RCV002448860; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223617 | 223617 | | | 5:g.223617A>G | ClinGen:CA442689802 | CN169374 not specified; | |
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu) | 6389 | SDHA | Uncertain significance | 1436200566 | RCV000542539|RCV001018205|RCV001755880; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 223619 | 223619 | | | NC_000005.9:g.223619G>A | ClinGen:CA359008107 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala) | 6389 | SDHA | Uncertain significance | 2126539529 | RCV002040499; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223621 | 223621 | | | 223621 | - | | |
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile) | 6389 | SDHA | Uncertain significance | 1560985157 | RCV000699826|RCV002369914|RCV003472232; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 223622 | 223622 | | | 5:g.223622C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.90C>G (p.Thr30=) | 6389 | SDHA | Likely benign | 2126539545 | RCV001489023; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223623 | 223623 | | | 223623 | - | | |
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 752532780 | RCV000225880|RCV000410721|RCV000571153|RCV001589187|RCV002478861|RCV003475078; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 223625 | 223625 | | | NC_000005.9:g.223625G>A | ClinGen:CA3172716 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg) | 6389 | SDHA | Uncertain significance | 1734831542 | RCV001318592; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223627 | 223627 | | | 223627 | - | | |
NM_004168.4(SDHA):c.96T>C (p.Gly32=) | 6389 | SDHA | Likely benign | 2126539605 | RCV002167795|RCV002372846; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223629 | 223629 | | | 223629 | - | | |
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser) | 6389 | SDHA | Uncertain significance | 1734831975 | RCV001218025; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223631 | 223631 | | | 5:g.223631T>C | - | | |
NM_004168.4(SDHA):c.99_108del (p.Phe33fs) | 6389 | SDHA | Pathogenic | 1734832099 | RCV001223903; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223631 | 223640 | | | 5:g.223631_223640del | - | | |
NM_004168.4(SDHA):c.101A>G (p.His34Arg) | 6389 | SDHA | Uncertain significance | 757478250 | RCV001009716|RCV001226605; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223634 | 223634 | | | 5:g.223634A>G | - | | |
NM_004168.4(SDHA):c.102C>T (p.His34=) | 6389 | SDHA | Likely benign | 2126539644 | RCV002117682|RCV002382369; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223635 | 223635 | | | 223635 | - | | |
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala) | 6389 | SDHA | Uncertain significance | 750500173 | RCV000218672|RCV000559108|RCV002509312|RCV003475003; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 223639 | 223639 | | | 5:g.223639A>G | ClinGen:CA3172719 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser) | 6389 | SDHA | Uncertain significance | 750500173 | RCV000688361|RCV001017190|RCV003472191; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 223639 | 223639 | | | 5:g.223639A>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile) | 6389 | SDHA | Uncertain significance | 1440814662 | RCV000563141|RCV001242428|RCV003471906; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 223640 | 223640 | | | 5:g.223640C>T | ClinGen:CA359008161 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.108T>C (p.Thr36=) | 6389 | SDHA | Likely benign | 1301747916 | RCV001399952; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223641 | 223641 | | | 223641 | - | | |
NM_004168.4(SDHA):c.109G>A (p.Val37Ile) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 758426529 | RCV000229719|RCV000574162|RCV000662820|RCV003441813; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 223642 | 223642 | | | 5:g.223642G>A | ClinGen:CA3172720 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.112G>C (p.Asp38His) | 6389 | SDHA | Uncertain significance | 1553997174 | RCV000649394; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223645 | 223645 | | | NC_000005.9:g.223645G>C | ClinGen:CA359008177 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn) | 6389 | SDHA | Uncertain significance | 1553997174 | RCV001929371; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223645 | 223645 | | | 223645 | - | | |
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) | 6389 | SDHA | Benign/Likely benign | 34635677 | RCV000210535|RCV000295347|RCV000245657|RCV000352522|RCV000387287|RCV000567706|RCV000757746|RCV001262690|RCV003316169; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506| | 5 | 223646 | 223646 | | | NC_000005.9:g.223646A>T | UniProtKB:P31040#VAR_049215,ClinGen:CA358585 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.114T>C (p.Asp38=) | 6389 | SDHA | Likely benign | -1 | RCV002452677|RCV003094291; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223647 | 223647 | | | | - | | |
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser) | 6389 | SDHA | Uncertain significance | 1734833856 | RCV001222957; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223652 | 223652 | | | 5:g.223652A>G | - | | |
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys) | 6389 | SDHA | Uncertain significance | 1579379803 | RCV001010348|RCV001862766; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223653 | 223653 | | | 5:g.223653C>G | - | | |
NM_004168.4(SDHA):c.120C>T (p.Asn40=) | 6389 | SDHA | Likely benign | 1579379803 | RCV001010349|RCV001492667; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223653 | 223653 | | | 5:g.223653C>T | - | | |
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys) | 6389 | SDHA | Uncertain significance | 1579379803 | RCV001234262; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223653 | 223653 | | | 5:g.223653C>A | - | | |
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln) | 6389 | SDHA | Uncertain significance | 1061520 | RCV001212961|RCV002365956; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223654 | 223654 | | | 5:g.223654A>C | - | | |
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs) | 6389 | SDHA | Pathogenic | 1385076821 | RCV001389282; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223654 | 223655 | | | 223654 | - | | |
NM_004168.4(SDHA):c.123G>A (p.Lys41=) | 6389 | SDHA | Likely benign | 1553997185 | RCV000552529|RCV001010515; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223656 | 223656 | | | NC_000005.9:g.223656G>A | ClinGen:CA442689950 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys) | 6389 | SDHA | Uncertain significance | 747557411 | RCV000649445|RCV002424509; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223658 | 223658 | | | NC_000005.9:g.223658G>A | ClinGen:CA3172721 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.126G>A (p.Arg42=) | 6389 | SDHA | Likely benign | 2126539845 | RCV001395474|RCV003169961; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223659 | 223659 | | | 223659 | - | | |
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr) | 6389 | SDHA | Uncertain significance | 1579379865 | RCV000800127|RCV001010719; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223660 | 223660 | | | 5:g.223660G>A | - | | |
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr) | 6389 | SDHA | Uncertain significance | 1734835164 | RCV001224422; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223664 | 223664 | | | 5:g.223664C>A | - | | |
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe) | 6389 | SDHA | Uncertain significance | 1734835164 | RCV001212267; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223664 | 223664 | | | 5:g.223664C>T | - | | |
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys) | 6389 | SDHA | Uncertain significance | -1 | RCV003021309; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223664 | 223664 | | | NC_000005.9:g.223664C>G | - | | |
NM_004168.4(SDHA):c.132T>A (p.Ser44=) | 6389 | SDHA | Likely benign | -1 | RCV002755073; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223665 | 223665 | | | | - | | |
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 140736646 | RCV000210508|RCV000308179|RCV000347454|RCV000401643|RCV000410936|RCV000572294|RCV000678682|RCV001355540|RCV003330583; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100 | 5 | 223666 | 223666 | | | NC_000005.9:g.223666G>A | ClinGen:CA358573 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro) | 6389 | SDHA | Uncertain significance | 140736646 | RCV001971036|RCV002386843; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223666 | 223666 | | | 223666 | - | | |
NM_004168.4(SDHA):c.134C>T (p.Ala45Val) | 6389 | SDHA | Uncertain significance | 1553997190 | RCV000571515|RCV000807154; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223667 | 223667 | | | NC_000005.9:g.223667C>T | ClinGen:CA359008269 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 144599870 | RCV000210526|RCV000250106|RCV000410409|RCV000569199|RCV001705183; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, | 5 | 223669 | 223669 | | | NC_000005.9:g.223669A>G | ClinGen:CA358581 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.138A>G (p.Lys46=) | 6389 | SDHA | Likely benign | -1 | RCV003035175; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223671 | 223671 | | | | - | | |
NM_004168.4(SDHA):c.141T>C (p.Val47=) | 6389 | SDHA | Likely benign | 748490907 | RCV001499538; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223674 | 223674 | | | 223674 | - | | |
NM_004168.4(SDHA):c.141T>G (p.Val47=) | 6389 | SDHA | Likely benign | 748490907 | RCV002159256; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223674 | 223674 | | | 223674 | - | | |
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV003046386; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223675 | 223675 | | | NC_000005.9:g.223675T>A | - | | |
NM_004168.4(SDHA):c.144A>G (p.Ser48=) | 6389 | SDHA | Likely benign | -1 | RCV003018461; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223677 | 223677 | | | | - | | |
NM_004168.4(SDHA):c.145G>C (p.Asp49His) | 6389 | SDHA | Uncertain significance | 1734836072 | RCV001043194|RCV003236859; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900 | 5 | 223678 | 223678 | | | 5:g.223678G>C | - | | |
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 80207011 | RCV000130407|RCV000228248|RCV000410621|RCV001704054|RCV001818312; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 223679 | 223679 | | | 5:g.223679A>G | ClinGen:CA166372 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.147T>C (p.Asp49=) | 6389 | SDHA | Likely benign | 2126539950 | RCV001425772; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223680 | 223680 | | | 223680 | - | | |
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala) | 6389 | SDHA | Uncertain significance | 1560985310 | RCV000688888; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223681 | 223681 | | | NC_000005.9:g.223681T>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr) | 6389 | SDHA | Uncertain significance | 369321221 | RCV001011909|RCV001050816; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223682 | 223682 | | | 5:g.223682C>A | - | | |
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe) | 6389 | SDHA | Uncertain significance | 369321221 | RCV001011911|RCV001234880; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223682 | 223682 | | | 5:g.223682C>T | - | | |
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys) | 6389 | SDHA | Uncertain significance | 369321221 | RCV001373831; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223682 | 223682 | | | 223682 | - | | |
NM_004168.4(SDHA):c.150C>T (p.Ser50=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 140264486 | RCV000531485|RCV001011952|RCV003431099; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 223683 | 223683 | | | NC_000005.9:g.223683C>T | ClinGen:CA3172724 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.150_150+1delinsTA | 6389 | SDHA | Likely pathogenic | 2126539987 | RCV001379923; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223683 | 223684 | | | 223683 | - | | |
NM_004168.4(SDHA):c.150+1G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1057523165 | RCV000438780|RCV000471142|RCV000568947|RCV003476016; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 223684 | 223684 | | | 5:g.223684G>A | ClinGen:CA16604887 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.150+2dup | 6389 | SDHA | Uncertain significance | 1560985349 | RCV000689582; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223684 | 223685 | | | NC_000005.9:g.223685dup | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.150+1G>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1057523165 | RCV001378129|RCV003169937; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223684 | 223684 | | | 223684 | - | | |
NM_004168.4(SDHA):c.150+4A>G | 6389 | SDHA | Uncertain significance | 1734837029 | RCV001306330|RCV003166740; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223687 | 223687 | | | 223687 | - | | |
NM_004168.4(SDHA):c.150+5G>T | 6389 | SDHA | Uncertain significance | 770610694 | RCV000704406|RCV003165904; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 223688 | 223688 | | | NC_000005.9:g.223688G>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.150+6T>G | 6389 | SDHA | Uncertain significance | 1060503699 | RCV000477184; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223689 | 223689 | | | NC_000005.9:g.223689T>G | ClinGen:CA16612042 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.150+7T>G | 6389 | SDHA | Likely benign | 1734837376 | RCV001404311; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223690 | 223690 | | | 223690 | - | | |
NM_004168.4(SDHA):c.150+9A>G | 6389 | SDHA | Likely benign | 1553997201 | RCV000559846; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223692 | 223692 | | | NC_000005.9:g.223692A>G | ClinGen:CA658657417 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.150+12C>G | 6389 | SDHA | Likely benign | 773966272 | RCV002167536; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223695 | 223695 | | | 223695 | - | | |
NM_004168.4(SDHA):c.150+12C>T | 6389 | SDHA | Likely benign | 773966272 | RCV002095492; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223695 | 223695 | | | 223695 | - | | |
NM_004168.4(SDHA):c.150+17dup | 6389 | SDHA | Benign | 1734837730 | RCV002124620; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 223695 | 223696 | | | 223695 | - | | |
NM_004168.4(SDHA):c.150+14T>G | 6389 | SDHA | Likely benign | -1 | RCV002602588; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223697 | 223697 | | | NC_000005.9:g.223697T>G | - | | |
NM_004168.4(SDHA):c.150+15T>C | 6389 | SDHA | Likely benign | 1734837973 | RCV002169045; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223698 | 223698 | | | 223698 | - | | |
NM_004168.4(SDHA):c.150+18G>C | 6389 | SDHA | Likely benign | 759611800 | RCV002220289; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 223701 | 223701 | | | 223701 | - | | |
NM_004168.4(SDHA):c.151-20G>T | 6389 | SDHA | Likely benign | 2126542228 | RCV002095591; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224455 | 224455 | | | 224455 | - | | |
NM_004168.4(SDHA):c.151-20G>C | 6389 | SDHA | Likely benign | 2126542228 | RCV002218006; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224455 | 224455 | | | 224455 | - | | |
NM_004168.4(SDHA):c.151-18T>G | 6389 | SDHA | Likely benign | -1 | RCV003062782; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224457 | 224457 | | | NC_000005.9:g.224457T>G | - | | |
NM_004168.4(SDHA):c.151-17G>A | 6389 | SDHA | Likely benign | -1 | RCV002800988; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224458 | 224458 | | | NC_000005.9:g.224458G>A | - | | |
NM_004168.4(SDHA):c.151-16A>C | 6389 | SDHA | Likely benign | -1 | RCV003061561; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224459 | 224459 | | | NC_000005.9:g.224459A>C | - | | |
NM_004168.4(SDHA):c.151-15A>G | 6389 | SDHA | Uncertain significance | -1 | RCV003074284; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224460 | 224460 | | | NC_000005.9:g.224460A>G | - | | |
NM_004168.4(SDHA):c.151-9_151-7del | 6389 | SDHA | Uncertain significance | 2126542243 | RCV001929708; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224464 | 224466 | | | 224463 | - | | |
NM_004168.4(SDHA):c.151-9C>G | 6389 | SDHA | Uncertain significance | 1734881724 | RCV001339871; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224466 | 224466 | | | 224466 | - | | |
NM_004168.4(SDHA):c.151-9C>T | 6389 | SDHA | Uncertain significance | 1734881724 | RCV001952261; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224466 | 224466 | | | 224466 | - | | |
NM_004168.4(SDHA):c.151-6T>A | 6389 | SDHA | Likely benign | 1352062665 | RCV001225521; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224469 | 224469 | | | 5:g.224469T>A | - | | |
NM_004168.4(SDHA):c.151-3C>T | 6389 | SDHA | Uncertain significance | -1 | RCV003121616; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224472 | 224472 | | | NC_000005.9:g.224472C>T | - | | |
NM_004168.4(SDHA):c.151-2A>G | 6389 | SDHA | Likely pathogenic | -1 | RCV003086856|RCV003455712; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224473 | 224473 | | | NC_000005.9:g.224473A>G | - | | |
NM_004168.4(SDHA):c.151-1G>C | 6389 | SDHA | Likely pathogenic | 1458851277 | RCV000560981|RCV001859971; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224474 | 224474 | | | NC_000005.9:g.224474G>C | ClinGen:CA359008365 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) | 6389 | SDHA | Uncertain significance | 150326789 | RCV000649450|RCV002397291|RCV002499110|RCV003472047; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO | 5 | 224478 | 224478 | | | NC_000005.9:g.224478T>A | ClinGen:CA3172743 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) | 6389 | SDHA | Uncertain significance | 377470390 | RCV000239368|RCV000565564|RCV000764599|RCV001820793|RCV003313064|RCV003475849|RCV003137852; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO | 5 | 224479 | 224479 | | | NC_000005.9:g.224479C>T | ClinGen:CA3172744 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.159T>C (p.Ala53=) | 6389 | SDHA | Likely benign | -1 | RCV003065281; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224483 | 224483 | | | | - | | |
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter) | 6389 | SDHA | Pathogenic | 1560985916 | RCV001236314|RCV001565032; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN517202 | 5 | 224484 | 224484 | | | 5:g.224484C>T | - | | |
NM_004168.4(SDHA):c.162G>A (p.Gln54=) | 6389 | SDHA | Likely benign | 1468436658 | RCV000649463|RCV002397292; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224486 | 224486 | | | NC_000005.9:g.224486G>A | ClinGen:CA442690725 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) | 6389 | SDHA | Benign/Likely benign | 142926807 | RCV000303103|RCV000360177|RCV000399750|RCV000464569|RCV000570704|RCV000606498|RCV003333981|RCV003316500; | N | MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:00136 | 5 | 224487 | 224487 | | | NC_000005.9:g.224487T>C | ClinGen:CA3172745 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys) | 6389 | SDHA | Uncertain significance | 2126542365 | RCV002005698; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224488 | 224488 | | | 224488 | - | | |
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr) | 6389 | SDHA | Uncertain significance | 2126542374 | RCV001963393|RCV003475261; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 224490 | 224490 | | | 224490 | - | | |
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu) | 6389 | SDHA | Uncertain significance | -1 | RCV002300329; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224491 | 224491 | | | 224491 | - | | |
NM_004168.4(SDHA):c.168A>G (p.Pro56=) | 6389 | SDHA | Likely benign | 745316978 | RCV001438317|RCV003284327; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224492 | 224492 | | | 224492 | - | | |
NM_004168.4(SDHA):c.169G>T (p.Val57Leu) | 6389 | SDHA | Uncertain significance | 1060503724 | RCV000467197|RCV001012788|RCV002481483; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 224493 | 224493 | | | NC_000005.9:g.224493G>T | ClinGen:CA16611822 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.169G>A (p.Val57Ile) | 6389 | SDHA | Uncertain significance | 1060503724 | RCV002044372; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224493 | 224493 | | | 224493 | - | | |
NM_004168.4(SDHA):c.171dup (p.Val58fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1553997323 | RCV000657509|RCV001069584; | N | MedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224494 | 224495 | | | NC_000005.9:g.224495dup | - | | |
NM_004168.4(SDHA):c.170T>A (p.Val57Glu) | 6389 | SDHA | Uncertain significance | 1734883606 | RCV001337890; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224494 | 224494 | | | 224494 | - | | |
NM_004168.4(SDHA):c.173T>G (p.Val58Gly) | 6389 | SDHA | Uncertain significance | 2126542426 | RCV001905645|RCV002397842; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224497 | 224497 | | | 224497 | - | | |
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV002303964; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224499 | 224499 | | | 224499 | - | | |
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly) | 6389 | SDHA | Uncertain significance | 775449731 | RCV001921055|RCV002397910; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224500 | 224500 | | | 224500 | - | | |
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter) | 6389 | SDHA | Pathogenic | 1734884330 | RCV001037508; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224505 | 224505 | | | 5:g.224505G>T | - | | |
NM_004168.4(SDHA):c.188A>T (p.Asp63Val) | 6389 | SDHA | Uncertain significance | 1553997327 | RCV000549810|RCV003159902; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224512 | 224512 | | | NC_000005.9:g.224512A>T | ClinGen:CA359008452 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly) | 6389 | SDHA | Uncertain significance | 1553997327 | RCV000702942|RCV002406634; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224512 | 224512 | | | NC_000005.9:g.224512A>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.189T>C (p.Asp63=) | 6389 | SDHA | Likely benign | 2126542493 | RCV001489795|RCV002414187; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224513 | 224513 | | | 224513 | - | | |
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr) | 6389 | SDHA | Uncertain significance | 1734884655 | RCV001296934; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224514 | 224514 | | | 224514 | - | | |
NM_004168.4(SDHA):c.191C>T (p.Ala64Val) | 6389 | SDHA | Uncertain significance | 760510019 | RCV000570877|RCV001048664; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224515 | 224515 | | | 5:g.224515C>T | ClinGen:CA3172749 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.194T>C (p.Val65Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002300119; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224518 | 224518 | | | 224518 | - | | |
NM_004168.4(SDHA):c.195G>A (p.Val65=) | 6389 | SDHA | Likely benign | 2126542556 | RCV002097082; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224519 | 224519 | | | 224519 | - | | |
NM_004168.4(SDHA):c.198G>A (p.Val66=) | 6389 | SDHA | Likely benign | 1429525714 | RCV002190412|RCV002423319; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224522 | 224522 | | | 224522 | - | | |
NM_004168.4(SDHA):c.200T>C (p.Val67Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002933773; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224524 | 224524 | | | NC_000005.9:g.224524T>C | - | | |
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV003009564; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224526 | 224526 | | | NC_000005.9:g.224526G>A | - | | |
NM_004168.4(SDHA):c.204C>T (p.Gly68=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1055082816 | RCV000649420|RCV002422380|RCV002485461; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 224528 | 224528 | | | 5:g.224528C>T | ClinGen:CA442690857 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) | 6389 | SDHA | Uncertain significance | 370481102 | RCV000234463|RCV002418011|RCV003137848|RCV003417818; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900| | 5 | 224529 | 224529 | | | NC_000005.9:g.224529G>A | ClinGen:CA3172750 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV003021160; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224529 | 224529 | | | NC_000005.9:g.224529G>T | - | | |
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala) | 6389 | SDHA | Uncertain significance | 2126542624 | RCV002036381; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224533 | 224533 | | | 224533 | - | | |
NM_004168.4(SDHA):c.214dup (p.Ala72fs) | 6389 | SDHA | Pathogenic | 1734887425 | RCV001228059; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224534 | 224535 | | | 5:g.224534_224535insG | - | | |
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg) | 6389 | SDHA | Uncertain significance | 1734887299 | RCV001240524; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224535 | 224535 | | | 5:g.224535G>A | - | | |
NM_004168.4(SDHA):c.215C>T (p.Ala72Val) | 6389 | SDHA | Uncertain significance | 1204881025 | RCV001885549; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224539 | 224539 | | | 224539 | - | | |
NM_004168.4(SDHA):c.216A>G (p.Ala72=) | 6389 | SDHA | Likely benign | 1734887844 | RCV001502854|RCV002424934; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224540 | 224540 | | | 224540 | - | | |
NM_004168.4(SDHA):c.218G>T (p.Gly73Val) | 6389 | SDHA | Uncertain significance | 1553997347 | RCV000565207|RCV001222332; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224542 | 224542 | | | NC_000005.9:g.224542G>T | ClinGen:CA359008510 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.219C>G (p.Gly73=) | 6389 | SDHA | Likely benign | 776288745 | RCV000228306|RCV001014761; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224543 | 224543 | | | 5:g.224543C>G | ClinGen:CA3172751 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.220T>C (p.Leu74=) | 6389 | SDHA | Likely benign | -1 | RCV003020674; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224544 | 224544 | | | | - | | |
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser) | 6389 | SDHA | Uncertain significance | 763220651 | RCV001049640; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224545 | 224545 | | | 5:g.224545T>C | - | | |
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe) | 6389 | SDHA | Uncertain significance | -1 | RCV002776502; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224546 | 224546 | | | NC_000005.9:g.224546G>C | - | | |
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) | 6389 | SDHA | Pathogenic/Likely pathogenic | 781764920 | RCV000191050|RCV000481058|RCV000575496|RCV000684793|RCV002492875|RCV003474945; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 224547 | 224547 | | | 5:g.224547C>T | ClinGen:CA276119,OMIM:600857.0010 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln) | 6389 | SDHA | Uncertain significance | 751645963 | RCV001014928|RCV001362073; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224548 | 224548 | | | 5:g.224548G>A | - | | |
NM_004168.4(SDHA):c.227C>T (p.Ala76Val) | 6389 | SDHA | Uncertain significance | 1734888838 | RCV001984674; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224551 | 224551 | | | 224551 | - | | |
NM_004168.4(SDHA):c.228T>G (p.Ala76=) | 6389 | SDHA | Likely benign | 1416043203 | RCV001423915|RCV002456692; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224552 | 224552 | | | 224552 | - | | |
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002922102; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224557 | 224557 | | | NC_000005.9:g.224557T>C | - | | |
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp) | 6389 | SDHA | Uncertain significance | 759568419 | RCV001048302|RCV002451194; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224560 | 224560 | | | 5:g.224560G>A | - | | |
NM_004168.4(SDHA):c.237C>T (p.Gly79=) | 6389 | SDHA | Likely benign | 767927763 | RCV002185961; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224561 | 224561 | | | 224561 | - | | |
NM_004168.4(SDHA):c.240T>C (p.Leu80=) | 6389 | SDHA | Likely benign | 2126542884 | RCV002190922|RCV002454568; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224564 | 224564 | | | 224564 | - | | |
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe) | 6389 | SDHA | Uncertain significance | 1553997357 | RCV000546249; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224566 | 224566 | | | NC_000005.9:g.224566C>T | ClinGen:CA359008555 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) | 6389 | SDHA | Pathogenic | 2126542910 | RCV001381899|RCV002456598|RCV003148988; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224566 | 224567 | | | 224566 | - | | |
NM_004168.4(SDHA):c.243T>C (p.Ser81=) | 6389 | SDHA | Likely benign | -1 | RCV002460027|RCV003101821; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224567 | 224567 | | | | - | | |
NM_004168.4(SDHA):c.245_252del (p.Glu82fs) | 6389 | SDHA | Pathogenic | 1734890180 | RCV001218717; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224568 | 224575 | | | 5:g.224568_224575del | - | | |
NM_004168.4(SDHA):c.249A>G (p.Ala83=) | 6389 | SDHA | Likely benign | 1560986107 | RCV000976609|RCV002427407; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224573 | 224573 | | | 5:g.224573A>G | - | | |
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg) | 6389 | SDHA | Uncertain significance | 2126542993 | RCV001982263; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224574 | 224574 | | | 224574 | - | | |
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002792033; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224574 | 224574 | | | NC_000005.9:g.224574G>C | - | | |
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu) | 6389 | SDHA | Uncertain significance | 199615452 | RCV001877331; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224575 | 224575 | | | 224575 | - | | |
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) | 6389 | SDHA | Pathogenic | 1560986132 | RCV000698951; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224576 | 224577 | | | NC_000005.9:g.224577_224580dup | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.252G>T (p.Gly84=) | 6389 | SDHA | Likely benign | 753293451 | RCV001243121|RCV002430032; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224576 | 224576 | | | 5:g.224576G>T | - | | |
NM_004168.4(SDHA):c.252G>A (p.Gly84=) | 6389 | SDHA | Likely benign | 753293451 | RCV001439510|RCV002456728; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224576 | 224576 | | | 224576 | - | | |
NM_004168.4(SDHA):c.252G>C (p.Gly84=) | 6389 | SDHA | Likely benign | 753293451 | RCV001463522; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224576 | 224576 | | | 224576 | - | | |
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp) | 6389 | SDHA | Uncertain significance | 200519133 | RCV001069653; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224580 | 224580 | | | 5:g.224580A>G | - | | |
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser) | 6389 | SDHA | Uncertain significance | 2126543056 | RCV001866664; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224581 | 224581 | | | 224581 | - | | |
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile) | 6389 | SDHA | Uncertain significance | 756543943 | RCV000649443|RCV002440349|RCV003324782|RCV003472045; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 224584 | 224584 | | | NC_000005.9:g.224584C>T | ClinGen:CA3172758 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.261A>G (p.Thr87=) | 6389 | SDHA | Likely benign | 2126543070 | RCV002107921; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224585 | 224585 | | | 224585 | - | | |
NM_004168.4(SDHA):c.261A>C (p.Thr87=) | 6389 | SDHA | Likely benign | -1 | RCV003059178|RCV003170918; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224585 | 224585 | | | | - | | |
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr) | 6389 | SDHA | Uncertain significance | 2126543077 | RCV002046360; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224586 | 224586 | | | 224586 | - | | |
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly) | 6389 | SDHA | Uncertain significance | 1734891785 | RCV001228307|RCV001751443; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN517202 | 5 | 224587 | 224587 | | | 5:g.224587C>G | - | | |
NM_004168.4(SDHA):c.263C>T (p.Ala88Val) | 6389 | SDHA | Uncertain significance | 1734891785 | RCV001997624; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224587 | 224587 | | | 224587 | - | | |
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr) | 6389 | SDHA | Uncertain significance | 138016874 | RCV001365305|RCV002438848|RCV003473885; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 224590 | 224590 | | | 224590 | - | | |
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter) | 6389 | SDHA | Pathogenic | 1579381753 | RCV001016312|RCV001221035; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224591 | 224591 | | | 5:g.224591T>A | - | | |
NM_004168.4(SDHA):c.268G>A (p.Val90Ile) | 6389 | SDHA | Uncertain significance | 2126543120 | RCV001873104; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224592 | 224592 | | | 224592 | - | | |
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) | 6389 | SDHA | Uncertain significance | 886060514 | RCV000267910|RCV000297336|RCV000354574; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072 | 5 | 224593 | 224593 | | | NC_000005.9:g.224593T>C | ClinGen:CA10624326 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002644380|RCV003475517; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 224596 | 224596 | | | NC_000005.9:g.224596C>T | - | | |
NM_004168.4(SDHA):c.273C>A (p.Thr91=) | 6389 | SDHA | Likely benign | 2126543162 | RCV001439489; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224597 | 224597 | | | 224597 | - | | |
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln) | 6389 | SDHA | Uncertain significance | 1734892884 | RCV001037040; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224598 | 224598 | | | 5:g.224598A>C | - | | |
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg) | 6389 | SDHA | Uncertain significance | 778267118 | RCV002024507; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224599 | 224599 | | | 224599 | - | | |
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn) | 6389 | SDHA | Uncertain significance | 375298039 | RCV001065659|RCV002436661; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224600 | 224600 | | | 5:g.224600G>C | - | | |
NM_004168.4(SDHA):c.276G>A (p.Lys92=) | 6389 | SDHA | Likely benign | 375298039 | RCV001451721|RCV002439066; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224600 | 224600 | | | 224600 | - | | |
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro) | 6389 | SDHA | Uncertain significance | 1326611328 | RCV001904024; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224602 | 224602 | | | 224602 | - | | |
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV003050739; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224607 | 224607 | | | NC_000005.9:g.224607C>G | - | | |
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553997377 | RCV000570222|RCV000558917; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224608 | 224608 | | | NC_000005.9:g.224608C>G | ClinGen:CA359008642 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.285T>C (p.Pro95=) | 6389 | SDHA | Likely benign | 2126543225 | RCV002140638|RCV002434567; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224609 | 224609 | | | 224609 | - | | |
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002932538; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224610 | 224610 | | | NC_000005.9:g.224610A>G | - | | |
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) | 6389 | SDHA | Uncertain significance | 377620054 | RCV000231817|RCV000569754|RCV000663057|RCV000761150|RCV000786220; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 224611 | 224611 | | | NC_000005.9:g.224611C>T | ClinGen:CA3172761 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr) | 6389 | SDHA | Uncertain significance | 371274523 | RCV000649462|RCV002440350|RCV003420138; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 224614 | 224614 | | | NC_000005.9:g.224614G>C | ClinGen:CA3172762 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.291G>A (p.Arg97=) | 6389 | SDHA | Likely benign | -1 | RCV002439942|RCV003102879; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224615 | 224615 | | | | - | | |
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu) | 6389 | SDHA | Uncertain significance | 1579381851 | RCV000801045|RCV001329183|RCV003166199; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224617 | 224617 | | | 5:g.224617C>T | - | | |
NM_004168.4(SDHA):c.298_299del (p.Thr100fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 2126543272 | RCV001958646|RCV002256871; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224617 | 224618 | | | 224616 | - | | |
NM_004168.4(SDHA):c.296A>G (p.His99Arg) | 6389 | SDHA | Uncertain significance | 1579381882 | RCV000798855; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224620 | 224620 | | | 5:g.224620A>G | - | | |
NM_004168.4(SDHA):c.297C>T (p.His99=) | 6389 | SDHA | Likely benign | -1 | RCV002442194|RCV003102941; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224621 | 224621 | | | | - | | |
NM_004168.4(SDHA):c.300T>C (p.Thr100=) | 6389 | SDHA | Likely benign | 771662494 | RCV000461867|RCV001018051; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224624 | 224624 | | | NC_000005.9:g.224624T>C | ClinGen:CA3172764 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.303T>G (p.Val101=) | 6389 | SDHA | Likely benign | 2126543357 | RCV001456082|RCV003298782; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224627 | 224627 | | | 224627 | - | | |
NM_004168.4(SDHA):c.303T>C (p.Val101=) | 6389 | SDHA | Likely benign | -1 | RCV003025582; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224627 | 224627 | | | | - | | |
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile) | 6389 | SDHA | Uncertain significance | 1734896344 | RCV001238075; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224628 | 224629 | | | NC_000005.9:g.224628_224629delinsAT | - | | |
NM_004168.4(SDHA):c.305C>T (p.Ala102Val) | 6389 | SDHA | Uncertain significance | 1240528592 | RCV001064465|RCV003160529; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224629 | 224629 | | | 5:g.224629C>T | - | | |
NM_004168.4(SDHA):c.306A>G (p.Ala102=) | 6389 | SDHA | Likely benign | 2126543388 | RCV001394481|RCV002449089; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224630 | 224630 | | | 224630 | - | | |
NM_004168.4(SDHA):c.306A>T (p.Ala102=) | 6389 | SDHA | Likely benign | 2126543388 | RCV001484330; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224630 | 224630 | | | 224630 | - | | |
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs) | 6389 | SDHA | Pathogenic | 876658637 | RCV000216352|RCV002518274; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224631 | 224632 | | | NC_000005.9:g.224632CA[3] | ClinGen:CA10578625 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val) | 6389 | SDHA | Conflicting interpretations of pathogenicity | -1 | RCV001312570|RCV002319698; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224632 | 224633 | | | 224632 | - | | |
NM_004168.4(SDHA):c.309A>G (p.Ala103=) | 6389 | SDHA | Benign | 1139424 | RCV000118318|RCV000162942|RCV000261547|RCV000319629|RCV000385778|RCV001509667|RCV001705861|RCV003315682; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320 | 5 | 224633 | 224633 | | | 5:g.224633A>G | ClinGen:CA155154 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) | 6389 | SDHA | Pathogenic | 1423978863 | RCV001018677|RCV001383484; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224634 | 224634 | | | 5:g.224634C>T | - | | |
NM_004168.4(SDHA):c.312G>A (p.Gln104=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 2126543437 | RCV001939725|RCV003382703; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224636 | 224636 | | | 224636 | - | | |
NM_004168.4(SDHA):c.312+1G>A | 6389 | SDHA | Likely pathogenic | 2126543441 | RCV002018663; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224637 | 224637 | | | 224637 | - | | |
NM_004168.4(SDHA):c.312+4A>C | 6389 | SDHA | Uncertain significance | -1 | RCV002320489|RCV003099215; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224640 | 224640 | | | 224640 | - | | |
NM_004168.4(SDHA):c.312+5G>A | 6389 | SDHA | Uncertain significance | 1384659459 | RCV001991159; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224641 | 224641 | | | 224641 | - | | |
NM_004168.4(SDHA):c.312+5G>C | 6389 | SDHA | Uncertain significance | -1 | RCV002872079|RCV003308310; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 224641 | 224641 | | | NC_000005.9:g.224641G>C | - | | |
NM_004168.4(SDHA):c.312+7G>T | 6389 | SDHA | Likely benign | 2126543454 | RCV001399704; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224643 | 224643 | | | 224643 | - | | |
NM_004168.4(SDHA):c.312+7G>C | 6389 | SDHA | Likely benign | 2126543454 | RCV002071416; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 224643 | 224643 | | | 224643 | - | | |
NM_004168.4(SDHA):c.312+11G>C | 6389 | SDHA | Likely benign | 2126543478 | RCV002157950; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224647 | 224647 | | | 224647 | - | | |
NM_004168.4(SDHA):c.312+15C>A | 6389 | SDHA | Uncertain significance | 1180146041 | RCV002013200; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224651 | 224651 | | | 224651 | - | | |
NM_004168.4(SDHA):c.312+16C>T | 6389 | SDHA | Likely benign | 771169259 | RCV002155618; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224652 | 224652 | | | 224652 | - | | |
NM_004168.4(SDHA):c.312+16C>G | 6389 | SDHA | Likely benign | -1 | RCV002610244; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224652 | 224652 | | | NC_000005.9:g.224652C>G | - | | |
NM_004168.4(SDHA):c.312+17C>T | 6389 | SDHA | Likely benign | 1734898561 | RCV002145321; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224653 | 224653 | | | 224653 | - | | |
NM_004168.4(SDHA):c.312+18C>T | 6389 | SDHA | Likely benign | -1 | RCV003077835; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224654 | 224654 | | | NC_000005.9:g.224654C>T | - | | |
NM_004168.4(SDHA):c.312+20C>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 111533078 | RCV002077205|RCV003238458; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 224656 | 224656 | | | 224656 | - | | |
NM_004168.4(SDHA):c.312+20C>A | 6389 | SDHA | Likely benign | 111533078 | RCV002095679; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 224656 | 224656 | | | 224656 | - | | |
NM_004168.4(SDHA):c.313-19G>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 185555941 | RCV000411801|RCV000443248|RCV001528662|RCV002058842|RCV003168597; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386, | 5 | 225515 | 225515 | | | 5:g.225515G>T | ClinGen:CA3172796 | CN169374 not specified; | |
NM_004168.4(SDHA):c.313-18A>C | 6389 | SDHA | Likely benign | 1579383789 | RCV002170413; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225516 | 225516 | | | 225516 | - | | |
NM_004168.4(SDHA):c.313-13T>C | 6389 | SDHA | Uncertain significance | -1 | RCV002838155; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225521 | 225521 | | | NC_000005.9:g.225521T>C | - | | |
NM_004168.4(SDHA):c.313-11G>A | 6389 | SDHA | Uncertain significance | 1734951831 | RCV001888701; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225523 | 225523 | | | 225523 | - | | |
NM_004168.4(SDHA):c.313-10G>A | 6389 | SDHA | Likely benign | 1579383848 | RCV000798776; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225524 | 225524 | | | 5:g.225524G>A | - | | |
NM_004168.4(SDHA):c.313-8G>A | 6389 | SDHA | Likely benign | 1060503710 | RCV000458845; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225526 | 225526 | | | NC_000005.9:g.225526G>A | ClinGen:CA16611864 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.313-7T>C | 6389 | SDHA | Likely benign | 201972549 | RCV000465323|RCV002323758; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225527 | 225527 | | | NC_000005.9:g.225527T>C | ClinGen:CA16612044 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.313-6T>C | 6389 | SDHA | Likely benign | 1579383890 | RCV001479131; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225528 | 225528 | | | 5:g.225528T>C | - | | |
NM_004168.4(SDHA):c.313-5T>G | 6389 | SDHA | Uncertain significance | 1060503705 | RCV000459906; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225529 | 225529 | | | NC_000005.9:g.225529T>G | ClinGen:CA16612045 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.313-4C>T | 6389 | SDHA | Likely benign | 1368657380 | RCV000881226|RCV002320062; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225530 | 225530 | | | 5:g.225530C>T | - | | |
NM_004168.4(SDHA):c.313-4C>G | 6389 | SDHA | Likely benign | 1368657380 | RCV001018765|RCV001426122; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225530 | 225530 | | | 5:g.225530C>G | - | | |
NM_004168.4(SDHA):c.313-3C>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553997584 | RCV000534970|RCV000572784; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225531 | 225531 | | | NC_000005.9:g.225531C>T | ClinGen:CA658657418 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg) | 6389 | SDHA | Uncertain significance | 2126546583 | RCV001980030; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225534 | 225534 | | | 225534 | - | | |
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val) | 6389 | SDHA | Uncertain significance | 1734953252 | RCV001217978; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225535 | 225536 | | | NC_000005.9:g.225535_225536delinsTT | - | | |
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg) | 6389 | SDHA | Uncertain significance | 1579383936 | RCV000797368; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225537 | 225537 | | | 5:g.225537G>C | - | | |
NM_004168.4(SDHA):c.319A>G (p.Ile107Val) | 6389 | SDHA | Uncertain significance | 1060503720 | RCV000462764|RCV000566699; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225540 | 225540 | | | NC_000005.9:g.225540A>G | ClinGen:CA16611823 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn) | 6389 | SDHA | Uncertain significance | 1734953616 | RCV001042880; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225541 | 225541 | | | 5:g.225541T>A | - | | |
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser) | 6389 | SDHA | Uncertain significance | 1734953616 | RCV001238881; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225541 | 225541 | | | 5:g.225541T>G | - | | |
NM_004168.4(SDHA):c.321C>G (p.Ile107Met) | 6389 | SDHA | Uncertain significance | 1734953765 | RCV001248524|RCV002322166; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225542 | 225542 | | | 5:g.225542C>G | - | | |
NM_004168.4(SDHA):c.322_323del (p.Asn108fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 2126546657 | RCV001931700|RCV002259153; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225543 | 225544 | | | 225542 | - | | |
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser) | 6389 | SDHA | Uncertain significance | 758086385 | RCV000469628|RCV001019353; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225544 | 225544 | | | NC_000005.9:g.225544A>G | ClinGen:CA3172800 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro) | 6389 | SDHA | Uncertain significance | 786205209 | RCV001351460; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225549 | 225549 | | | NC_000005.9:g.225549G>C | ClinVar:190221 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.329C>T (p.Ala110Val) | 6389 | SDHA | Uncertain significance | -1 | RCV003042705; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225550 | 225550 | | | NC_000005.9:g.225550C>T | - | | |
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg) | 6389 | SDHA | Uncertain significance | 751114575 | RCV000472280; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225555 | 225555 | | | NC_000005.9:g.225555G>A | ClinGen:CA3172802 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.336G>C (p.Gly112=) | 6389 | SDHA | Likely benign | 375645919 | RCV000548300|RCV002456217; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225557 | 225557 | | | NC_000005.9:g.225557G>C | ClinGen:CA112815542 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.336G>A (p.Gly112=) | 6389 | SDHA | Likely benign | -1 | RCV002857070|RCV003340541; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225557 | 225557 | | | | - | | |
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp) | 6389 | SDHA | Uncertain significance | 1450249875 | RCV001972890|RCV003303527; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225558 | 225558 | | | 225558 | - | | |
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser) | 6389 | SDHA | Uncertain significance | 1734955271 | RCV001215082; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225559 | 225559 | | | 5:g.225559A>G | - | | |
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile) | 6389 | SDHA | Uncertain significance | 1734955271 | RCV001248525|RCV002451617; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225559 | 225559 | | | 5:g.225559A>T | - | | |
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr) | 6389 | SDHA | Uncertain significance | 1734955271 | RCV001876644; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225559 | 225559 | | | 225559 | - | | |
NM_004168.4(SDHA):c.339C>T (p.Asn113=) | 6389 | SDHA | Likely benign | -1 | RCV002666720; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225560 | 225560 | | | | - | | |
NM_004168.4(SDHA):c.340A>G (p.Met114Val) | 6389 | SDHA | Uncertain significance | 933414586 | RCV000649403|RCV002458123|RCV002485460; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 225561 | 225561 | | | 5:g.225561A>G | ClinGen:CA112815549 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.341T>A (p.Met114Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV003026823; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225562 | 225562 | | | NC_000005.9:g.225562T>A | - | | |
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del) | 6389 | SDHA | Uncertain significance | 1734955897 | RCV001989991; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225563 | 225565 | | | 225562 | - | | |
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp) | 6389 | SDHA | Uncertain significance | 368286780 | RCV001228080|RCV002451534; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225566 | 225566 | | | 5:g.225566G>C | - | | |
NM_004168.4(SDHA):c.345G>A (p.Glu115=) | 6389 | SDHA | Likely benign | 368286780 | RCV001469188|RCV002460161; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225566 | 225566 | | | 225566 | - | | |
NM_004168.4(SDHA):c.348G>A (p.Glu116=) | 6389 | SDHA | Likely benign | 2126546824 | RCV002177199|RCV002454348; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225569 | 225569 | | | 225569 | - | | |
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn) | 6389 | SDHA | Uncertain significance | 2126546832 | RCV002028208; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225570 | 225570 | | | 225570 | - | | |
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly) | 6389 | SDHA | Uncertain significance | 1579384062 | RCV000818402; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225571 | 225571 | | | 5:g.225571A>G | - | | |
NM_004168.4(SDHA):c.351C>T (p.Asp117=) | 6389 | SDHA | Likely benign | 1579384072 | RCV001406492|RCV002454148; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225572 | 225572 | | | 5:g.225572C>T | - | | |
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser) | 6389 | SDHA | Uncertain significance | 987288514 | RCV001935816|RCV003167192; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225574 | 225574 | | | 225574 | - | | |
NM_004168.4(SDHA):c.354C>T (p.Asn118=) | 6389 | SDHA | Likely benign | 923803277 | RCV000973738|RCV002337016; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225575 | 225575 | | | 5:g.225575C>T | - | | |
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg) | 6389 | SDHA | Uncertain significance | 1734957208 | RCV001349827; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225576 | 225576 | | | 225576 | - | | |
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) | 6389 | SDHA | Pathogenic | 1734957331 | RCV001062355|RCV001799730|RCV002451264|RCV003235460|RCV003455281; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015 | 5 | 225577 | 225577 | | | 5:g.225577G>A | - | | |
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys) | 6389 | SDHA | Uncertain significance | 2126546923 | RCV002033777; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225580 | 225580 | | | 225580 | - | | |
NM_004168.4(SDHA):c.360G>A (p.Arg120=) | 6389 | SDHA | Likely benign | 1247649190 | RCV001474605|RCV002456824; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225581 | 225581 | | | 225581 | - | | |
NM_004168.4(SDHA):c.364C>A (p.His122Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV003004949; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225585 | 225585 | | | NC_000005.9:g.225585C>A | - | | |
NM_004168.4(SDHA):c.365A>G (p.His122Arg) | 6389 | SDHA | Uncertain significance | 1579384131 | RCV000816860|RCV002495158|RCV003307530; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO | 5 | 225586 | 225586 | | | 5:g.225586A>G | - | | |
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu) | 6389 | SDHA | Uncertain significance | 1579384137 | RCV001020912|RCV001373562; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225590 | 225590 | | | 5:g.225590C>G | - | | |
NM_004168.4(SDHA):c.370T>C (p.Tyr124His) | 6389 | SDHA | Uncertain significance | 2126546996 | RCV001936982; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225591 | 225591 | | | 225591 | - | | |
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys) | 6389 | SDHA | Uncertain significance | 935241830 | RCV000468036|RCV002349988; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225592 | 225592 | | | NC_000005.9:g.225592A>G | ClinGen:CA16611927 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.372C>T (p.Tyr124=) | 6389 | SDHA | Likely benign | 754393360 | RCV000460760|RCV001020988|RCV003431041; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 225593 | 225593 | | | NC_000005.9:g.225593C>T | ClinGen:CA3172803 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn) | 6389 | SDHA | Uncertain significance | 780654623 | RCV000528854|RCV002350354|RCV001821586; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 225594 | 225594 | | | NC_000005.9:g.225594G>A | ClinGen:CA3172804 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.373G>C (p.Asp125His) | 6389 | SDHA | Uncertain significance | 780654623 | RCV001021015|RCV001205740; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225594 | 225594 | | | 5:g.225594G>C | - | | |
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1553997617 | RCV000539370|RCV001021144|RCV003151099|RCV003419981|RCV003476304; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364 | 5 | 225598 | 225598 | | | NC_000005.9:g.225599del | ClinGen:CA658657419 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.378C>T (p.Thr126=) | 6389 | SDHA | Likely benign | 756039268 | RCV000469212|RCV002367621; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225599 | 225599 | | | NC_000005.9:g.225599C>T | ClinGen:CA3172806 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.379G>A (p.Val127Met) | 6389 | SDHA | Uncertain significance | 777600956 | RCV000473055|RCV000569237; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225600 | 225600 | | | NC_000005.9:g.225600G>A | ClinGen:CA3172807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp) | 6389 | SDHA | Uncertain significance | 2126547166 | RCV001899967; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225607 | 225607 | | | 225607 | - | | |
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys) | 6389 | SDHA | Uncertain significance | 1553997625 | RCV000537028|RCV002358583; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225610 | 225610 | | | NC_000005.9:g.225610C>G | ClinGen:CA359009441 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.390C>T (p.Ser130=) | 6389 | SDHA | Likely benign | 748976493 | RCV000571960|RCV000649489; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225611 | 225611 | | | 5:g.225611C>T | ClinGen:CA3172808 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs) | 6389 | SDHA | Pathogenic | 2126547233 | RCV001866474; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225611 | 225612 | | | 225611 | - | | |
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn) | 6389 | SDHA | Uncertain significance | 1324014370 | RCV000575285|RCV000691087|RCV001800774; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 225612 | 225612 | | | 5:g.225612G>A | ClinGen:CA359009446 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly) | 6389 | SDHA | Uncertain significance | 2126547239 | RCV001902435; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225613 | 225613 | | | 225613 | - | | |
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys) | 6389 | SDHA | Uncertain significance | 1734960239 | RCV001228234|RCV003284086|RCV003473794; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 225617 | 225617 | | | 5:g.225617G>T | - | | |
NM_004168.4(SDHA):c.397C>T (p.Leu133=) | 6389 | SDHA | Uncertain significance | 2126547261 | RCV001914418; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225618 | 225618 | | | 225618 | - | | |
NM_004168.4(SDHA):c.397C>G (p.Leu133Val) | 6389 | SDHA | Uncertain significance | 2126547261 | RCV003094257|RCV002259255; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225618 | 225618 | | | 225618 | - | | |
NM_004168.4(SDHA):c.403del (p.Asp135fs) | 6389 | SDHA | Pathogenic | -1 | RCV003070967|RCV003316881|RCV003340601; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225620 | 225620 | | | NC_000005.9:g.225624del | - | | |
NM_004168.4(SDHA):c.401G>T (p.Gly134Val) | 6389 | SDHA | Uncertain significance | -1 | RCV003060696; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225622 | 225622 | | | NC_000005.9:g.225622G>T | - | | |
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) | 6389 | SDHA | Uncertain significance | 1734960553 | RCV001152038|RCV001152037|RCV001152036|RCV001206474|RCV002355125; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:00136 | 5 | 225624 | 225624 | | | 5:g.225624G>A | - | | |
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) | 6389 | SDHA | Uncertain significance | 1365359024 | RCV002024752|RCV002291797; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225627 | 225627 | | | 225627 | - | | |
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu) | 6389 | SDHA | Uncertain significance | 876660259 | RCV000213542|RCV002519727; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225628 | 225628 | | | 5:g.225628A>T | ClinGen:CA10578626 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.408G>A (p.Gln136=) | 6389 | SDHA | Likely benign | 190477316 | RCV000469927|RCV000567403; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225629 | 225629 | | | NC_000005.9:g.225629G>A | ClinGen:CA3172811 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr) | 6389 | SDHA | Uncertain significance | 1734961262 | RCV001221891|RCV003380898; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225630 | 225630 | | | 5:g.225630G>T | - | | |
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) | 6389 | SDHA | Uncertain significance | 1444399160 | RCV000525177; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225632 | 225632 | | | NC_000005.9:g.225632T>A | ClinGen:CA359009538 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu) | 6389 | SDHA | Uncertain significance | 1444399160 | RCV001993997|RCV002324437|RCV003475267; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 225632 | 225632 | | | 225632 | - | | |
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV002581147; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225633 | 225633 | | | NC_000005.9:g.225633G>A | - | | |
NM_004168.4(SDHA):c.413C>T (p.Ala138Val) | 6389 | SDHA | Uncertain significance | 1342456775 | RCV000542175; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225634 | 225634 | | | NC_000005.9:g.225634C>T | ClinGen:CA359009551 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.414C>T (p.Ala138=) | 6389 | SDHA | Likely benign | 1219265195 | RCV001455176; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225635 | 225635 | | | 5:g.225635C>T | - | | |
NM_004168.4(SDHA):c.415A>G (p.Ile139Val) | 6389 | SDHA | Uncertain significance | -1 | RCV002653993; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225636 | 225636 | | | NC_000005.9:g.225636A>G | - | | |
NM_004168.4(SDHA):c.419A>G (p.His140Arg) | 6389 | SDHA | Uncertain significance | 759266253 | RCV000457011; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225640 | 225640 | | | NC_000005.9:g.225640A>G | ClinGen:CA16611928 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.420C>G (p.His140Gln) | 6389 | SDHA | Uncertain significance | 747232441 | RCV001965053; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225641 | 225641 | | | 225641 | - | | |
NM_004168.4(SDHA):c.420C>T (p.His140=) | 6389 | SDHA | Likely benign | 747232441 | RCV002072839; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225641 | 225641 | | | 225641 | - | | |
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp) | 6389 | SDHA | Uncertain significance | 1553997643 | RCV000570081|RCV001342949; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225642 | 225642 | | | 5:g.225642T>G | ClinGen:CA359009582 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.421T>C (p.Tyr141His) | 6389 | SDHA | Uncertain significance | 1553997643 | RCV000810217|RCV002290977; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259 | 5 | 225642 | 225642 | | | 5:g.225642T>C | - | | |
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys) | 6389 | SDHA | Uncertain significance | 1377816261 | RCV002223477|RCV002258395|RCV003101271; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225643 | 225643 | | | 225643 | - | | |
NM_004168.4(SDHA):c.423C>T (p.Tyr141=) | 6389 | SDHA | Likely benign | 768897373 | RCV000234606|RCV000567577; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225644 | 225644 | | | NC_000005.9:g.225644C>T | ClinGen:CA3172813 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.424A>G (p.Met142Val) | 6389 | SDHA | Uncertain significance | 776848209 | RCV000457452|RCV001755708|RCV002329086|RCV002481481; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 225645 | 225645 | | | NC_000005.9:g.225645A>G | ClinGen:CA3172814 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.424A>C (p.Met142Leu) | 6389 | SDHA | Uncertain significance | 776848209 | RCV001052974; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225645 | 225645 | | | 5:g.225645A>C | - | | |
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn) | 6389 | SDHA | Uncertain significance | 2126547518 | RCV001921863; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225646 | 225647 | | | 225646 | - | | |
NM_004168.4(SDHA):c.428C>T (p.Thr143Met) | 6389 | SDHA | Uncertain significance | 200675907 | RCV000471253|RCV001022221|RCV001821297|RCV003476129; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 225649 | 225649 | | | NC_000005.9:g.225649C>T | ClinGen:CA16612048 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.429G>A (p.Thr143=) | 6389 | SDHA | Likely benign | 906281170 | RCV000550383|RCV002330949; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225650 | 225650 | | | NC_000005.9:g.225650G>A | ClinGen:CA112815664 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.429G>T (p.Thr143=) | 6389 | SDHA | Likely benign | 906281170 | RCV001503986; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225650 | 225650 | | | 225650 | - | | |
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu) | 6389 | SDHA | Uncertain significance | 765784494 | RCV002028300|RCV002331590; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225654 | 225654 | | | 225654 | - | | |
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002880440; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225655 | 225655 | | | NC_000005.9:g.225655A>G | - | | |
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV002303954; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225657 | 225657 | | | 225657 | - | | |
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV002909370; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225657 | 225657 | | | NC_000005.9:g.225657G>A | - | | |
NM_004168.4(SDHA):c.437C>T (p.Ala146Val) | 6389 | SDHA | Uncertain significance | 1060503714 | RCV000472132|RCV003362797; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225658 | 225658 | | | NC_000005.9:g.225658C>T | ClinGen:CA16611930 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser) | 6389 | SDHA | Uncertain significance | 1734963793 | RCV002025413; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225660 | 225660 | | | 225660 | - | | |
NM_004168.4(SDHA):c.440C>A (p.Pro147His) | 6389 | SDHA | Uncertain significance | 763191656 | RCV000811030; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225661 | 225661 | | | 5:g.225661C>A | - | | |
NM_004168.4(SDHA):c.441C>T (p.Pro147=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 201453889 | RCV000233726|RCV000332396|RCV000389166|RCV000274933|RCV000564203; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO | 5 | 225662 | 225662 | | | 5:g.225662C>T | ClinGen:CA3172819 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.441C>A (p.Pro147=) | 6389 | SDHA | Likely benign | 201453889 | RCV001480701; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225662 | 225662 | | | 225662 | - | | |
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 375576259 | RCV000228365|RCV000287726|RCV000345164|RCV000383376|RCV000572868|RCV003475076; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100 | 5 | 225663 | 225663 | | | 5:g.225663G>A | ClinGen:CA3172820 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser) | 6389 | SDHA | Uncertain significance | 375576259 | RCV001895502; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225663 | 225663 | | | 225663 | - | | |
NM_004168.4(SDHA):c.444C>T (p.Ala148=) | 6389 | SDHA | Likely benign | 367618662 | RCV000570539|RCV000649472; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225665 | 225665 | | | 5:g.225665C>T | ClinGen:CA3172821 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.444C>G (p.Ala148=) | 6389 | SDHA | Likely benign | 367618662 | RCV002170235|RCV002331674; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225665 | 225665 | | | 225665 | - | | |
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) | 6389 | SDHA | Uncertain significance | 575617625 | RCV000571754|RCV000764600|RCV000702947; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MO | 5 | 225666 | 225666 | | | 5:g.225666G>A | ClinGen:CA3172822 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.446C>T (p.Ala149Val) | 6389 | SDHA | Uncertain significance | 1060503709 | RCV000473445; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225667 | 225667 | | | NC_000005.9:g.225667C>T | ClinGen:CA16612049 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.447del (p.Val150fs) | 6389 | SDHA | Pathogenic | 2126547751 | RCV001956560; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225667 | 225667 | | | 225666 | - | | |
NM_004168.4(SDHA):c.447C>T (p.Ala149=) | 6389 | SDHA | Likely benign | 752187837 | RCV000567589|RCV000649485; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225668 | 225668 | | | 5:g.225668C>T | ClinGen:CA3172823 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.447C>G (p.Ala149=) | 6389 | SDHA | Likely benign | 752187837 | RCV001484797; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225668 | 225668 | | | 5:g.225668C>G | - | | |
NM_004168.4(SDHA):c.447C>A (p.Ala149=) | 6389 | SDHA | Likely benign | -1 | RCV003047880|RCV003294401; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225668 | 225668 | | | | - | | |
NM_004168.4(SDHA):c.448G>A (p.Val150Met) | 6389 | SDHA | Uncertain significance | 542980860 | RCV000562589|RCV000695590|RCV000764601|RCV003328100|RCV003471904; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO | 5 | 225669 | 225669 | | | NC_000005.9:g.225669G>A | ClinGen:CA3172824 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.450G>A (p.Val150=) | 6389 | SDHA | Uncertain significance | 1734965281 | RCV001298738; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225671 | 225671 | | | 225671 | - | | |
NM_004168.4(SDHA):c.451G>A (p.Val151Ile) | 6389 | SDHA | Uncertain significance | 143148642 | RCV000232272|RCV002338729|RCV003417819; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 225672 | 225672 | | | 5:g.225672G>A | ClinGen:CA3172825 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.453C>T (p.Val151=) | 6389 | SDHA | Likely benign | 138917116 | RCV000226323|RCV000603740|RCV001022667; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225674 | 225674 | | | 5:g.225674C>T | ClinGen:CA3172826 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.453C>A (p.Val151=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 138917116 | RCV000475275|RCV001022664|RCV003230266; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225674 | 225674 | | | NC_000005.9:g.225674C>A | ClinGen:CA3172827 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.453C>G (p.Val151=) | 6389 | SDHA | Likely benign | 138917116 | RCV000649486|RCV001022666; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225674 | 225674 | | | 5:g.225674C>G | ClinGen:CA442691016 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) | 6389 | SDHA | Uncertain significance | 778737664 | RCV000526392|RCV001022683|RCV002509437|RCV003231529|RCV003476313; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M | 5 | 225675 | 225675 | | | NC_000005.9:g.225675G>A | ClinGen:CA3172828 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln) | 6389 | SDHA | Uncertain significance | 778737664 | RCV001214350; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225675 | 225675 | | | 5:g.225675G>C | - | | |
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter) | 6389 | SDHA | Pathogenic | 778737664 | RCV001383931|RCV002329405; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225675 | 225675 | | | 225675 | - | | |
NM_004168.4(SDHA):c.456G>A (p.Glu152=) | 6389 | SDHA | Uncertain significance | 1579384590 | RCV001212300|RCV003442772|RCV003473758; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 225677 | 225677 | | | 5:g.225677G>A | - | | |
NM_004168.4(SDHA):c.456+1G>A | 6389 | SDHA | Likely pathogenic | 1579384604 | RCV001022698|RCV001204959|RCV002271609|RCV002497343; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:010 | 5 | 225678 | 225678 | | | 5:g.225678G>A | - | | |
NM_004168.4(SDHA):c.456+3G>T | 6389 | SDHA | Uncertain significance | 1362754028 | RCV001052520; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225680 | 225680 | | | 5:g.225680G>T | - | | |
NM_004168.4(SDHA):c.456+3_456+4delinsCT | 6389 | SDHA | Uncertain significance | 1734966566 | RCV001058233; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225680 | 225681 | | | NC_000005.9:g.225680_225681delinsCT | - | | |
NM_004168.4(SDHA):c.456+4del | 6389 | SDHA | Uncertain significance | -1 | RCV002898775; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225681 | 225681 | | | NC_000005.9:g.225681del | - | | |
NM_004168.4(SDHA):c.456+4A>T | 6389 | SDHA | Uncertain significance | -1 | RCV002881498; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225681 | 225681 | | | NC_000005.9:g.225681A>T | - | | |
NM_004168.4(SDHA):c.456+6G>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 371735891 | RCV000230222|RCV000662807|RCV000998344|RCV002255137|RCV002518337; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, | 5 | 225683 | 225683 | | | 5:g.225683G>T | ClinGen:CA3172829 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.456+6G>C | 6389 | SDHA | Uncertain significance | -1 | RCV002872168; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225683 | 225683 | | | NC_000005.9:g.225683G>C | - | | |
NM_004168.4(SDHA):c.456+8G>A | 6389 | SDHA | Likely benign | 2126547879 | RCV002139773; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225685 | 225685 | | | 225685 | - | | |
NM_004168.4(SDHA):c.456+9C>T | 6389 | SDHA | Likely benign | 200565489 | RCV000436401|RCV000458063|RCV000662487; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225686 | 225686 | | | 5:g.225686C>T | ClinGen:CA3172830 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.456+9C>G | 6389 | SDHA | Likely benign | 200565489 | RCV001400748; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225686 | 225686 | | | 225686 | - | | |
NM_004168.4(SDHA):c.456+10G>A | 6389 | SDHA | Benign/Likely benign | 781436294 | RCV000541963|RCV002476188; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN169374 | 5 | 225687 | 225687 | | | NC_000005.9:g.225687G>A | ClinGen:CA3172831 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.456+12G>C | 6389 | SDHA | Uncertain significance | -1 | RCV002615462; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225689 | 225689 | | | NC_000005.9:g.225689G>C | - | | |
NM_004168.4(SDHA):c.456+14G>A | 6389 | SDHA | Likely benign | -1 | RCV002994619; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225691 | 225691 | | | NC_000005.9:g.225691G>A | - | | |
NM_004168.4(SDHA):c.456+15G>A | 6389 | SDHA | Likely benign | 2126547940 | RCV002194891; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225692 | 225692 | | | 225692 | - | | |
NM_004168.4(SDHA):c.456+15G>T | 6389 | SDHA | Likely benign | -1 | RCV002870948; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225692 | 225692 | | | NC_000005.9:g.225692G>T | - | | |
NM_004168.4(SDHA):c.456+16C>T | 6389 | SDHA | Likely benign | 748175384 | RCV002106459; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225693 | 225693 | | | 225693 | - | | |
NM_004168.4(SDHA):c.456+17T>C | 6389 | SDHA | Likely benign | 1350429949 | RCV001965963; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225694 | 225694 | | | 225694 | - | | |
NM_004168.4(SDHA):c.456+17T>G | 6389 | SDHA | Likely benign | -1 | RCV002825659; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225694 | 225694 | | | NC_000005.9:g.225694T>G | - | | |
NM_004168.4(SDHA):c.456+18C>G | 6389 | SDHA | Likely benign | 770457461 | RCV001890819; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225695 | 225695 | | | 225695 | - | | |
NM_004168.4(SDHA):c.456+19T>C | 6389 | SDHA | Likely benign | 2126547979 | RCV002099882; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225696 | 225696 | | | 225696 | - | | |
NM_004168.4(SDHA):c.456+20G>C | 6389 | SDHA | Benign | 193283468 | RCV000253864|RCV001516477|RCV001528624|RCV002338802|RCV003316405; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C327 | 5 | 225697 | 225697 | | | NC_000005.9:g.225697G>C | ClinGen:CA3172834 | CN169374 not specified; | |
NM_004168.4(SDHA):c.456+20G>A | 6389 | SDHA | Likely benign | -1 | RCV002834306; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225697 | 225697 | | | NC_000005.9:g.225697G>A | - | | |
NM_004168.4(SDHA):c.456+91G>C | 6389 | SDHA | Benign | 12520059 | RCV001544161|RCV001544162|RCV001544163; | N | MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259 | 5 | 225768 | 225768 | | | 225768 | - | | |
NM_004168.4(SDHA):c.457-18_457-3dup | 6389 | SDHA | Likely benign | 1421256041 | RCV002092961; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225979 | 225980 | | | 225979 | - | | |
NM_004168.4(SDHA):c.457-17G>T | 6389 | SDHA | Likely benign | -1 | RCV002966140; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225981 | 225981 | | | NC_000005.9:g.225981G>T | - | | |
NM_004168.4(SDHA):c.457-12del | 6389 | SDHA | Benign | 2126549133 | RCV002156198; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225982 | 225982 | | | 225981 | - | | |
NM_004168.4(SDHA):c.457-16T>C | 6389 | SDHA | Likely benign | 371775474 | RCV002091923; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225982 | 225982 | | | 225982 | - | | |
NM_004168.4(SDHA):c.457-15T>C | 6389 | SDHA | Likely benign | -1 | RCV002651051; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225983 | 225983 | | | NC_000005.9:g.225983T>C | - | | |
NM_004168.4(SDHA):c.457-11A>G | 6389 | SDHA | Likely benign | 748265289 | RCV002220201; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225987 | 225987 | | | 225987 | - | | |
NM_004168.4(SDHA):c.457-9C>T | 6389 | SDHA | Likely benign | 2126549145 | RCV002157454; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225989 | 225989 | | | 225989 | - | | |
NM_004168.4(SDHA):c.457-4A>G | 6389 | SDHA | Likely benign | 770052391 | RCV000554430|RCV002256390; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 225994 | 225994 | | | NC_000005.9:g.225994A>G | ClinGen:CA3172853 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.457-4A>T | 6389 | SDHA | Uncertain significance | -1 | RCV002815178; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225994 | 225994 | | | NC_000005.9:g.225994A>T | - | | |
NM_004168.4(SDHA):c.457-2_457del | 6389 | SDHA | Pathogenic | 878854632 | RCV000231881|RCV001799643|RCV002338730; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015 | 5 | 225995 | 225997 | | | NC_000005.9:g.225996_225998del | ClinGen:CA10582418 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.457-2A>G | 6389 | SDHA | Likely pathogenic | 2126549179 | RCV001379214; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 225996 | 225996 | | | 225996 | - | | |
NM_004168.4(SDHA):c.457-1G>A | 6389 | SDHA | Pathogenic/Likely pathogenic | -1 | RCV002651872|RCV003336806; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225997 | 225997 | | | NC_000005.9:g.225997G>A | - | | |
NM_004168.4(SDHA):c.457C>T (p.Leu153=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | -1 | RCV002342190|RCV003094767; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 225998 | 225998 | | | | - | | |
NM_004168.4(SDHA):c.459A>G (p.Leu153=) | 6389 | SDHA | Likely benign | 2126549200 | RCV002101700; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226000 | 226000 | | | 226000 | - | | |
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys) | 6389 | SDHA | Uncertain significance | 1560987595 | RCV000699059; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226001 | 226001 | | | 5:g.226001G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly) | 6389 | SDHA | Uncertain significance | 777873911 | RCV000570801|RCV000691114; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226002 | 226002 | | | NC_000005.9:g.226002A>G | ClinGen:CA3172854 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser) | 6389 | SDHA | Uncertain significance | 749824479 | RCV000530738|RCV001022840|RCV002293455|RCV003476314; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 226005 | 226005 | | | NC_000005.9:g.226005A>G | ClinGen:CA3172855 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) | 6389 | SDHA | Uncertain significance | 569384870 | RCV000473140|RCV002244940|RCV002329085|RCV002496791; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 226007 | 226007 | | | NC_000005.9:g.226007T>G | ClinGen:CA16611931 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter) | 6389 | SDHA | Pathogenic | 2126549281 | RCV001877276; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226007 | 226008 | | | 226007 | - | | |
NM_004168.4(SDHA):c.466T>C (p.Tyr156His) | 6389 | SDHA | Uncertain significance | -1 | RCV002615062; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226007 | 226007 | | | NC_000005.9:g.226007T>C | - | | |
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe) | 6389 | SDHA | Uncertain significance | 774589410 | RCV001992540; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226008 | 226008 | | | 226008 | - | | |
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter) | 6389 | SDHA | Pathogenic | 989318548 | RCV001063216; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226009 | 226009 | | | 5:g.226009T>G | - | | |
NM_004168.4(SDHA):c.468T>C (p.Tyr156=) | 6389 | SDHA | Likely benign | 989318548 | RCV001501940; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226009 | 226009 | | | 226009 | - | | |
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser) | 6389 | SDHA | Uncertain significance | 1734987233 | RCV001053677; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226010 | 226010 | | | 5:g.226010G>A | - | | |
NM_004168.4(SDHA):c.471C>T (p.Gly157=) | 6389 | SDHA | Likely benign | 1553997722 | RCV000649444|RCV001022948; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226012 | 226012 | | | NC_000005.9:g.226012C>T | ClinGen:CA442691091 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.472A>G (p.Met158Val) | 6389 | SDHA | Uncertain significance | 2126549328 | RCV001891357|RCV003382693; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226013 | 226013 | | | 226013 | - | | |
NM_004168.4(SDHA):c.474G>A (p.Met158Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV003023292; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226015 | 226015 | | | NC_000005.9:g.226015G>A | - | | |
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu) | 6389 | SDHA | Uncertain significance | 759827541 | RCV000219502|RCV000649409|RCV003475022; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 226017 | 226017 | | | 5:g.226017C>T | ClinGen:CA3172858 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.477G>A (p.Pro159=) | 6389 | SDHA | Likely benign | 771741537 | RCV000538620|RCV002341428; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226018 | 226018 | | | NC_000005.9:g.226018G>A | ClinGen:CA3172859 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.477G>T (p.Pro159=) | 6389 | SDHA | Likely benign | 771741537 | RCV000649476|RCV001023031; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226018 | 226018 | | | 5:g.226018G>T | ClinGen:CA442691093 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu) | 6389 | SDHA | Uncertain significance | 775074528 | RCV001921634; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226019 | 226019 | | | 226019 | - | | |
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1060503711 | RCV000467274|RCV000662662|RCV000853253|RCV002341056|RCV003476125; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MON | 5 | 226021 | 226021 | | | NC_000005.9:g.226021T>G | ClinGen:CA16611826 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.480T>C (p.Phe160=) | 6389 | SDHA | Likely benign | 1060503711 | RCV001228166|RCV003163775; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226021 | 226021 | | | 5:g.226021T>C | - | | |
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn) | 6389 | SDHA | Uncertain significance | 2126549411 | RCV001992127; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226023 | 226023 | | | 226023 | - | | |
NM_004168.4(SDHA):c.483C>T (p.Ser161=) | 6389 | SDHA | Likely benign | 2126549418 | RCV001490486; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226024 | 226024 | | | 226024 | - | | |
NM_004168.4(SDHA):c.484del (p.Arg162fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1734988578 | RCV001218027|RCV002497742; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MON | 5 | 226025 | 226025 | | | 5:g.226025_226025del | - | | |
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly) | 6389 | SDHA | Uncertain significance | 1579385526 | RCV001986425; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226025 | 226025 | | | 226025 | - | | |
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr) | 6389 | SDHA | Uncertain significance | 1579385540 | RCV000819046; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226026 | 226026 | | | 5:g.226026G>C | - | | |
NM_004168.4(SDHA):c.486A>G (p.Arg162=) | 6389 | SDHA | Likely benign | 1479127918 | RCV000978609|RCV002337021; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226027 | 226027 | | | 5:g.226027A>G | - | | |
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile) | 6389 | SDHA | Uncertain significance | 375067326 | RCV001326412|RCV002341676|RCV003152761; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226029 | 226029 | | | 226029 | - | | |
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn) | 6389 | SDHA | Uncertain significance | 375067326 | RCV001970693; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226029 | 226029 | | | 226029 | - | | |
NM_004168.4(SDHA):c.492A>G (p.Glu164=) | 6389 | SDHA | Likely benign | -1 | RCV002595811|RCV003349042; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226033 | 226033 | | | | - | | |
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn) | 6389 | SDHA | Uncertain significance | 1734989215 | RCV001365965|RCV002341779; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226034 | 226034 | | | 226034 | - | | |
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly) | 6389 | SDHA | Uncertain significance | 1734989377 | RCV001219829|RCV003163694; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MeSH:D030342,MedGen:C0950123 | 5 | 226035 | 226035 | | | 5:g.226035A>G | - | | |
NM_004168.4(SDHA):c.494A>T (p.Asp165Val) | 6389 | SDHA | Uncertain significance | -1 | RCV002908062; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226035 | 226035 | | | NC_000005.9:g.226035A>T | - | | |
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg) | 6389 | SDHA | Uncertain significance | 1060503712 | RCV000470736; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226037 | 226037 | | | NC_000005.9:g.226037G>A | ClinGen:CA16611865 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu) | 6389 | SDHA | Uncertain significance | -1 | RCV002609894; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226038 | 226038 | | | NC_000005.9:g.226038G>A | - | | |
NM_004168.4(SDHA):c.498G>T (p.Gly166=) | 6389 | SDHA | Uncertain significance | 1579385582 | RCV000813838; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226039 | 226039 | | | 5:g.226039G>T | - | | |
NM_004168.4(SDHA):c.498G>A (p.Gly166=) | 6389 | SDHA | Likely benign | -1 | RCV002342942|RCV003096554; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226039 | 226039 | | | | - | | |
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln) | 6389 | SDHA | Uncertain significance | 763578369 | RCV000707259|RCV002334396; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226040 | 226040 | | | 5:g.226040A>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.502A>G (p.Ile168Val) | 6389 | SDHA | Uncertain significance | 1734989945 | RCV001325409|RCV002341675; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226043 | 226043 | | | 226043 | - | | |
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr) | 6389 | SDHA | Uncertain significance | 1553997748 | RCV000649435; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226044 | 226044 | | | 5:g.226044T>C | ClinGen:CA359010058 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.505T>C (p.Tyr169His) | 6389 | SDHA | Uncertain significance | 1553997754 | RCV000649448|RCV002334185; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226046 | 226046 | | | 5:g.226046T>C | ClinGen:CA359010071 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys) | 6389 | SDHA | Uncertain significance | -1 | RCV002335825|RCV003096600; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226047 | 226047 | | | 226047 | - | | |
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) | 6389 | SDHA | Pathogenic | 1579385645 | RCV000823267; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226049 | 226049 | | | 5:g.226049C>T | - | | |
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys) | 6389 | SDHA | Uncertain significance | 1579385645 | RCV002023950; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226049 | 226049 | | | 226049 | - | | |
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu) | 6389 | SDHA | Uncertain significance | 2126549625 | RCV002008912; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226050 | 226050 | | | 226050 | - | | |
NM_004168.4(SDHA):c.510G>C (p.Gln170His) | 6389 | SDHA | Uncertain significance | 1579385651 | RCV000820842|RCV002257988; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226051 | 226051 | | | 5:g.226051G>C | - | | |
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys) | 6389 | SDHA | Uncertain significance | 776193478 | RCV001237617|RCV001799748|RCV002563895; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MeSH:D030342,Med | 5 | 226052 | 226052 | | | 5:g.226052C>T | - | | |
NM_004168.4(SDHA):c.512G>A (p.Arg171His) | 6389 | SDHA | Uncertain significance | 587782076 | RCV000130572|RCV000466700|RCV000512840|RCV001153308|RCV001153309|RCV001153307|RCV001799623|RCV003474764; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000 | 5 | 226053 | 226053 | | | 5:g.226053G>A | ClinGen:CA166671 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV002344218|RCV003096626; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226053 | 226053 | | | 226053 | - | | |
NM_004168.4(SDHA):c.513T>C (p.Arg171=) | 6389 | SDHA | Benign/Likely benign | 765157205 | RCV000226781|RCV000412315|RCV000441092|RCV001023603; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, | 5 | 226054 | 226054 | | | NC_000005.9:g.226054T>C | ClinGen:CA3172864 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.513T>A (p.Arg171=) | 6389 | SDHA | Likely benign | -1 | RCV002889357; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226054 | 226054 | | | | - | | |
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr) | 6389 | SDHA | Uncertain significance | 1734991441 | RCV001214432; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226055 | 226055 | | | 5:g.226055G>A | - | | |
NM_004168.4(SDHA):c.515C>T (p.Ala172Val) | 6389 | SDHA | Uncertain significance | 1734991593 | RCV001933975; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226056 | 226056 | | | 226056 | - | | |
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu) | 6389 | SDHA | Uncertain significance | -1 | RCV002299585; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226056 | 226056 | | | 226056 | - | | |
NM_004168.4(SDHA):c.516A>G (p.Ala172=) | 6389 | SDHA | Likely benign | 181278759 | RCV000464972|RCV000572674; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226057 | 226057 | | | NC_000005.9:g.226057A>G | ClinGen:CA3172865 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg) | 6389 | SDHA | Uncertain significance | 753004001 | RCV000801943|RCV002336612; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226064 | 226064 | | | 5:g.226064G>A | - | | |
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg) | 6389 | SDHA | Uncertain significance | 753004001 | RCV001023787|RCV001337582; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226064 | 226064 | | | 5:g.226064G>C | - | | |
NM_004168.4(SDHA):c.525A>G (p.Gly175=) | 6389 | SDHA | Likely benign | 2126549734 | RCV001469556; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226066 | 226066 | | | 226066 | - | | |
NM_004168.4(SDHA):c.528G>C (p.Gln176His) | 6389 | SDHA | Uncertain significance | 769454045 | RCV001364421; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226069 | 226069 | | | 226069 | - | | |
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr) | 6389 | SDHA | Uncertain significance | 1553997783 | RCV000649441|RCV002343343; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226071 | 226071 | | | 5:g.226071G>C | ClinGen:CA359010226 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn) | 6389 | SDHA | Uncertain significance | 1553997783 | RCV001296741|RCV002350524; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226071 | 226071 | | | 226071 | - | | |
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002653811; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226071 | 226071 | | | NC_000005.9:g.226071G>T | - | | |
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002615281; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226072 | 226072 | | | NC_000005.9:g.226072C>G | - | | |
NM_004168.4(SDHA):c.534C>T (p.Leu178=) | 6389 | SDHA | Likely benign | 749329370 | RCV000229841|RCV002347888; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226075 | 226075 | | | 5:g.226075C>T | ClinGen:CA3172871 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.537G>A (p.Lys179=) | 6389 | SDHA | Likely benign | 1207914111 | RCV000938432|RCV002346131; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226078 | 226078 | | | 5:g.226078G>A | - | | |
NM_004168.4(SDHA):c.540T>C (p.Phe180=) | 6389 | SDHA | Likely benign | 2126549842 | RCV001499962; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226081 | 226081 | | | 226081 | - | | |
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg) | 6389 | SDHA | Uncertain significance | 1305547879 | RCV002009805|RCV003170333; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226082 | 226082 | | | 226082 | - | | |
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002644218; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226086 | 226086 | | | NC_000005.9:g.226086A>G | - | | |
NM_004168.4(SDHA):c.546G>A (p.Lys182=) | 6389 | SDHA | Likely benign | 757707693 | RCV000649488|RCV002343346; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226087 | 226087 | | | 5:g.226087G>A | ClinGen:CA3172873 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp) | 6389 | SDHA | Uncertain significance | 1734993975 | RCV001219211; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226089 | 226089 | | | 5:g.226089G>A | - | | |
NM_004168.4(SDHA):c.549C>T (p.Gly183=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 61733344 | RCV000239367|RCV000291747|RCV000339713|RCV000394814|RCV000418051|RCV000571465|RCV001800618|RCV003316320; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100 | 5 | 226090 | 226090 | | | NC_000005.9:g.226090C>T | ClinGen:CA3172874 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) | 6389 | SDHA | Benign/Likely benign | 148246073 | RCV000343277|RCV000304507|RCV000390055|RCV000514856|RCV000575599|RCV000607544|RCV001080182|RCV003316148; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016 | 5 | 226091 | 226091 | | | NC_000005.9:g.226091G>A | ClinGen:CA348484 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala) | 6389 | SDHA | Uncertain significance | 1579385819 | RCV001024215|RCV001369871; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226092 | 226092 | | | 5:g.226092G>C | - | | |
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu) | 6389 | SDHA | Uncertain significance | 1579385819 | RCV001305199|RCV003135944|RCV003294234; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226092 | 226092 | | | 226092 | - | | |
NM_004168.4(SDHA):c.552G>A (p.Gly184=) | 6389 | SDHA | Likely benign | 147444427 | RCV000871614|RCV002346006; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226093 | 226093 | | | 5:g.226093G>A | - | | |
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) | 6389 | SDHA | Pathogenic | 775827529 | RCV000575535|RCV000702668|RCV003159959|RCV003476321; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 226094 | 226094 | | | 5:g.226094C>T | ClinGen:CA3172876 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu) | 6389 | SDHA | Uncertain significance | 775827529 | RCV001024247|RCV001070085|RCV003473597; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 226094 | 226094 | | | 5:g.226094C>G | - | | |
NM_004168.4(SDHA):c.554dup (p.Ala186fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1173940446 | RCV001384161|RCV002350731|RCV003132489; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 226094 | 226095 | | | 226094 | - | | |
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002815599|RCV003274043; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226097 | 226097 | | | NC_000005.9:g.226097G>T | - | | |
NM_004168.4(SDHA):c.557C>T (p.Ala186Val) | 6389 | SDHA | Uncertain significance | 2126550013 | RCV001981081|RCV002346254; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226098 | 226098 | | | 226098 | - | | |
NM_004168.4(SDHA):c.558C>T (p.Ala186=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 199618059 | RCV000649483|RCV001155907|RCV001155908|RCV001155909|RCV002343344; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:000 | 5 | 226099 | 226099 | | | NC_000005.9:g.226099C>T | ClinGen:CA3172877 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.559C>T (p.His187Tyr) | 6389 | SDHA | Uncertain significance | 1579385898 | RCV000801803|RCV002507389; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO | 5 | 226100 | 226100 | | | 5:g.226100C>T | - | | |
NM_004168.4(SDHA):c.560A>G (p.His187Arg) | 6389 | SDHA | Uncertain significance | 1236616384 | RCV001303050; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226101 | 226101 | | | 226101 | - | | |
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) | 6389 | SDHA | Likely pathogenic | 553257776 | RCV000555353|RCV000571189|RCV003335474; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226103 | 226103 | | | NC_000005.9:g.226103C>T | ClinGen:CA3172879 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.562C>A (p.Arg188=) | 6389 | SDHA | Likely benign | 553257776 | RCV001437405; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226103 | 226103 | | | 226103 | - | | |
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 139881415 | RCV000518854|RCV000531381|RCV001024356|RCV003335449|RCV003330742; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 226104 | 226104 | | | 5:g.226104G>A | ClinGen:CA3172880 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.564G>A (p.Arg188=) | 6389 | SDHA | Likely benign | 1579385933 | RCV001024366|RCV001493597; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226105 | 226105 | | | 5:g.226105G>A | - | | |
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg) | 6389 | SDHA | Uncertain significance | 1734996495 | RCV001309048; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226106 | 226106 | | | 226106 | - | | |
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg) | 6389 | SDHA | Uncertain significance | 908267345 | RCV001043245|RCV002258097; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226109 | 226109 | | | 5:g.226109T>C | - | | |
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser) | 6389 | SDHA | Uncertain significance | 908267345 | RCV002023582; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226109 | 226109 | | | 226109 | - | | |
NM_004168.4(SDHA):c.570C>T (p.Cys190=) | 6389 | SDHA | Likely benign | 1060505008 | RCV001394415|RCV002350047; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226111 | 226111 | | | NC_000005.9:g.226111C>T | ClinGen:CA16611936 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg) | 6389 | SDHA | Uncertain significance | 2126550176 | RCV001972911; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226112 | 226112 | | | 226112 | - | | |
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr) | 6389 | SDHA | Uncertain significance | 1393298155 | RCV001339874|RCV003169607; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226113 | 226113 | | | 226113 | - | | |
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser) | 6389 | SDHA | Uncertain significance | 1393298155 | RCV001373494|RCV003473889; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 226113 | 226113 | | | 226113 | - | | |
NM_004168.4(SDHA):c.573T>C (p.Cys191=) | 6389 | SDHA | Likely benign | 765111856 | RCV000940696|RCV001024470; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226114 | 226114 | | | 5:g.226114T>C | - | | |
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly) | 6389 | SDHA | Uncertain significance | 1734997662 | RCV001040886; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226119 | 226119 | | | 5:g.226119C>G | - | | |
NM_004168.4(SDHA):c.578C>T (p.Ala193Val) | 6389 | SDHA | Uncertain significance | 1734997662 | RCV001036295; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226119 | 226119 | | | 5:g.226119C>T | - | | |
NM_004168.4(SDHA):c.582T>C (p.Asp194=) | 6389 | SDHA | Likely benign | -1 | RCV002917946; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226123 | 226123 | | | | - | | |
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) | 6389 | SDHA | Uncertain significance | 1337777456 | RCV001060414|RCV001157610|RCV001157611|RCV001155910|RCV003473672; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO | 5 | 226124 | 226124 | | | 5:g.226124C>T | - | | |
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly) | 6389 | SDHA | Uncertain significance | 1337777456 | RCV002018269; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226124 | 226124 | | | 226124 | - | | |
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) | 6389 | SDHA | Uncertain significance | 762956849 | RCV000544157|RCV002358584|RCV002491086; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 226125 | 226125 | | | NC_000005.9:g.226125G>A | ClinGen:CA3172883 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.585G>C (p.Arg195=) | 6389 | SDHA | Likely benign | 766339992 | RCV000868956|RCV001024612|RCV002501285; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 226126 | 226126 | | | 5:g.226126G>C | - | | |
NM_004168.4(SDHA):c.585G>A (p.Arg195=) | 6389 | SDHA | Likely benign | 766339992 | RCV001414234; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226126 | 226126 | | | 226126 | - | | |
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002717387; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226127 | 226127 | | | NC_000005.9:g.226127A>G | - | | |
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile) | 6389 | SDHA | Uncertain significance | 1560987863 | RCV000698681; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226128 | 226128 | | | 5:g.226128C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.588T>C (p.Thr196=) | 6389 | SDHA | Likely benign | 1278276778 | RCV001463741|RCV002359034; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226129 | 226129 | | | 226129 | - | | |
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg) | 6389 | SDHA | Uncertain significance | 1560987881 | RCV000692173; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226130 | 226130 | | | NC_000005.9:g.226130G>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser) | 6389 | SDHA | Uncertain significance | 1560987881 | RCV001909660; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226130 | 226130 | | | 226130 | - | | |
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp) | 6389 | SDHA | Uncertain significance | 1579386052 | RCV000797002; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226131 | 226131 | | | 5:g.226131G>A | - | | |
NM_004168.4(SDHA):c.591C>G (p.Gly197=) | 6389 | SDHA | Likely benign | -1 | RCV002889464; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226132 | 226132 | | | | - | | |
NM_004168.4(SDHA):c.594C>T (p.His198=) | 6389 | SDHA | Likely benign | 1579386061 | RCV001409537|RCV002258054; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226135 | 226135 | | | 5:g.226135C>T | - | | |
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr) | 6389 | SDHA | Uncertain significance | 770407681 | RCV000800619|RCV001024725|RCV003472363; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 226136 | 226136 | | | 5:g.226136T>A | - | | |
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu) | 6389 | SDHA | Uncertain significance | 878854633 | RCV000232616|RCV002354654; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226137 | 226137 | | | 5:g.226137C>T | ClinGen:CA10582419 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.597G>A (p.Ser199=) | 6389 | SDHA | Benign/Likely benign | 141874250 | RCV000469362|RCV000569336; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226138 | 226138 | | | NC_000005.9:g.226138G>A | ClinGen:CA3172886 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.597G>T (p.Ser199=) | 6389 | SDHA | Likely benign | 141874250 | RCV001432038; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226138 | 226138 | | | 226138 | - | | |
NM_004168.4(SDHA):c.598C>T (p.Leu200=) | 6389 | SDHA | Likely benign | 764307917 | RCV000475350|RCV000568755; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226139 | 226139 | | | NC_000005.9:g.226139C>T | ClinGen:CA3172887 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile) | 6389 | SDHA | Uncertain significance | 764307917 | RCV001945888|RCV003167297|RCV003475179; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 226139 | 226139 | | | 226139 | - | | |
NM_004168.4(SDHA):c.600A>G (p.Leu200=) | 6389 | SDHA | Benign/Likely benign | 201967413 | RCV000239373|RCV000572465|RCV002479952; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 226141 | 226141 | | | NC_000005.9:g.226141A>G | ClinGen:CA3172888 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser) | 6389 | SDHA | Uncertain significance | 150646390 | RCV001058277; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226143 | 226143 | | | 5:g.226143T>C | - | | |
NM_004168.4(SDHA):c.603G>A (p.Leu201=) | 6389 | SDHA | Likely benign | 2126550482 | RCV001483727|RCV002359087; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226144 | 226144 | | | 226144 | - | | |
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) | 6389 | SDHA | Uncertain significance | 373340696 | RCV000458356|RCV000575357|RCV002481480|RCV003128946|RCV003476123; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 226148 | 226148 | | | NC_000005.9:g.226148A>G | ClinGen:CA3172890 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile) | 6389 | SDHA | Uncertain significance | 1735001122 | RCV001218178|RCV003473769; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 226149 | 226149 | | | 5:g.226149C>T | - | | |
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser) | 6389 | SDHA | Uncertain significance | 1735001122 | RCV001879242; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226149 | 226149 | | | 226149 | - | | |
NM_004168.4(SDHA):c.612A>G (p.Leu204=) | 6389 | SDHA | Likely benign | 1735001336 | RCV001864725; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226153 | 226153 | | | 226153 | - | | |
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) | 6389 | SDHA | Uncertain significance | 61754481 | RCV000471598|RCV000575607|RCV000764602|RCV001848822|RCV003476119; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO | 5 | 226154 | 226154 | | | NC_000005.9:g.226154T>C | ClinGen:CA3172891 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) | 6389 | SDHA | Pathogenic | 876658486 | RCV000221025|RCV000798190|RCV003316203; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226156 | 226156 | | | NC_000005.9:g.226156T>A | ClinGen:CA10578627 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.615T>C (p.Tyr205=) | 6389 | SDHA | Likely benign | 876658486 | RCV002202864; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226156 | 226156 | | | 226156 | - | | |
NM_004168.4(SDHA):c.619A>C (p.Arg207=) | 6389 | SDHA | Benign | 6555055 | RCV000118319|RCV000162480|RCV000298743|RCV000263653|RCV000355926|RCV001509668|RCV001705862|RCV003315683; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:2907 | 5 | 226160 | 226160 | | | 5:g.226160A>C | ClinGen:CA155156 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) | 6389 | SDHA | Pathogenic | 1579386206 | RCV000818060; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226160 | 226161 | | | 5:g.226161_226161del | - | | |
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp) | 6389 | SDHA | Uncertain significance | 6555055 | RCV001046070; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226160 | 226160 | | | 5:g.226160A>T | - | | |
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly) | 6389 | SDHA | Uncertain significance | 6555055 | RCV001301154; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226160 | 226160 | | | 226160 | - | | |
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln) | 6389 | SDHA | Uncertain significance | 2126550631 | RCV001890610|RCV002359349; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226160 | 226161 | | | 226160 | - | | |
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys) | 6389 | SDHA | Uncertain significance | 780411478 | RCV001202794|RCV003163526; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 226161 | 226161 | | | 5:g.226161G>A | - | | |
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr) | 6389 | SDHA | Uncertain significance | 780411478 | RCV001242941; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226161 | 226161 | | | 5:g.226161G>C | - | | |
NM_004168.4(SDHA):c.621G>A (p.Arg207=) | 6389 | SDHA | Uncertain significance | 2126550683 | RCV001906920; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226162 | 226162 | | | 226162 | - | | |
NM_004168.4(SDHA):c.621+1G>A | 6389 | SDHA | Likely pathogenic | 1735002961 | RCV001050872; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226163 | 226163 | | | 5:g.226163G>A | - | | |
NM_004168.4(SDHA):c.621+8C>T | 6389 | SDHA | Likely benign | 201091275 | RCV000227518; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226170 | 226170 | | | 5:g.226170C>T | ClinGen:CA3172893 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.621+9G>A | 6389 | SDHA | Likely benign | 1060505005 | RCV000470380; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226171 | 226171 | | | NC_000005.9:g.226171G>A | ClinGen:CA16612052 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.621+9G>C | 6389 | SDHA | Likely benign | -1 | RCV002780364; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226171 | 226171 | | | NC_000005.9:g.226171G>C | - | | |
NM_004168.4(SDHA):c.621+10C>T | 6389 | SDHA | Likely benign | 1458669735 | RCV001481386; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226172 | 226172 | | | 226172 | - | | |
NM_004168.4(SDHA):c.621+11C>A | 6389 | SDHA | Likely benign | 2126550755 | RCV002176189; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226173 | 226173 | | | 226173 | - | | |
NM_004168.4(SDHA):c.621+11C>T | 6389 | SDHA | Likely benign | -1 | RCV002953299; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226173 | 226173 | | | NC_000005.9:g.226173C>T | - | | |
NM_004168.4(SDHA):c.621+12C>T | 6389 | SDHA | Likely benign | -1 | RCV003110248; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226174 | 226174 | | | NC_000005.9:g.226174C>T | - | | |
NM_004168.4(SDHA):c.621+13C>T | 6389 | SDHA | Likely benign | 2126550780 | RCV002156100; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226175 | 226175 | | | 226175 | - | | |
NM_004168.4(SDHA):c.621+14C>T | 6389 | SDHA | Likely benign | 776301796 | RCV002139995; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226176 | 226176 | | | 226176 | - | | |
NM_004168.4(SDHA):c.621+15G>A | 6389 | SDHA | Likely benign | 747737117 | RCV002196836; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226177 | 226177 | | | 226177 | - | | |
NM_004168.4(SDHA):c.621+15G>T | 6389 | SDHA | Likely benign | -1 | RCV002894395; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226177 | 226177 | | | NC_000005.9:g.226177G>T | - | | |
NM_004168.4(SDHA):c.621+16T>C | 6389 | SDHA | Likely benign | 769390635 | RCV000613395|RCV002063187; | N | MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226178 | 226178 | | | 5:g.226178T>C | ClinGen:CA3172897 | CN169374 not specified; | |
NM_004168.4(SDHA):c.621+17C>T | 6389 | SDHA | Likely benign | 2126550811 | RCV002195398; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226179 | 226179 | | | 226179 | - | | |
NM_004168.4(SDHA):c.621+18C>T | 6389 | SDHA | Likely benign | 1735004595 | RCV002074489; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226180 | 226180 | | | 226180 | - | | |
NM_004168.4(SDHA):c.621+18C>G | 6389 | SDHA | Likely benign | -1 | RCV002770699; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226180 | 226180 | | | NC_000005.9:g.226180C>G | - | | |
NM_004168.4(SDHA):c.621+19A>T | 6389 | SDHA | Likely benign | 772849135 | RCV002167508; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226181 | 226181 | | | 226181 | - | | |
NM_004168.4(SDHA):c.621+19A>G | 6389 | SDHA | Likely benign | 772849135 | RCV002139657; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 226181 | 226181 | | | 226181 | - | | |
NM_004168.4(SDHA):c.621+20C>T | 6389 | SDHA | Likely benign | -1 | RCV002895260; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 226182 | 226182 | | | NC_000005.9:g.226182C>T | - | | |
NM_004168.4(SDHA):c.622-7_622-4del | 6389 | SDHA | Likely benign | 2126557982 | RCV001456681; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228289 | 228292 | | | 228288 | - | | |
NM_004168.4(SDHA):c.622-8del | 6389 | SDHA | Likely benign | 777777373 | RCV000908417; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228290 | 228290 | | | 5:g.228290_228290del | - | | |
NM_004168.4(SDHA):c.622-8T>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 370714378 | RCV000233358|RCV000411772|RCV000427201; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 228292 | 228292 | | | 5:g.228292T>C | ClinGen:CA3172923 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.622-7C>T | 6389 | SDHA | Likely benign | 759371428 | RCV000951952|RCV000987494; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228293 | 228293 | | | 5:g.228293C>T | - | | |
NM_004168.4(SDHA):c.622-5T>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 878854634 | RCV000229170|RCV000569503; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228295 | 228295 | | | NC_000005.9:g.228295T>C | ClinGen:CA10582420 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.622-4T>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1579390820 | RCV000884513|RCV002363325; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228296 | 228296 | | | 5:g.228296T>C | - | | |
NM_004168.4(SDHA):c.622-1G>A | 6389 | SDHA | Likely pathogenic | 1285132774 | RCV000649416; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228299 | 228299 | | | NC_000005.9:g.228299G>A | ClinGen:CA359010778 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV003079058; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228300 | 228300 | | | NC_000005.9:g.228300T>C | - | | |
NM_004168.4(SDHA):c.625C>G (p.Leu209Val) | 6389 | SDHA | Uncertain significance | -1 | RCV002838706; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228303 | 228303 | | | NC_000005.9:g.228303C>G | - | | |
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro) | 6389 | SDHA | Uncertain significance | 1579390858 | RCV001025064|RCV001369092; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228304 | 228304 | | | 5:g.228304T>C | - | | |
NM_004168.4(SDHA):c.627G>A (p.Leu209=) | 6389 | SDHA | Likely benign | 149821224 | RCV000458176|RCV002367620; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228305 | 228305 | | | NC_000005.9:g.228305G>A | ClinGen:CA3172925 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) | 6389 | SDHA | Pathogenic/Likely pathogenic | 775143272 | RCV000649430|RCV001025088|RCV001799694|RCV003472044; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D0 | 5 | 228306 | 228306 | | | NC_000005.9:g.228306C>T | ClinGen:CA3172926 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln) | 6389 | SDHA | Uncertain significance | 762108779 | RCV000687867|RCV001025100; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228307 | 228307 | | | NC_000005.9:g.228307G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.630A>G (p.Arg210=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1579390913 | RCV001025116|RCV001045034; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228308 | 228308 | | | 5:g.228308A>G | - | | |
NM_004168.4(SDHA):c.630A>T (p.Arg210=) | 6389 | SDHA | Likely benign | 1579390913 | RCV001418168|RCV002368310; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228308 | 228308 | | | 228308 | - | | |
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys) | 6389 | SDHA | Uncertain significance | 1235961098 | RCV000793019|RCV002360914; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228310 | 228310 | | | 5:g.228310A>G | - | | |
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe) | 6389 | SDHA | Uncertain significance | 1235961098 | RCV001224819|RCV002366013; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228310 | 228310 | | | 5:g.228310A>T | - | | |
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter) | 6389 | SDHA | Pathogenic | 1307665893 | RCV002037896|RCV002361297; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228311 | 228311 | | | 228311 | - | | |
NM_004168.4(SDHA):c.633T>C (p.Tyr211=) | 6389 | SDHA | Likely benign | 1307665893 | RCV002167974|RCV002361434; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228311 | 228311 | | | 228311 | - | | |
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly) | 6389 | SDHA | Uncertain significance | 750531440 | RCV001217329; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228313 | 228313 | | | 5:g.228313A>G | - | | |
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn) | 6389 | SDHA | Uncertain significance | 766421069 | RCV000472577; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228316 | 228316 | | | NC_000005.9:g.228316C>A | ClinGen:CA16611866 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile) | 6389 | SDHA | Uncertain significance | 766421069 | RCV001236994; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228316 | 228316 | | | 5:g.228316C>T | - | | |
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly) | 6389 | SDHA | Uncertain significance | 752144637 | RCV000706981|RCV002360833; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228318 | 228318 | | | NC_000005.9:g.228318A>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn) | 6389 | SDHA | Uncertain significance | 755432673 | RCV000571276|RCV001044490; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228319 | 228319 | | | 5:g.228319G>A | ClinGen:CA3172933 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) | 6389 | SDHA | Pathogenic | 1560989804 | RCV000690156; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228321 | 228322 | | | NC_000005.9:g.228322_228323del | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys) | 6389 | SDHA | Uncertain significance | 781660628 | RCV000808922|RCV002363084; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228322 | 228322 | | | 5:g.228322A>G | - | | |
NM_004168.4(SDHA):c.645T>C (p.Tyr215=) | 6389 | SDHA | Likely benign | -1 | RCV002361895|RCV003098256; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228323 | 228323 | | | | - | | |
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu) | 6389 | SDHA | Uncertain significance | 1735162987 | RCV001212719; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228324 | 228324 | | | 5:g.228324T>C | - | | |
NM_004168.4(SDHA):c.649G>C (p.Val217Leu) | 6389 | SDHA | Uncertain significance | 1735163272 | RCV001039092; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228327 | 228327 | | | 5:g.228327G>C | - | | |
NM_004168.4(SDHA):c.653A>T (p.Glu218Val) | 6389 | SDHA | Uncertain significance | 1735163544 | RCV001218571; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228331 | 228331 | | | 5:g.228331A>T | - | | |
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp) | 6389 | SDHA | Uncertain significance | -1 | RCV002301576; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228332 | 228332 | | | 228332 | - | | |
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly) | 6389 | SDHA | Uncertain significance | 1735163984 | RCV001340648; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228340 | 228340 | | | 228340 | - | | |
NM_004168.4(SDHA):c.663C>T (p.Ala221=) | 6389 | SDHA | Likely benign | 1579391069 | RCV001418916|RCV003307727; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228341 | 228341 | | | 5:g.228341C>T | - | | |
NM_004168.4(SDHA):c.663C>G (p.Ala221=) | 6389 | SDHA | Likely benign | 1579391069 | RCV002207092; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228341 | 228341 | | | 228341 | - | | |
NM_004168.4(SDHA):c.664T>G (p.Leu222Val) | 6389 | SDHA | Uncertain significance | 1553998191 | RCV000545927|RCV002367927; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228342 | 228342 | | | NC_000005.9:g.228342T>G | ClinGen:CA359010887 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002997031; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228343 | 228343 | | | NC_000005.9:g.228343T>C | - | | |
NM_004168.4(SDHA):c.667del (p.Asp223fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 587782077 | RCV000130573|RCV000527052|RCV001008075|RCV003474765; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 228344 | 228344 | | | 5:g.228344_228344del | ClinGen:CA166673 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe) | 6389 | SDHA | Uncertain significance | 778256616 | RCV000463550|RCV002293444; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN517202 | 5 | 228344 | 228344 | | | NC_000005.9:g.228344G>T | ClinGen:CA3172940 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr) | 6389 | SDHA | Uncertain significance | 1579391108 | RCV000795749; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228345 | 228345 | | | 5:g.228345G>T | - | | |
NM_004168.4(SDHA):c.667G>C (p.Asp223His) | 6389 | SDHA | Uncertain significance | 1579391108 | RCV001025527|RCV001341508; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228345 | 228345 | | | 5:g.228345G>C | - | | |
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala) | 6389 | SDHA | Uncertain significance | 2126558436 | RCV002030099|RCV003164013; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228346 | 228346 | | | 228346 | - | | |
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe) | 6389 | SDHA | Uncertain significance | -1 | RCV002367197|RCV003103323|RCV003475354; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 228348 | 228348 | | | 228348 | - | | |
NM_004168.4(SDHA):c.672C>T (p.Leu224=) | 6389 | SDHA | Likely benign | 2126558458 | RCV001426749; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228350 | 228350 | | | 228350 | - | | |
NM_004168.4(SDHA):c.673C>T (p.Leu225=) | 6389 | SDHA | Likely benign | 1579391116 | RCV000924942|RCV002372570; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228351 | 228351 | | | 5:g.228351C>T | - | | |
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro) | 6389 | SDHA | Uncertain significance | 2126558482 | RCV001995465; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228352 | 228352 | | | 228352 | - | | |
NM_004168.4(SDHA):c.675G>C (p.Leu225=) | 6389 | SDHA | Likely benign | 1367248054 | RCV000925912|RCV002372572; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228353 | 228353 | | | 5:g.228353G>C | - | | |
NM_004168.4(SDHA):c.675G>A (p.Leu225=) | 6389 | SDHA | Likely benign | 1367248054 | RCV001025621|RCV001395754; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228353 | 228353 | | | 5:g.228353G>A | - | | |
NM_004168.4(SDHA):c.676A>T (p.Met226Leu) | 6389 | SDHA | Uncertain significance | 1579391135 | RCV000796563; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228354 | 228354 | | | 5:g.228354A>T | - | | |
NM_004168.4(SDHA):c.677T>C (p.Met226Thr) | 6389 | SDHA | Uncertain significance | 1735165932 | RCV001299483; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228355 | 228355 | | | 228355 | - | | |
NM_004168.4(SDHA):c.677T>A (p.Met226Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002993816; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228355 | 228355 | | | NC_000005.9:g.228355T>A | - | | |
NM_004168.4(SDHA):c.678G>A (p.Met226Ile) | 6389 | SDHA | Uncertain significance | 745884899 | RCV000687038; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228356 | 228356 | | | NC_000005.9:g.228356G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr) | 6389 | SDHA | Uncertain significance | 2126558556 | RCV001908935; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228360 | 228360 | | | 228360 | - | | |
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser) | 6389 | SDHA | Uncertain significance | 2126558564 | RCV001894346|RCV002256852; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228361 | 228361 | | | 228361 | - | | |
NM_004168.4(SDHA):c.684T>C (p.Asn228=) | 6389 | SDHA | Benign | 2115272 | RCV000118320|RCV000162481|RCV000311792|RCV000276689|RCV000368927|RCV001705863|RCV001509669|RCV003315684; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50 | 5 | 228362 | 228362 | | | 5:g.228362T>C | ClinGen:CA155158 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.688del (p.Glu230fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1553998199 | RCV000551986|RCV000566076|RCV000853371|RCV001783056|RCV002491084|RCV003476305; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 228363 | 228363 | | | NC_000005.9:g.228366del | ClinGen:CA658657421 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.687G>A (p.Gly229=) | 6389 | SDHA | Likely benign | 775359678 | RCV000865278|RCV002372419; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228365 | 228365 | | | 5:g.228365G>A | - | | |
NM_004168.4(SDHA):c.687G>C (p.Gly229=) | 6389 | SDHA | Likely benign | 775359678 | RCV001495131; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228365 | 228365 | | | 228365 | - | | |
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln) | 6389 | SDHA | Uncertain significance | 1436777353 | RCV000649449|RCV002369739|RCV003472046; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 228366 | 228366 | | | NC_000005.9:g.228366G>C | ClinGen:CA359010941 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002942789|RCV003308357; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228366 | 228366 | | | NC_000005.9:g.228366G>A | - | | |
NM_004168.4(SDHA):c.693C>T (p.Cys231=) | 6389 | SDHA | Likely benign | -1 | RCV003082552; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228371 | 228371 | | | | - | | |
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) | 6389 | SDHA | Uncertain significance | 878854635 | RCV000231015|RCV000764603|RCV001025834|RCV003329265; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO | 5 | 228372 | 228372 | | | NC_000005.9:g.228372C>T | ClinGen:CA10582421 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.695G>A (p.Arg232His) | 6389 | SDHA | Uncertain significance | 1060503708 | RCV000473347|RCV001025841; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228373 | 228373 | | | NC_000005.9:g.228373G>A | ClinGen:CA16611867 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.696T>G (p.Arg232=) | 6389 | SDHA | Likely benign | -1 | RCV002848397; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228374 | 228374 | | | | - | | |
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser) | 6389 | SDHA | Uncertain significance | 2126558729 | RCV001976993|RCV003170418; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228375 | 228375 | | | 228375 | - | | |
NM_004168.4(SDHA):c.698G>T (p.Gly233Val) | 6389 | SDHA | Uncertain significance | 878854636 | RCV000233811|RCV001799644|RCV002372275; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015 | 5 | 228376 | 228376 | | | 5:g.228376G>T | ClinGen:CA10582422 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp) | 6389 | SDHA | Uncertain significance | 878854636 | RCV001991733; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228376 | 228376 | | | 228376 | - | | |
NM_004168.4(SDHA):c.699del (p.Val234fs) | 6389 | SDHA | Pathogenic | 1175771583 | RCV001240188; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228377 | 228377 | | | 5:g.228377_228377del | - | | |
NM_004168.4(SDHA):c.700G>A (p.Val234Ile) | 6389 | SDHA | Uncertain significance | 2126558764 | RCV001952662; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228378 | 228378 | | | 228378 | - | | |
NM_004168.4(SDHA):c.702C>T (p.Val234=) | 6389 | SDHA | Likely benign | 1205748459 | RCV002097689; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228380 | 228380 | | | 228380 | - | | |
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) | 6389 | SDHA | Uncertain significance | 144513891 | RCV000203953|RCV000410184|RCV000562815|RCV001197548|RCV001582713|RCV002478742; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 228382 | 228382 | | | 5:g.228382T>C | ClinGen:CA348232 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.705C>T (p.Ile235=) | 6389 | SDHA | Likely benign | 549892491 | RCV000570641|RCV000604923|RCV000649478; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228383 | 228383 | | | 5:g.228383C>T | ClinGen:CA3172945 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr) | 6389 | SDHA | Uncertain significance | 774160524 | RCV000558609|RCV002367928|RCV003476315; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 228384 | 228384 | | | 5:g.228384G>A | ClinGen:CA3172946 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.707C>T (p.Ala236Val) | 6389 | SDHA | Uncertain significance | 1060503703 | RCV000458180|RCV002365668|RCV002469160; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 228385 | 228385 | | | NC_000005.9:g.228385C>T | ClinGen:CA16611938 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.708A>G (p.Ala236=) | 6389 | SDHA | Likely benign | 774277601 | RCV002171005; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228386 | 228386 | | | 228386 | - | | |
NM_004168.4(SDHA):c.709C>T (p.Leu237=) | 6389 | SDHA | Likely benign | 1735173554 | RCV001399848|RCV002368256; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228387 | 228387 | | | 228387 | - | | |
NM_004168.4(SDHA):c.709C>G (p.Leu237Val) | 6389 | SDHA | Uncertain significance | -1 | RCV003048559|RCV003274168; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228387 | 228387 | | | NC_000005.9:g.228387C>G | - | | |
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly) | 6389 | SDHA | Uncertain significance | 1579391373 | RCV001026073|RCV001222388; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228390 | 228390 | | | 5:g.228390T>G | - | | |
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe) | 6389 | SDHA | Uncertain significance | 1168458733 | RCV000534290; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228391 | 228391 | | | NC_000005.9:g.228391G>T | ClinGen:CA359011016 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser) | 6389 | SDHA | Uncertain significance | 1168458733 | RCV002030218; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228391 | 228391 | | | 228391 | - | | |
NM_004168.4(SDHA):c.714C>T (p.Cys238=) | 6389 | SDHA | Likely benign | -1 | RCV002917959; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228392 | 228392 | | | | - | | |
NM_004168.4(SDHA):c.715A>G (p.Ile239Val) | 6389 | SDHA | Uncertain significance | 760106352 | RCV000461851|RCV000561650; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228393 | 228393 | | | NC_000005.9:g.228393A>G | ClinGen:CA3172948 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu) | 6389 | SDHA | Uncertain significance | 760106352 | RCV001325600|RCV002366202; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228393 | 228393 | | | 228393 | - | | |
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu) | 6389 | SDHA | Uncertain significance | 760106352 | RCV001872132; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228393 | 228393 | | | 228393 | - | | |
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr) | 6389 | SDHA | Uncertain significance | 1466069757 | RCV001982370|RCV003434368; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 228394 | 228394 | | | 228394 | - | | |
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV003475525|RCV003106870|RCV003420549; | N | MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 228394 | 228394 | | | NC_000005.9:g.228394T>G | - | | |
NM_004168.4(SDHA):c.717A>T (p.Ile239=) | 6389 | SDHA | Likely benign | -1 | RCV003082869; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228395 | 228395 | | | | - | | |
NM_004168.4(SDHA):c.720_722del (p.Glu240del) | 6389 | SDHA | Uncertain significance | 1560990000 | RCV000688908; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228396 | 228398 | | | NC_000005.9:g.228398_228400del | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys) | 6389 | SDHA | Uncertain significance | 1041946 | RCV001049666; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228396 | 228396 | | | 5:g.228396G>A | - | | |
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) | 6389 | SDHA | Pathogenic | 1553998229 | RCV000649431|RCV003456112; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228398 | 228402 | | | 5:g.228398_228402del | ClinGen:CA658796485 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.720G>A (p.Glu240=) | 6389 | SDHA | Likely benign | 1579391431 | RCV001026161|RCV002552407; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228398 | 228398 | | | 5:g.228398G>A | - | | |
NM_004168.4(SDHA):c.723C>T (p.Asp241=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 146653693 | RCV000275715|RCV000334152|RCV000381733|RCV000457962|RCV000562470|RCV001529253|RCV001821078; | N | MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:00136 | 5 | 228401 | 228401 | | | NC_000005.9:g.228401C>T | ClinGen:CA3172951 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg) | 6389 | SDHA | Uncertain significance | 764534044 | RCV000227862|RCV001026197|RCV003475077; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 228402 | 228402 | | | NC_000005.9:g.228402G>A | ClinGen:CA3172953 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.726G>A (p.Gly242=) | 6389 | SDHA | Likely benign | 2126559012 | RCV002144391|RCV002382437; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228404 | 228404 | | | 228404 | - | | |
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe) | 6389 | SDHA | Uncertain significance | 756966025 | RCV000551321|RCV002384223; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228406 | 228406 | | | NC_000005.9:g.228406C>T | ClinGen:CA3172954 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys) | 6389 | SDHA | Uncertain significance | 756966025 | RCV001224708; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228406 | 228406 | | | 5:g.228406C>G | - | | |
NM_004168.4(SDHA):c.729C>T (p.Ser243=) | 6389 | SDHA | Likely benign | 778543446 | RCV001492789|RCV002258287; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228407 | 228407 | | | 228407 | - | | |
NM_004168.4(SDHA):c.730A>G (p.Ile244Val) | 6389 | SDHA | Uncertain significance | 1162393515 | RCV000818938|RCV002381853; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228408 | 228408 | | | 5:g.228408A>G | - | | |
NM_004168.4(SDHA):c.733C>G (p.His245Asp) | 6389 | SDHA | Uncertain significance | 1060503716 | RCV000456392; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228411 | 228411 | | | NC_000005.9:g.228411C>G | ClinGen:CA16611831 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.734A>G (p.His245Arg) | 6389 | SDHA | Uncertain significance | 1579391515 | RCV001026306|RCV001862365; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228412 | 228412 | | | 5:g.228412A>G | - | | |
NM_004168.4(SDHA):c.734A>T (p.His245Leu) | 6389 | SDHA | Uncertain significance | 1579391515 | RCV001054031; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228412 | 228412 | | | 5:g.228412A>T | - | | |
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys) | 6389 | SDHA | Uncertain significance | 1579391530 | RCV001026333|RCV001034942|RCV002468615; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259 | 5 | 228414 | 228414 | | | 5:g.228414C>T | - | | |
NM_004168.4(SDHA):c.737G>A (p.Arg246His) | 6389 | SDHA | Uncertain significance | 745309710 | RCV001055444|RCV002379566|RCV003473657; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 228415 | 228415 | | | 5:g.228415G>A | - | | |
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu) | 6389 | SDHA | Uncertain significance | 745309710 | RCV002000580; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228415 | 228415 | | | 228415 | - | | |
NM_004168.4(SDHA):c.738C>T (p.Arg246=) | 6389 | SDHA | Likely benign | 2126559157 | RCV002092454|RCV002386947; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228416 | 228416 | | | 228416 | - | | |
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 571292356 | RCV000214276|RCV000230633|RCV000765826|RCV000663181; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 228417 | 228417 | | | 5:g.228417A>G | ClinGen:CA3172957 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.741A>G (p.Ile247Met) | 6389 | SDHA | Uncertain significance | 1735177782 | RCV001870866|RCV003164197; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228419 | 228419 | | | 228419 | - | | |
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV002722133; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228421 | 228421 | | | NC_000005.9:g.228421G>C | - | | |
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu) | 6389 | SDHA | Uncertain significance | 1735177925 | RCV001338000|RCV003294325; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228426 | 228426 | | | 228426 | - | | |
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg) | 6389 | SDHA | Uncertain significance | 1060503700 | RCV000463173|RCV002393167|RCV003324754; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 228427 | 228427 | | | NC_000005.9:g.228427A>G | ClinGen:CA16611833 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp) | 6389 | SDHA | Uncertain significance | -1 | RCV003035700; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228429 | 228429 | | | NC_000005.9:g.228429A>G | - | | |
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr) | 6389 | SDHA | Uncertain significance | 1318566276 | RCV000693374|RCV003163169; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228430 | 228430 | | | 5:g.228430A>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys) | 6389 | SDHA | Uncertain significance | 1126411 | RCV000559467|RCV001026538; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228431 | 228431 | | | 5:g.228431C>G | ClinGen:CA359011200 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.753C>T (p.Asn251=) | 6389 | SDHA | Likely benign | 1126411 | RCV001455157|RCV002396061; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228431 | 228431 | | | 228431 | - | | |
NM_004168.4(SDHA):c.757_758del (p.Val253fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1553998254 | RCV000576361|RCV001381444; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228434 | 228435 | | | 5:g.228434_228435del | ClinGen:CA658657422 | C3279992 614165 Paragangliomas 5; | |
NM_004168.4(SDHA):c.757G>A (p.Val253Ile) | 6389 | SDHA | Uncertain significance | 1126412 | RCV000470372; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228435 | 228435 | | | NC_000005.9:g.228435G>A | ClinGen:CA3172960 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.757G>C (p.Val253Leu) | 6389 | SDHA | Uncertain significance | -1 | RCV002644206; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228435 | 228435 | | | NC_000005.9:g.228435G>C | - | | |
NM_004168.4(SDHA):c.762_770+17del | 6389 | SDHA | Pathogenic/Likely pathogenic | 1041809852 | RCV000456955|RCV002393168|RCV002506134|RCV003316574|RCV003476122; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 228439 | 228464 | | | NC_000005.9:g.228440_228465del | ClinGen:CA16611876 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr) | 6389 | SDHA | Uncertain significance | 1735179887 | RCV001239987; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228441 | 228441 | | | 5:g.228441G>A | - | | |
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala) | 6389 | SDHA | Uncertain significance | 1409070000 | RCV000694488|RCV002388256; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 228444 | 228444 | | | 5:g.228444A>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser) | 6389 | SDHA | Uncertain significance | 1409070000 | RCV002047351; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228444 | 228444 | | | 228444 | - | | |
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile) | 6389 | SDHA | Uncertain significance | 2126559328 | RCV001976578; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228445 | 228445 | | | 228445 | - | | |
NM_004168.4(SDHA):c.768A>C (p.Thr256=) | 6389 | SDHA | Likely benign | 2126559341 | RCV001405323; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228446 | 228446 | | | 228446 | - | | |
NM_004168.4(SDHA):c.768A>T (p.Thr256=) | 6389 | SDHA | Likely benign | 2126559341 | RCV001484481; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228446 | 228446 | | | 228446 | - | | |
NM_004168.4(SDHA):c.769_770+77del | 6389 | SDHA | Likely pathogenic | -1 | RCV002966537; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228446 | 228524 | | | NC_000005.9:g.228447_228525del | - | | |
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu) | 6389 | SDHA | Uncertain significance | 749566947 | RCV001358988; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 228448 | 228448 | | | 228448 | - | | |
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 749566947 | RCV001885198|RCV001799815; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890 | 5 | 228448 | 228448 | | | 228448 | - | | |
NM_004168.4(SDHA):c.770+3A>G | 6389 | SDHA | Uncertain significance | -1 | RCV002876035; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228451 | 228451 | | | NC_000005.9:g.228451A>G | - | | |
NM_004168.4(SDHA):c.770+7A>C | 6389 | SDHA | Likely benign | 770997653 | RCV001455596; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228455 | 228455 | | | 5:g.228455A>C | - | | |
NM_004168.4(SDHA):c.770+7A>T | 6389 | SDHA | Likely benign | 770997653 | RCV002126413; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228455 | 228455 | | | 228455 | - | | |
NM_004168.4(SDHA):c.770+9C>G | 6389 | SDHA | Likely benign | 538621686 | RCV001506042; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228457 | 228457 | | | 228457 | - | | |
NM_004168.4(SDHA):c.770+10T>G | 6389 | SDHA | Likely benign | 1579391739 | RCV001506721; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 228458 | 228458 | | | 5:g.228458T>G | - | | |
NM_004168.4(SDHA):c.771-11A>G | 6389 | SDHA | Benign | 2288461 | RCV000245369|RCV000281527|RCV000330761|RCV000375985|RCV000492269|RCV001544159|RCV001594904|RCV001544160|RCV003316406; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016 | 5 | 230980 | 230980 | | | NC_000005.9:g.230980A>G | ClinGen:CA3172990 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.771-4C>G | 6389 | SDHA | Likely benign | 1360537551 | RCV001479132; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 230987 | 230987 | | | 230987 | - | | |
NM_004168.4(SDHA):c.771-4C>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1360537551 | RCV002113214|RCV002398234; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 230987 | 230987 | | | 230987 | - | | |
NM_004168.4(SDHA):c.771-1G>C | 6389 | SDHA | Likely pathogenic | 1735353141 | RCV001378546|RCV003473911; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 230990 | 230990 | | | 230990 | - | | |
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys) | 6389 | SDHA | Uncertain significance | -1 | RCV002802206; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 230992 | 230992 | | | NC_000005.9:g.230992G>T | - | | |
NM_004168.4(SDHA):c.774C>T (p.Gly258=) | 6389 | SDHA | Likely benign | 2126567779 | RCV001480757; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 230994 | 230994 | | | 230994 | - | | |
NM_004168.4(SDHA):c.774C>A (p.Gly258=) | 6389 | SDHA | Likely benign | 2126567779 | RCV002208173; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 230994 | 230994 | | | 230994 | - | | |
NM_004168.4(SDHA):c.775del (p.Tyr259fs) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553998606 | RCV000572546|RCV000778763|RCV000810235; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 230995 | 230995 | | | NC_000005.9:g.230995del | ClinGen:CA658657423 | | |
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys) | 6389 | SDHA | Uncertain significance | 1579397049 | RCV000809667|RCV002406818|RCV003320757; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 230996 | 230996 | | | 5:g.230996A>G | - | | |
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 140243793 | RCV000234552|RCV000567901|RCV001153420|RCV001153422|RCV001153421|RCV003430784; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MO | 5 | 230997 | 230997 | | | NC_000005.9:g.230997C>T | ClinGen:CA3172993 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) | 6389 | SDHA | Pathogenic/Likely pathogenic | 940845256 | RCV000460623|RCV001026811|RCV001775823|RCV003476124; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 230998 | 230998 | | | NC_000005.9:g.230998G>A | ClinGen:CA16611878 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) | 6389 | SDHA | Pathogenic/Likely pathogenic | 940845256 | RCV001377775|RCV001836652|RCV002413906; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 230998 | 230998 | | | 230998 | - | | |
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys) | 6389 | SDHA | Uncertain significance | 143484394 | RCV000649447|RCV002406450; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231001 | 231001 | | | NC_000005.9:g.231001C>T | ClinGen:CA3172995 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.782G>A (p.Arg261His) | 6389 | SDHA | Uncertain significance | 769228279 | RCV001365806|RCV002413873; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231002 | 231002 | | | 231002 | - | | |
NM_004168.4(SDHA):c.783C>T (p.Arg261=) | 6389 | SDHA | Likely benign | 1037927856 | RCV000930451; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231003 | 231003 | | | 5:g.231003C>T | - | | |
NM_004168.4(SDHA):c.786del (p.Tyr263fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1553998613 | RCV000627471|RCV001855336|RCV002413782|RCV003316778; | N | MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 231005 | 231005 | | | NC_000005.9:g.231006del | ClinGen:CA658796487 | | |
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile) | 6389 | SDHA | Uncertain significance | 1579397115 | RCV000815298|RCV001026883|RCV003472426; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 231005 | 231005 | | | 5:g.231005C>T | - | | |
NM_004168.4(SDHA):c.786C>T (p.Thr262=) | 6389 | SDHA | Likely benign | 1560992315 | RCV002155622|RCV002409534; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231006 | 231006 | | | 231006 | - | | |
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys) | 6389 | SDHA | Uncertain significance | 2126567907 | RCV001930654; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231008 | 231008 | | | 231008 | - | | |
NM_004168.4(SDHA):c.789C>T (p.Tyr263=) | 6389 | SDHA | Likely benign | 1553998616 | RCV000649468|RCV002422382; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231009 | 231009 | | | NC_000005.9:g.231009C>T | ClinGen:CA442691470 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys) | 6389 | SDHA | Uncertain significance | 2126567940 | RCV001368599; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231011 | 231011 | | | 231011 | - | | |
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu) | 6389 | SDHA | Uncertain significance | 1237513803 | RCV000535514|RCV002420505|RCV001821587; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 231012 | 231012 | | | 5:g.231012C>G | ClinGen:CA359011581 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.792C>T (p.Phe264=) | 6389 | SDHA | Likely benign | 1237513803 | RCV001479819; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231012 | 231012 | | | 231012 | - | | |
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys) | 6389 | SDHA | Uncertain significance | 2126567967 | RCV002027846; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231013 | 231013 | | | 231013 | - | | |
NM_004168.4(SDHA):c.795C>T (p.Ser265=) | 6389 | SDHA | Likely benign | 1579397171 | RCV000877990|RCV002416088; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231015 | 231015 | | | 5:g.231015C>T | - | | |
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg) | 6389 | SDHA | Uncertain significance | 1579397179 | RCV000799284; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231016 | 231016 | | | 5:g.231016T>C | - | | |
NM_004168.4(SDHA):c.800C>T (p.Thr267Met) | 6389 | SDHA | Uncertain significance | 777167108 | RCV000477464|RCV001027056; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231020 | 231020 | | | NC_000005.9:g.231020C>T | ClinGen:CA3172997 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.801G>A (p.Thr267=) | 6389 | SDHA | Likely benign | 543630901 | RCV000457309|RCV001027072|RCV001696814; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 231021 | 231021 | | | NC_000005.9:g.231021G>A | ClinGen:CA3172998 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr) | 6389 | SDHA | Uncertain significance | 1579397217 | RCV000798224; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231025 | 231025 | | | 5:g.231025G>A | - | | |
NM_004168.4(SDHA):c.807C>A (p.Ala269=) | 6389 | SDHA | Likely benign | -1 | RCV002419387|RCV003120969; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231027 | 231027 | | | | - | | |
NM_004168.4(SDHA):c.809A>T (p.His270Leu) | 6389 | SDHA | Uncertain significance | 1381228775 | RCV001041664|RCV003160275|RCV002479266; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO | 5 | 231029 | 231029 | | | 5:g.231029A>T | - | | |
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg) | 6389 | SDHA | Uncertain significance | 2126568112 | RCV001363743; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231029 | 231034 | | | 231028 | - | | |
NM_004168.4(SDHA):c.810C>T (p.His270=) | 6389 | SDHA | Likely benign | 1199457341 | RCV001027185|RCV001428715; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231030 | 231030 | | | 5:g.231030C>T | - | | |
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) | 6389 | SDHA | Uncertain significance | 765611464 | RCV000463083|RCV000765827|RCV001775822|RCV002418426; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MOND | 5 | 231032 | 231032 | | | NC_000005.9:g.231032C>G | ClinGen:CA3172999 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile) | 6389 | SDHA | Uncertain significance | 765611464 | RCV000816383|RCV002415913; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231032 | 231032 | | | 5:g.231032C>T | - | | |
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala) | 6389 | SDHA | Uncertain significance | 1735357615 | RCV001230323; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231037 | 231037 | | | 5:g.231037A>G | - | | |
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 587781720 | RCV000129906|RCV000409578|RCV000649428|RCV001818307; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 231038 | 231038 | | | 5:g.231038C>T | ClinGen:CA165326 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.819T>G (p.Thr273=) | 6389 | SDHA | Likely benign | -1 | RCV002721920; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231039 | 231039 | | | | - | | |
NM_004168.4(SDHA):c.822C>T (p.Gly274=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 34771391 | RCV000210510|RCV000287211|RCV000317795|RCV000372488|RCV000426962|RCV000570502|RCV003316165; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO | 5 | 231042 | 231042 | | | NC_000005.9:g.231042C>T | ClinGen:CA358575 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.822C>A (p.Gly274=) | 6389 | SDHA | Likely benign | 34771391 | RCV000551101; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231042 | 231042 | | | 5:g.231042C>A | ClinGen:CA442691490 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn) | 6389 | SDHA | Uncertain significance | 1553998629 | RCV000527085|RCV002413611; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231043 | 231043 | | | 5:g.231043G>A | ClinGen:CA359011699 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.825C>T (p.Asp275=) | 6389 | SDHA | Benign/Likely benign | 1237373391 | RCV000539832|RCV002255457; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231045 | 231045 | | | NC_000005.9:g.231045C>T | ClinGen:CA442691492 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) | 6389 | SDHA | Uncertain significance | 751008647 | RCV000472703|RCV000663336|RCV002429556; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231046 | 231046 | | | NC_000005.9:g.231046G>A | ClinGen:CA3173001 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.828C>T (p.Gly276=) | 6389 | SDHA | Uncertain significance | 754910183 | RCV000547755; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231048 | 231048 | | | NC_000005.9:g.231048C>T | ClinGen:CA442691494 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.828C>A (p.Gly276=) | 6389 | SDHA | Likely benign | 754910183 | RCV001468959; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231048 | 231048 | | | 231048 | - | | |
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala) | 6389 | SDHA | Uncertain significance | 1553998638 | RCV000566367|RCV001859970; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231049 | 231049 | | | 5:g.231049A>G | ClinGen:CA359011741 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 367721665 | RCV000208222|RCV000228322|RCV000342145|RCV000283732|RCV000396726|RCV000411374|RCV000570331|RCV002510820|RCV003474989; | N | Human Phenotype Ontology:HP:0003756,MONDO:MONDO:0020120,MedGen:C1533847, Orphanet:98472|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orpha | 5 | 231050 | 231050 | | | 5:g.231050C>T | ClinGen:CA069792 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys) | 6389 | SDHA | Uncertain significance | 367721665 | RCV000649456|RCV002424510|RCV003472048; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 231050 | 231050 | | | NC_000005.9:g.231050C>A | ClinGen:CA3173003 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.831G>A (p.Thr277=) | 6389 | SDHA | Likely benign | 1470632146 | RCV000528017|RCV002431684; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231051 | 231051 | | | NC_000005.9:g.231051G>A | ClinGen:CA442691497 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr) | 6389 | SDHA | Uncertain significance | 1178613645 | RCV001236446|RCV002436923; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231052 | 231052 | | | 5:g.231052G>A | - | | |
NM_004168.4(SDHA):c.834C>T (p.Ala278=) | 6389 | SDHA | Likely benign | 1553998649 | RCV000540465|RCV000573575; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231054 | 231054 | | | 5:g.231054C>T | ClinGen:CA442691500 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.835A>G (p.Met279Val) | 6389 | SDHA | Uncertain significance | 755913710 | RCV000468486|RCV002436467; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231055 | 231055 | | | NC_000005.9:g.231055A>G | ClinGen:CA3173004 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.835A>T (p.Met279Leu) | 6389 | SDHA | Uncertain significance | 755913710 | RCV001201690|RCV003293991; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231055 | 231055 | | | 5:g.231055A>T | - | | |
NM_004168.4(SDHA):c.836T>C (p.Met279Thr) | 6389 | SDHA | Uncertain significance | 777595710 | RCV001039066|RCV002434447; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231056 | 231056 | | | 5:g.231056T>C | - | | |
NM_004168.4(SDHA):c.837G>T (p.Met279Ile) | 6389 | SDHA | Uncertain significance | 746145822 | RCV000703041|RCV002440522|RCV003238191; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 231057 | 231057 | | | NC_000005.9:g.231057G>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.837G>C (p.Met279Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002614584; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231057 | 231057 | | | NC_000005.9:g.231057G>C | - | | |
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn) | 6389 | SDHA | Uncertain significance | 2126568391 | RCV001974588|RCV002441074; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231059 | 231059 | | | 231059 | - | | |
NM_004168.4(SDHA):c.840C>G (p.Ile280Met) | 6389 | SDHA | Uncertain significance | 2126568400 | RCV001899746; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231060 | 231060 | | | 231060 | - | | |
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) | 6389 | SDHA | Uncertain significance | 772325115 | RCV000662906|RCV000818760|RCV002442385|RCV002493076|RCV003420161|RCV003472060; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 231061 | 231061 | | | NC_000005.9:g.231061A>G | - | C3279992 614165 Paragangliomas 5; | |
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV003080221; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231062 | 231062 | | | NC_000005.9:g.231062C>G | - | | |
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly) | 6389 | SDHA | Uncertain significance | 1553998658 | RCV000553235; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231064 | 231064 | | | 5:g.231064A>G | ClinGen:CA359011802 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr) | 6389 | SDHA | Uncertain significance | 1735361111 | RCV001300894|RCV003373108; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231065 | 231065 | | | 231065 | - | | |
NM_004168.4(SDHA):c.846G>A (p.Arg282=) | 6389 | SDHA | Likely benign | 1579397464 | RCV000981454|RCV002445136; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231066 | 231066 | | | 5:g.231066G>A | - | | |
NM_004168.4(SDHA):c.848C>T (p.Ala283Val) | 6389 | SDHA | Uncertain significance | -1 | RCV002815762; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231068 | 231068 | | | NC_000005.9:g.231068C>T | - | | |
NM_004168.4(SDHA):c.852C>G (p.Gly284=) | 6389 | SDHA | Likely benign | 552108762 | RCV000529223|RCV003343916; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231072 | 231072 | | | 5:g.231072C>G | ClinGen:CA3173008 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.852C>A (p.Gly284=) | 6389 | SDHA | Likely benign | 552108762 | RCV000872455|RCV002444941; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231072 | 231072 | | | 5:g.231072C>A | - | | |
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe) | 6389 | SDHA | Uncertain significance | 747045191 | RCV000649446|RCV001017973; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231073 | 231073 | | | 5:g.231073C>T | ClinGen:CA3173009 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser) | 6389 | SDHA | Uncertain significance | 1579397496 | RCV001018011|RCV000801027; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231076 | 231076 | | | 5:g.231076C>T | - | | |
NM_004168.4(SDHA):c.858T>A (p.Pro286=) | 6389 | SDHA | Likely benign | 1553998661 | RCV000574929|RCV000871585; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231078 | 231078 | | | 5:g.231078T>A | ClinGen:CA442691515 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser) | 6389 | SDHA | Uncertain significance | 2126568567 | RCV001908455; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231079 | 231079 | | | 231079 | - | | |
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp) | 6389 | SDHA | Uncertain significance | 140797184 | RCV000705741|RCV002369962; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231081 | 231081 | | | 5:g.231081C>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.861C>T (p.Cys287=) | 6389 | SDHA | Likely benign | -1 | RCV003052924|RCV003340602; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231081 | 231081 | | | | - | | |
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr) | 6389 | SDHA | Uncertain significance | 2126568625 | RCV001902838; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231085 | 231085 | | | 231085 | - | | |
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV002685566; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231085 | 231085 | | | NC_000005.9:g.231085G>A | - | | |
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu) | 6389 | SDHA | Uncertain significance | -1 | RCV002449681|RCV003100000; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231087 | 231087 | | | 231087 | - | | |
NM_004168.4(SDHA):c.867C>T (p.Asp289=) | 6389 | SDHA | Likely benign | -1 | RCV002686012; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231087 | 231087 | | | | - | | |
NM_004168.4(SDHA):c.868C>T (p.Leu290=) | 6389 | SDHA | Likely benign | 2126568639 | RCV001430654; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231088 | 231088 | | | 231088 | - | | |
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro) | 6389 | SDHA | Uncertain significance | 1333787672 | RCV001051573|RCV002374907|RCV003473645; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 231089 | 231089 | | | 5:g.231089T>C | - | | |
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys) | 6389 | SDHA | Uncertain significance | 1579397516 | RCV000810928|RCV002370178; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231091 | 231091 | | | 5:g.231091G>A | - | | |
NM_004168.4(SDHA):c.872A>T (p.Glu291Val) | 6389 | SDHA | Uncertain significance | 1336029027 | RCV000795093|RCV002370081; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231092 | 231092 | | | 5:g.231092A>T | - | | |
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002373489|RCV003100010; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231092 | 231092 | | | 231092 | - | | |
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly) | 6389 | SDHA | Uncertain significance | -1 | RCV002658108; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231092 | 231092 | | | NC_000005.9:g.231092A>G | - | | |
NM_004168.4(SDHA):c.873G>A (p.Glu291=) | 6389 | SDHA | Likely benign | 570393010 | RCV000463231|RCV001018260; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231093 | 231093 | | | NC_000005.9:g.231093G>A | ClinGen:CA3173011 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys) | 6389 | SDHA | Uncertain significance | 2126568674 | RCV002029830; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231095 | 231095 | | | 231095 | - | | |
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) | 6389 | SDHA | Pathogenic | 1560992565 | RCV000706931|RCV002442539|RCV003316801; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231100 | 231100 | | | NC_000005.9:g.231100C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV003006201; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231100 | 231100 | | | NC_000005.9:g.231100C>A | - | | |
NM_004168.4(SDHA):c.882G>T (p.Gln294His) | 6389 | SDHA | Uncertain significance | 371512265 | RCV001935495; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231102 | 231102 | | | 231102 | - | | |
NM_004168.4(SDHA):c.882G>A (p.Gln294=) | 6389 | SDHA | Likely benign | -1 | RCV002373772|RCV003100037; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231102 | 231102 | | | | - | | |
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr) | 6389 | SDHA | Uncertain significance | 1735363396 | RCV001344327; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231104 | 231104 | | | 231104 | - | | |
NM_004168.4(SDHA):c.886C>T (p.His296Tyr) | 6389 | SDHA | Uncertain significance | 1579397566 | RCV001018428|RCV001049537; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231106 | 231106 | | | 5:g.231106C>T | - | | |
NM_004168.4(SDHA):c.888C>T (p.His296=) | 6389 | SDHA | Likely benign | 1553998666 | RCV001475500; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231108 | 231108 | | | NC_000005.9:g.231108C>T | ClinGen:CA442691530 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser) | 6389 | SDHA | Uncertain significance | 1224049075 | RCV001054039; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231109 | 231109 | | | 5:g.231109C>T | - | | |
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu) | 6389 | SDHA | Uncertain significance | 1579397592 | RCV001018484|RCV001240518; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231110 | 231111 | | | NC_000005.9:g.231110_231111delinsTC | - | | |
NM_004168.4(SDHA):c.891T>C (p.Pro297=) | 6389 | SDHA | Benign | 1126417 | RCV000118321|RCV000162482|RCV000308030|RCV000347829|RCV000400279|RCV001509670|RCV001544164|RCV001544165|RCV001711387|RCV003315685; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50 | 5 | 231111 | 231111 | | | 5:g.231111T>C | ClinGen:CA155160 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.891T>G (p.Pro297=) | 6389 | SDHA | Likely benign | 1126417 | RCV001421869|RCV003298712; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231111 | 231111 | | | 231111 | - | | |
NM_004168.4(SDHA):c.894A>G (p.Thr298=) | 6389 | SDHA | Likely benign | 774584410 | RCV000531297|RCV002377146; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 231114 | 231114 | | | NC_000005.9:g.231114A>G | ClinGen:CA3173013 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.895+1del | 6389 | SDHA | Likely pathogenic | 2126568833 | RCV001995700|RCV003453916; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231115 | 231115 | | | 231114 | - | | |
NM_004168.4(SDHA):c.895+4G>A | 6389 | SDHA | Uncertain significance | 1735364791 | RCV001343753; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231119 | 231119 | | | 231119 | - | | |
NM_004168.4(SDHA):c.895+6G>A | 6389 | SDHA | Likely benign | 765946047 | RCV001061641; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231121 | 231121 | | | 5:g.231121G>A | - | | |
NM_004168.4(SDHA):c.895+8A>G | 6389 | SDHA | Likely benign | 892273080 | RCV000869860; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 231123 | 231123 | | | 5:g.231123A>G | - | | |
NM_004168.4(SDHA):c.895+9G>A | 6389 | SDHA | Likely benign | 1579397653 | RCV001441334; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 231124 | 231124 | | | 5:g.231124G>A | - | | |
NM_004168.4(SDHA):c.895+13G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 201461936 | RCV000440704|RCV000662985|RCV001157730|RCV001157731|RCV001157732|RCV002256236; | N | MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208| | 5 | 231128 | 231128 | | | 5:g.231128G>A | ClinGen:CA3173017 | CN169374 not specified; | |
NM_004168.4(SDHA):c.896-11G>T | 6389 | SDHA | Uncertain significance | 774043076 | RCV001157734|RCV001157733|RCV001157735|RCV002256692; | N | MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233581 | 233581 | | | 5:g.233581G>T | - | | |
NM_004168.4(SDHA):c.896-10T>G | 6389 | SDHA | Uncertain significance | 2126576716 | RCV001877059; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233582 | 233582 | | | 233582 | - | | |
NM_004168.4(SDHA):c.896-5del | 6389 | SDHA | Benign | 751123858 | RCV002132498; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233582 | 233582 | | | 233581 | - | | |
NM_004168.4(SDHA):c.896-5T>G | 6389 | SDHA | Uncertain significance | 2126576742 | RCV001915553; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233587 | 233587 | | | 233587 | - | | |
NM_004168.4(SDHA):c.896-4G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 555881974 | RCV000543768|RCV003316720|RCV002448768; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233588 | 233588 | | | NC_000005.9:g.233588G>A | ClinGen:CA3173037 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.896-3C>T | 6389 | SDHA | Uncertain significance | 1735543080 | RCV001341902; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233589 | 233589 | | | 233589 | - | | |
NM_004168.4(SDHA):c.896-2del | 6389 | SDHA | Likely pathogenic | -1 | RCV003046279; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233590 | 233590 | | | NC_000005.9:g.233590del | - | | |
NM_004168.4(SDHA):c.897C>T (p.Gly299=) | 6389 | SDHA | Likely benign | 1484385016 | RCV000797742|RCV002370095; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233593 | 233593 | | | 5:g.233593C>T | - | | |
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu) | 6389 | SDHA | Uncertain significance | 1448561231 | RCV000812836; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233594 | 233594 | | | 5:g.233594A>C | - | | |
NM_004168.4(SDHA):c.898A>G (p.Ile300Val) | 6389 | SDHA | Uncertain significance | -1 | RCV002376276|RCV003100074; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233594 | 233594 | | | 233594 | - | | |
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr) | 6389 | SDHA | Uncertain significance | 878854637 | RCV000232508|RCV001018599; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233595 | 233595 | | | 5:g.233595T>C | ClinGen:CA10582423 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.900A>G (p.Ile300Met) | 6389 | SDHA | Uncertain significance | 1735543603 | RCV001314057; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233596 | 233596 | | | 233596 | - | | |
NM_004168.4(SDHA):c.901T>C (p.Tyr301His) | 6389 | SDHA | Uncertain significance | 1060503713 | RCV000477068|RCV002374817; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233597 | 233597 | | | NC_000005.9:g.233597T>C | ClinGen:CA16611939 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) | 6389 | SDHA | Uncertain significance | 182055219 | RCV001018684|RCV000765828|RCV000701878; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MO | 5 | 233598 | 233598 | | | NC_000005.9:g.233598A>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp) | 6389 | SDHA | Uncertain significance | 1735544082 | RCV001323316|RCV001586126|RCV002377407; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233601 | 233601 | | | 233601 | - | | |
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser) | 6389 | SDHA | Uncertain significance | 2126576840 | RCV001993004|RCV002370603; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233603 | 233603 | | | 233603 | - | | |
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe) | 6389 | SDHA | Uncertain significance | 878854638 | RCV000234148; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233610 | 233610 | | | 5:g.233610G>T | ClinGen:CA10582424 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) | 6389 | SDHA | Uncertain significance | 878854638 | RCV000468097|RCV000575963|RCV000662791|RCV003313078; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 233610 | 233610 | | | NC_000005.9:g.233610G>A | ClinGen:CA16611838 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.916C>G (p.Leu306Val) | 6389 | SDHA | Uncertain significance | 1735544893 | RCV001227668; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233612 | 233612 | | | 5:g.233612C>G | - | | |
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro) | 6389 | SDHA | Uncertain significance | 1477142607 | RCV001981723; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233613 | 233613 | | | 233613 | - | | |
NM_004168.4(SDHA):c.918C>G (p.Leu306=) | 6389 | SDHA | Benign/Likely benign | 138828792 | RCV000239363|RCV000568221|RCV002479953; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 233614 | 233614 | | | NC_000005.9:g.233614C>G | ClinGen:CA3173039 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.918C>T (p.Leu306=) | 6389 | SDHA | Likely benign | 138828792 | RCV000877742|RCV001018968; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233614 | 233614 | | | 5:g.233614C>T | - | | |
NM_004168.4(SDHA):c.918C>A (p.Leu306=) | 6389 | SDHA | Likely benign | 138828792 | RCV001452109; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233614 | 233614 | | | 5:g.233614C>A | - | | |
NM_004168.4(SDHA):c.919A>G (p.Ile307Val) | 6389 | SDHA | Uncertain significance | 200632016 | RCV000229059|RCV001018991|RCV002503908; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO | 5 | 233615 | 233615 | | | 5:g.233615A>G | ClinGen:CA10582425 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.921T>C (p.Ile307=) | 6389 | SDHA | Likely benign | -1 | RCV002867652; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233617 | 233617 | | | | - | | |
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1457666982 | RCV000560478|RCV000563497|RCV001799682|RCV003237920; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D0 | 5 | 233619 | 233619 | | | 5:g.233619C>T | ClinGen:CA359012572 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV003069140; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233619 | 233619 | | | NC_000005.9:g.233619C>A | - | | |
NM_004168.4(SDHA):c.924G>A (p.Thr308=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1355760590 | RCV000531991|RCV002377147; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233620 | 233620 | | | NC_000005.9:g.233620G>A | ClinGen:CA442691660 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly) | 6389 | SDHA | Uncertain significance | 1735547863 | RCV001227669|RCV003473791; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 233622 | 233622 | | | 5:g.233622A>G | - | | |
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002663467; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233624 | 233624 | | | NC_000005.9:g.233624G>A | - | | |
NM_004168.4(SDHA):c.930A>C (p.Gly310=) | 6389 | SDHA | Likely benign | 1579402124 | RCV001504224; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233626 | 233626 | | | 5:g.233626A>C | - | | |
NM_004168.4(SDHA):c.934_936del (p.Arg312del) | 6389 | SDHA | Uncertain significance | 1735548711 | RCV001999182; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233628 | 233630 | | | 233627 | - | | |
NM_004168.4(SDHA):c.933T>C (p.Cys311=) | 6389 | SDHA | Likely benign | 764026731 | RCV001019190|RCV002549500; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233629 | 233629 | | | 5:g.233629T>C | - | | |
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys) | 6389 | SDHA | Uncertain significance | 1735549033 | RCV001768271|RCV001885098|RCV002370309; | N | MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233630 | 233630 | | | 233630 | - | | |
NM_004168.4(SDHA):c.935G>A (p.Arg312His) | 6389 | SDHA | Uncertain significance | 876660932 | RCV000692412|RCV001019215|RCV003472207; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 233631 | 233631 | | | 5:g.233631G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu) | 6389 | SDHA | Uncertain significance | 876660932 | RCV001295581|RCV003166644; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233631 | 233631 | | | 233631 | - | | |
NM_004168.4(SDHA):c.936T>G (p.Arg312=) | 6389 | SDHA | Likely benign | 2126577072 | RCV002207096; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233632 | 233632 | | | 233632 | - | | |
NM_004168.4(SDHA):c.939A>C (p.Gly313=) | 6389 | SDHA | Likely benign | 1579402154 | RCV001405606; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233635 | 233635 | | | 5:g.233635A>C | - | | |
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1337704280 | RCV000649440|RCV002369738; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233636 | 233636 | | | NC_000005.9:g.233636G>A | ClinGen:CA359012620 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly) | 6389 | SDHA | Uncertain significance | 1735550179 | RCV001299900|RCV003473851; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 233637 | 233637 | | | 233637 | - | | |
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala) | 6389 | SDHA | Uncertain significance | 1735550179 | RCV001959898|RCV002370556; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233637 | 233637 | | | 233637 | - | | |
NM_004168.4(SDHA):c.942G>A (p.Glu314=) | 6389 | SDHA | Likely benign | 1553998977 | RCV000544759|RCV002377148; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233638 | 233638 | | | NC_000005.9:g.233638G>A | ClinGen:CA442691673 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs) | 6389 | SDHA | Pathogenic | 1579402188 | RCV000813707; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233638 | 233641 | | | 5:g.233639_233641del | - | | |
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu) | 6389 | SDHA | Uncertain significance | 1579402194 | RCV000816441; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233640 | 233640 | | | 5:g.233640G>A | - | | |
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr) | 6389 | SDHA | Uncertain significance | 903136919 | RCV002005616; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233646 | 233646 | | | 233646 | - | | |
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe) | 6389 | SDHA | Uncertain significance | 1735551482 | RCV001212408; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233648 | 233648 | | | 5:g.233648C>T | - | | |
NM_004168.4(SDHA):c.954C>T (p.Leu318=) | 6389 | SDHA | Likely benign | 1412623947 | RCV000566045|RCV000869875|RCV002497217; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:010 | 5 | 233650 | 233650 | | | 5:g.233650C>T | ClinGen:CA442691684 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 377509915 | RCV000462816|RCV000565889|RCV000765829|RCV001821296|RCV002272249|RCV003476127; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO | 5 | 233651 | 233651 | | | NC_000005.9:g.233651A>C | ClinGen:CA3173042 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.955A>G (p.Ile319Val) | 6389 | SDHA | Uncertain significance | 377509915 | RCV000662946|RCV000557149|RCV001019482; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233651 | 233651 | | | NC_000005.9:g.233651A>G | ClinGen:CA359012672 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.957T>C (p.Ile319=) | 6389 | SDHA | Likely benign | 757167466 | RCV000536309|RCV001019510; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233653 | 233653 | | | 5:g.233653T>C | ClinGen:CA3173043 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser) | 6389 | SDHA | Uncertain significance | 765092091 | RCV001019521|RCV001247226; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233655 | 233655 | | | 5:g.233655A>G | - | | |
NM_004168.4(SDHA):c.960C>T (p.Asn320=) | 6389 | SDHA | Likely benign | 1289327970 | RCV001434569|RCV002372589; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233656 | 233656 | | | 5:g.233656C>T | - | | |
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile) | 6389 | SDHA | Uncertain significance | 751896104 | RCV001052866|RCV002374916; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233658 | 233658 | | | 5:g.233658G>T | - | | |
NM_004168.4(SDHA):c.963T>C (p.Ser321=) | 6389 | SDHA | Likely benign | 755235011 | RCV002089432|RCV003434384; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 233659 | 233659 | | | 233659 | - | | |
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro) | 6389 | SDHA | Uncertain significance | 1553998989 | RCV000649453; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233661 | 233661 | | | NC_000005.9:g.233661A>C | ClinGen:CA359012705 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser) | 6389 | SDHA | Uncertain significance | 1553998991 | RCV000649460; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233663 | 233663 | | | NC_000005.9:g.233663G>A | ClinGen:CA359012713 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.969C>T (p.Gly323=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 142849100 | RCV000129664|RCV000203785|RCV000246464|RCV000314076|RCV000399972|RCV000362684|RCV001357190|RCV003315880; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011 | 5 | 233665 | 233665 | | | 5:g.233665C>T | ClinGen:CA345710 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.969C>A (p.Gly323=) | 6389 | SDHA | Likely benign | 142849100 | RCV000548814|RCV002377149; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233665 | 233665 | | | 5:g.233665C>A | ClinGen:CA3173047 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.969C>G (p.Gly323=) | 6389 | SDHA | Likely benign | -1 | RCV002376607|RCV003094856; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233665 | 233665 | | | | - | | |
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) | 6389 | SDHA | Uncertain significance | 147014102 | RCV000649457|RCV000662695|RCV002369740|RCV002493038|RCV003472049; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 233666 | 233666 | | | 5:g.233666G>A | ClinGen:CA3173048 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp) | 6389 | SDHA | Uncertain significance | 1735554095 | RCV001991877; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233669 | 233669 | | | 233669 | - | | |
NM_004168.4(SDHA):c.974G>T (p.Arg325Met) | 6389 | SDHA | Uncertain significance | 1735554223 | RCV002006610|RCV002386896; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233670 | 233670 | | | 233670 | - | | |
NM_004168.4(SDHA):c.975G>A (p.Arg325=) | 6389 | SDHA | Likely benign | 1418778005 | RCV001482943|RCV002384787; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233671 | 233671 | | | 233671 | - | | |
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr) | 6389 | SDHA | Uncertain significance | 1735554652 | RCV001223393; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233673 | 233673 | | | 5:g.233673T>A | - | | |
NM_004168.4(SDHA):c.979A>G (p.Met327Val) | 6389 | SDHA | Uncertain significance | 1285443776 | RCV002031597|RCV002372823; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233675 | 233675 | | | 233675 | - | | |
NM_004168.4(SDHA):c.980T>C (p.Met327Thr) | 6389 | SDHA | Uncertain significance | 2126577482 | RCV001884283; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233676 | 233676 | | | 233676 | - | | |
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln) | 6389 | SDHA | Uncertain significance | 778297896 | RCV001956772; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233678 | 233678 | | | 233678 | - | | |
NM_004168.4(SDHA):c.984G>A (p.Glu328=) | 6389 | SDHA | Likely benign | 1735555420 | RCV002382287|RCV002175371; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233680 | 233680 | | | 233680 | - | | |
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) | 6389 | SDHA | Pathogenic | 771328239 | RCV000462116|RCV001019810; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233681 | 233681 | | | NC_000005.9:g.233681C>T | ClinGen:CA16611943 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly) | 6389 | SDHA | Uncertain significance | 771328239 | RCV000556956|RCV002384224; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233681 | 233681 | | | 5:g.233681C>G | ClinGen:CA3173054 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln) | 6389 | SDHA | Uncertain significance | 138265892 | RCV000690290|RCV001019831|RCV001771947; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 233682 | 233682 | | | NC_000005.9:g.233682G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV002899145; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233684 | 233684 | | | NC_000005.9:g.233684T>A | - | | |
NM_004168.4(SDHA):c.990C>T (p.Tyr330=) | 6389 | SDHA | Likely benign | 370547766 | RCV000537496|RCV002384225; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233686 | 233686 | | | NC_000005.9:g.233686C>T | ClinGen:CA3173057 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 200526913 | RCV000239369|RCV000567963|RCV000765830|RCV002291613; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO | 5 | 233687 | 233687 | | | NC_000005.9:g.233687G>A | ClinGen:CA3173058 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser) | 6389 | SDHA | Uncertain significance | 200526913 | RCV001936106; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233687 | 233687 | | | 233687 | - | | |
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV002843230; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233687 | 233688 | | | NC_000005.9:g.233687_233688delinsAA | - | | |
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly) | 6389 | SDHA | Uncertain significance | 1206201147 | RCV000799683; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233688 | 233688 | | | 5:g.233688C>G | - | | |
NM_004168.4(SDHA):c.992C>T (p.Ala331Val) | 6389 | SDHA | Uncertain significance | 1206201147 | RCV001322315|RCV002546094|RCV003355389; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233688 | 233688 | | | 233688 | - | | |
NM_004168.4(SDHA):c.993C>T (p.Ala331=) | 6389 | SDHA | Likely benign | 1424925197 | RCV001500175|RCV002382153; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233689 | 233689 | | | 5:g.233689C>T | - | | |
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) | 6389 | SDHA | Uncertain significance | 373509391 | RCV000194437|RCV000229794|RCV000563954|RCV001558313|RCV003474947; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C315 | 5 | 233690 | 233690 | | | 5:g.233690C>G | ClinGen:CA208608 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.995_996del (p.Pro332fs) | 6389 | SDHA | Pathogenic | 1560994766 | RCV000697696|RCV002386222|RCV003148832|RCV003313134; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 233691 | 233692 | | | 5:g.233691_233692del | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) | 6389 | SDHA | Uncertain significance | 1057517540 | RCV000410220|RCV000649427|RCV002379266; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233692 | 233694 | | | NC_000005.9:g.233692_233694delinsCAC | ClinGen:CA16042100 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV000473544|RCV002383837; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233692 | 233693 | | | NC_000005.9:g.233692_233693inv | ClinGen:CA16611881 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.997G>C (p.Val333Leu) | 6389 | SDHA | Uncertain significance | 1062468 | RCV000469550|RCV002383836|RCV002489089; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 233693 | 233693 | | | NC_000005.9:g.233693G>C | ClinGen:CA16611946 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.997G>A (p.Val333Ile) | 6389 | SDHA | Uncertain significance | 1062468 | RCV001301605|RCV002384359; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233693 | 233693 | | | 233693 | - | | |
NM_004168.4(SDHA):c.999C>G (p.Val333=) | 6389 | SDHA | Likely benign | 149556555 | RCV000525741|RCV001019964; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233695 | 233695 | | | NC_000005.9:g.233695C>G | ClinGen:CA3173061 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.999C>T (p.Val333=) | 6389 | SDHA | Likely benign | 149556555 | RCV000867551|RCV001019965; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233695 | 233695 | | | 5:g.233695C>T | - | | |
NM_004168.4(SDHA):c.999C>A (p.Val333=) | 6389 | SDHA | Likely benign | -1 | RCV002383062|RCV003103626; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233695 | 233695 | | | | - | | |
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr) | 6389 | SDHA | Uncertain significance | 1401459296 | RCV000533503|RCV002350351; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233696 | 233696 | | | 5:g.233696G>A | ClinGen:CA359012819 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002303643|RCV002363753; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233696 | 233696 | | | 233696 | - | | |
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) | 6389 | SDHA | Uncertain significance | 765180271 | RCV000546125|RCV001009632|RCV002483478|RCV002272285; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 233697 | 233697 | | | NC_000005.9:g.233697C>T | ClinGen:CA3173062 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 144252500 | RCV000239366|RCV000570639|RCV001152241|RCV001152242|RCV001152243|RCV001705321|RCV001820792|RCV003316318; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MO | 5 | 233698 | 233698 | | | NC_000005.9:g.233698G>A | ClinGen:CA3173063 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr) | 6389 | SDHA | Uncertain significance | 1560994846 | RCV000696711; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233700 | 233700 | | | NC_000005.9:g.233700A>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1005G>A (p.Lys335=) | 6389 | SDHA | Likely benign | 1735559685 | RCV001237573; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233701 | 233701 | | | 5:g.233701G>A | - | | |
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn) | 6389 | SDHA | Uncertain significance | 1735559685 | RCV002010167; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233701 | 233701 | | | 233701 | - | | |
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) | 6389 | SDHA | Uncertain significance | 1553999038 | RCV000662766|RCV000707079|RCV001016968; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233702 | 233702 | | | 5:g.233702G>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala) | 6389 | SDHA | Uncertain significance | 1579402533 | RCV000799695; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233703 | 233703 | | | 5:g.233703A>C | - | | |
NM_004168.4(SDHA):c.1009C>T (p.Leu337=) | 6389 | SDHA | Likely benign | -1 | RCV002610974; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233705 | 233705 | | | | - | | |
NM_004168.4(SDHA):c.1012del (p.Ala338fs) | 6389 | SDHA | Pathogenic | 1295239305 | RCV001383279|RCV002357289|RCV002508961; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 233707 | 233707 | | | 233706 | - | | |
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr) | 6389 | SDHA | Uncertain significance | 2126577878 | RCV001963665|RCV002224126; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900 | 5 | 233708 | 233708 | | | 233708 | - | | |
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val) | 6389 | SDHA | Uncertain significance | 1560994866 | RCV000706884|RCV003165926; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233709 | 233709 | | | 5:g.233709C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 201341132 | RCV000456689|RCV000563364|RCV001152245|RCV001152244|RCV001152246|RCV001310840; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M | 5 | 233710 | 233710 | | | NC_000005.9:g.233710G>A | ClinGen:CA3173065 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1014G>T (p.Ala338=) | 6389 | SDHA | Likely benign | 201341132 | RCV001499559|RCV003161005; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233710 | 233710 | | | 233710 | - | | |
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe) | 6389 | SDHA | Uncertain significance | 1553999043 | RCV000649398; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233712 | 233712 | | | 5:g.233712C>T | ClinGen:CA359012877 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys) | 6389 | SDHA | Uncertain significance | 1553999043 | RCV001326356|RCV002350606; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233712 | 233712 | | | 233712 | - | | |
NM_004168.4(SDHA):c.1017T>C (p.Ser339=) | 6389 | SDHA | Likely benign | 752738784 | RCV000568481|RCV001401268; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233713 | 233713 | | | 5:g.233713T>C | ClinGen:CA442691714 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile) | 6389 | SDHA | Uncertain significance | 1579402602 | RCV000807121; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233715 | 233715 | | | 5:g.233715G>T | - | | |
NM_004168.4(SDHA):c.1020A>G (p.Arg340=) | 6389 | SDHA | Likely benign | 2126577996 | RCV002119564; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233716 | 233716 | | | 233716 | - | | |
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala) | 6389 | SDHA | Uncertain significance | 1579402616 | RCV000811773; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233718 | 233718 | | | 5:g.233718A>C | - | | |
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly) | 6389 | SDHA | Uncertain significance | -1 | RCV003005569; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233718 | 233718 | | | NC_000005.9:g.233718A>G | - | | |
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del) | 6389 | SDHA | Uncertain significance | 2126578027 | RCV001864744; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233720 | 233722 | | | 233719 | - | | |
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu) | 6389 | SDHA | Uncertain significance | 1735562520 | RCV001864880; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233720 | 233720 | | | 233720 | - | | |
NM_004168.4(SDHA):c.1026G>T (p.Val342=) | 6389 | SDHA | Likely benign | 1060505004 | RCV000475138|RCV002383906; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233722 | 233722 | | | NC_000005.9:g.233722G>T | ClinGen:CA16611839 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1026G>A (p.Val342=) | 6389 | SDHA | Likely benign | 1060505004 | RCV000553862|RCV002384219; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233722 | 233722 | | | 5:g.233722G>A | ClinGen:CA442691718 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu) | 6389 | SDHA | Uncertain significance | 2126578052 | RCV001923192; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233723 | 233723 | | | 233723 | - | | |
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu) | 6389 | SDHA | Uncertain significance | 1218116319 | RCV001068605|RCV002379612|RCV003473694; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 233724 | 233724 | | | 5:g.233724T>A | - | | |
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002842203; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233724 | 233724 | | | NC_000005.9:g.233724T>C | - | | |
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala) | 6389 | SDHA | Uncertain significance | 1735563330 | RCV001208094; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233726 | 233726 | | | 5:g.233726T>G | - | | |
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs) | 6389 | SDHA | Pathogenic | 2126578081 | RCV001381070; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233726 | 233727 | | | 233725 | - | | |
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr) | 6389 | SDHA | Uncertain significance | 1735563548 | RCV001056738|RCV002379570; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233727 | 233727 | | | 5:g.233727C>A | - | | |
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe) | 6389 | SDHA | Uncertain significance | 1735563548 | RCV001307448; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233727 | 233727 | | | 233727 | - | | |
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp) | 6389 | SDHA | Uncertain significance | 760598746 | RCV000575068|RCV000998345|RCV001235731|RCV003471905; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 233729 | 233729 | | | 5:g.233729C>T | ClinGen:CA3173067 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln) | 6389 | SDHA | Uncertain significance | 1483236652 | RCV000530018|RCV001017082; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233730 | 233730 | | | NC_000005.9:g.233730G>A | ClinGen:CA359012928 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1035del (p.Ser346fs) | 6389 | SDHA | Pathogenic | 2126578126 | RCV001935112; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233730 | 233730 | | | 233729 | - | | |
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp) | 6389 | SDHA | Uncertain significance | -1 | RCV000694354; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233733 | 233734 | | | NC_000005.9:g.233733_233734inv | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu) | 6389 | SDHA | Uncertain significance | 1735564312 | RCV001060966|RCV002393299; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233733 | 233734 | | | NC_000005.9:g.233733_233734delinsTG | - | | |
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys) | 6389 | SDHA | Uncertain significance | 1041948 | RCV001368729|RCV003169884; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233733 | 233733 | | | 233733 | - | | |
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) | 6389 | SDHA | Benign | 1041949 | RCV000118311|RCV000162943|RCV000274141|RCV000319420|RCV000368680|RCV001509671|RCV001711288|RCV003315675; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50 | 5 | 233734 | 233734 | | | 5:g.233734C>G | ClinGen:CA155142 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1038C>T (p.Ser346=) | 6389 | SDHA | Likely benign | 1041949 | RCV000576001|RCV000599963|RCV000932394; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233734 | 233734 | | | 5:g.233734C>T | ClinGen:CA3173068 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1039A>G (p.Met347Val) | 6389 | SDHA | Uncertain significance | 1245387180 | RCV001359006|RCV002395791; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233735 | 233735 | | | 233735 | - | | |
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr) | 6389 | SDHA | Uncertain significance | 1553999054 | RCV000546880|RCV002395442; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233736 | 233736 | | | 5:g.233736T>C | ClinGen:CA359012947 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile) | 6389 | SDHA | Uncertain significance | 1560994934 | RCV000701089|RCV001009777; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233737 | 233737 | | | 5:g.233737G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser) | 6389 | SDHA | Uncertain significance | 371484111 | RCV000469012|RCV002393169; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233738 | 233738 | | | NC_000005.9:g.233738A>T | ClinGen:CA3173069 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala) | 6389 | SDHA | Uncertain significance | 371484111 | RCV000573837|RCV000804322; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233738 | 233738 | | | NC_000005.9:g.233738A>G | ClinGen:CA359012961 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1044T>A (p.Thr348=) | 6389 | SDHA | Likely benign | 1553999055 | RCV000564316|RCV001419846; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233740 | 233740 | | | NC_000005.9:g.233740T>A | ClinGen:CA442691731 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1053C>A (p.Ile351=) | 6389 | SDHA | Likely benign | 2126578352 | RCV002170126|RCV002398153; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233749 | 233749 | | | 233749 | - | | |
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) | 6389 | SDHA | Pathogenic | 746165168 | RCV000232152|RCV000567631|RCV001329180|RCV003316268; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M | 5 | 233750 | 233750 | | | NC_000005.9:g.233750C>T | ClinGen:CA10582426 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 199844384 | RCV000411606|RCV000563279|RCV000765832|RCV000463749|RCV000498298|RCV001153526|RCV001153527|RCV001153528|RCV003475997; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO | 5 | 233751 | 233751 | | | NC_000005.9:g.233751G>A | ClinGen:CA3173073 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu) | 6389 | SDHA | Uncertain significance | 199844384 | RCV001915420|RCV003407918; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 233751 | 233751 | | | 233751 | - | | |
NM_004168.4(SDHA):c.1056A>C (p.Arg352=) | 6389 | SDHA | Likely benign | 779804839 | RCV001482294|RCV003298851; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233752 | 233752 | | | 233752 | - | | |
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys) | 6389 | SDHA | Uncertain significance | 1328911130 | RCV001301495|RCV002411958; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233753 | 233753 | | | 233753 | - | | |
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala) | 6389 | SDHA | Uncertain significance | 2126578405 | RCV002019630; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233754 | 233754 | | | 233754 | - | | |
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg) | 6389 | SDHA | Uncertain significance | 746611221 | RCV001009814|RCV002549304|RCV003473563; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 233756 | 233756 | | | 5:g.233756G>A | - | | |
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg) | 6389 | SDHA | Uncertain significance | 746611221 | RCV001302113; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233756 | 233756 | | | 233756 | - | | |
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu) | 6389 | SDHA | Uncertain significance | 2126578424 | RCV002013131|RCV003170518; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233757 | 233757 | | | 233757 | - | | |
NM_004168.4(SDHA):c.1062A>T (p.Gly354=) | 6389 | SDHA | Uncertain significance | -1 | RCV003048786; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233758 | 233758 | | | | - | | |
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter) | 6389 | SDHA | Pathogenic | -1 | RCV003077360; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233759 | 233759 | | | NC_000005.9:g.233759A>T | - | | |
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile) | 6389 | SDHA | Uncertain significance | 1735568346 | RCV001324403; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233760 | 233760 | | | 233760 | - | | |
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV002898874; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233760 | 233760 | | | NC_000005.9:g.233760G>C | - | | |
NM_004168.4(SDHA):c.1064+1G>T | 6389 | SDHA | Likely pathogenic | 1579402807 | RCV000807030|RCV002406799; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233761 | 233761 | | | 5:g.233761G>T | - | | |
NM_004168.4(SDHA):c.1064+2T>A | 6389 | SDHA | Likely pathogenic | 1553999072 | RCV000525989|RCV000569896|RCV003476301; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 233762 | 233762 | | | 5:g.233762T>A | ClinGen:CA359013038 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1064+2T>G | 6389 | SDHA | Likely pathogenic | 1553999072 | RCV002048798; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233762 | 233762 | | | 233762 | - | | |
NM_004168.4(SDHA):c.1064+3G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553999078 | RCV000562188|RCV001062134; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233763 | 233763 | | | 5:g.233763G>A | ClinGen:CA658657424 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1064+3G>C | 6389 | SDHA | Uncertain significance | -1 | RCV002685823; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233763 | 233763 | | | NC_000005.9:g.233763G>C | - | | |
NM_004168.4(SDHA):c.1064+4C>T | 6389 | SDHA | Likely benign | 768276870 | RCV000225995|RCV000575680|RCV001722238; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 233764 | 233764 | | | 5:g.233764C>T | ClinGen:CA3173076 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1064+4C>A | 6389 | SDHA | Uncertain significance | 768276870 | RCV000559435; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233764 | 233764 | | | 5:g.233764C>A | ClinGen:CA658657425 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1064+5GT[3] | 6389 | SDHA | Likely benign | 2126578488 | RCV002205860; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233764 | 233765 | | | 233764 | - | | |
NM_004168.4(SDHA):c.1064+4C>G | 6389 | SDHA | Uncertain significance | -1 | RCV002781314; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233764 | 233764 | | | NC_000005.9:g.233764C>G | - | | |
NM_004168.4(SDHA):c.1064+5G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 200021115 | RCV000411854|RCV000466048|RCV000561515|RCV001584106; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 233765 | 233765 | | | NC_000005.9:g.233765G>A | ClinGen:CA3173077 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1064+5G>C | 6389 | SDHA | Uncertain significance | 200021115 | RCV000471485|RCV000565700; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 233765 | 233765 | | | NC_000005.9:g.233765G>C | ClinGen:CA3173078 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1064+7G>T | 6389 | SDHA | Likely benign | 2126578502 | RCV001494572; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 233767 | 233767 | | | 233767 | - | | |
NM_004168.4(SDHA):c.1064+10A>G | 6389 | SDHA | Likely benign | 773168516 | RCV000470996; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 233770 | 233770 | | | NC_000005.9:g.233770A>G | ClinGen:CA3173080 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1065-20A>G | 6389 | SDHA | Likely benign | -1 | RCV002847468; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235239 | 235239 | | | NC_000005.9:g.235239A>G | - | | |
NM_004168.4(SDHA):c.1065-17_1065-15dup | 6389 | SDHA | Likely benign | -1 | RCV002891116; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235239 | 235240 | | | NC_000005.9:g.235242_235244dup | - | | |
NM_004168.4(SDHA):c.1065-19T>C | 6389 | SDHA | Likely benign | 1735682737 | RCV002105310; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235240 | 235240 | | | 235240 | - | | |
NM_004168.4(SDHA):c.1065-17G>A | 6389 | SDHA | Likely benign | 1268945057 | RCV002084808; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235242 | 235242 | | | 235242 | - | | |
NM_004168.4(SDHA):c.1065-17G>C | 6389 | SDHA | Likely benign | 1268945057 | RCV002202627; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235242 | 235242 | | | 235242 | - | | |
NM_004168.4(SDHA):c.1065-16T>C | 6389 | SDHA | Likely benign | 765268601 | RCV002089356; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235243 | 235243 | | | 235243 | - | | |
NM_004168.4(SDHA):c.1065-12_1065-11del | 6389 | SDHA | Likely benign | -1 | RCV002633507; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235246 | 235247 | | | NC_000005.9:g.235247_235248del | - | | |
NM_004168.4(SDHA):c.1065-10G>C | 6389 | SDHA | Likely benign | 2126584071 | RCV002145621; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235249 | 235249 | | | 235249 | - | | |
NM_004168.4(SDHA):c.1065-8C>G | 6389 | SDHA | Uncertain significance | -1 | RCV002602968; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235251 | 235251 | | | NC_000005.9:g.235251C>G | - | | |
NM_004168.4(SDHA):c.1065-7T>C | 6389 | SDHA | Likely benign | 1426933226 | RCV002075869; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235252 | 235252 | | | 235252 | - | | |
NM_004168.4(SDHA):c.1065-6T>C | 6389 | SDHA | Likely benign | 1579406151 | RCV001402307; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235253 | 235253 | | | 5:g.235253T>C | - | | |
NM_004168.4(SDHA):c.1065-5A>G | 6389 | SDHA | Likely benign | 1579406152 | RCV000922838; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235254 | 235254 | | | 5:g.235254A>G | - | | |
NM_004168.4(SDHA):c.1065-4C>A | 6389 | SDHA | Likely benign | 575007678 | RCV000543416|RCV000573469; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235255 | 235255 | | | NC_000005.9:g.235255C>A | ClinGen:CA3173107 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1065A>G (p.Arg355=) | 6389 | SDHA | Uncertain significance | 2126584114 | RCV002004361; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235259 | 235259 | | | 235259 | - | | |
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg) | 6389 | SDHA | Uncertain significance | 1735685410 | RCV001229481; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235263 | 235263 | | | 5:g.235263T>C | - | | |
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr) | 6389 | SDHA | Uncertain significance | 1560996433 | RCV000704504|RCV002422592; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235264 | 235264 | | | 5:g.235264G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1071T>C (p.Cys357=) | 6389 | SDHA | Likely benign | 1553999410 | RCV000535339; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235265 | 235265 | | | 5:g.235265T>C | ClinGen:CA442691922 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp) | 6389 | SDHA | Uncertain significance | -1 | RCV002417113|RCV003097419; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235267 | 235267 | | | 235267 | - | | |
NM_004168.4(SDHA):c.1074C>T (p.Gly358=) | 6389 | SDHA | Likely benign | 1421396049 | RCV001449395|RCV001528612|RCV002421015; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235268 | 235268 | | | 235268 | - | | |
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser) | 6389 | SDHA | Uncertain significance | 758817818 | RCV001237755; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235269 | 235269 | | | 5:g.235269C>T | - | | |
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) | 6389 | SDHA | Uncertain significance | 766779919 | RCV000649417|RCV002499109|RCV002422379|RCV003472042; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO | 5 | 235272 | 235272 | | | NC_000005.9:g.235272G>A | ClinGen:CA3173109 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1083A>G (p.Lys361=) | 6389 | SDHA | Likely benign | 1579406203 | RCV001418893|RCV002427312; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235277 | 235277 | | | 5:g.235277A>G | - | | |
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer) | 6389 | SDHA | Uncertain significance | 1735687291 | RCV001205713; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235277 | 235278 | | | 5:g.235277_235278insTCT | - | | |
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn) | 6389 | SDHA | Uncertain significance | -1 | RCV003050212; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235277 | 235277 | | | NC_000005.9:g.235277A>C | - | | |
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr) | 6389 | SDHA | Uncertain significance | 2126584224 | RCV001360847; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235278 | 235278 | | | 235278 | - | | |
NM_004168.4(SDHA):c.1086T>C (p.Asp362=) | 6389 | SDHA | Likely benign | 2126584236 | RCV001409209; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235280 | 235280 | | | 235280 | - | | |
NM_004168.4(SDHA):c.1087C>G (p.His363Asp) | 6389 | SDHA | Uncertain significance | 1553999417 | RCV000649392; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235281 | 235281 | | | NC_000005.9:g.235281C>G | ClinGen:CA359013427 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr) | 6389 | SDHA | Uncertain significance | 1553999417 | RCV001298787; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235281 | 235281 | | | 235281 | - | | |
NM_004168.4(SDHA):c.1088A>G (p.His363Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002297769; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235282 | 235282 | | | 235282 | - | | |
NM_004168.4(SDHA):c.1089C>T (p.His363=) | 6389 | SDHA | Benign/Likely benign | 368488126 | RCV000423532|RCV000473235|RCV001009877; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235283 | 235283 | | | 5:g.235283C>T | ClinGen:CA3173110 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1089C>A (p.His363Gln) | 6389 | SDHA | Uncertain significance | 368488126 | RCV001349753; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235283 | 235283 | | | 235283 | - | | |
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile) | 6389 | SDHA | Uncertain significance | 372738835 | RCV000463908|RCV000561241; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235284 | 235284 | | | NC_000005.9:g.235284G>A | ClinGen:CA3173111 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu) | 6389 | SDHA | Uncertain significance | 372738835 | RCV000535289; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235284 | 235284 | | | NC_000005.9:g.235284G>C | ClinGen:CA359013435 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1092C>T (p.Val364=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 886060515 | RCV000260734|RCV000316002|RCV000355512|RCV002446606; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235286 | 235286 | | | NC_000005.9:g.235286C>T | ClinGen:CA10620256 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.1092C>G (p.Val364=) | 6389 | SDHA | Likely benign | 886060515 | RCV000977019; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235286 | 235286 | | | 5:g.235286C>G | - | | |
NM_004168.4(SDHA):c.1096C>T (p.Leu366=) | 6389 | SDHA | Likely benign | 1305056679 | RCV001505608; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235290 | 235290 | | | 235290 | - | | |
NM_004168.4(SDHA):c.1098G>C (p.Leu366=) | 6389 | SDHA | Likely benign | 1346189100 | RCV001405764|RCV003170024; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235292 | 235292 | | | 235292 | - | | |
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) | 6389 | SDHA | Uncertain significance | 780941330 | RCV000806830|RCV003166259; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235293 | 235293 | | | 5:g.235293C>G | - | | |
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del) | 6389 | SDHA | Uncertain significance | 1735689664 | RCV001044195; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235295 | 235297 | | | 5:g.235295_235297del | - | | |
NM_004168.4(SDHA):c.1101G>A (p.Gln367=) | 6389 | SDHA | Likely benign | -1 | RCV002433073|RCV003101920; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235295 | 235295 | | | | - | | |
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro) | 6389 | SDHA | Uncertain significance | 2126584397 | RCV002046505; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235297 | 235297 | | | 235297 | - | | |
NM_004168.4(SDHA):c.1104G>A (p.Leu368=) | 6389 | SDHA | Likely benign | 2126584401 | RCV001417912|RCV002456674; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235298 | 235298 | | | 235298 | - | | |
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr) | 6389 | SDHA | Uncertain significance | 2126584410 | RCV002002578|RCV002425349; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235299 | 235299 | | | 235299 | - | | |
NM_004168.4(SDHA):c.1107C>A (p.His369Gln) | 6389 | SDHA | Uncertain significance | 1268877544 | RCV000649425|RCV002458124; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235301 | 235301 | | | NC_000005.9:g.235301C>A | ClinGen:CA359013470 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1108C>A (p.His370Asn) | 6389 | SDHA | Uncertain significance | 1060503704 | RCV000464973|RCV003168870; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235302 | 235302 | | | NC_000005.9:g.235302C>A | ClinGen:CA16611954 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr) | 6389 | SDHA | Uncertain significance | 1060503704 | RCV002021688; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235302 | 235302 | | | 235302 | - | | |
NM_004168.4(SDHA):c.1110C>T (p.His370=) | 6389 | SDHA | Likely benign | 1579406318 | RCV001486585|RCV002427162; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235304 | 235304 | | | 5:g.235304C>T | - | | |
NM_004168.4(SDHA):c.1111C>T (p.Leu371=) | 6389 | SDHA | Likely benign | 1735690368 | RCV001462106; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235305 | 235305 | | | 5:g.235305C>T | - | | |
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val) | 6389 | SDHA | Uncertain significance | 1735690368 | RCV001963487; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235305 | 235305 | | | 235305 | - | | |
NM_004168.4(SDHA):c.1113A>G (p.Leu371=) | 6389 | SDHA | Likely benign | 2126584480 | RCV001464124; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235307 | 235307 | | | 235307 | - | | |
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) | 6389 | SDHA | Uncertain significance | 141493530 | RCV000477582|RCV000575145|RCV001775824|RCV002481482|RCV003147470; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011 | 5 | 235309 | 235309 | | | NC_000005.9:g.235309C>G | ClinGen:CA3173113 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu) | 6389 | SDHA | Uncertain significance | 141493530 | RCV001221573|RCV002436856; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235309 | 235309 | | | 5:g.235309C>T | - | | |
NM_004168.4(SDHA):c.1116T>G (p.Pro372=) | 6389 | SDHA | Likely benign | 1735691014 | RCV002088573|RCV002434474; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235310 | 235310 | | | 235310 | - | | |
NM_004168.4(SDHA):c.1119A>G (p.Pro373=) | 6389 | SDHA | Likely benign | 1428505412 | RCV000866761|RCV002434092; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235313 | 235313 | | | 5:g.235313A>G | - | | |
NM_004168.4(SDHA):c.1119A>C (p.Pro373=) | 6389 | SDHA | Likely benign | 1428505412 | RCV000871881|RCV002434125; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235313 | 235313 | | | 5:g.235313A>C | - | | |
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp) | 6389 | SDHA | Uncertain significance | 377283167 | RCV000815226|RCV001569248|RCV002433982; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235316 | 235316 | | | 5:g.235316G>T | - | | |
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) | 6389 | SDHA | Pathogenic | 1735691933 | RCV001063568|RCV002436649; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235317 | 235317 | | | 5:g.235317C>T | - | | |
NM_004168.4(SDHA):c.1126C>T (p.Leu376=) | 6389 | SDHA | Likely benign | 1579406388 | RCV000926983|RCV002445036; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235320 | 235320 | | | 5:g.235320C>T | - | | |
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) | 6389 | SDHA | Uncertain significance | 1433477205 | RCV000821732|RCV001017412|RCV001551721|RCV003447567; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011 | 5 | 235321 | 235321 | | | 5:g.235321T>C | - | | |
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro) | 6389 | SDHA | Uncertain significance | 1735692451 | RCV001309196; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235323 | 235323 | | | 235323 | - | | |
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp) | 6389 | SDHA | Uncertain significance | 1553999443 | RCV000547611; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235324 | 235324 | | | 5:g.235324C>A | ClinGen:CA359013518 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val) | 6389 | SDHA | Uncertain significance | 1553999443 | RCV001317575|RCV002322230; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235324 | 235324 | | | 235324 | - | | |
NM_004168.4(SDHA):c.1131C>T (p.Ala377=) | 6389 | SDHA | Likely benign | 2126584661 | RCV002175720|RCV002325690; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235325 | 235325 | | | 235325 | - | | |
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala) | 6389 | SDHA | Uncertain significance | 1224187912 | RCV000820717|RCV002442752; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235326 | 235326 | | | 5:g.235326A>G | - | | |
NM_004168.4(SDHA):c.1133dup (p.Arg379fs) | 6389 | SDHA | Pathogenic | -1 | RCV003054135; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235326 | 235327 | | | NC_000005.9:g.235327dup | - | | |
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 777420907 | RCV000649406|RCV001009958; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235327 | 235327 | | | 5:g.235327C>T | ClinGen:CA3173115 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1134G>A (p.Thr378=) | 6389 | SDHA | Likely benign | 370002515 | RCV000461455|RCV001009968; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235328 | 235328 | | | NC_000005.9:g.235328G>A | ClinGen:CA16612055 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1134G>C (p.Thr378=) | 6389 | SDHA | Likely benign | 370002515 | RCV002216505|RCV002324549; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235328 | 235328 | | | 235328 | - | | |
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) | 6389 | SDHA | Uncertain significance | 749309213 | RCV000214185|RCV000459361|RCV000514432; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 235329 | 235329 | | | 5:g.235329C>T | ClinGen:CA3173116 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) | 6389 | SDHA | Uncertain significance | 770719847 | RCV000477473|RCV001009945|RCV002254698; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235330 | 235330 | | | NC_000005.9:g.235330G>A | ClinGen:CA3173117 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu) | 6389 | SDHA | Uncertain significance | 770719847 | RCV002048420; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235330 | 235330 | | | 235330 | - | | |
NM_004168.4(SDHA):c.1138del (p.Leu380fs) | 6389 | SDHA | Pathogenic | -1 | RCV002791318; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235331 | 235331 | | | NC_000005.9:g.235332del | - | | |
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met) | 6389 | SDHA | Uncertain significance | 1735694280 | RCV001301577; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235332 | 235332 | | | 235332 | - | | |
NM_004168.4(SDHA):c.1138C>T (p.Leu380=) | 6389 | SDHA | Likely benign | -1 | RCV002801739; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235332 | 235332 | | | | - | | |
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV003042606; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235333 | 235333 | | | NC_000005.9:g.235333T>G | - | | |
NM_004168.4(SDHA):c.1140G>A (p.Leu380=) | 6389 | SDHA | Likely benign | 146348714 | RCV000473616|RCV000831510|RCV002455906; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235334 | 235334 | | | NC_000005.9:g.235334G>A | ClinGen:CA16611883 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1140G>C (p.Leu380=) | 6389 | SDHA | Likely benign | 146348714 | RCV000871043|RCV002332820; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235334 | 235334 | | | 5:g.235334G>C | - | | |
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala) | 6389 | SDHA | Uncertain significance | 1735694889 | RCV001294635; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235335 | 235335 | | | 235335 | - | | |
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup) | 6389 | SDHA | Uncertain significance | 2126584776 | RCV002022191; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235336 | 235337 | | | 235336 | - | | |
NM_004168.4(SDHA):c.1143T>C (p.Pro381=) | 6389 | SDHA | Likely benign | 1735695108 | RCV001457382|RCV002456774; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235337 | 235337 | | | 235337 | - | | |
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser) | 6389 | SDHA | Uncertain significance | 1272640628 | RCV000649451|RCV003162972; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235338 | 235338 | | | NC_000005.9:g.235338G>A | ClinGen:CA359013541 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp) | 6389 | SDHA | Uncertain significance | 373067620 | RCV001963325; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235339 | 235339 | | | 235339 | - | | |
NM_004168.4(SDHA):c.1146C>A (p.Gly382=) | 6389 | SDHA | Likely benign | 768947225 | RCV000872236|RCV002454016; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235340 | 235340 | | | 5:g.235340C>A | - | | |
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val) | 6389 | SDHA | Uncertain significance | 2126584806 | RCV001365720; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235341 | 235341 | | | 235341 | - | | |
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) | 6389 | SDHA | Uncertain significance | 776888362 | RCV000528318|RCV000765833|RCV002350352; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MOND | 5 | 235344 | 235344 | | | 5:g.235344T>G | ClinGen:CA3173121 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) | 6389 | SDHA | Pathogenic | 151170408 | RCV000221764|RCV000810033|RCV001799638|RCV002307451|RCV002254689; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D0 | 5 | 235345 | 235345 | | | NC_000005.9:g.235345C>G | ClinGen:CA3173122 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1152A>T (p.Ser384=) | 6389 | SDHA | Likely benign | 2126584840 | RCV001429506|RCV002350841; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235346 | 235346 | | | 235346 | - | | |
NM_004168.4(SDHA):c.1155G>A (p.Glu385=) | 6389 | SDHA | Likely benign | 765356526 | RCV000565438|RCV000867238; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235349 | 235349 | | | 5:g.235349G>A | ClinGen:CA3173123 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala) | 6389 | SDHA | Uncertain significance | 1553999461 | RCV000649410; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235350 | 235350 | | | NC_000005.9:g.235350A>G | ClinGen:CA359013566 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile) | 6389 | SDHA | Uncertain significance | 773218958 | RCV000649424|RCV003162971; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235351 | 235351 | | | NC_000005.9:g.235351C>T | ClinGen:CA3173124 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1158A>C (p.Thr386=) | 6389 | SDHA | Likely benign | 2126584886 | RCV001396966; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235352 | 235352 | | | 235352 | - | | |
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr) | 6389 | SDHA | Uncertain significance | 2126584893 | RCV001931110; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235353 | 235353 | | | 235353 | - | | |
NM_004168.4(SDHA):c.1161C>T (p.Ala387=) | 6389 | SDHA | Likely benign | -1 | RCV003084128; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235355 | 235355 | | | | - | | |
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu) | 6389 | SDHA | Uncertain significance | 1579406553 | RCV001981606|RCV003339852; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235356 | 235356 | | | 235356 | - | | |
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr) | 6389 | SDHA | Uncertain significance | 1419241279 | RCV001983131; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235357 | 235357 | | | 235357 | - | | |
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val) | 6389 | SDHA | Uncertain significance | 1316310818 | RCV001337806|RCV002322268; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235359 | 235359 | | | 235359 | - | | |
NM_004168.4(SDHA):c.1167C>T (p.Ile389=) | 6389 | SDHA | Likely benign | 2126584963 | RCV002220838|RCV003339914; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235361 | 235361 | | | 235361 | - | | |
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) | 6389 | SDHA | Benign | 35277230 | RCV000118312|RCV000163257|RCV000285173|RCV000321449|RCV000379943|RCV000470511|RCV003315676; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50 | 5 | 235364 | 235364 | | | 5:g.235364C>T | ClinGen:CA155144 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu) | 6389 | SDHA | Uncertain significance | 35277230 | RCV001227291; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235364 | 235364 | | | 5:g.235364C>A | - | | |
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser) | 6389 | SDHA | Uncertain significance | 376597185 | RCV000536076; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235365 | 235365 | | | 5:g.235365G>T | ClinGen:CA359013600 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr) | 6389 | SDHA | Uncertain significance | 376597185 | RCV000649414|RCV002331241|RCV003472041; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 235365 | 235365 | | | NC_000005.9:g.235365G>A | ClinGen:CA3173126 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly) | 6389 | SDHA | Uncertain significance | -1 | RCV002332241|RCV003094655; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235366 | 235366 | | | 235366 | - | | |
NM_004168.4(SDHA):c.1173T>C (p.Ala391=) | 6389 | SDHA | Likely benign | 1579406627 | RCV000918088; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235367 | 235367 | | | 5:g.235367T>C | - | | |
NM_004168.4(SDHA):c.1176C>T (p.Gly392=) | 6389 | SDHA | Likely benign | 1041950 | RCV000461984|RCV000561058|RCV002475895; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 235370 | 235370 | | | NC_000005.9:g.235370C>T | ClinGen:CA3173128 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1176C>A (p.Gly392=) | 6389 | SDHA | Likely benign | 1041950 | RCV002164334; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235370 | 235370 | | | 235370 | - | | |
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 372989971 | RCV000548710|RCV003139851|RCV001329181|RCV002258966; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O | 5 | 235371 | 235371 | | | NC_000005.9:g.235371G>T | ClinGen:CA3173129 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 372989971 | RCV001010145|RCV001156141|RCV001156142|RCV001156140|RCV001238661|RCV003432990; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:01 | 5 | 235371 | 235371 | | | 5:g.235371G>A | - | | |
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu) | 6389 | SDHA | Uncertain significance | 372989971 | RCV001038411; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235371 | 235371 | | | 5:g.235371G>C | - | | |
NM_004168.4(SDHA):c.1182C>T (p.Asp394=) | 6389 | SDHA | Likely benign | 377317558 | RCV000232577|RCV002338728|RCV003316269; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235376 | 235376 | | | 5:g.235376C>T | ClinGen:CA3173131 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu) | 6389 | SDHA | Uncertain significance | -1 | RCV003042586; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235376 | 235376 | | | NC_000005.9:g.235376C>A | - | | |
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe) | 6389 | SDHA | Uncertain significance | 748683825 | RCV000524573|RCV002330948; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235377 | 235377 | | | NC_000005.9:g.235377G>T | ClinGen:CA359013622 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) | 6389 | SDHA | Uncertain significance | 748683825 | RCV000649396|RCV001788309|RCV002334184|RCV003472039; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 235377 | 235377 | | | NC_000005.9:g.235377G>A | ClinGen:CA3173132 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1185C>G (p.Val395=) | 6389 | SDHA | Likely benign | 2126585130 | RCV001456990; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235379 | 235379 | | | 235379 | - | | |
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met) | 6389 | SDHA | Uncertain significance | 757251714 | RCV000571028|RCV000706201; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235381 | 235381 | | | NC_000005.9:g.235381C>T | ClinGen:CA3173133 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 778667374 | RCV000541698|RCV001010227|RCV001156143|RCV001156144|RCV001157830; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M | 5 | 235382 | 235382 | | | 5:g.235382G>A | ClinGen:CA3173134 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg) | 6389 | SDHA | Uncertain significance | 745798689 | RCV000561376|RCV001853800; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235384 | 235384 | | | 5:g.235384A>G | ClinGen:CA359013635 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr) | 6389 | SDHA | Uncertain significance | 745798689 | RCV001342100|RCV003294348; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235384 | 235384 | | | 235384 | - | | |
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn) | 6389 | SDHA | Uncertain significance | 1035794713 | RCV000817414|RCV001843554|RCV002336693; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235385 | 235385 | | | 5:g.235385G>C | - | | |
NM_004168.4(SDHA):c.1194G>A (p.Glu398=) | 6389 | SDHA | Likely benign | 1735703214 | RCV002086013|RCV003339921; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235388 | 235388 | | | 235388 | - | | |
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser) | 6389 | SDHA | Uncertain significance | 2126585242 | RCV001963848; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235389 | 235389 | | | 235389 | - | | |
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) | 6389 | SDHA | Uncertain significance | 878854625 | RCV000226409|RCV000663203|RCV001010179; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235390 | 235390 | | | 5:g.235390C>T | ClinGen:CA10582427 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln) | 6389 | SDHA | Uncertain significance | 878854625 | RCV000570997|RCV000658024|RCV001221392; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235390 | 235390 | | | NC_000005.9:g.235390C>A | ClinGen:CA359013648 | | |
NM_004168.4(SDHA):c.1197G>A (p.Pro399=) | 6389 | SDHA | Likely benign | 771919335 | RCV000474220|RCV002341120; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235391 | 235391 | | | NC_000005.9:g.235391G>A | ClinGen:CA3173136 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1197G>T (p.Pro399=) | 6389 | SDHA | Likely benign | 771919335 | RCV000877457|RCV002336858; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235391 | 235391 | | | 5:g.235391G>T | - | | |
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn) | 6389 | SDHA | Uncertain significance | 876660886 | RCV000216966|RCV001041220; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235393 | 235393 | | | 5:g.235393T>A | ClinGen:CA10578629 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1200C>T (p.Ile400=) | 6389 | SDHA | Likely benign | 748383004 | RCV001413784|RCV002350797; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235394 | 235394 | | | 235394 | - | | |
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser) | 6389 | SDHA | Uncertain significance | 1560996818 | RCV001301498|RCV003166697; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235395 | 235395 | | | 235395 | - | | |
NM_004168.4(SDHA):c.1203T>C (p.Pro401=) | 6389 | SDHA | Likely benign | 1553999484 | RCV000649484|RCV002343345; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235397 | 235397 | | | 5:g.235397T>C | ClinGen:CA442692008 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1203T>G (p.Pro401=) | 6389 | SDHA | Likely benign | -1 | RCV002351946|RCV003096789; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235397 | 235397 | | | | - | | |
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu) | 6389 | SDHA | Uncertain significance | 2126585344 | RCV001914109|RCV002344046; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235398 | 235398 | | | 235398 | - | | |
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly) | 6389 | SDHA | Uncertain significance | 2126585353 | RCV001359427; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235399 | 235399 | | | 235399 | - | | |
NM_004168.4(SDHA):c.1206C>T (p.Val402=) | 6389 | SDHA | Likely benign | 1183961449 | RCV000555221|RCV002350353; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235400 | 235400 | | | NC_000005.9:g.235400C>T | ClinGen:CA442692010 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1206C>G (p.Val402=) | 6389 | SDHA | Likely benign | -1 | RCV002598619; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235400 | 235400 | | | | - | | |
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe) | 6389 | SDHA | Uncertain significance | -1 | RCV002706300; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235401 | 235401 | | | NC_000005.9:g.235401C>T | - | | |
NM_004168.4(SDHA):c.1209C>A (p.Leu403=) | 6389 | SDHA | Likely benign | 2126585389 | RCV002197842|RCV002346384; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235403 | 235403 | | | 235403 | - | | |
NM_004168.4(SDHA):c.1209C>T (p.Leu403=) | 6389 | SDHA | Likely benign | -1 | RCV002359621|RCV003103229; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235403 | 235403 | | | | - | | |
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser) | 6389 | SDHA | Uncertain significance | 769936006 | RCV001299758; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235404 | 235404 | | | 235404 | - | | |
NM_004168.4(SDHA):c.1212C>A (p.Pro404=) | 6389 | SDHA | Likely benign | 1579406812 | RCV001462181|RCV002354729; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235406 | 235406 | | | 5:g.235406C>A | - | | |
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn) | 6389 | SDHA | Uncertain significance | 1553999491 | RCV000526540|RCV002358582; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235408 | 235408 | | | 5:g.235408C>A | ClinGen:CA359013681 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002295255; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235408 | 235408 | | | 235408 | - | | |
NM_004168.4(SDHA):c.1215C>T (p.Thr405=) | 6389 | SDHA | Likely benign | 762888704 | RCV000229253|RCV001010329; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235409 | 235409 | | | 5:g.235409C>T | ClinGen:CA3173141 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1215C>A (p.Thr405=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 762888704 | RCV001066932|RCV002355087; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235409 | 235409 | | | 5:g.235409C>A | - | | |
NM_004168.4(SDHA):c.1216G>A (p.Val406Met) | 6389 | SDHA | Uncertain significance | 1258201485 | RCV000562001|RCV000649439; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235410 | 235410 | | | 5:g.235410G>A | ClinGen:CA359013684 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1220A>G (p.His407Arg) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 374087393 | RCV001010388|RCV001862768; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235414 | 235414 | | | 5:g.235414A>G | - | | |
NM_004168.4(SDHA):c.1220A>T (p.His407Leu) | 6389 | SDHA | Uncertain significance | 374087393 | RCV001318441; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235414 | 235414 | | | 235414 | - | | |
NM_004168.4(SDHA):c.1221T>C (p.His407=) | 6389 | SDHA | Likely benign | 2126585516 | RCV002175136; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235415 | 235415 | | | 235415 | - | | |
NM_004168.4(SDHA):c.1225A>C (p.Asn409His) | 6389 | SDHA | Uncertain significance | 1404377989 | RCV000539132|RCV001010422; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235419 | 235419 | | | 5:g.235419A>C | ClinGen:CA359013704 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr) | 6389 | SDHA | Uncertain significance | -1 | RCV002765474; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235419 | 235419 | | | NC_000005.9:g.235419A>T | - | | |
NM_004168.4(SDHA):c.1227C>T (p.Asn409=) | 6389 | SDHA | Likely benign | 2126585562 | RCV001457627|RCV002377768; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235421 | 235421 | | | 235421 | - | | |
NM_004168.4(SDHA):c.1228A>G (p.Met410Val) | 6389 | SDHA | Uncertain significance | 876658852 | RCV000213886|RCV001312342; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235422 | 235422 | | | 5:g.235422A>G | ClinGen:CA10578630 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr) | 6389 | SDHA | Uncertain significance | 1553999505 | RCV000556000; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235423 | 235423 | | | NC_000005.9:g.235423T>C | ClinGen:CA359013716 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile) | 6389 | SDHA | Uncertain significance | 1735707028 | RCV001325014; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235424 | 235424 | | | 235424 | - | | |
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser) | 6389 | SDHA | Uncertain significance | 2126585602 | RCV001897788; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235425 | 235425 | | | 235425 | - | | |
NM_004168.4(SDHA):c.1233C>T (p.Gly411=) | 6389 | SDHA | Likely benign | 376530094 | RCV000468789|RCV000569519|RCV001821384; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 235427 | 235427 | | | NC_000005.9:g.235427C>T | ClinGen:CA3173143 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1233C>A (p.Gly411=) | 6389 | SDHA | Likely benign | 376530094 | RCV000532183|RCV002377145; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235427 | 235427 | | | 5:g.235427C>A | ClinGen:CA3173144 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) | 6389 | SDHA | Uncertain significance | 768055345 | RCV000233529|RCV000570013|RCV003475065; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 235428 | 235428 | | | NC_000005.9:g.235428G>T | ClinGen:CA3173146 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) | 6389 | SDHA | Uncertain significance | 768055345 | RCV000544502|RCV000564411|RCV002291665|RCV003451191|RCV003319374|RCV003476306; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 235428 | 235428 | | | NC_000005.9:g.235428G>A | ClinGen:CA3173145 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1236C>T (p.Gly412=) | 6389 | SDHA | Likely benign | -1 | RCV002863274; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235430 | 235430 | | | | - | | |
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser) | 6389 | SDHA | Uncertain significance | 1735708028 | RCV002017046|RCV002386906; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235434 | 235434 | | | 235434 | - | | |
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala) | 6389 | SDHA | Uncertain significance | 1735708028 | RCV002035714; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235434 | 235434 | | | 235434 | - | | |
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del) | 6389 | SDHA | Uncertain significance | 2126585682 | RCV001976281; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235435 | 235437 | | | 235434 | - | | |
NM_004168.4(SDHA):c.1242C>T (p.Pro414=) | 6389 | SDHA | Likely benign | 777306884 | RCV000227375|RCV000987495|RCV001010504|RCV003437020; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M | 5 | 235436 | 235436 | | | 5:g.235436C>T | ClinGen:CA3173147 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1245dup (p.Asn416fs) | 6389 | SDHA | Pathogenic | 2126585710 | RCV001893983; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235437 | 235438 | | | 235437 | - | | |
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala) | 6389 | SDHA | Uncertain significance | 2126585699 | RCV001917056; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235437 | 235437 | | | 235437 | - | | |
NM_004168.4(SDHA):c.1245C>G (p.Thr415=) | 6389 | SDHA | Likely benign | 2126585715 | RCV002203900; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235439 | 235439 | | | 235439 | - | | |
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp) | 6389 | SDHA | Uncertain significance | 1355851620 | RCV000796276|RCV001010533|RCV003472347; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 235440 | 235440 | | | 5:g.235440A>G | - | | |
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile) | 6389 | SDHA | Uncertain significance | 1409603646 | RCV001216224|RCV002393508; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235441 | 235441 | | | 5:g.235441A>T | - | | |
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002815280; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235441 | 235441 | | | NC_000005.9:g.235441A>G | - | | |
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys) | 6389 | SDHA | Uncertain significance | 528628545 | RCV000531820|RCV002413603; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235444 | 235444 | | | NC_000005.9:g.235444A>G | ClinGen:CA3173148 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu) | 6389 | SDHA | Uncertain significance | -1 | RCV002303880|RCV002409646|RCV003475333; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 235446 | 235446 | | | 235446 | - | | |
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg) | 6389 | SDHA | Uncertain significance | 1735709331 | RCV001237926|RCV001799749|RCV002411878|RCV003473815; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015 | 5 | 235449 | 235449 | | | 5:g.235449G>A | - | | |
NM_004168.4(SDHA):c.1257G>A (p.Gly419=) | 6389 | SDHA | Likely benign | 753410011 | RCV000474023|RCV001010368; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235451 | 235451 | | | NC_000005.9:g.235451G>A | ClinGen:CA3173149 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1257G>T (p.Gly419=) | 6389 | SDHA | Likely benign | 753410011 | RCV002095586|RCV002423351; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235451 | 235451 | | | 235451 | - | | |
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) | 6389 | SDHA | Pathogenic | 1579407009 | RCV000792416|RCV003453639; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235452 | 235452 | | | 5:g.235452C>T | - | | |
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg) | 6389 | SDHA | Uncertain significance | 1735709829 | RCV001342075|RCV002412074; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235453 | 235453 | | | 235453 | - | | |
NM_004168.4(SDHA):c.1260G>A (p.Gln420=) | 6389 | SDHA | Uncertain significance | -1 | RCV002412599|RCV003099922; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235454 | 235454 | | | | - | | |
NM_004168.4(SDHA):c.1260+1G>A | 6389 | SDHA | Likely pathogenic | 1735710012 | RCV001052460|RCV003473649; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 235455 | 235455 | | | 5:g.235455G>A | - | | |
NM_004168.4(SDHA):c.1260+2T>A | 6389 | SDHA | Likely pathogenic | 1735710103 | RCV001055477|RCV003238290; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 235456 | 235456 | | | 5:g.235456T>A | - | | |
NM_004168.4(SDHA):c.1260+3G>T | 6389 | SDHA | Uncertain significance | 2126585827 | RCV001371369; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235457 | 235457 | | | 235457 | - | | |
NM_004168.4(SDHA):c.1260+4A>G | 6389 | SDHA | Uncertain significance | 1060503702 | RCV000456569|RCV002429555; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 235458 | 235458 | | | NC_000005.9:g.235458A>G | ClinGen:CA16611960 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1260+6G>A | 6389 | SDHA | Uncertain significance | 2126585843 | RCV001982649; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235460 | 235460 | | | 235460 | - | | |
NM_004168.4(SDHA):c.1260+8T>A | 6389 | SDHA | Likely benign | 1325588204 | RCV000649474; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235462 | 235462 | | | NC_000005.9:g.235462T>A | ClinGen:CA557397594 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1260+8T>G | 6389 | SDHA | Likely benign | -1 | RCV002604008; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235462 | 235462 | | | NC_000005.9:g.235462T>G | - | | |
NM_004168.4(SDHA):c.1260+9G>T | 6389 | SDHA | Likely benign | 1060505003 | RCV000468116; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235463 | 235463 | | | NC_000005.9:g.235463G>T | ClinGen:CA16611884 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1260+10C>T | 6389 | SDHA | Likely benign | 1300688046 | RCV002167539; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235464 | 235464 | | | 235464 | - | | |
NM_004168.4(SDHA):c.1260+12G>A | 6389 | SDHA | Likely benign | -1 | RCV002592955; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235466 | 235466 | | | NC_000005.9:g.235466G>A | - | | |
NM_004168.4(SDHA):c.1260+13G>T | 6389 | SDHA | Benign/Likely benign | 185239026 | RCV000605596|RCV002066547; | N | MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235467 | 235467 | | | 5:g.235467G>T | ClinGen:CA3173150 | CN169374 not specified; | |
NM_004168.4(SDHA):c.1260+14C>T | 6389 | SDHA | Likely benign | 1237313111 | RCV002200675; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235468 | 235468 | | | 235468 | - | | |
NM_004168.4(SDHA):c.1260+15T>C | 6389 | SDHA | Likely benign | 778457213 | RCV002176777; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235469 | 235469 | | | 235469 | - | | |
NM_004168.4(SDHA):c.1260+16C>T | 6389 | SDHA | Likely benign | 2126585898 | RCV002168426; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235470 | 235470 | | | 235470 | - | | |
NM_004168.4(SDHA):c.1260+17C>G | 6389 | SDHA | Likely benign | 750384205 | RCV002116772; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 235471 | 235471 | | | 235471 | - | | |
NM_004168.4(SDHA):c.1260+17C>T | 6389 | SDHA | Likely benign | 750384205 | RCV002166528; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235471 | 235471 | | | 235471 | - | | |
NM_004168.4(SDHA):c.1260+18T>A | 6389 | SDHA | Likely benign | -1 | RCV003053226; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235472 | 235472 | | | NC_000005.9:g.235472T>A | - | | |
NM_004168.4(SDHA):c.1260+18T>C | 6389 | SDHA | Likely benign | -1 | RCV002863476; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235472 | 235472 | | | NC_000005.9:g.235472T>C | - | | |
NM_004168.4(SDHA):c.1260+23dup | 6389 | SDHA | Benign | -1 | RCV003031103; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235472 | 235473 | | | NC_000005.9:g.235477dup | - | | |
NM_004168.4(SDHA):c.1260+19C>T | 6389 | SDHA | Likely benign | 1735711604 | RCV002112501; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235473 | 235473 | | | 235473 | - | | |
NM_004168.4(SDHA):c.1260+20C>T | 6389 | SDHA | Likely benign | 779828602 | RCV002171169; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 235474 | 235474 | | | 235474 | - | | |
NM_004168.4(SDHA):c.1261-19G>T | 6389 | SDHA | Likely benign | -1 | RCV003038635; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236524 | 236524 | | | NC_000005.9:g.236524G>T | - | | |
NM_004168.4(SDHA):c.1261-17A>T | 6389 | SDHA | Likely benign | -1 | RCV002583541; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236526 | 236526 | | | NC_000005.9:g.236526A>T | - | | |
NM_004168.4(SDHA):c.1261-16A>T | 6389 | SDHA | Likely benign | 1170006255 | RCV002149782; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236527 | 236527 | | | 236527 | - | | |
NM_004168.4(SDHA):c.1261-11C>G | 6389 | SDHA | Likely benign | 2126589164 | RCV002168540; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236532 | 236532 | | | 236532 | - | | |
NM_004168.4(SDHA):c.1261-10C>G | 6389 | SDHA | Likely benign | 1579409244 | RCV001408277; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236533 | 236533 | | | 5:g.236533C>G | - | | |
NM_004168.4(SDHA):c.1261-10C>T | 6389 | SDHA | Likely benign | 1579409244 | RCV002198179; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236533 | 236533 | | | 236533 | - | | |
NM_004168.4(SDHA):c.1261-9T>A | 6389 | SDHA | Uncertain significance | 1553999698 | RCV000649452; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236534 | 236534 | | | NC_000005.9:g.236534T>A | ClinGen:CA658796488 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1261-9T>C | 6389 | SDHA | Likely benign | 1553999698 | RCV001399597; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236534 | 236534 | | | 236534 | - | | |
NM_004168.4(SDHA):c.1261-7T>A | 6389 | SDHA | Likely benign | 1423583851 | RCV001047440; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236536 | 236536 | | | 5:g.236536T>A | - | | |
NM_004168.4(SDHA):c.1261-7T>G | 6389 | SDHA | Likely benign | 1423583851 | RCV001359103; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236536 | 236536 | | | 236536 | - | | |
NM_004168.4(SDHA):c.1261-5C>A | 6389 | SDHA | Likely benign | 751471707 | RCV000649479; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236538 | 236538 | | | NC_000005.9:g.236538C>A | ClinGen:CA3173177 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1261-4A>T | 6389 | SDHA | Likely benign | 1553999703 | RCV000544427; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236539 | 236539 | | | NC_000005.9:g.236539A>T | ClinGen:CA658657410 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1261-4A>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553999703 | RCV001481591|RCV002439151; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236539 | 236539 | | | 236539 | - | | |
NM_004168.4(SDHA):c.1261-3C>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553999705 | RCV000649473|RCV002440351; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236540 | 236540 | | | 5:g.236540C>T | ClinGen:CA658796490 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1261-2A>G | 6389 | SDHA | Likely pathogenic | 1579409293 | RCV000822495|RCV003307557|RCV003453730; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236541 | 236541 | | | 5:g.236541A>G | - | | |
NM_004168.4(SDHA):c.1261-1G>A | 6389 | SDHA | Likely pathogenic | 1735779936 | RCV001205972; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236542 | 236542 | | | 5:g.236542G>A | - | | |
NM_004168.4(SDHA):c.1263C>T (p.Val421=) | 6389 | SDHA | Likely benign | 2126589252 | RCV002131230|RCV002443236; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236545 | 236545 | | | 236545 | - | | |
NM_004168.4(SDHA):c.1264C>T (p.Leu422=) | 6389 | SDHA | Likely benign | 1405485459 | RCV002131104|RCV002443235; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236546 | 236546 | | | 236546 | - | | |
NM_004168.4(SDHA):c.1271A>G (p.His424Arg) | 6389 | SDHA | Uncertain significance | 1579409312 | RCV001010658|RCV001860645; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236553 | 236553 | | | 5:g.236553A>G | - | | |
NM_004168.4(SDHA):c.1272C>G (p.His424Gln) | 6389 | SDHA | Uncertain significance | 754805626 | RCV000477192|RCV000521376|RCV001010677; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236554 | 236554 | | | NC_000005.9:g.236554C>G | ClinGen:CA3173178 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1272C>T (p.His424=) | 6389 | SDHA | Likely benign | 754805626 | RCV000556683|RCV000561553; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236554 | 236554 | | | 5:g.236554C>T | ClinGen:CA3173179 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) | 6389 | SDHA | Uncertain significance | 201822097 | RCV000231334|RCV000569607|RCV000663187|RCV001753700|RCV002503907|RCV003475066; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 236555 | 236555 | | | 5:g.236555G>A | ClinGen:CA3173181 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu) | 6389 | SDHA | Uncertain significance | 201822097 | RCV000532863|RCV000573766; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236555 | 236555 | | | NC_000005.9:g.236555G>T | ClinGen:CA3173180 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1276A>C (p.Asn426His) | 6389 | SDHA | Uncertain significance | 1735781689 | RCV001901493; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236558 | 236558 | | | 236558 | - | | |
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser) | 6389 | SDHA | Uncertain significance | 1060503725 | RCV000463371; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236559 | 236559 | | | NC_000005.9:g.236559A>G | ClinGen:CA16611963 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1278T>C (p.Asn426=) | 6389 | SDHA | Likely benign | 2126589395 | RCV002089352; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236560 | 236560 | | | 236560 | - | | |
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val) | 6389 | SDHA | Uncertain significance | 1735782215 | RCV001203852; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236562 | 236562 | | | 5:g.236562G>T | - | | |
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs) | 6389 | SDHA | Pathogenic | -1 | RCV002289321|RCV003097776|RCV003340474|RCV003475330; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 236562 | 236577 | | | 236561 | - | | |
NM_004168.4(SDHA):c.1281C>T (p.Gly427=) | 6389 | SDHA | Likely benign | 561918468 | RCV000570135|RCV000792107; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236563 | 236563 | | | NC_000005.9:g.236563C>T | ClinGen:CA3173182 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1284G>C (p.Gln428His) | 6389 | SDHA | Uncertain significance | 1735782951 | RCV001961029; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236566 | 236566 | | | 236566 | - | | |
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn) | 6389 | SDHA | Uncertain significance | 988419580 | RCV001866324|RCV003289124; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236567 | 236567 | | | 236567 | - | | |
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu) | 6389 | SDHA | Uncertain significance | -1 | RCV002846176; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236569 | 236569 | | | NC_000005.9:g.236569T>G | - | | |
NM_004168.4(SDHA):c.1290G>A (p.Gln430=) | 6389 | SDHA | Likely benign | 772728779 | RCV000545202|RCV002384220; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236572 | 236572 | | | 5:g.236572G>A | ClinGen:CA442692072 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1579409384 | RCV000796031|RCV003307439; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236573 | 236573 | | | 5:g.236573A>G | - | | |
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) | 6389 | SDHA | Uncertain significance | 776188923 | RCV000461342|RCV002383838; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236574 | 236574 | | | NC_000005.9:g.236574T>C | ClinGen:CA3173184 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1294G>A (p.Val432Met) | 6389 | SDHA | Uncertain significance | 2126589526 | RCV001362125; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236576 | 236576 | | | 236576 | - | | |
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala) | 6389 | SDHA | Uncertain significance | 1490844767 | RCV001372668|RCV002384540; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236577 | 236577 | | | 236577 | - | | |
NM_004168.4(SDHA):c.1296G>T (p.Val432=) | 6389 | SDHA | Likely benign | 1223308548 | RCV002198178; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236578 | 236578 | | | 236578 | - | | |
NM_004168.4(SDHA):c.1296G>A (p.Val432=) | 6389 | SDHA | Likely benign | -1 | RCV003095824; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236578 | 236578 | | | | - | | |
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser) | 6389 | SDHA | Uncertain significance | 1560998056 | RCV000687479; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236579 | 236579 | | | 5:g.236579C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu) | 6389 | SDHA | Uncertain significance | 747488969 | RCV000649415|RCV002386095; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236580 | 236580 | | | NC_000005.9:g.236580C>T | ClinGen:CA3173185 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1299C>T (p.Pro433=) | 6389 | SDHA | Likely benign | 144473374 | RCV000233072|RCV000566607; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236581 | 236581 | | | NC_000005.9:g.236581C>T | ClinGen:CA3173186 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser) | 6389 | SDHA | Uncertain significance | 529198317 | RCV000557736|RCV001010859|RCV003327419; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 236582 | 236582 | | | 5:g.236582G>A | ClinGen:CA3173187 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg) | 6389 | SDHA | Uncertain significance | 529198317 | RCV001878075; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236582 | 236582 | | | 236582 | - | | |
NM_004168.4(SDHA):c.1302C>T (p.Gly434=) | 6389 | SDHA | Likely benign | 1579409486 | RCV001211773; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236584 | 236584 | | | 5:g.236584C>T | - | | |
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln) | 6389 | SDHA | Uncertain significance | 1579409500 | RCV001010873|RCV002549330; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236586 | 236586 | | | 5:g.236586T>A | - | | |
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) | 6389 | SDHA | Uncertain significance | 1579409500 | RCV001957990|RCV002386771; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236586 | 236586 | | | 236586 | - | | |
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro) | 6389 | SDHA | Uncertain significance | 1579409500 | RCV001895333; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236586 | 236586 | | | 236586 | - | | |
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 35964044 | RCV000210529|RCV000291485|RCV000346462|RCV000376037|RCV000242588|RCV000565630|RCV003114371|RCV003316166; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO | 5 | 236587 | 236587 | | | NC_000005.9:g.236587G>T | ClinGen:CA358583 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1305G>C (p.Leu435=) | 6389 | SDHA | Likely benign | 35964044 | RCV000533635|RCV002384221; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236587 | 236587 | | | NC_000005.9:g.236587G>C | ClinGen:CA442692084 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1305G>A (p.Leu435=) | 6389 | SDHA | Likely benign | 35964044 | RCV001010877|RCV001410811; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236587 | 236587 | | | 5:g.236587G>A | - | | |
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His) | 6389 | SDHA | Uncertain significance | 772729820 | RCV001206499|RCV002379782; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236588 | 236588 | | | 5:g.236588T>C | - | | |
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup) | 6389 | SDHA | Uncertain significance | 768469627 | RCV000570645|RCV001858148; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236589 | 236590 | | | 5:g.236589_236590insCGCCTGTGGGGAGGC | ClinGen:CA658657411 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=) | 6389 | SDHA | Likely benign | 762494024 | RCV000550792|RCV001010906|RCV003316718; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236590 | 236590 | | | NC_000005.9:g.236590C>T | ClinGen:CA3173191 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr) | 6389 | SDHA | Uncertain significance | 1553999731 | RCV000649418|RCV002386096; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236591 | 236591 | | | 5:g.236591G>A | ClinGen:CA359013896 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1311C>T (p.Ala437=) | 6389 | SDHA | Likely benign | 377506772 | RCV000563511|RCV000649480; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236593 | 236593 | | | 5:g.236593C>T | ClinGen:CA3173192 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) | 6389 | SDHA | Uncertain significance | 1424809160 | RCV000649397|RCV002386094; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236595 | 236595 | | | 5:g.236595G>T | ClinGen:CA359013907 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser) | 6389 | SDHA | Uncertain significance | 1424809160 | RCV001295683|RCV002379989; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236595 | 236595 | | | 236595 | - | | |
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg) | 6389 | SDHA | Uncertain significance | 1579409601 | RCV001201712; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236597 | 236597 | | | 5:g.236597G>A | - | | |
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu) | 6389 | SDHA | Uncertain significance | 374086655 | RCV001224984|RCV003380908; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236598 | 236598 | | | 5:g.236598G>A | - | | |
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys) | 6389 | SDHA | Uncertain significance | 1735789566 | RCV001956896|RCV002386828; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236600 | 236600 | | | 236600 | - | | |
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly) | 6389 | SDHA | Uncertain significance | 1735789704 | RCV001236035; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236601 | 236601 | | | 5:g.236601A>G | - | | |
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val) | 6389 | SDHA | Uncertain significance | 1735789704 | RCV001321130; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236601 | 236601 | | | 236601 | - | | |
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002302872; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236601 | 236601 | | | 236601 | - | | |
NM_004168.4(SDHA):c.1320G>A (p.Glu440=) | 6389 | SDHA | Likely benign | 2126589773 | RCV001446278|RCV002384689; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236602 | 236602 | | | 236602 | - | | |
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp) | 6389 | SDHA | Uncertain significance | -1 | RCV003043996; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236602 | 236602 | | | NC_000005.9:g.236602G>C | - | | |
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV002302051; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236603 | 236603 | | | 236603 | - | | |
NM_004168.4(SDHA):c.1323C>T (p.Ala441=) | 6389 | SDHA | Likely benign | 751561561 | RCV000574438|RCV000878525|RCV003316747; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236605 | 236605 | | | NC_000005.9:g.236605C>T | ClinGen:CA3173193 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1323C>G (p.Ala441=) | 6389 | SDHA | Likely benign | 751561561 | RCV001464722; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236605 | 236605 | | | 236605 | - | | |
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) | 6389 | SDHA | Uncertain significance | 754893758 | RCV000649436|RCV001011018|RCV002507115; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 236606 | 236606 | | | NC_000005.9:g.236606G>A | ClinGen:CA3173194 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser) | 6389 | SDHA | Uncertain significance | 754893758 | RCV001971299; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236606 | 236606 | | | 236606 | - | | |
NM_004168.4(SDHA):c.1326C>T (p.Ala442=) | 6389 | SDHA | Likely benign | 2126589832 | RCV001438344|RCV002384665; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236608 | 236608 | | | 236608 | - | | |
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg) | 6389 | SDHA | Uncertain significance | 2126589848 | RCV001990756; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236609 | 236609 | | | 236609 | - | | |
NM_004168.4(SDHA):c.1329T>C (p.Cys443=) | 6389 | SDHA | Likely benign | 2126589870 | RCV001457888|RCV002384720; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236611 | 236611 | | | 236611 | - | | |
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe) | 6389 | SDHA | Uncertain significance | 1735790227 | RCV001327910; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236612 | 236613 | | | 236612 | - | | |
NM_004168.4(SDHA):c.1332C>G (p.Ala444=) | 6389 | SDHA | Likely benign | 1060505011 | RCV000466826|RCV001011097; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236614 | 236614 | | | NC_000005.9:g.236614C>G | ClinGen:CA16611968 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1296066077 | RCV000559654|RCV001011108|RCV003237919|RCV003476307; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 236616 | 236616 | | | 5:g.236616C>T | ClinGen:CA359013953 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1335G>T (p.Ser445=) | 6389 | SDHA | Likely benign | 200223188 | RCV000465382|RCV001010829|RCV003437226; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 236617 | 236617 | | | NC_000005.9:g.236617G>T | ClinGen:CA3173195 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1335G>A (p.Ser445=) | 6389 | SDHA | Likely benign | 200223188 | RCV000703828|RCV001010827; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236617 | 236617 | | | 5:g.236617G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002705297; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236618 | 236618 | | | NC_000005.9:g.236618G>A | - | | |
NM_004168.4(SDHA):c.1338del (p.His447fs) | 6389 | SDHA | Pathogenic | 1735791499 | RCV001093471|RCV001211082|RCV003336306; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236620 | 236620 | | | 5:g.236620_236620del | - | | |
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr) | 6389 | SDHA | Uncertain significance | 2126589966 | RCV001914544; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236621 | 236621 | | | 236621 | - | | |
NM_004168.4(SDHA):c.1340A>G (p.His447Arg) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 779151375 | RCV000649422|RCV000770776|RCV001552485|RCV003472043; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 236622 | 236622 | | | 5:g.236622A>G | ClinGen:CA3173198 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1340A>C (p.His447Pro) | 6389 | SDHA | Uncertain significance | 779151375 | RCV001350157; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236622 | 236622 | | | 236622 | - | | |
NM_004168.4(SDHA):c.1341T>C (p.His447=) | 6389 | SDHA | Likely benign | 2126589989 | RCV001493357|RCV002384814; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236623 | 236623 | | | 236623 | - | | |
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser) | 6389 | SDHA | Uncertain significance | 1064795863 | RCV000483463|RCV001851236; | N | MedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236624 | 236624 | | | NC_000005.9:g.236624G>A | ClinGen:CA16618196 | | |
NM_004168.4(SDHA):c.1344T>C (p.Gly448=) | 6389 | SDHA | Benign/Likely benign | 551497992 | RCV000467921|RCV000571567; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236626 | 236626 | | | NC_000005.9:g.236626T>C | ClinGen:CA3173200 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr) | 6389 | SDHA | Uncertain significance | 1485193902 | RCV001344676; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236627 | 236627 | | | 236627 | - | | |
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV002387815|RCV003095007; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236627 | 236627 | | | 236627 | - | | |
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly) | 6389 | SDHA | Uncertain significance | 201139275 | RCV000575726|RCV000535887; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236628 | 236628 | | | 5:g.236628C>G | ClinGen:CA359013974 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser) | 6389 | SDHA | Uncertain significance | 1579409723 | RCV000819929|RCV002381857|RCV003473505; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 236631 | 236631 | | | 5:g.236631A>G | - | | |
NM_004168.4(SDHA):c.1350C>T (p.Asn450=) | 6389 | SDHA | Likely benign | 533902090 | RCV000565044|RCV000649477; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236632 | 236632 | | | NC_000005.9:g.236632C>T | ClinGen:CA3173202 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553999752 | RCV000521022|RCV001063769|RCV001363197|RCV001799673|RCV002384004|RCV003152716; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D04 | 5 | 236633 | 236633 | | | NC_000005.9:g.236633C>T | ClinGen:CA359013985,OMIM:600857.0011 | | |
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1553999752 | RCV001265565|RCV001244671|RCV002379936; | N | |MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236633 | 236633 | | | 5:g.236633C>A | - | | |
NM_004168.4(SDHA):c.1352G>A (p.Arg451His) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 370690436 | RCV000705227|RCV001594402|RCV002256488|RCV002536395; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Me | 5 | 236634 | 236634 | | | 5:g.236634G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1353C>G (p.Arg451=) | 6389 | SDHA | Likely benign | 555342133 | RCV000566165|RCV000649481; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236635 | 236635 | | | 5:g.236635C>G | ClinGen:CA3173204 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe) | 6389 | SDHA | Uncertain significance | 1064796477 | RCV000479013|RCV000569661|RCV000793091; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236636 | 236636 | | | NC_000005.9:g.236636C>T | ClinGen:CA16618197 | | |
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro) | 6389 | SDHA | Uncertain significance | 1735794275 | RCV001321882; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236637 | 236637 | | | 236637 | - | | |
NM_004168.4(SDHA):c.1356C>T (p.Leu452=) | 6389 | SDHA | Likely benign | 748496836 | RCV000420514|RCV000464405|RCV000567112; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236638 | 236638 | | | 5:g.236638C>T | ClinGen:CA3173205 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg) | 6389 | SDHA | Uncertain significance | 770028533 | RCV000548237|RCV001011154|RCV003476308; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 236639 | 236639 | | | NC_000005.9:g.236639G>A | ClinGen:CA3173206 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu) | 6389 | SDHA | Uncertain significance | 1169286790 | RCV000793933; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236640 | 236640 | | | 5:g.236640G>A | - | | |
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser) | 6389 | SDHA | Uncertain significance | 1057517550 | RCV000704760; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236642 | 236642 | | | NC_000005.9:g.236642G>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) | 6389 | SDHA | Uncertain significance | 1553999766 | RCV000528914|RCV002384222; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236643 | 236643 | | | NC_000005.9:g.236643C>A | ClinGen:CA359014000 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1365C>T (p.Asn455=) | 6389 | SDHA | Likely benign | 1579409853 | RCV001011058|RCV002068835; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236647 | 236647 | | | 5:g.236647C>T | - | | |
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala) | 6389 | SDHA | Uncertain significance | -1 | RCV002671393; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236648 | 236648 | | | NC_000005.9:g.236648T>G | - | | |
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 76896145 | RCV000649467|RCV001354634|RCV002386098; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236649 | 236649 | | | 5:g.236649C>T | ClinGen:CA3173208 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 149875171 | RCV000210523|RCV000247565|RCV000570838|RCV001080809|RCV001157831|RCV001157832|RCV001157833|RCV003316163; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C002 | 5 | 236650 | 236650 | | | NC_000005.9:g.236650G>A | ClinGen:CA358579 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1370T>A (p.Leu457His) | 6389 | SDHA | Uncertain significance | 1579409887 | RCV001011188|RCV002298821|RCV003473566; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 236652 | 236652 | | | 5:g.236652T>A | - | | |
NM_004168.4(SDHA):c.1371C>A (p.Leu457=) | 6389 | SDHA | Benign/Likely benign | 75091805 | RCV001512875|RCV002258297; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236653 | 236653 | | | 236653 | - | | |
NM_004168.4(SDHA):c.1371C>G (p.Leu457=) | 6389 | SDHA | Likely benign | 75091805 | RCV002142112; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236653 | 236653 | | | 236653 | - | | |
NM_004168.4(SDHA):c.1374G>A (p.Leu458=) | 6389 | SDHA | Uncertain significance | 1735797053 | RCV001060517; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236656 | 236656 | | | 5:g.236656G>A | - | | |
NM_004168.4(SDHA):c.1375G>C (p.Asp459His) | 6389 | SDHA | Uncertain significance | 1735797208 | RCV001042958|RCV002256652; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236657 | 236657 | | | 5:g.236657G>C | - | | |
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly) | 6389 | SDHA | Uncertain significance | 2126590273 | RCV001364342; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236658 | 236658 | | | 236658 | - | | |
NM_004168.4(SDHA):c.1377C>T (p.Asp459=) | 6389 | SDHA | Likely benign | 1579409909 | RCV000924630|RCV003307696; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236659 | 236659 | | | 5:g.236659C>T | - | | |
NM_004168.4(SDHA):c.1378C>T (p.Leu460=) | 6389 | SDHA | Likely benign | 760686493 | RCV000541221|RCV000573583|RCV002476187; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 236660 | 236660 | | | NC_000005.9:g.236660C>T | ClinGen:CA3173210 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1380G>A (p.Leu460=) | 6389 | SDHA | Likely benign | -1 | RCV003046708; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236662 | 236662 | | | | - | | |
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe) | 6389 | SDHA | Uncertain significance | 373021394 | RCV001011289|RCV001223002; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236663 | 236663 | | | 5:g.236663G>T | - | | |
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala) | 6389 | SDHA | Uncertain significance | 767452676 | RCV000649421|RCV002386097; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236664 | 236664 | | | 5:g.236664T>C | ClinGen:CA3173211 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu) | 6389 | SDHA | Uncertain significance | -1 | RCV002843615; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236669 | 236669 | | | NC_000005.9:g.236669T>C | - | | |
NM_004168.4(SDHA):c.1389T>C (p.Phe463=) | 6389 | SDHA | Likely benign | 2126590369 | RCV001395196; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236671 | 236671 | | | 236671 | - | | |
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser) | 6389 | SDHA | Uncertain significance | 2126590387 | RCV001993894; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236672 | 236672 | | | 236672 | - | | |
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002838852; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236672 | 236672 | | | NC_000005.9:g.236672G>C | - | | |
NM_004168.4(SDHA):c.1392T>G (p.Gly464=) | 6389 | SDHA | Likely benign | 1579409940 | RCV001417559; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236674 | 236674 | | | 5:g.236674T>G | - | | |
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp) | 6389 | SDHA | Uncertain significance | 752461029 | RCV000227745|RCV001011310|RCV003475067; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 236675 | 236675 | | | NC_000005.9:g.236675C>T | ClinGen:CA3173212 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1393C>A (p.Arg465=) | 6389 | SDHA | Likely benign | 752461029 | RCV001220483; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236675 | 236675 | | | 5:g.236675C>A | - | | |
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 138277996 | RCV000865554|RCV001011316|RCV001547986; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 236676 | 236676 | | | 5:g.236676G>A | - | | |
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser) | 6389 | SDHA | Uncertain significance | 111387770 | RCV000525154; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236678 | 236678 | | | 5:g.236678G>T | ClinGen:CA359014067 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 111387770 | RCV000549321|RCV000574670|RCV001528282|RCV001572933; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900 | 5 | 236678 | 236678 | | | NC_000005.9:g.236678G>A | ClinGen:CA3173214 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1397dup (p.Cys467fs) | 6389 | SDHA | Pathogenic | 1735798915 | RCV001061275; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236678 | 236679 | | | 5:g.236678_236679insC | - | | |
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV002295188; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236678 | 236678 | | | 236678 | - | | |
NM_004168.4(SDHA):c.1398A>G (p.Ala466=) | 6389 | SDHA | Likely benign | 878854626 | RCV001458162|RCV002392697; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236680 | 236680 | | | 5:g.236680A>G | ClinGen:CA10582428 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1398A>C (p.Ala466=) | 6389 | SDHA | Likely benign | 878854626 | RCV001465001; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236680 | 236680 | | | 5:g.236680A>C | - | | |
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val) | 6389 | SDHA | Uncertain significance | 1057524636 | RCV001364058; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236685 | 236685 | | | 236685 | - | | |
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg) | 6389 | SDHA | Uncertain significance | 1735799664 | RCV001295152; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236690 | 236690 | | | 236690 | - | | |
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn) | 6389 | SDHA | Uncertain significance | 1241820374 | RCV000812060|RCV001011430; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236691 | 236691 | | | 5:g.236691G>A | - | | |
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002296840; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236691 | 236691 | | | 236691 | - | | |
NM_004168.4(SDHA):c.1410C>T (p.Ser470=) | 6389 | SDHA | Likely benign | 556476038 | RCV000542300|RCV001011405|RCV003316719; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236692 | 236692 | | | 5:g.236692C>T | ClinGen:CA3173215 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val) | 6389 | SDHA | Uncertain significance | 1735800203 | RCV001230166; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236693 | 236693 | | | 5:g.236693A>G | - | | |
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 34779890 | RCV000210520|RCV000437200|RCV000562445|RCV001157834|RCV001152356|RCV001152357|RCV001579483|RCV003316168; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011 | 5 | 236695 | 236695 | | | NC_000005.9:g.236695C>T | ClinGen:CA358577 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met) | 6389 | SDHA | Uncertain significance | 34779890 | RCV001039572; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236695 | 236695 | | | 5:g.236695C>G | - | | |
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 143798161 | RCV000409873|RCV000569994|RCV000806481; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236696 | 236696 | | | NC_000005.9:g.236696G>A | ClinGen:CA3173216 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter) | 6389 | SDHA | Pathogenic | -1 | RCV002391669|RCV003095123; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236696 | 236696 | | | 236696 | - | | |
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln) | 6389 | SDHA | Uncertain significance | 2126590644 | RCV001900975; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236699 | 236699 | | | 236699 | - | | |
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala) | 6389 | SDHA | Uncertain significance | 1560998495 | RCV000698751|RCV003352990; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236700 | 236700 | | | 5:g.236700A>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1419G>A (p.Glu473=) | 6389 | SDHA | Likely benign | 898003329 | RCV000465651|RCV000575876; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236701 | 236701 | | | NC_000005.9:g.236701G>A | ClinGen:CA16611971 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro) | 6389 | SDHA | Uncertain significance | 2126590674 | RCV001978486; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236702 | 236702 | | | 236702 | - | | |
NM_004168.4(SDHA):c.1422A>G (p.Ser474=) | 6389 | SDHA | Likely benign | 201868424 | RCV000553507; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236704 | 236704 | | | NC_000005.9:g.236704A>G | ClinGen:CA3173218 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) | 6389 | SDHA | Uncertain significance | 781747137 | RCV000234575|RCV000663132|RCV002392698|RCV003475068; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 236705 | 236705 | | | 5:g.236705T>C | ClinGen:CA3173219 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser) | 6389 | SDHA | Uncertain significance | 748567636 | RCV000649405|RCV003303064|RCV003432690; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 236706 | 236706 | | | 5:g.236706G>C | ClinGen:CA3173221 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr) | 6389 | SDHA | Uncertain significance | 748567636 | RCV001011482|RCV001235217; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236706 | 236706 | | | 5:g.236706G>A | - | | |
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys) | 6389 | SDHA | Uncertain significance | 2126590736 | RCV001932270; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236709 | 236709 | | | 236709 | - | | |
NM_004168.4(SDHA):c.1428G>A (p.Arg476=) | 6389 | SDHA | Likely benign | 377415114 | RCV000529616|RCV001011491; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236710 | 236710 | | | NC_000005.9:g.236710G>A | ClinGen:CA3173222 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser) | 6389 | SDHA | Uncertain significance | 377415114 | RCV000541924|RCV002395443|RCV003319375; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 236710 | 236710 | | | 5:g.236710G>T | ClinGen:CA3173223 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser) | 6389 | SDHA | Uncertain significance | 377415114 | RCV001070472|RCV002393339; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236710 | 236710 | | | 5:g.236710G>C | - | | |
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) | 6389 | SDHA | Uncertain significance | 770506764 | RCV000468284|RCV001011494|RCV002481479|RCV003237875; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 236711 | 236711 | | | NC_000005.9:g.236711C>T | ClinGen:CA3173224 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1430C>A (p.Pro477His) | 6389 | SDHA | Uncertain significance | 146990772 | RCV000649419; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236712 | 236712 | | | 5:g.236712C>A | ClinGen:CA359014138 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu) | 6389 | SDHA | Uncertain significance | 146990772 | RCV000696212|RCV000998346|RCV002388266; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236712 | 236712 | | | 5:g.236712C>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1432_1432+1del | 6389 | SDHA | Pathogenic/Likely pathogenic | 878854627 | RCV000228421|RCV000567345|RCV001253762|RCV002508205|RCV002500781|RCV003475069; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002668,Human Phenotype Ontology:HP | 5 | 236714 | 236715 | | | 5:g.236714_236715del | ClinGen:CA10582429 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1432+1G>C | 6389 | SDHA | Likely pathogenic | 878854628 | RCV000230417|RCV001329182; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236715 | 236715 | | | 5:g.236715G>C | ClinGen:CA10582430 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1432+1G>T | 6389 | SDHA | Likely pathogenic | 878854628 | RCV002037154; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236715 | 236715 | | | 236715 | - | | |
NM_004168.4(SDHA):c.1432+4A>G | 6389 | SDHA | Uncertain significance | 1553999798 | RCV000649399|RCV002388130; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 236718 | 236718 | | | 5:g.236718A>G | ClinGen:CA658796491 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1432+7G>C | 6389 | SDHA | Likely benign | 760526397 | RCV000234401|RCV000662744|RCV001800594; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN517202 | 5 | 236721 | 236721 | | | NC_000005.9:g.236721G>C | ClinGen:CA3173229 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1432+7G>T | 6389 | SDHA | Likely benign | 760526397 | RCV001475830; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236721 | 236721 | | | 236721 | - | | |
NM_004168.4(SDHA):c.1432+7G>A | 6389 | SDHA | Likely benign | 760526397 | RCV002135293; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236721 | 236721 | | | 236721 | - | | |
NM_004168.4(SDHA):c.1432+9_1432+11del | 6389 | SDHA | Likely benign | 2126590852 | RCV002116679; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236722 | 236724 | | | 236721 | - | | |
NM_004168.4(SDHA):c.1432+9T>G | 6389 | SDHA | Likely benign | 1735803426 | RCV002082719; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236723 | 236723 | | | 236723 | - | | |
NM_004168.4(SDHA):c.1432+10T>C | 6389 | SDHA | Likely benign | -1 | RCV002863823; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236724 | 236724 | | | NC_000005.9:g.236724T>C | - | | |
NM_004168.4(SDHA):c.1432+12C>T | 6389 | SDHA | Likely benign | 377104463 | RCV002165760; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236726 | 236726 | | | 236726 | - | | |
NM_004168.4(SDHA):c.1432+15C>T | 6389 | SDHA | Likely benign | 2126590874 | RCV002201621; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236729 | 236729 | | | 236729 | - | | |
NM_004168.4(SDHA):c.1432+16A>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 753631065 | RCV000409517|RCV002058840; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 236730 | 236730 | | | 5:g.236730A>G | ClinGen:CA3173231 | C3279992 614165 Paragangliomas 5; | |
NM_004168.4(SDHA):c.1432+18G>C | 6389 | SDHA | Likely benign | 763298397 | RCV002170141; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236732 | 236732 | | | 236732 | - | | |
NM_004168.4(SDHA):c.1432+20G>C | 6389 | SDHA | Benign/Likely benign | 200127852 | RCV000663191|RCV002060801; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 236734 | 236734 | | | 5:g.236734G>C | - | C3279992 614165 Paragangliomas 5; | |
NM_004168.4(SDHA):c.1433-19T>C | 6389 | SDHA | Likely benign | 2126602340 | RCV002213576; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240454 | 240454 | | | 240454 | - | | |
NM_004168.4(SDHA):c.1433-18A>G | 6389 | SDHA | Likely benign | -1 | RCV002904201; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240455 | 240455 | | | NC_000005.9:g.240455A>G | - | | |
NM_004168.4(SDHA):c.1433-8dup | 6389 | SDHA | Benign | 769594966 | RCV002136909; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240457 | 240458 | | | 240457 | - | | |
NM_004168.4(SDHA):c.1433-16C>G | 6389 | SDHA | Likely benign | -1 | RCV002894775; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240457 | 240457 | | | NC_000005.9:g.240457C>G | - | | |
NM_004168.4(SDHA):c.1433-8del | 6389 | SDHA | Benign | -1 | RCV003082251; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240458 | 240458 | | | NC_000005.9:g.240465del | - | | |
NM_004168.4(SDHA):c.1433-15T>A | 6389 | SDHA | Likely benign | -1 | RCV003054675; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240458 | 240458 | | | NC_000005.9:g.240458T>A | - | | |
NM_004168.4(SDHA):c.1433-14T>C | 6389 | SDHA | Likely benign | 2126602367 | RCV002185104; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240459 | 240459 | | | 240459 | - | | |
NM_004168.4(SDHA):c.1433-14T>G | 6389 | SDHA | Likely benign | 2126602367 | RCV002175598; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240459 | 240459 | | | 240459 | - | | |
NM_004168.4(SDHA):c.1433-14T>A | 6389 | SDHA | Likely benign | 2126602367 | RCV002145985; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240459 | 240459 | | | 240459 | - | | |
NM_004168.4(SDHA):c.1433-11T>G | 6389 | SDHA | Likely benign | 1194122879 | RCV002172332; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240462 | 240462 | | | 240462 | - | | |
NM_004168.4(SDHA):c.1433-10T>C | 6389 | SDHA | Likely benign | 1214392431 | RCV000945795; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240463 | 240463 | | | 5:g.240463T>C | - | | |
NM_004168.4(SDHA):c.1433-9T>C | 6389 | SDHA | Likely benign | 1579417426 | RCV001419853; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240464 | 240464 | | | 5:g.240464T>C | - | | |
NM_004168.4(SDHA):c.1433-8T>G | 6389 | SDHA | Likely benign | 2126602401 | RCV002207740; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240465 | 240465 | | | 240465 | - | | |
NM_004168.4(SDHA):c.1433-7G>A | 6389 | SDHA | Likely benign | -1 | RCV003080398; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240466 | 240466 | | | NC_000005.9:g.240466G>A | - | | |
NM_004168.4(SDHA):c.1433-3del | 6389 | SDHA | Benign | 2126602411 | RCV001518617; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240467 | 240467 | | | 240466 | - | | |
NM_004168.4(SDHA):c.1433-5T>A | 6389 | SDHA | Likely benign | 2126602416 | RCV002004228; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240468 | 240468 | | | 240468 | - | | |
NM_004168.4(SDHA):c.1433-4T>G | 6389 | SDHA | Likely benign | 2126602419 | RCV001418129; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240469 | 240469 | | | 240469 | - | | |
NM_004168.4(SDHA):c.1433-3T>C | 6389 | SDHA | Uncertain significance | 1736060812 | RCV001208443; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240470 | 240470 | | | 5:g.240470T>C | - | | |
NM_004168.4(SDHA):c.1433-2A>G | 6389 | SDHA | Likely pathogenic | -1 | RCV002851247; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240471 | 240471 | | | NC_000005.9:g.240471A>G | - | | |
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs) | 6389 | SDHA | Pathogenic | -1 | RCV003035160; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240476 | 240477 | | | NC_000005.9:g.240477_240478insGT | - | | |
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu) | 6389 | SDHA | Uncertain significance | 1579417444 | RCV001011574|RCV001247825; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240478 | 240478 | | | 5:g.240478A>G | - | | |
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly) | 6389 | SDHA | Uncertain significance | 1736061170 | RCV001959617; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240482 | 240482 | | | 240482 | - | | |
NM_004168.4(SDHA):c.1443C>A (p.Val481=) | 6389 | SDHA | Likely benign | 751871185 | RCV000649466|RCV003303066; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240483 | 240483 | | | 5:g.240483C>A | ClinGen:CA442692193 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1443C>T (p.Val481=) | 6389 | SDHA | Likely benign | 751871185 | RCV002182582; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240483 | 240483 | | | 240483 | - | | |
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu) | 6389 | SDHA | Uncertain significance | 759661610 | RCV001011619|RCV001860674; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240485 | 240485 | | | 5:g.240485C>T | - | | |
NM_004168.4(SDHA):c.1445C>A (p.Pro482His) | 6389 | SDHA | Uncertain significance | 759661610 | RCV001220887; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240485 | 240485 | | | 5:g.240485C>A | - | | |
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg) | 6389 | SDHA | Uncertain significance | 759661610 | RCV002010926; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240485 | 240485 | | | 240485 | - | | |
NM_004168.4(SDHA):c.1446T>G (p.Pro482=) | 6389 | SDHA | Likely benign | 767646499 | RCV001493756|RCV002388523; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240486 | 240486 | | | 240486 | - | | |
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu) | 6389 | SDHA | Uncertain significance | 2126602519 | RCV001890957; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240488 | 240488 | | | 240488 | - | | |
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val) | 6389 | SDHA | Uncertain significance | 1224049828 | RCV000554522|RCV002395444; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240490 | 240490 | | | NC_000005.9:g.240490A>G | ClinGen:CA359014191 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1452T>C (p.Ile484=) | 6389 | SDHA | Likely benign | -1 | RCV002394648|RCV003095185; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240492 | 240492 | | | | - | | |
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu) | 6389 | SDHA | Uncertain significance | 1736062209 | RCV001347124|RCV002395765; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240493 | 240493 | | | 240493 | - | | |
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln) | 6389 | SDHA | Uncertain significance | -1 | RCV002647631; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240493 | 240493 | | | NC_000005.9:g.240493A>C | - | | |
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1060503706 | RCV000462164|RCV002256273; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240496 | 240496 | | | NC_000005.9:g.240496C>A | ClinGen:CA16611887 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser) | 6389 | SDHA | Uncertain significance | 1060503706 | RCV000530424; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240496 | 240496 | | | 5:g.240496C>T | ClinGen:CA359014205 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu) | 6389 | SDHA | Uncertain significance | 1579417528 | RCV001011674|RCV001860678; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240497 | 240497 | | | 5:g.240497C>T | - | | |
NM_004168.4(SDHA):c.1458A>G (p.Pro486=) | 6389 | SDHA | Likely benign | 2126602561 | RCV001498115; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240498 | 240498 | | | 240498 | - | | |
NM_004168.4(SDHA):c.1459A>C (p.Asn487His) | 6389 | SDHA | Uncertain significance | 1208182306 | RCV001983493|RCV002388998; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240499 | 240499 | | | 240499 | - | | |
NM_004168.4(SDHA):c.1461C>T (p.Asn487=) | 6389 | SDHA | Likely benign | 187540602 | RCV000462565|RCV000568309|RCV003431042; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 240501 | 240501 | | | NC_000005.9:g.240501C>T | ClinGen:CA3173258 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002624452; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240501 | 240501 | | | NC_000005.9:g.240501C>A | - | | |
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) | 6389 | SDHA | Uncertain significance | 369100772 | RCV000468600|RCV000562914|RCV000714731|RCV000714730|RCV002481484|RCV003476133; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M | 5 | 240502 | 240502 | | | NC_000005.9:g.240502G>A | ClinGen:CA3173259 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser) | 6389 | SDHA | Uncertain significance | 369100772 | RCV001205294|RCV002393462; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240502 | 240502 | | | 5:g.240502G>T | - | | |
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val) | 6389 | SDHA | Uncertain significance | 1421325038 | RCV001059668; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240503 | 240503 | | | 5:g.240503C>T | - | | |
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg) | 6389 | SDHA | Uncertain significance | 2126602614 | RCV001899234; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240505 | 240505 | | | 240505 | - | | |
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del) | 6389 | SDHA | Uncertain significance | -1 | RCV003046834; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240505 | 240507 | | | NC_000005.9:g.240506_240508del | - | | |
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1554000360 | RCV000538564|RCV001523818|RCV002256388|RCV003317276|RCV003476302; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 240508 | 240508 | | | 5:g.240508G>T | ClinGen:CA359014231 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs) | 6389 | SDHA | Pathogenic | 2126602655 | RCV001969975; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240508 | 240509 | | | 240508 | - | | |
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 778207102 | RCV000555437|RCV000566587|RCV000779471|RCV001093472|RCV003409811|RCV003476303; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MedGen:C3661900||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136 | 5 | 240511 | 240511 | | | NC_000005.9:g.240511G>T | ClinGen:CA3173260 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys) | 6389 | SDHA | Uncertain significance | 778207102 | RCV001224646; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240511 | 240511 | | | 5:g.240511G>A | - | | |
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala) | 6389 | SDHA | Uncertain significance | 754324916 | RCV000649404|RCV002388131; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240512 | 240512 | | | 5:g.240512A>C | ClinGen:CA3173261 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly) | 6389 | SDHA | Uncertain significance | 754324916 | RCV000793864|RCV001011765; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240512 | 240512 | | | 5:g.240512A>G | - | | |
NM_004168.4(SDHA):c.1476T>C (p.Ser492=) | 6389 | SDHA | Likely benign | 1376968004 | RCV000543040|RCV002395445; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240516 | 240516 | | | 5:g.240516T>C | ClinGen:CA442692215 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe) | 6389 | SDHA | Uncertain significance | 1579417619 | RCV000801188; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240517 | 240517 | | | 5:g.240517G>T | - | | |
NM_004168.4(SDHA):c.1479C>T (p.Val493=) | 6389 | SDHA | Likely benign | 2126602710 | RCV002155982|RCV002391333; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240519 | 240519 | | | 240519 | - | | |
NM_004168.4(SDHA):c.1480A>G (p.Met494Val) | 6389 | SDHA | Uncertain significance | 1579417628 | RCV000797162; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240520 | 240520 | | | 5:g.240520A>G | - | | |
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr) | 6389 | SDHA | Uncertain significance | 1561001630 | RCV000686308|RCV003338732; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240521 | 240521 | | | NC_000005.9:g.240521T>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp) | 6389 | SDHA | Uncertain significance | 757663708 | RCV001945858|RCV002491952; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MOND | 5 | 240523 | 240523 | | | 240523 | - | | |
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV003022957; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240524 | 240524 | | | NC_000005.9:g.240524A>T | - | | |
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile) | 6389 | SDHA | Uncertain significance | 1305001616 | RCV001350259; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240526 | 240526 | | | 240526 | - | | |
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu) | 6389 | SDHA | Uncertain significance | 1579417658 | RCV000796925|RCV002388445; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240531 | 240531 | | | 5:g.240531C>G | - | | |
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln) | 6389 | SDHA | Uncertain significance | -1 | RCV002389721|RCV003095233; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240532 | 240532 | | | 240532 | - | | |
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg) | 6389 | SDHA | Uncertain significance | 745592653 | RCV000649413; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240533 | 240533 | | | 5:g.240533A>G | ClinGen:CA3173264 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs) | 6389 | SDHA | Pathogenic | -1 | RCV002389756|RCV003095236; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240533 | 240555 | | | 240532 | - | | |
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV003051544; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240533 | 240533 | | | NC_000005.9:g.240533A>C | - | | |
NM_004168.4(SDHA):c.1498A>C (p.Arg500=) | 6389 | SDHA | Likely benign | 2126602800 | RCV001462997|RCV003160878; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240538 | 240538 | | | 240538 | - | | |
NM_004168.4(SDHA):c.1500A>G (p.Arg500=) | 6389 | SDHA | Likely benign | -1 | RCV002389921|RCV003095249; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240540 | 240540 | | | | - | | |
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys) | 6389 | SDHA | Uncertain significance | 757932443 | RCV000703345|RCV002388325; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240542 | 240542 | | | 5:g.240542T>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1506T>C (p.Ala502=) | 6389 | SDHA | Likely benign | 1364448678 | RCV001505748|RCV002388562; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240546 | 240546 | | | 240546 | - | | |
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn) | 6389 | SDHA | Uncertain significance | 2126602837 | RCV002012421|RCV003382786; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240547 | 240547 | | | 240547 | - | | |
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala) | 6389 | SDHA | Uncertain significance | 1736066055 | RCV001347501|RCV002395768; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240548 | 240548 | | | 240548 | - | | |
NM_004168.4(SDHA):c.1509T>C (p.Asp503=) | 6389 | SDHA | Likely benign | 2126602858 | RCV002134949; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240549 | 240549 | | | 240549 | - | | |
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg) | 6389 | SDHA | Uncertain significance | 1579417710 | RCV000797915|RCV003338804; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240550 | 240550 | | | 5:g.240550G>A | - | | |
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn) | 6389 | SDHA | Uncertain significance | 1060503722 | RCV000465966|RCV002393171; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240554 | 240554 | | | NC_000005.9:g.240554G>A | ClinGen:CA16611974 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val) | 6389 | SDHA | Uncertain significance | 1561001683 | RCV000821609; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240556 | 240556 | | | 5:g.240556A>G | - | | |
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr) | 6389 | SDHA | Uncertain significance | 2126602878 | RCV001897289; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240557 | 240557 | | | 240557 | - | | |
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met) | 6389 | SDHA | Uncertain significance | 955444699 | RCV000691931|RCV002388235; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240558 | 240558 | | | NC_000005.9:g.240558A>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002300012; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240560 | 240560 | | | 240560 | - | | |
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser) | 6389 | SDHA | Uncertain significance | 1060503718 | RCV000475110|RCV002393170; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240562 | 240562 | | | NC_000005.9:g.240562A>T | ClinGen:CA16611842 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala) | 6389 | SDHA | Uncertain significance | 1060503718 | RCV000649454; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240562 | 240562 | | | 5:g.240562A>G | ClinGen:CA359014353 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 151266052 | RCV000032785|RCV000232220|RCV000563852|RCV001719715|RCV001818204; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M | 5 | 240563 | 240563 | | | 5:g.240563C>T | ClinGen:CA130381,OMIM:600857.0006 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1524A>G (p.Thr508=) | 6389 | SDHA | Likely benign | 1356814435 | RCV000544975|RCV002395446; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240564 | 240564 | | | 5:g.240564A>G | ClinGen:CA442692244 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro) | 6389 | SDHA | Uncertain significance | 1579417769 | RCV000815995; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240565 | 240565 | | | 5:g.240565T>C | - | | |
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) | 6389 | SDHA | Uncertain significance | 397514541 | RCV000032786|RCV000695865; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240566 | 240566 | | | 5:g.240566C>T | ClinGen:CA130383,OMIM:600857.0007 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1064793567 | RCV000483714|RCV000575106|RCV000800769|RCV003401517|RCV003476157; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364 | 5 | 240566 | 240567 | | | NC_000005.9:g.240566_240567delinsGA | ClinGen:CA16618198 | | |
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 397514541 | RCV000998347|RCV001053500|RCV002391064; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240566 | 240566 | | | 5:g.240566C>G | - | | |
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 746453879 | RCV000473824|RCV000573305|RCV001152360|RCV001152358|RCV001152359; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO: | 5 | 240567 | 240567 | | | NC_000005.9:g.240567G>A | ClinGen:CA3173266 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val) | 6389 | SDHA | Uncertain significance | 768257880 | RCV001204913|RCV002402589; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240571 | 240571 | | | 5:g.240571C>G | - | | |
NM_004168.4(SDHA):c.1531C>T (p.Leu511=) | 6389 | SDHA | Likely benign | 768257880 | RCV002109158|RCV003161582; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240571 | 240571 | | | 240571 | - | | |
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro) | 6389 | SDHA | Uncertain significance | 375194444 | RCV000225792|RCV000484270|RCV000571145|RCV003417817|RCV003475070; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364 | 5 | 240572 | 240572 | | | NC_000005.9:g.240572T>C | ClinGen:CA3173268 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1533G>A (p.Leu511=) | 6389 | SDHA | Likely benign | 876658698 | RCV000218407|RCV001411405; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240573 | 240573 | | | 5:g.240573G>A | ClinGen:CA10578631 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) | 6389 | SDHA | Pathogenic/Likely pathogenic | 748089700 | RCV000411416|RCV000578965|RCV000684799|RCV000566844|RCV002285327|RCV002502437|RCV003475994; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, | 5 | 240574 | 240574 | | | 5:g.240574C>T | ClinGen:CA3173269 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) | 6389 | SDHA | Uncertain significance | 192818312 | RCV000228640|RCV000502879|RCV002399826|RCV002487068|RCV003475071; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011 | 5 | 240575 | 240575 | | | 5:g.240575G>A | ClinGen:CA3173270 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr) | 6389 | SDHA | Uncertain significance | 587781729 | RCV000129921|RCV000791490; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240581 | 240581 | | | NC_000005.9:g.240581G>C | ClinGen:CA165356 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn) | 6389 | SDHA | Uncertain significance | 587781729 | RCV001241335; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240581 | 240581 | | | 5:g.240581G>A | - | | |
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg) | 6389 | SDHA | Uncertain significance | 1301221379 | RCV001340709|RCV002402942; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240582 | 240582 | | | 240582 | - | | |
NM_004168.4(SDHA):c.1543A>G (p.Met515Val) | 6389 | SDHA | Uncertain significance | 1736069297 | RCV001299585|RCV002402832; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240583 | 240583 | | | 240583 | - | | |
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile) | 6389 | SDHA | Uncertain significance | 1736069479 | RCV001323905; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240585 | 240585 | | | 240585 | - | | |
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile) | 6389 | SDHA | Uncertain significance | -1 | RCV002797179|RCV003167805; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240585 | 240585 | | | NC_000005.9:g.240585G>A | - | | |
NM_004168.4(SDHA):c.1547dup (p.Lys517fs) | 6389 | SDHA | Pathogenic | 1554000378 | RCV000649407; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240586 | 240587 | | | 5:g.240586_240587insA | ClinGen:CA658796492 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu) | 6389 | SDHA | Uncertain significance | 1251348764 | RCV000691589; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240586 | 240586 | | | 5:g.240586C>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup) | 6389 | SDHA | Uncertain significance | 1736070159 | RCV001225383|RCV003294077; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240586 | 240587 | | | 5:g.240586_240587insAGA | - | | |
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg) | 6389 | SDHA | Uncertain significance | 981171929 | RCV000793250|RCV002256503|RCV003148864; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 240587 | 240587 | | | 5:g.240587A>G | - | | |
NM_004168.4(SDHA):c.1548G>A (p.Gln516=) | 6389 | SDHA | Likely benign | 2126603098 | RCV002149706; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240588 | 240588 | | | 240588 | - | | |
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 786205210 | RCV000231483|RCV002259327; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240589 | 240589 | | | NC_000005.9:g.240589A>G | ClinGen:CA358607,ClinVar:190221 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1551G>A (p.Lys517=) | 6389 | SDHA | Uncertain significance | 772822136 | RCV001999666|RCV002398097; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240591 | 240591 | | | 240591 | - | | |
NM_004168.4(SDHA):c.1551+1G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 759806010 | RCV001041775|RCV003160278; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240592 | 240592 | | | 5:g.240592G>A | - | | |
NM_004168.4(SDHA):c.1551+3A>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 767596385 | RCV001202435|RCV002402577; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 240594 | 240594 | | | 5:g.240594A>G | - | | |
NM_004168.4(SDHA):c.1551+4A>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 928294715 | RCV000649432|RCV001012124|RCV000606754; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 240595 | 240595 | | | 5:g.240595A>G | ClinGen:CA112829820 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1551+4A>T | 6389 | SDHA | Uncertain significance | 928294715 | RCV001303372; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240595 | 240595 | | | 240595 | - | | |
NM_004168.4(SDHA):c.1551+5G>C | 6389 | SDHA | Uncertain significance | 2126603143 | RCV001912401; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240596 | 240596 | | | 240596 | - | | |
NM_004168.4(SDHA):c.1551+6A>G | 6389 | SDHA | Uncertain significance | 369507726 | RCV000557246; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240597 | 240597 | | | 5:g.240597A>G | ClinGen:CA3173274 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1551+7G>C | 6389 | SDHA | Likely benign | 760796714 | RCV001397090; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240598 | 240598 | | | 5:g.240598G>C | ClinGen:CA3173275 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1551+7G>A | 6389 | SDHA | Likely benign | 760796714 | RCV000933687; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240598 | 240598 | | | 5:g.240598G>A | - | | |
NM_004168.4(SDHA):c.1551+9C>T | 6389 | SDHA | Likely benign | 2126603158 | RCV002136967; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 240600 | 240600 | | | 240600 | - | | |
NM_004168.4(SDHA):c.1551+11G>C | 6389 | SDHA | Likely benign | -1 | RCV003066243; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240602 | 240602 | | | NC_000005.9:g.240602G>C | - | | |
NM_004168.4(SDHA):c.1551+12G>A | 6389 | SDHA | Likely benign | -1 | RCV003051210; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240603 | 240603 | | | NC_000005.9:g.240603G>A | - | | |
NM_004168.4(SDHA):c.1551+16C>T | 6389 | SDHA | Benign/Likely benign | 184954254 | RCV000435576|RCV001511158|RCV001528986|RCV002502505; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, | 5 | 240607 | 240607 | | | 5:g.240607C>T | ClinGen:CA3173278 | CN169374 not specified; | |
NM_004168.4(SDHA):c.1551+17G>A | 6389 | SDHA | Likely benign | 376232883 | RCV002086990; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240608 | 240608 | | | 240608 | - | | |
NM_004168.4(SDHA):c.1551+18C>T | 6389 | SDHA | Likely benign | 2126603212 | RCV002080673; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240609 | 240609 | | | 240609 | - | | |
NM_004168.4(SDHA):c.1551+18C>A | 6389 | SDHA | Likely benign | -1 | RCV003007590; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 240609 | 240609 | | | NC_000005.9:g.240609C>A | - | | |
NM_004168.4(SDHA):c.1552-173_1585dup | 6389 | SDHA | Uncertain significance | 1736773597 | RCV001325808; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 250933 | 250934 | | | 250933 | - | | |
NM_004168.4(SDHA):c.1552-20A>C | 6389 | SDHA | Likely benign | 1378314484 | RCV002117217; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251087 | 251087 | | | 251087 | - | | |
NM_004168.4(SDHA):c.1552-20A>G | 6389 | SDHA | Likely benign | 1378314484 | RCV002172712; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251087 | 251087 | | | 251087 | - | | |
NM_004168.4(SDHA):c.1552-18T>G | 6389 | SDHA | Likely benign | 2126631828 | RCV002093037; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251089 | 251089 | | | 251089 | - | | |
NM_004168.4(SDHA):c.1552-16A>G | 6389 | SDHA | Likely benign | 1418838846 | RCV001921073; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251091 | 251091 | | | 251091 | - | | |
NM_004168.4(SDHA):c.1552-15T>C | 6389 | SDHA | Likely benign | 543628983 | RCV000601012|RCV002066523; | N | MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251092 | 251092 | | | 5:g.251092T>C | ClinGen:CA3173294 | CN169374 not specified; | |
NM_004168.4(SDHA):c.1552-14A>G | 6389 | SDHA | Likely benign | 762315793 | RCV002098693; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251093 | 251093 | | | 251093 | - | | |
NM_004168.4(SDHA):c.1552-13T>C | 6389 | SDHA | Likely benign | 1280763236 | RCV002081115; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251094 | 251094 | | | 251094 | - | | |
NM_004168.4(SDHA):c.1552-12T>C | 6389 | SDHA | Likely benign | 2126631871 | RCV002147170; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251095 | 251095 | | | 251095 | - | | |
NM_004168.4(SDHA):c.1552-10T>G | 6389 | SDHA | Uncertain significance | 1736784473 | RCV001064929; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251097 | 251097 | | | 5:g.251097T>G | - | | |
NM_004168.4(SDHA):c.1552-9G>A | 6389 | SDHA | Likely benign | 765624219 | RCV001452964; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251098 | 251098 | | | 251098 | - | | |
NM_004168.4(SDHA):c.1552-7G>A | 6389 | SDHA | Likely benign | 1351792129 | RCV001488057; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251100 | 251100 | | | 5:g.251100G>A | - | | |
NM_004168.4(SDHA):c.1552-7G>T | 6389 | SDHA | Likely benign | 1351792129 | RCV000983788; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251100 | 251100 | | | 5:g.251100G>T | - | | |
NM_004168.4(SDHA):c.1552-7G>C | 6389 | SDHA | Likely benign | 1351792129 | RCV001436516; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251100 | 251100 | | | 251100 | - | | |
NM_004168.4(SDHA):c.1552-6C>T | 6389 | SDHA | Likely benign | 2126631902 | RCV001506571; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251101 | 251101 | | | 251101 | - | | |
NM_004168.4(SDHA):c.1552-3_1552-2del | 6389 | SDHA | Uncertain significance | 2126631914 | RCV002005047; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251102 | 251103 | | | 251101 | - | | |
NM_004168.4(SDHA):c.1552-3C>T | 6389 | SDHA | Uncertain significance | 1222778933 | RCV000649455|RCV001012127; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251104 | 251104 | | | 5:g.251104C>T | ClinGen:CA557102395 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro) | 6389 | SDHA | Uncertain significance | 2126631929 | RCV001371441; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251107 | 251107 | | | 251107 | - | | |
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr) | 6389 | SDHA | Uncertain significance | -1 | RCV002667585; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251107 | 251107 | | | NC_000005.9:g.251107T>A | - | | |
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu) | 6389 | SDHA | Uncertain significance | 2126631937 | RCV001907865; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251108 | 251108 | | | 251108 | - | | |
NM_004168.4(SDHA):c.1555A>G (p.Met519Val) | 6389 | SDHA | Uncertain significance | 2126631942 | RCV001974203|RCV002398040; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251110 | 251110 | | | 251110 | - | | |
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter) | 6389 | SDHA | Pathogenic | 2126631964 | RCV001924318; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251113 | 251113 | | | 251113 | - | | |
NM_004168.4(SDHA):c.1560A>G (p.Gln520=) | 6389 | SDHA | Likely benign | 1261025402 | RCV001415360; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251115 | 251115 | | | 5:g.251115A>G | - | | |
NM_004168.4(SDHA):c.1564_1566del (p.His522del) | 6389 | SDHA | Uncertain significance | 1325342549 | RCV001062225|RCV002402440|RCV003473682; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251117 | 251119 | | | 5:g.251117_251119del | - | | |
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr) | 6389 | SDHA | Uncertain significance | -1 | RCV003034962; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251119 | 251119 | | | NC_000005.9:g.251119C>T | - | | |
NM_004168.4(SDHA):c.1565A>G (p.His522Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002405500|RCV003100725; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251120 | 251120 | | | 251120 | - | | |
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser) | 6389 | SDHA | Uncertain significance | 1554001820 | RCV000649393; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251122 | 251122 | | | NC_000005.9:g.251122G>T | ClinGen:CA358998442 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp) | 6389 | SDHA | Uncertain significance | 1736785630 | RCV001234164; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251123 | 251123 | | | 5:g.251123C>A | - | | |
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly) | 6389 | SDHA | Uncertain significance | 1736785630 | RCV001346982|RCV002404817|RCV003154005; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 251123 | 251123 | | | 251123 | - | | |
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val) | 6389 | SDHA | Uncertain significance | 1736785630 | RCV001920893|RCV002397907; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251123 | 251123 | | | 251123 | - | | |
NM_004168.4(SDHA):c.1569T>C (p.Ala523=) | 6389 | SDHA | Benign/Likely benign | 150192376 | RCV000445091|RCV000458596|RCV000566664; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251124 | 251124 | | | 5:g.251124T>C | ClinGen:CA3173297 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002876913; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251125 | 251125 | | | NC_000005.9:g.251125G>T | - | | |
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) | 6389 | SDHA | Pathogenic/Likely pathogenic | 137852767 | RCV000009282|RCV000520939|RCV000649458|RCV002399314|RCV003473061; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O | 5 | 251126 | 251126 | | | 5:g.251126C>T | ClinGen:CA119880,UniProtKB:P31040#VAR_016878,OMIM:600857.0002 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1572C>G (p.Ala524=) | 6389 | SDHA | Likely benign | 185679709 | RCV000550313|RCV002404525; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251127 | 251127 | | | NC_000005.9:g.251127C>G | ClinGen:CA442657263 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1572C>T (p.Ala524=) | 6389 | SDHA | Likely benign | 185679709 | RCV000954797|RCV002400113; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251127 | 251127 | | | 5:g.251127C>T | - | | |
NM_004168.4(SDHA):c.1573G>A (p.Val525Met) | 6389 | SDHA | Uncertain significance | 979815942 | RCV000558310|RCV001012216|RCV003238773; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 251128 | 251128 | | | NC_000005.9:g.251128G>A | ClinGen:CA112783487 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1575G>A (p.Val525=) | 6389 | SDHA | Likely benign | 766757653 | RCV001400092; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251130 | 251130 | | | 5:g.251130G>A | - | | |
NM_004168.4(SDHA):c.1579del (p.Arg527fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1579437839 | RCV000809642|RCV002390625|RCV002501099|RCV003316813; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 251133 | 251133 | | | 5:g.251133_251133del | - | | |
NM_004168.4(SDHA):c.1578C>T (p.Phe526=) | 6389 | SDHA | Likely benign | 2126632042 | RCV001400009; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251133 | 251133 | | | 251133 | - | | |
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu) | 6389 | SDHA | Uncertain significance | 2126632042 | RCV002042300|RCV002397778|RCV003475115; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251133 | 251133 | | | 251133 | - | | |
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys) | 6389 | SDHA | Uncertain significance | 138723511 | RCV000477361|RCV001012271|RCV001764450; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 251134 | 251134 | | | NC_000005.9:g.251134C>T | ClinGen:CA3173300 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 766352407 | RCV000287976|RCV000352061|RCV000396802|RCV000461471|RCV001012256|RCV003475935; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100 | 5 | 251135 | 251135 | | | NC_000005.9:g.251135G>A | ClinGen:CA3173301 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.1581T>C (p.Arg527=) | 6389 | SDHA | Likely benign | 2126632074 | RCV002155140|RCV002398249; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251136 | 251136 | | | 251136 | - | | |
NM_004168.4(SDHA):c.1584G>C (p.Val528=) | 6389 | SDHA | Likely benign | -1 | RCV002898920; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251139 | 251139 | | | | - | | |
NM_004168.4(SDHA):c.1584G>T (p.Val528=) | 6389 | SDHA | Likely benign | -1 | RCV002899383; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251139 | 251139 | | | | - | | |
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg) | 6389 | SDHA | Uncertain significance | 370291114 | RCV000466069|RCV001012294|RCV003476120; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251140 | 251140 | | | NC_000005.9:g.251140G>C | ClinGen:CA3173302 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala) | 6389 | SDHA | Uncertain significance | 2126632088 | RCV001864447; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251141 | 251141 | | | 251141 | - | | |
NM_004168.4(SDHA):c.1590C>T (p.Ser530=) | 6389 | SDHA | Likely benign | 1060503701 | RCV000457655|RCV001012331; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251145 | 251145 | | | 5:g.251145C>T | ClinGen:CA16611975 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1591G>A (p.Val531Met) | 6389 | SDHA | Uncertain significance | 371056571 | RCV000193391|RCV000226464|RCV000410380|RCV000573905|RCV001093473; | N | MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, | 5 | 251146 | 251146 | | | 5:g.251146G>A | ClinGen:CA206847 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu) | 6389 | SDHA | Uncertain significance | 371056571 | RCV001220419|RCV002402664|RCV002484197; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 251146 | 251146 | | | 5:g.251146G>T | - | | |
NM_004168.4(SDHA):c.1593G>A (p.Val531=) | 6389 | SDHA | Likely benign | 2126632110 | RCV001489340; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251148 | 251148 | | | 251148 | - | | |
NM_004168.4(SDHA):c.1596G>A (p.Leu532=) | 6389 | SDHA | Likely benign | 1449742263 | RCV000926023|RCV002400029; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251151 | 251151 | | | 5:g.251151G>A | - | | |
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe) | 6389 | SDHA | Uncertain significance | 1449742263 | RCV001208709|RCV002402614; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251151 | 251151 | | | 5:g.251151G>T | - | | |
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu) | 6389 | SDHA | Uncertain significance | 149367009 | RCV000469150|RCV001012355|RCV002298608|RCV003476131; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 251152 | 251152 | | | NC_000005.9:g.251152C>G | ClinGen:CA3173303 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu) | 6389 | SDHA | Uncertain significance | 1395387473 | RCV001056476; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251153 | 251153 | | | 5:g.251153A>T | - | | |
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del) | 6389 | SDHA | Uncertain significance | 1736788779 | RCV001241320|RCV003166504; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251153 | 251155 | | | 5:g.251153_251155del | - | | |
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro) | 6389 | SDHA | Uncertain significance | 1395387473 | RCV001342503; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251153 | 251153 | | | 251153 | - | | |
NM_004168.4(SDHA):c.1599A>G (p.Gln533=) | 6389 | SDHA | Likely benign | 1407806818 | RCV000534189|RCV002404526; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251154 | 251154 | | | NC_000005.9:g.251154A>G | ClinGen:CA442657282 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002991673; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251155 | 251155 | | | NC_000005.9:g.251155G>A | - | | |
NM_004168.4(SDHA):c.1602A>G (p.Glu534=) | 6389 | SDHA | Likely benign | 2126632157 | RCV001487705; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251157 | 251157 | | | 251157 | - | | |
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys) | 6389 | SDHA | Uncertain significance | 777622021 | RCV000551366|RCV002404527; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251158 | 251158 | | | NC_000005.9:g.251158G>T | ClinGen:CA3173304 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala) | 6389 | SDHA | Uncertain significance | 1736789524 | RCV001232735|RCV003473800; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251159 | 251159 | | | 5:g.251159G>C | - | | |
NM_004168.4(SDHA):c.1605T>C (p.Gly535=) | 6389 | SDHA | Likely benign | 1219265731 | RCV001422966; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251160 | 251160 | | | 251160 | - | | |
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr) | 6389 | SDHA | Uncertain significance | 1736789855 | RCV001242993; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251162 | 251162 | | | 5:g.251162G>A | - | | |
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe) | 6389 | SDHA | Uncertain significance | -1 | RCV002301629; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251162 | 251162 | | | 251162 | - | | |
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter) | 6389 | SDHA | Pathogenic | -1 | RCV003015540; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251163 | 251163 | | | NC_000005.9:g.251163T>A | - | | |
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg) | 6389 | SDHA | Uncertain significance | 1736789994 | RCV001345903|RCV002395760|RCV003473872; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251164 | 251164 | | | 251164 | - | | |
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) | 6389 | SDHA | Pathogenic/Likely pathogenic | 1554001843 | RCV000457642|RCV003456080|RCV003476128; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251166 | 251167 | | | NC_000005.9:g.251170dup | ClinGen:CA16611891 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1611G>A (p.Gly537=) | 6389 | SDHA | Likely benign | 1060505009 | RCV000457724|RCV002402372; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251166 | 251166 | | | NC_000005.9:g.251166G>A | ClinGen:CA16611976 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1614A>G (p.Lys538=) | 6389 | SDHA | Likely benign | 1554001847 | RCV000526113|RCV002395447; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251169 | 251169 | | | 5:g.251169A>G | ClinGen:CA442657292 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val) | 6389 | SDHA | Uncertain significance | -1 | RCV003040695; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251170 | 251170 | | | NC_000005.9:g.251170A>G | - | | |
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser) | 6389 | SDHA | Uncertain significance | 749219128 | RCV000538676|RCV002395448; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251171 | 251171 | | | 5:g.251171T>G | ClinGen:CA3173305 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1617C>T (p.Ile539=) | 6389 | SDHA | Likely benign | 2126632215 | RCV002208831|RCV003303731; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251172 | 251172 | | | 251172 | - | | |
NM_004168.4(SDHA):c.1620C>T (p.Ser540=) | 6389 | SDHA | Likely benign | -1 | RCV002886269; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251175 | 251175 | | | | - | | |
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu) | 6389 | SDHA | Uncertain significance | 1736791200 | RCV001218244; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251176 | 251176 | | | 5:g.251176A>G | - | | |
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 35502109 | RCV000239362|RCV000242066|RCV000569690|RCV001081440|RCV001153642|RCV001153643|RCV001153641|RCV003316319; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C002 | 5 | 251178 | 251178 | | | NC_000005.9:g.251178G>A | ClinGen:CA3173306 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro) | 6389 | SDHA | Uncertain significance | 1233761838 | RCV001336640|RCV001865854|RCV002402923; | N | MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251180 | 251180 | | | 251180 | - | | |
NM_004168.4(SDHA):c.1626C>T (p.Leu542=) | 6389 | SDHA | Likely benign | 1269358534 | RCV001428428|RCV002405000; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251181 | 251181 | | | 251181 | - | | |
NM_004168.4(SDHA):c.1626C>G (p.Leu542=) | 6389 | SDHA | Likely benign | -1 | RCV003052454; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251181 | 251181 | | | | - | | |
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) | 6389 | SDHA | Uncertain significance | 1339009840 | RCV000551034|RCV001012481|RCV002491085; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 251182 | 251182 | | | NC_000005.9:g.251182T>C | ClinGen:CA358998693 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys) | 6389 | SDHA | Uncertain significance | 778670859 | RCV001981564|RCV002397988; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251183 | 251183 | | | 251183 | - | | |
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=) | 6389 | SDHA | Likely benign | 747249998 | RCV000459700|RCV000569829; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251184 | 251184 | | | NC_000005.9:g.251184T>C | ClinGen:CA3173308 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) | 6389 | SDHA | Pathogenic | 747249998 | RCV000649408|RCV001535631; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072 | 5 | 251184 | 251184 | | | 5:g.251184T>G | ClinGen:CA358998711 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg) | 6389 | SDHA | Uncertain significance | 1338347881 | RCV001204999; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251185 | 251185 | | | 5:g.251185G>A | - | | |
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu) | 6389 | SDHA | Uncertain significance | 2126632293 | RCV001945900|RCV002397928; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251186 | 251186 | | | 251186 | - | | |
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn) | 6389 | SDHA | Uncertain significance | 1736792773 | RCV001308861; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251188 | 251188 | | | 251188 | - | | |
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr) | 6389 | SDHA | Uncertain significance | 1736792773 | RCV001984856; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251188 | 251188 | | | 251188 | - | | |
NM_004168.4(SDHA):c.1638A>C (p.Leu546=) | 6389 | SDHA | Likely benign | 1041963 | RCV001484156|RCV002399932; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251193 | 251193 | | | 5:g.251193A>C | - | | |
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln) | 6389 | SDHA | Uncertain significance | -1 | RCV003085506; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251194 | 251194 | | | NC_000005.9:g.251194A>C | - | | |
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg) | 6389 | SDHA | Uncertain significance | 1561010407 | RCV000693477|RCV003338734|RCV003472210; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251195 | 251195 | | | NC_000005.9:g.251195A>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn) | 6389 | SDHA | Uncertain significance | 1267429398 | RCV001988310; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251196 | 251196 | | | 251196 | - | | |
NM_004168.4(SDHA):c.1643A>G (p.His548Arg) | 6389 | SDHA | Uncertain significance | -1 | RCV002603351; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251198 | 251198 | | | NC_000005.9:g.251198A>G | - | | |
NM_004168.4(SDHA):c.1644C>T (p.His548=) | 6389 | SDHA | Likely benign | 1126427 | RCV000463554|RCV002395139; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251199 | 251199 | | | NC_000005.9:g.251199C>T | ClinGen:CA3173309 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro) | 6389 | SDHA | Uncertain significance | 1579438155 | RCV000821834; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251201 | 251201 | | | 5:g.251201T>C | - | | |
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln) | 6389 | SDHA | Uncertain significance | 1400219619 | RCV000697520; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251203 | 251203 | | | NC_000005.9:g.251203A>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1650G>A (p.Lys550=) | 6389 | SDHA | Likely benign | 1359705251 | RCV001422453|RCV003284315; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251205 | 251205 | | | 251205 | - | | |
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala) | 6389 | SDHA | Uncertain significance | 1200051286 | RCV001060536; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251206 | 251206 | | | 5:g.251206A>G | - | | |
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) | 6389 | SDHA | Uncertain significance | 181238392 | RCV000458208|RCV000569746|RCV000662939|RCV002475896; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 251207 | 251207 | | | NC_000005.9:g.251207C>T | ClinGen:CA3173310 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1653G>A (p.Thr551=) | 6389 | SDHA | Likely benign | 761927291 | RCV000229586|RCV000565314; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251208 | 251208 | | | 5:g.251208G>A | ClinGen:CA3173311 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val) | 6389 | SDHA | Uncertain significance | 1736795269 | RCV001242634|RCV002402770; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251209 | 251209 | | | 5:g.251209T>G | - | | |
NM_004168.4(SDHA):c.1656C>T (p.Phe552=) | 6389 | SDHA | Likely benign | 1170030451 | RCV000573955|RCV000864334; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251211 | 251211 | | | NC_000005.9:g.251211C>T | ClinGen:CA442657314 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1656del (p.Phe552fs) | 6389 | SDHA | Pathogenic | 1736795573 | RCV001041854; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251211 | 251211 | | | 5:g.251211_251211del | - | | |
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs) | 6389 | SDHA | Pathogenic | 2126632404 | RCV001956414; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251211 | 251214 | | | 251210 | - | | |
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn) | 6389 | SDHA | Uncertain significance | 769882609 | RCV000233573|RCV001012585|RCV001762530|RCV003475072; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 251212 | 251212 | | | NC_000005.9:g.251212G>A | ClinGen:CA3173312 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala) | 6389 | SDHA | Uncertain significance | 1060503723 | RCV000472549; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251213 | 251213 | | | NC_000005.9:g.251213A>C | ClinGen:CA16611893 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1659C>T (p.Asp553=) | 6389 | SDHA | Likely benign | -1 | RCV002819191; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251214 | 251214 | | | | - | | |
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 9809219 | RCV000009281|RCV000456631|RCV000573113|RCV000790927|RCV001818148|RCV003315222|RCV003473060; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M | 5 | 251215 | 251215 | | | NC_000005.9:g.251215C>T | ClinGen:CA119879,UniProtKB:P31040#VAR_002449,OMIM:600857.0001 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1660C>A (p.Arg554=) | 6389 | SDHA | Likely benign | 9809219 | RCV002217905|RCV002398197; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251215 | 251215 | | | 251215 | - | | |
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 376391115 | RCV000226282|RCV000565244|RCV000663186|RCV001153644|RCV001153645|RCV001153646|RCV002253311|RCV002267990; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 251216 | 251216 | | | NC_000005.9:g.251216G>A | ClinGen:CA3173313 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu) | 6389 | SDHA | Uncertain significance | 376391115 | RCV001203540; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251216 | 251216 | | | 5:g.251216G>T | - | | |
NM_004168.4(SDHA):c.1662G>T (p.Arg554=) | 6389 | SDHA | Uncertain significance | 1579438241 | RCV000821769; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251217 | 251217 | | | 5:g.251217G>T | - | | |
NM_004168.4(SDHA):c.1662G>C (p.Arg554=) | 6389 | SDHA | Uncertain significance | 1579438241 | RCV001236409; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251217 | 251217 | | | 5:g.251217G>C | - | | |
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg) | 6389 | SDHA | Uncertain significance | 1392860800 | RCV000703879|RCV002397470; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251218 | 251218 | | | 5:g.251218G>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg) | 6389 | SDHA | Uncertain significance | 1392860800 | RCV001968186; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251218 | 251218 | | | 251218 | - | | |
NM_004168.4(SDHA):c.1663+1G>T | 6389 | SDHA | Pathogenic/Likely pathogenic | 766667009 | RCV000218973|RCV000466792|RCV002500730|RCV003229821|RCV003475016; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 251219 | 251219 | | | 5:g.251219G>T | ClinGen:CA3173314 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1663+1G>A | 6389 | SDHA | Pathogenic/Likely pathogenic | 766667009 | RCV001229903|RCV002402720|RCV002480754|RCV003336351; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 251219 | 251219 | | | 5:g.251219G>A | - | | |
NM_004168.4(SDHA):c.1663+1G>C | 6389 | SDHA | Pathogenic | -1 | RCV002885195; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251219 | 251219 | | | NC_000005.9:g.251219G>C | - | | |
NM_004168.4(SDHA):c.1663+3G>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 751904543 | RCV000700223|RCV001799703|RCV002397443; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015 | 5 | 251221 | 251221 | | | 5:g.251221G>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1663+5G>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1736797211 | RCV001046874|RCV003473632; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251223 | 251223 | | | 5:g.251223G>C | - | | |
NM_004168.4(SDHA):c.1663+6C>G | 6389 | SDHA | Uncertain significance | 1736797323 | RCV001225632; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251224 | 251224 | | | 5:g.251224C>G | - | | |
NM_004168.4(SDHA):c.1663+7A>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1579438260 | RCV000978101|RCV003438642; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900 | 5 | 251225 | 251225 | | | 5:g.251225A>G | - | | |
NM_004168.4(SDHA):c.1663+10C>G | 6389 | SDHA | Likely benign | -1 | RCV003053612; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251228 | 251228 | | | NC_000005.9:g.251228C>G | - | | |
NM_004168.4(SDHA):c.1663+11A>C | 6389 | SDHA | Likely benign | 1037190778 | RCV002162145; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251229 | 251229 | | | 251229 | - | | |
NM_004168.4(SDHA):c.1663+17C>T | 6389 | SDHA | Likely benign | 759291109 | RCV002165500; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251235 | 251235 | | | 251235 | - | | |
NM_004168.4(SDHA):c.1663+19C>T | 6389 | SDHA | Likely benign | 1214851392 | RCV002092873; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251237 | 251237 | | | 251237 | - | | |
NM_004168.4(SDHA):c.1663+20T>C | 6389 | SDHA | Likely benign | 1226482893 | RCV002145150; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251238 | 251238 | | | 251238 | - | | |
NM_004168.4(SDHA):c.1664-20G>A | 6389 | SDHA | Uncertain significance | 1310666225 | RCV001970882; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251433 | 251433 | | | 251433 | - | | |
NM_004168.4(SDHA):c.1664-19G>A | 6389 | SDHA | Likely benign | 2126633052 | RCV002114007; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251434 | 251434 | | | 251434 | - | | |
NM_004168.4(SDHA):c.1664-16C>G | 6389 | SDHA | Likely benign | 763374204 | RCV002198230; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251437 | 251437 | | | 251437 | - | | |
NM_004168.4(SDHA):c.1664-11del | 6389 | SDHA | Benign | 1561010692 | RCV002127371; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251438 | 251438 | | | 251437 | - | | |
NM_004168.4(SDHA):c.1664-13T>C | 6389 | SDHA | Likely benign | 1057524514 | RCV000423740|RCV002525496; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251440 | 251440 | | | 5:g.251440T>C | ClinGen:CA16604891 | CN169374 not specified; | |
NM_004168.4(SDHA):c.1664-9dup | 6389 | SDHA | Likely benign | 2126633086 | RCV001470440; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251443 | 251444 | | | 251443 | - | | |
NM_004168.4(SDHA):c.1664-10G>T | 6389 | SDHA | Likely benign | 1736810726 | RCV002165832; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251443 | 251443 | | | 251443 | - | | |
NM_004168.4(SDHA):c.1664-8G>A | 6389 | SDHA | Benign/Likely benign | 199790689 | RCV000118313|RCV000205034|RCV000312438|RCV000367152|RCV000396767|RCV002477296|RCV003315677; | N | MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072| | 5 | 251445 | 251445 | | | 5:g.251445G>A | ClinGen:CA345541 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.1664-5C>G | 6389 | SDHA | Likely benign | 1211852182 | RCV001905768; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251448 | 251448 | | | 251448 | - | | |
NM_004168.4(SDHA):c.1664-4C>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 774876028 | RCV000527162|RCV001012643; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251449 | 251449 | | | 5:g.251449C>G | ClinGen:CA658657412 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1664-4C>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 774876028 | RCV000871165|RCV002399933; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251449 | 251449 | | | 5:g.251449C>A | - | | |
NM_004168.4(SDHA):c.1664-4C>T | 6389 | SDHA | Likely benign | -1 | RCV002403872|RCV003097082; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251449 | 251449 | | | 251449 | - | | |
NM_004168.4(SDHA):c.1664-2A>G | 6389 | SDHA | Likely pathogenic | 2126633124 | RCV001379935|RCV002404895; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251451 | 251451 | | | 251451 | - | | |
NM_004168.4(SDHA):c.1664-1G>A | 6389 | SDHA | Likely pathogenic | -1 | RCV002796547; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251452 | 251452 | | | NC_000005.9:g.251452G>A | - | | |
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) | 6389 | SDHA | Pathogenic | 137852768 | RCV000009286|RCV000009284|RCV001221088; | N | MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251453 | 251453 | | | 5:g.251453G>A | ClinGen:CA119883,UniProtKB:P31040#VAR_016879,OMIM:600857.0004 | C3150898 613642 Dilated cardiomyopathy 1GG; | |
NM_004168.4(SDHA):c.1666A>G (p.Met556Val) | 6389 | SDHA | Uncertain significance | 980397872 | RCV000539477|RCV002395449; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251455 | 251455 | | | 5:g.251455A>G | ClinGen:CA112783554 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr) | 6389 | SDHA | Uncertain significance | 1579438769 | RCV001012629|RCV001319900|RCV003396598; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374 | 5 | 251456 | 251456 | | | 5:g.251456T>C | - | | |
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys) | 6389 | SDHA | Uncertain significance | 1579438769 | RCV001301625; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251456 | 251456 | | | 251456 | - | | |
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile) | 6389 | SDHA | Uncertain significance | 2126633148 | RCV001979645; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251457 | 251457 | | | 251457 | - | | |
NM_004168.4(SDHA):c.1671C>A (p.Val557=) | 6389 | SDHA | Likely benign | 767963713 | RCV001472004; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251460 | 251460 | | | 251460 | - | | |
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys) | 6389 | SDHA | Uncertain significance | 1561010726 | RCV000705255|RCV002397477; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251463 | 251463 | | | 5:g.251463G>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1677C>T (p.Asn559=) | 6389 | SDHA | Likely benign | 2126633167 | RCV002200848; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251466 | 251466 | | | 251466 | - | | |
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala) | 6389 | SDHA | Uncertain significance | 1269114291 | RCV001207335|RCV002402603; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251467 | 251467 | | | 5:g.251467A>G | - | | |
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) | 6389 | SDHA | Uncertain significance | 775350508 | RCV000649400|RCV001012616|RCV003313127|RCV003472040; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 251468 | 251468 | | | NC_000005.9:g.251468C>T | ClinGen:CA3173334 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) | 6389 | SDHA | Benign/Likely benign | 1139449 | RCV000118314|RCV000162436|RCV000298674|RCV000353507|RCV000398522|RCV001513597|RCV001705857|RCV003315678; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320 | 5 | 251469 | 251469 | | | 5:g.251469G>A | ClinGen:CA155146 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1680G>T (p.Thr560=) | 6389 | SDHA | Likely benign | 1139449 | RCV002156655; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251469 | 251469 | | | 251469 | - | | |
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met) | 6389 | SDHA | Uncertain significance | 1561010740 | RCV000794345|RCV002397577; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251473 | 251473 | | | 5:g.251473C>A | - | | |
NM_004168.4(SDHA):c.1684C>T (p.Leu562=) | 6389 | SDHA | Likely benign | 1561010740 | RCV001501575; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251473 | 251473 | | | 251473 | - | | |
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val) | 6389 | SDHA | Uncertain significance | 1561010740 | RCV001997685|RCV002407197; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251473 | 251473 | | | 251473 | - | | |
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro) | 6389 | SDHA | Uncertain significance | 1736814018 | RCV001224144; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251474 | 251474 | | | 5:g.251474T>C | - | | |
NM_004168.4(SDHA):c.1686G>C (p.Leu562=) | 6389 | SDHA | Likely benign | 1579438828 | RCV001417522|RCV002400036; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251475 | 251475 | | | 5:g.251475G>C | - | | |
NM_004168.4(SDHA):c.1686G>T (p.Leu562=) | 6389 | SDHA | Likely benign | 1579438828 | RCV001475399; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251475 | 251475 | | | 251475 | - | | |
NM_004168.4(SDHA):c.1687G>A (p.Val563Met) | 6389 | SDHA | Uncertain significance | 1736814459 | RCV001059823|RCV002409477; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251476 | 251476 | | | 5:g.251476G>A | - | | |
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu) | 6389 | SDHA | Uncertain significance | 1736814459 | RCV001051934|RCV003307861; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251476 | 251476 | | | 5:g.251476G>T | - | | |
NM_004168.4(SDHA):c.1689G>A (p.Val563=) | 6389 | SDHA | Likely benign | 2126633222 | RCV002077620|RCV002407328; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251478 | 251478 | | | 251478 | - | | |
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly) | 6389 | SDHA | Uncertain significance | 763529675 | RCV001921775|RCV003303421; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251480 | 251480 | | | 251480 | - | | |
NM_004168.4(SDHA):c.1692G>A (p.Glu564=) | 6389 | SDHA | Likely benign | 368388954 | RCV000952374|RCV002400109; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251481 | 251481 | | | 5:g.251481G>A | - | | |
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp) | 6389 | SDHA | Uncertain significance | 368388954 | RCV001045602; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251481 | 251481 | | | 5:g.251481G>C | - | | |
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn) | 6389 | SDHA | Uncertain significance | 757176672 | RCV000822013|RCV002397721|RCV002495177; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; | 5 | 251483 | 251483 | | | 5:g.251483C>A | - | | |
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile) | 6389 | SDHA | Uncertain significance | 757176672 | RCV001318903|RCV003339595; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251483 | 251483 | | | 251483 | - | | |
NM_004168.4(SDHA):c.1695C>G (p.Thr565=) | 6389 | SDHA | Likely benign | 765113103 | RCV001444944|RCV002414062; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251484 | 251484 | | | 251484 | - | | |
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val) | 6389 | SDHA | Uncertain significance | 142936520 | RCV000552092|RCV002413604; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251485 | 251485 | | | 5:g.251485C>G | ClinGen:CA112783565 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg) | 6389 | SDHA | Uncertain significance | 1579438883 | RCV000797716|RCV003225735; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251486 | 251486 | | | 5:g.251486T>G | - | | |
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys) | 6389 | SDHA | Uncertain significance | 1736816371 | RCV001325325; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251488 | 251488 | | | 251488 | - | | |
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val) | 6389 | SDHA | Uncertain significance | 1554001912 | RCV000527972; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251491 | 251491 | | | NC_000005.9:g.251491C>G | ClinGen:CA359000014 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1707G>A (p.Gln569=) | 6389 | SDHA | Likely benign | 959934068 | RCV000567195|RCV000922848; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251496 | 251496 | | | 5:g.251496G>A | ClinGen:CA112783567 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr) | 6389 | SDHA | Uncertain significance | 1561010778 | RCV000704274; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251497 | 251497 | | | NC_000005.9:g.251497A>T | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002635034; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251499 | 251499 | | | NC_000005.9:g.251499C>A | - | | |
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val) | 6389 | SDHA | Uncertain significance | 1377424433 | RCV001932947|RCV002397908; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251500 | 251500 | | | 251500 | - | | |
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro) | 6389 | SDHA | Uncertain significance | 1736817446 | RCV001054131|RCV002282442; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374 | 5 | 251501 | 251501 | | | 5:g.251501T>C | - | | |
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg) | 6389 | SDHA | Uncertain significance | 1554001925 | RCV000540559; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251504 | 251504 | | | 5:g.251504T>G | ClinGen:CA359000079 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr) | 6389 | SDHA | Uncertain significance | 1554001925 | RCV001370334|RCV003169902; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251504 | 251504 | | | 251504 | - | | |
NM_004168.4(SDHA):c.1716dup (p.Leu573fs) | 6389 | SDHA | Pathogenic | -1 | RCV002414754|RCV003097158; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251504 | 251505 | | | 251504 | - | | |
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) | 6389 | SDHA | Uncertain significance | 1445945083 | RCV000702338|RCV002397461|RCV003153817|RCV003472238; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 251506 | 251506 | | | NC_000005.9:g.251506C>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1719G>T (p.Leu573=) | 6389 | SDHA | Likely benign | -1 | RCV003090804; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251508 | 251508 | | | | - | | |
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr) | 6389 | SDHA | Uncertain significance | 2126633379 | RCV001983803; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251510 | 251510 | | | 251510 | - | | |
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr) | 6389 | SDHA | Uncertain significance | 1301370839 | RCV000705288; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251512 | 251512 | | | 5:g.251512G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) | 6389 | SDHA | Uncertain significance | 750327309 | RCV000467983|RCV000487393|RCV000572994|RCV000663257|RCV002268094|RCV003476132; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 251513 | 251513 | | | NC_000005.9:g.251513C>T | ClinGen:CA3173339 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 758252610 | RCV000466412|RCV000561801|RCV001156241|RCV001156242|RCV001156240; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO: | 5 | 251514 | 251514 | | | NC_000005.9:g.251514G>A | ClinGen:CA3173340 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1725G>T (p.Ala575=) | 6389 | SDHA | Likely benign | 758252610 | RCV002205101|RCV002398186; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251514 | 251514 | | | 251514 | - | | |
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) | 6389 | SDHA | Uncertain significance | 1318046349 | RCV000700734|RCV001157918|RCV001156243|RCV001157917|RCV002406623; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:000 | 5 | 251516 | 251516 | | | 5:g.251516T>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1728G>A (p.Leu576=) | 6389 | SDHA | Likely benign | 1736819188 | RCV001464556|RCV002405090; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251517 | 251517 | | | 251517 | - | | |
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn) | 6389 | SDHA | Uncertain significance | 1349207461 | RCV001969208; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251522 | 251522 | | | 251522 | - | | |
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile) | 6389 | SDHA | Uncertain significance | 1349207461 | RCV002043820|RCV002398121; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251522 | 251522 | | | 251522 | - | | |
NM_004168.4(SDHA):c.1734C>G (p.Thr578=) | 6389 | SDHA | Likely benign | 748328205 | RCV001012943|RCV001417433; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251523 | 251523 | | | NC_000005.9:g.251523C>G | ClinGen:CA3173342 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val) | 6389 | SDHA | Uncertain significance | 1042052 | RCV001301482; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251524 | 251524 | | | 251524 | - | | |
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr) | 6389 | SDHA | Uncertain significance | 1323205068 | RCV000804084; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251525 | 251525 | | | 5:g.251525T>C | - | | |
NM_004168.4(SDHA):c.1737C>T (p.Ile579=) | 6389 | SDHA | Likely benign | 201454617 | RCV000475760|RCV001012952|RCV001082233|RCV003316633; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 251526 | 251526 | | | NC_000005.9:g.251526C>T | ClinGen:CA3173343 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His) | 6389 | SDHA | Uncertain significance | 1042056 | RCV000649423|RCV002397290; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251527 | 251527 | | | 5:g.251527T>C | ClinGen:CA359000197 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys) | 6389 | SDHA | Uncertain significance | 372707443 | RCV001012930|RCV001234032; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251528 | 251528 | | | 5:g.251528A>G | - | | |
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe) | 6389 | SDHA | Uncertain significance | -1 | RCV002304817|RCV002400430; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251528 | 251528 | | | 251528 | - | | |
NM_004168.4(SDHA):c.1740C>T (p.Tyr580=) | 6389 | SDHA | Likely benign | 3181540 | RCV000574909|RCV000649487; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251529 | 251529 | | | 5:g.251529C>T | ClinGen:CA3173345 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) | 6389 | SDHA | Likely pathogenic | 771111180 | RCV000693056|RCV001012918|RCV001799698; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D0 | 5 | 251530 | 251530 | | | 5:g.251530G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter) | 6389 | SDHA | Pathogenic | -1 | RCV002834957; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251530 | 251530 | | | NC_000005.9:g.251530G>T | - | | |
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs) | 6389 | SDHA | Pathogenic | 2126633505 | RCV002002449; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251531 | 251532 | | | 251530 | - | | |
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro) | 6389 | SDHA | Uncertain significance | 1736821952 | RCV001351177|RCV002404833; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251533 | 251533 | | | 251533 | - | | |
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr) | 6389 | SDHA | Uncertain significance | 878854629 | RCV000230255; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251539 | 251539 | | | NC_000005.9:g.251539G>A | ClinGen:CA10582431 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 201068049 | RCV000232844|RCV000419445|RCV000564512|RCV003475073; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 251540 | 251540 | | | 5:g.251540C>T | ClinGen:CA3173347 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val) | 6389 | SDHA | Uncertain significance | -1 | RCV001239330; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251540 | 251541 | | | NC_000005.9:g.251540_251541inv | - | | |
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) | 6389 | SDHA | Benign | 13070 | RCV000118315|RCV000162485|RCV000268103|RCV000323384|RCV000359489|RCV001513598|RCV001705858|RCV003315679; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:2907 | 5 | 251541 | 251541 | | | 5:g.251541A>G | ClinGen:CA155148 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp) | 6389 | SDHA | Pathogenic | -1 | RCV000689287; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251541 | 251542 | | | NC_000005.9:g.251541_251542inv | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 200397144 | RCV000148027|RCV000163558|RCV000464783|RCV000762143|RCV000765834|RCV001824123|RCV003474794; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208| | 5 | 251542 | 251542 | | | NC_000005.9:g.251542C>T | ClinGen:CA188615,OMIM:600857.0009 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 752360961 | RCV000227812|RCV000410930|RCV001013022|RCV001799642|RCV003475074; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 251543 | 251543 | | | 5:g.251543G>A | ClinGen:CA3173348 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs) | 6389 | SDHA | Pathogenic | 1561010916 | RCV001899180; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251543 | 251547 | | | 251542 | - | | |
NM_004168.4(SDHA):c.1755G>A (p.Arg585=) | 6389 | SDHA | Likely benign | 760254364 | RCV001460934; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251544 | 251544 | | | 251544 | - | | |
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu) | 6389 | SDHA | Uncertain significance | 1736823607 | RCV001303025; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251545 | 251545 | | | 251545 | - | | |
NM_004168.4(SDHA):c.1758G>A (p.Lys586=) | 6389 | SDHA | Likely benign | 1554001953 | RCV001459358; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251547 | 251547 | | | 251547 | - | | |
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys) | 6389 | SDHA | Uncertain significance | 1554001954 | RCV000649395; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251548 | 251548 | | | 5:g.251548G>A | ClinGen:CA359000305 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1761G>A (p.Glu587=) | 6389 | SDHA | Likely benign | 2126633619 | RCV001396044|RCV002413937; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251550 | 251550 | | | 251550 | - | | |
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu) | 6389 | SDHA | Uncertain significance | 1579439198 | RCV000806707; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251552 | 251552 | | | 5:g.251552C>T | - | | |
NM_004168.4(SDHA):c.1764dup (p.Arg589fs) | 6389 | SDHA | Pathogenic | 2126633648 | RCV001917391; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251552 | 251553 | | | 251552 | - | | |
NM_004168.4(SDHA):c.1764A>G (p.Ser588=) | 6389 | SDHA | Likely benign | 2126633642 | RCV001481633; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251553 | 251553 | | | 251553 | - | | |
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) | 6389 | SDHA | Pathogenic/Likely pathogenic | 387906780 | RCV000023042|RCV000554026|RCV000564186|RCV001799611|RCV003162258|RCV003473121; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 251554 | 251554 | | | 5:g.251554C>T | OMIM:600857.0005,ClinGen:CA342723,UniProtKB:P31040#VAR_065975 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1765C>A (p.Arg589=) | 6389 | SDHA | Likely benign | 387906780 | RCV001013029|RCV001459383; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251554 | 251554 | | | 5:g.251554C>A | - | | |
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) | 6389 | SDHA | Likely pathogenic | 387906780 | RCV001234597; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251554 | 251554 | | | 5:g.251554C>G | - | | |
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) | 6389 | SDHA | Likely pathogenic | 763766162 | RCV000467377|RCV001799664|RCV002402299|RCV003476121; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015 | 5 | 251555 | 251555 | | | NC_000005.9:g.251555G>A | ClinGen:CA3173350 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1769del (p.Gly590fs) | 6389 | SDHA | Likely pathogenic | 1554001958 | RCV000530189; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251555 | 251555 | | | NC_000005.9:g.251558del | ClinGen:CA658657413 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) | 6389 | SDHA | Likely pathogenic | 1561010948 | RCV000691877; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251557 | 251558 | | | 5:g.251557_251558insGC | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser) | 6389 | SDHA | Uncertain significance | 1736825032 | RCV001317338; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251557 | 251557 | | | 251557 | - | | |
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp) | 6389 | SDHA | Uncertain significance | 2126633698 | RCV002009555; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251558 | 251558 | | | 251558 | - | | |
NM_004168.4(SDHA):c.1770C>T (p.Gly590=) | 6389 | SDHA | Likely benign | 142457602 | RCV000547065|RCV002404528; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251559 | 251559 | | | NC_000005.9:g.251559C>T | ClinGen:CA3173351 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1770C>A (p.Gly590=) | 6389 | SDHA | Likely benign | 142457602 | RCV002155760; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251559 | 251559 | | | 251559 | - | | |
NM_004168.4(SDHA):c.1770C>G (p.Gly590=) | 6389 | SDHA | Likely benign | 142457602 | RCV002216389; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251559 | 251559 | | | 251559 | - | | |
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr) | 6389 | SDHA | Uncertain significance | 1042170 | RCV000460826|RCV001013059|RCV003441889|RCV003476130; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 251560 | 251560 | | | NC_000005.9:g.251560G>A | ClinGen:CA3173352 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val) | 6389 | SDHA | Uncertain significance | 367621815 | RCV000555083|RCV001013062|RCV002252166|RCV003476309; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 251561 | 251561 | | | 5:g.251561C>T | ClinGen:CA112783592 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1773G>C (p.Ala591=) | 6389 | SDHA | Likely benign | 555028212 | RCV000463453|RCV002402371; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251562 | 251562 | | | NC_000005.9:g.251562G>C | ClinGen:CA3173355 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1773G>A (p.Ala591=) | 6389 | SDHA | Likely benign | 555028212 | RCV000530893|RCV001013065; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251562 | 251562 | | | 5:g.251562G>A | ClinGen:CA3173354 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1773G>T (p.Ala591=) | 6389 | SDHA | Likely benign | -1 | RCV002407674|RCV003108090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251562 | 251562 | | | | - | | |
NM_004168.4(SDHA):c.1774C>A (p.His592Asn) | 6389 | SDHA | Uncertain significance | 1579439269 | RCV000801678|RCV002397618; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251563 | 251563 | | | 5:g.251563C>A | - | | |
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr) | 6389 | SDHA | Uncertain significance | 1579439269 | RCV000820093; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251563 | 251563 | | | 5:g.251563C>T | - | | |
NM_004168.4(SDHA):c.1775A>G (p.His592Arg) | 6389 | SDHA | Uncertain significance | 1554001966 | RCV000543362|RCV002404529; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251564 | 251564 | | | 5:g.251564A>G | ClinGen:CA359000386 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1776T>C (p.His592=) | 6389 | SDHA | Benign/Likely benign | 1126538 | RCV000130494|RCV000205292|RCV000243217|RCV000264789|RCV000329216|RCV000383884|RCV003315895; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29 | 5 | 251565 | 251565 | | | 5:g.251565T>C | ClinGen:CA345712 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1776T>G (p.His592Gln) | 6389 | SDHA | Uncertain significance | 1126538 | RCV000699883; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251565 | 251565 | | | 5:g.251565T>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr) | 6389 | SDHA | Uncertain significance | 1736827311 | RCV001213612; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251566 | 251566 | | | 5:g.251566G>A | - | | |
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp) | 6389 | SDHA | Uncertain significance | 1736827451 | RCV001220797; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251567 | 251567 | | | 5:g.251567C>A | - | | |
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val) | 6389 | SDHA | Uncertain significance | 1736827451 | RCV001239207; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251567 | 251567 | | | 5:g.251567C>T | - | | |
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1302547655 | RCV000803949|RCV001089548|RCV003338812; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251570 | 251570 | | | 5:g.251570G>A | - | | |
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met) | 6389 | SDHA | Uncertain significance | -1 | RCV002829535; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251570 | 251570 | | | NC_000005.9:g.251570G>T | - | | |
NM_004168.4(SDHA):c.1782G>A (p.Arg594=) | 6389 | SDHA | Likely benign | 751329013 | RCV000649465|RCV002397293; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251571 | 251571 | | | 5:g.251571G>A | ClinGen:CA3173356 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys) | 6389 | SDHA | Uncertain significance | -1 | RCV002999382; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251572 | 251572 | | | NC_000005.9:g.251572G>A | - | | |
NM_004168.4(SDHA):c.1786G>C (p.Asp596His) | 6389 | SDHA | Uncertain significance | 371304688 | RCV000570123|RCV000805593; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251575 | 251575 | | | NC_000005.9:g.251575G>C | ClinGen:CA359000449 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr) | 6389 | SDHA | Uncertain significance | 371304688 | RCV001935549|RCV002397912; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251575 | 251575 | | | 251575 | - | | |
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly) | 6389 | SDHA | Uncertain significance | 1126557 | RCV000560589|RCV000562151|RCV001755879|RCV003409812; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900| | 5 | 251576 | 251576 | | | 5:g.251576A>G | ClinGen:CA3173359 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His) | 6389 | SDHA | Uncertain significance | 1060503721 | RCV000469710|RCV002411518; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251578 | 251578 | | | NC_000005.9:g.251578T>C | ClinGen:CA16611990 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe) | 6389 | SDHA | Uncertain significance | 1736828708 | RCV001202665; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251579 | 251579 | | | 5:g.251579A>T | - | | |
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys) | 6389 | SDHA | Uncertain significance | 1736828708 | RCV001926240|RCV002397920; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251579 | 251579 | | | 251579 | - | | |
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=) | 6389 | SDHA | Likely benign | 1226155499 | RCV002103020; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251580 | 251580 | | | 251580 | - | | |
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu) | 6389 | SDHA | Uncertain significance | 2126633857 | RCV001364671|RCV002404866; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251581 | 251581 | | | 251581 | - | | |
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg) | 6389 | SDHA | Uncertain significance | 1579439363 | RCV000795043|RCV002255522; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251582 | 251582 | | | 5:g.251582A>G | - | | |
NM_004168.4(SDHA):c.1794G>A (p.Lys598=) | 6389 | SDHA | Uncertain significance | 1554001975 | RCV000536643; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251583 | 251583 | | | NC_000005.9:g.251583G>A | ClinGen:CA442657923 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1794+1G>A | 6389 | SDHA | Likely pathogenic | 876659595 | RCV000215067|RCV001071130; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251584 | 251584 | | | 5:g.251584G>A | ClinGen:CA10578632 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1794+3G>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 375883981 | RCV000222853|RCV000230640|RCV001753651|RCV003401134; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900| | 5 | 251586 | 251586 | | | 5:g.251586G>C | ClinGen:CA3173360 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1794+3G>A | 6389 | SDHA | Uncertain significance | 375883981 | RCV000649437|RCV002406448; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 251586 | 251586 | | | NC_000005.9:g.251586G>A | ClinGen:CA3173361 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1794+5G>C | 6389 | SDHA | Uncertain significance | 1205244370 | RCV001979288; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251588 | 251588 | | | 251588 | - | | |
NM_004168.4(SDHA):c.1794+5G>A | 6389 | SDHA | Uncertain significance | -1 | RCV002407780|RCV003097247; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251588 | 251588 | | | 251588 | - | | |
NM_004168.4(SDHA):c.1794+6C>T | 6389 | SDHA | Likely benign | -1 | RCV002825362; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251589 | 251589 | | | NC_000005.9:g.251589C>T | - | | |
NM_004168.4(SDHA):c.1794+8T>A | 6389 | SDHA | Likely benign | 1050394308 | RCV000460313; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251591 | 251591 | | | NC_000005.9:g.251591T>A | ClinGen:CA16611847 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1794+8T>G | 6389 | SDHA | Likely benign | 1050394308 | RCV000649471; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251591 | 251591 | | | 5:g.251591T>G | ClinGen:CA658796493 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1794+10C>T | 6389 | SDHA | Likely benign | 1060505010 | RCV000456309; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251593 | 251593 | | | NC_000005.9:g.251593C>T | ClinGen:CA16611901 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1794+11T>C | 6389 | SDHA | Likely benign | -1 | RCV002740344; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251594 | 251594 | | | NC_000005.9:g.251594T>C | - | | |
NM_004168.4(SDHA):c.1794+14C>G | 6389 | SDHA | Likely benign | 1412436993 | RCV002129016; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251597 | 251597 | | | 251597 | - | | |
NM_004168.4(SDHA):c.1794+15C>T | 6389 | SDHA | Likely benign | -1 | RCV003089613; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251598 | 251598 | | | NC_000005.9:g.251598C>T | - | | |
NM_004168.4(SDHA):c.1794+17C>T | 6389 | SDHA | Likely benign | 747352875 | RCV002082675; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 251600 | 251600 | | | 251600 | - | | |
NM_004168.4(SDHA):c.1794+18G>A | 6389 | SDHA | Likely benign | 768882490 | RCV002182070; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251601 | 251601 | | | 251601 | - | | |
NM_004168.4(SDHA):c.1794+18G>T | 6389 | SDHA | Likely benign | -1 | RCV003032689; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251601 | 251601 | | | NC_000005.9:g.251601G>T | - | | |
NM_004168.4(SDHA):c.1794+19C>A | 6389 | SDHA | Likely benign | 776409305 | RCV002098359; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251602 | 251602 | | | 251602 | - | | |
NM_004168.4(SDHA):c.1794+20C>A | 6389 | SDHA | Likely benign | 2126633960 | RCV002165965; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 251603 | 251603 | | | 251603 | - | | |
NM_004168.4(SDHA):c.1795-66C>T | 6389 | SDHA | Benign | 387134 | RCV001544167|RCV001544166|RCV001544302; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259 | 5 | 254442 | 254442 | | | 254442 | - | | |
NM_004168.4(SDHA):c.1795-6C>A | 6389 | SDHA | Uncertain significance | 756792828 | RCV001036595; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254502 | 254502 | | | 5:g.254502C>A | - | | |
NM_004168.4(SDHA):c.1795-5C>T | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1169912956 | RCV000998349|RCV001415584; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254503 | 254503 | | | 5:g.254503C>T | - | | |
NM_004168.4(SDHA):c.1795-3C>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 544544409 | RCV000998350|RCV001056823|RCV001013116; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254505 | 254505 | | | 5:g.254505C>G | - | | |
NM_004168.4(SDHA):c.1795-1G>T | 6389 | SDHA | Pathogenic/Likely pathogenic | 778516878 | RCV000853252|RCV001013115|RCV001379066; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254507 | 254507 | | | 5:g.254507G>T | - | | |
NM_004168.4(SDHA):c.1797G>A (p.Val599=) | 6389 | SDHA | Likely benign | 1060505012 | RCV001506605; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254510 | 254510 | | | NC_000005.9:g.254510G>A | ClinGen:CA16611902 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) | 6389 | SDHA | Uncertain significance | 878854630 | RCV000233512|RCV002411041|RCV002500782|RCV002510828; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO | 5 | 254511 | 254511 | | | 5:g.254511C>T | ClinGen:CA10582432 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1126568 | RCV000246566|RCV000568295|RCV001245529|RCV001528683|RCV001799648|RCV003447520|RCV003475856; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|Human Phenotype Ontology:HP:010 | 5 | 254512 | 254512 | | | NC_000005.9:g.254512G>A | ClinGen:CA3173431 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn) | 6389 | SDHA | Uncertain significance | 1737043619 | RCV001306645|RCV003166745; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254517 | 254517 | | | 254517 | - | | |
NM_004168.4(SDHA):c.1806T>C (p.Asp602=) | 6389 | SDHA | Likely benign | 1554002427 | RCV000543136|RCV002413605; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254519 | 254519 | | | NC_000005.9:g.254519T>C | ClinGen:CA359001660 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly) | 6389 | SDHA | Uncertain significance | 1737044250 | RCV001347354; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254521 | 254521 | | | 254521 | - | | |
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys) | 6389 | SDHA | Uncertain significance | 1737044552 | RCV001215822; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254524 | 254524 | | | 5:g.254524A>G | - | | |
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=) | 6389 | SDHA | Likely benign | 1436919553 | RCV000649469|RCV002406451|RCV002477442; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 254525 | 254525 | | | 5:g.254525C>T | ClinGen:CA359001700 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn) | 6389 | SDHA | Uncertain significance | 771593214 | RCV000649401|RCV002406446; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254526 | 254526 | | | 5:g.254526G>A | ClinGen:CA3173432 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1813G>C (p.Asp605His) | 6389 | SDHA | Uncertain significance | 771593214 | RCV000649442|RCV002406449; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254526 | 254526 | | | 5:g.254526G>C | ClinGen:CA359001707 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn) | 6389 | SDHA | Uncertain significance | 17400614 | RCV001996416; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254529 | 254529 | | | 254529 | - | | |
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=) | 6389 | SDHA | Likely benign | 1226342299 | RCV001474951|RCV002414142; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254531 | 254531 | | | 254531 | - | | |
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro) | 6389 | SDHA | Uncertain significance | 1183122120 | RCV001220657|RCV002411815; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254532 | 254532 | | | 5:g.254532T>C | - | | |
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser) | 6389 | SDHA | Uncertain significance | 1737046014 | RCV001235732; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254538 | 254538 | | | 5:g.254538C>T | - | | |
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg) | 6389 | SDHA | Uncertain significance | 2126641323 | RCV001359503; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254539 | 254539 | | | 254539 | - | | |
NM_004168.4(SDHA):c.1827C>A (p.Pro609=) | 6389 | SDHA | Likely benign | 1060505006 | RCV000474438|RCV002255414; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254540 | 254540 | | | NC_000005.9:g.254540C>A | ClinGen:CA16611904 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1827C>T (p.Pro609=) | 6389 | SDHA | Likely benign | 1060505006 | RCV001398250; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254540 | 254540 | | | 254540 | - | | |
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val) | 6389 | SDHA | Uncertain significance | 1554002446 | RCV000649412|RCV002406447; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254541 | 254541 | | | 5:g.254541A>G | ClinGen:CA359001814 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met) | 6389 | SDHA | Uncertain significance | 1209697697 | RCV000802672|RCV002406780; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254543 | 254543 | | | 5:g.254543C>G | - | | |
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg) | 6389 | SDHA | Uncertain significance | 1737046877 | RCV001348869; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254545 | 254545 | | | 254545 | - | | |
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg) | 6389 | SDHA | Uncertain significance | 1737047578 | RCV001327512; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254547 | 254547 | | | 254547 | - | | |
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu) | 6389 | SDHA | Uncertain significance | 1057523336 | RCV000424508|RCV000696172|RCV001013331|RCV003409604; | N | MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 254548 | 254548 | | | 5:g.254548G>A | ClinGen:CA16605350 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del) | 6389 | SDHA | Uncertain significance | 1737048556 | RCV001236554; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254554 | 254556 | | | 5:g.254554_254556del | - | | |
NM_004168.4(SDHA):c.1842G>A (p.Gln614=) | 6389 | SDHA | Likely benign | 2126641413 | RCV001398650; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254555 | 254555 | | | 254555 | - | | |
NM_004168.4(SDHA):c.1845G>A (p.Lys615=) | 6389 | SDHA | Likely benign | 1442827207 | RCV001399841|RCV003355456; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254558 | 254558 | | | 254558 | - | | |
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu) | 6389 | SDHA | Uncertain significance | 1453752069 | RCV001051757; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254559 | 254559 | | | 5:g.254559A>G | - | | |
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter) | 6389 | SDHA | Pathogenic | -1 | RCV002877619; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254559 | 254559 | | | NC_000005.9:g.254559A>T | - | | |
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser) | 6389 | SDHA | Uncertain significance | 1199988395 | RCV000560099|RCV003352923; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254562 | 254562 | | | NC_000005.9:g.254562C>T | ClinGen:CA359001942 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu) | 6389 | SDHA | Uncertain significance | 1485754812 | RCV001343849; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254563 | 254563 | | | 254563 | - | | |
NM_004168.4(SDHA):c.1857G>A (p.Glu619=) | 6389 | SDHA | Likely benign | 1247081812 | RCV000536406|RCV002413606; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254570 | 254570 | | | 5:g.254570G>A | ClinGen:CA359001980 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1860G>A (p.Glu620=) | 6389 | SDHA | Likely benign | 1447230295 | RCV001409858|RCV002413973; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254573 | 254573 | | | 254573 | - | | |
NM_004168.4(SDHA):c.1861C>G (p.His621Asp) | 6389 | SDHA | Uncertain significance | 1554002475 | RCV000799620; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254574 | 254574 | | | 5:g.254574C>G | - | | |
NM_004168.4(SDHA):c.1862A>G (p.His621Arg) | 6389 | SDHA | Uncertain significance | 1737050290 | RCV001326946|RCV003346472; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254575 | 254575 | | | 254575 | - | | |
NM_004168.4(SDHA):c.1863C>G (p.His621Gln) | 6389 | SDHA | Uncertain significance | 1554002478 | RCV000548911|RCV002413607|RCV003476310; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 254576 | 254576 | | | 5:g.254576C>G | ClinGen:CA359001997 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1579445179 | RCV000813142|RCV001523817|RCV002462179; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN517202 | 5 | 254579 | 254579 | | | 5:g.254579G>A | - | | |
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg) | 6389 | SDHA | Uncertain significance | 1579445190 | RCV000794154; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254584 | 254584 | | | 5:g.254584A>G | - | | |
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr) | 6389 | SDHA | Uncertain significance | 1554002483 | RCV000524624; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254586 | 254586 | | | 5:g.254586C>T | ClinGen:CA359002059 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1875C>T (p.His625=) | 6389 | SDHA | Likely benign | 1579445214 | RCV001013495|RCV001451921; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254588 | 254588 | | | 5:g.254588C>T | - | | |
NM_004168.4(SDHA):c.1878C>T (p.Thr626=) | 6389 | SDHA | Likely benign | 1579445226 | RCV001472426; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254591 | 254591 | | | 5:g.254591C>T | - | | |
NM_004168.4(SDHA):c.1880dup (p.Ser628fs) | 6389 | SDHA | Uncertain significance | 1579445237 | RCV000801184; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254592 | 254593 | | | 5:g.254592_254593insT | - | | |
NM_004168.4(SDHA):c.1879C>T (p.Leu627=) | 6389 | SDHA | Likely benign | 1169965410 | RCV001460711; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254592 | 254592 | | | 254592 | - | | |
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg) | 6389 | SDHA | Uncertain significance | 1737051659 | RCV001343344|RCV003365348; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254593 | 254593 | | | 254593 | - | | |
NM_004168.4(SDHA):c.1881G>C (p.Leu627=) | 6389 | SDHA | Likely benign | 1390181757 | RCV002075064|RCV002407392; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254594 | 254594 | | | 254594 | - | | |
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 750865703 | RCV000537063|RCV001013539|RCV001555544|RCV003451192|RCV003476311; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 254597 | 254598 | | | NC_000005.9:g.254598dup | ClinGen:CA3173435 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1884C>G (p.Ser628=) | 6389 | SDHA | Likely benign | 1224468457 | RCV001213221|RCV002411786; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254597 | 254597 | | | 5:g.254597C>G | - | | |
NM_004168.4(SDHA):c.1884C>T (p.Ser628=) | 6389 | SDHA | Likely benign | 1224468457 | RCV002133046; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254597 | 254597 | | | 254597 | - | | |
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn) | 6389 | SDHA | Uncertain significance | 1579445293 | RCV000819886; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254598 | 254598 | | | 5:g.254598T>A | - | | |
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) | 6389 | SDHA | Benign/Likely benign | 6960 | RCV000210491|RCV000325852|RCV000243534|RCV000270762|RCV000389777|RCV000492773|RCV001658006|RCV003316164; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254599 | 254599 | | | NC_000005.9:g.254599A>T | ClinGen:CA358567,UniProtKB:P31040#VAR_071037 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser) | 6389 | SDHA | Uncertain significance | 6960 | RCV000649426; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254599 | 254599 | | | 5:g.254599A>C | ClinGen:CA359002158 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys) | 6389 | SDHA | Uncertain significance | 6960 | RCV001013540|RCV001052870|RCV003473570|RCV003159171; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|Me | 5 | 254599 | 254599 | | | 5:g.254599A>G | - | | |
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala) | 6389 | SDHA | Uncertain significance | 1392791825 | RCV000705910|RCV002406647; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254602 | 254602 | | | NC_000005.9:g.254602T>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1890G>C (p.Val630=) | 6389 | SDHA | Likely benign | 1405784467 | RCV001013473|RCV001410466; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254603 | 254603 | | | 5:g.254603G>C | - | | |
NM_004168.4(SDHA):c.1890G>A (p.Val630=) | 6389 | SDHA | Uncertain significance | 1405784467 | RCV002004245; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254603 | 254603 | | | 254603 | - | | |
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn) | 6389 | SDHA | Uncertain significance | 776500078 | RCV001245717; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254604 | 254604 | | | 5:g.254604G>A | - | | |
NM_004168.4(SDHA):c.1893C>T (p.Asp631=) | 6389 | SDHA | Likely benign | 1364764796 | RCV000649482|RCV002406452; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254606 | 254606 | | | NC_000005.9:g.254606C>T | ClinGen:CA359002213 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu) | 6389 | SDHA | Uncertain significance | 1364764796 | RCV001297559; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254606 | 254606 | | | 254606 | - | | |
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 369639811 | RCV000525826|RCV001013519; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254607 | 254607 | | | 5:g.254607G>A | ClinGen:CA3173439 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 369639811 | RCV000575685|RCV000539102|RCV003313101; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900 | 5 | 254607 | 254607 | | | NC_000005.9:g.254607G>T | ClinGen:CA3173438 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala) | 6389 | SDHA | Uncertain significance | 774609159 | RCV000821481|RCV002408982; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254608 | 254608 | | | 5:g.254608T>C | - | | |
NM_004168.4(SDHA):c.1896T>C (p.Val632=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1554002492 | RCV002104278|RCV002480982|RCV002409556; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254609 | 254609 | | | 254609 | - | | |
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 2126641674 | RCV001366404|RCV002413875; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254610 | 254610 | | | 254610 | - | | |
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala) | 6389 | SDHA | Uncertain significance | 1017441235 | RCV000465027|RCV002411519; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254613 | 254613 | | | NC_000005.9:g.254613A>G | ClinGen:CA16612060 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser) | 6389 | SDHA | Uncertain significance | 1017441235 | RCV001064925; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254613 | 254613 | | | 5:g.254613A>T | - | | |
NM_004168.4(SDHA):c.1902T>G (p.Thr634=) | 6389 | SDHA | Likely benign | 2126641691 | RCV001475201; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254615 | 254615 | | | 254615 | - | | |
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg) | 6389 | SDHA | Uncertain significance | 1737055056 | RCV001344337; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254616 | 254616 | | | 254616 | - | | |
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn) | 6389 | SDHA | Uncertain significance | 1244151760 | RCV001326893|RCV002412048; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 254621 | 254621 | | | 254621 | - | | |
NM_004168.4(SDHA):c.1908+2T>C | 6389 | SDHA | Uncertain significance | 1737056056 | RCV001306427; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254623 | 254623 | | | 254623 | - | | |
NM_004168.4(SDHA):c.1908+5G>C | 6389 | SDHA | Uncertain significance | 759574062 | RCV001987657; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 254626 | 254626 | | | 254626 | - | | |
NM_004168.4(SDHA):c.1908+6T>C | 6389 | SDHA | Uncertain significance | 1359050908 | RCV000527847|RCV003476312; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 254627 | 254627 | | | NC_000005.9:g.254627T>C | ClinGen:CA557103331 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1908+8T>G | 6389 | SDHA | Likely benign | 2126641731 | RCV001457829; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254629 | 254629 | | | 254629 | - | | |
NM_004168.4(SDHA):c.1908+9G>A | 6389 | SDHA | Likely benign | 767578208 | RCV000540014; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254630 | 254630 | | | NC_000005.9:g.254630G>A | ClinGen:CA3173442 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1908+10G>A | 6389 | SDHA | Likely benign | 1579445450 | RCV001432294; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254631 | 254631 | | | 5:g.254631G>A | - | | |
NM_004168.4(SDHA):c.1908+15C>T | 6389 | SDHA | Benign/Likely benign | 34504623 | RCV000249299|RCV000294605|RCV000349503|RCV000385355|RCV001812726|RCV003316404|RCV002411119; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165 | 5 | 254636 | 254636 | | | NC_000005.9:g.254636C>T | ClinGen:CA3173444 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.1908+85G>A | 6389 | SDHA | Benign | 6864807 | RCV000987496; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254706 | 254706 | | | 5:g.254706G>A | - | | |
NM_004168.4(SDHA):c.1908+90A>G | 6389 | SDHA | Benign | 6888536 | RCV000987497; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 254711 | 254711 | | | 5:g.254711A>G | - | | |
NM_004168.4(SDHA):c.1909-20C>A | 6389 | SDHA | Likely benign | 1737178548 | RCV002176336; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256429 | 256429 | | | 256429 | - | | |
NM_004168.4(SDHA):c.1909-16_1909-13del | 6389 | SDHA | Likely benign | 2126645630 | RCV002076539; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256430 | 256433 | | | 256429 | - | | |
NM_004168.4(SDHA):c.1909-18C>T | 6389 | SDHA | Likely benign | 781153748 | RCV002182871; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256431 | 256431 | | | 256431 | - | | |
NM_004168.4(SDHA):c.1909-16G>A | 6389 | SDHA | Likely benign | -1 | RCV002857604; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256433 | 256433 | | | NC_000005.9:g.256433G>A | - | | |
NM_004168.4(SDHA):c.1909-15A>C | 6389 | SDHA | Likely benign | 1189118840 | RCV002187315; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256434 | 256434 | | | 256434 | - | | |
NM_004168.4(SDHA):c.1909-15A>G | 6389 | SDHA | Likely benign | -1 | RCV003085917; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256434 | 256434 | | | NC_000005.9:g.256434A>G | - | | |
NM_004168.4(SDHA):c.1909-12_1909-11del | 6389 | SDHA | Conflicting interpretations of pathogenicity | 372662724 | RCV000281629|RCV000337728|RCV000394391|RCV000483037|RCV000492532|RCV001354980|RCV002061279; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:001 | 5 | 256435 | 256436 | | | NC_000005.9:g.256435CT[1] | ClinGen:CA3173456 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1909-9_1909-7del | 6389 | SDHA | Likely benign | -1 | RCV002632732; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256436 | 256438 | | | NC_000005.9:g.256437CTT[1] | - | | |
NM_004168.4(SDHA):c.1909-8_1909-4del | 6389 | SDHA | Uncertain significance | 1737179400 | RCV001238891; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256438 | 256442 | | | 5:g.256438_256442del | - | | |
NM_004168.4(SDHA):c.1909-11T>G | 6389 | SDHA | Likely benign | 2126645679 | RCV002177144; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256438 | 256438 | | | 256438 | - | | |
NM_004168.4(SDHA):c.1909-9C>T | 6389 | SDHA | Likely benign | 2126645687 | RCV001443345; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256440 | 256440 | | | 256440 | - | | |
NM_004168.4(SDHA):c.1909-9C>G | 6389 | SDHA | Likely benign | -1 | RCV002584357; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256440 | 256440 | | | NC_000005.9:g.256440C>G | - | | |
NM_004168.4(SDHA):c.1909-6T>C | 6389 | SDHA | Likely benign | -1 | RCV002857334; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256443 | 256443 | | | NC_000005.9:g.256443T>C | - | | |
NM_004168.4(SDHA):c.1909-5T>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1197849830 | RCV001067730|RCV002411598; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256444 | 256444 | | | 5:g.256444T>C | - | | |
NM_004168.4(SDHA):c.1909-5T>G | 6389 | SDHA | Uncertain significance | 1197849830 | RCV002042725; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256444 | 256444 | | | 256444 | - | | |
NM_004168.4(SDHA):c.1909-3A>G | 6389 | SDHA | Uncertain significance | -1 | RCV002408408|RCV003100928; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256446 | 256446 | | | 256446 | - | | |
NM_004168.4(SDHA):c.1909-2A>G | 6389 | SDHA | Conflicting interpretations of pathogenicity | 747939816 | RCV000565006|RCV000692849; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256447 | 256447 | | | 5:g.256447A>G | ClinGen:CA3173457 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1909-1G>A | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1159597886 | RCV000574361|RCV001203781; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256448 | 256448 | | | 5:g.256448G>A | ClinGen:CA359002550 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile) | 6389 | SDHA | Uncertain significance | 769599373 | RCV000792459|RCV003166093; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256449 | 256449 | | | 5:g.256449G>A | - | | |
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala) | 6389 | SDHA | Uncertain significance | 1737179959 | RCV001346382|RCV002412089; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256450 | 256450 | | | 256450 | - | | |
NM_004168.4(SDHA):c.1911C>T (p.Val637=) | 6389 | SDHA | Benign/Likely benign | 11557098 | RCV000210496|RCV000343504|RCV000298002|RCV000402055|RCV000426571|RCV000564874|RCV001579978|RCV003316167; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100 | 5 | 256451 | 256451 | | | NC_000005.9:g.256451C>T | ClinGen:CA358569 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1913del (p.Thr638fs) | 6389 | SDHA | Uncertain significance | 1554002857 | RCV000649411; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256453 | 256453 | | | NC_000005.9:g.256453del | ClinGen:CA658796494 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile) | 6389 | SDHA | Uncertain significance | 370133236 | RCV000812350|RCV001013675; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256453 | 256453 | | | 5:g.256453C>T | - | | |
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser) | 6389 | SDHA | Uncertain significance | 370133236 | RCV002042621; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256453 | 256453 | | | 256453 | - | | |
NM_004168.4(SDHA):c.1914T>C (p.Thr638=) | 6389 | SDHA | Likely benign | 2126645757 | RCV001476197|RCV002414151; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256454 | 256454 | | | 256454 | - | | |
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val) | 6389 | SDHA | Uncertain significance | 1126697 | RCV000552499|RCV000563708|RCV002509436; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900 | 5 | 256455 | 256455 | | | NC_000005.9:g.256455C>G | ClinGen:CA3173460 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 372480044 | RCV000239361|RCV000574591|RCV000663177|RCV000765835|RCV000836807; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072| | 5 | 256459 | 256459 | | | NC_000005.9:g.256459A>G | ClinGen:CA3173461 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1920A>G (p.Glu640=) | 6389 | SDHA | Likely benign | 2126645771 | RCV001407237|RCV002413965; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256460 | 256460 | | | 256460 | - | | |
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys) | 6389 | SDHA | Uncertain significance | -1 | RCV003092637; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256462 | 256462 | | | NC_000005.9:g.256462A>G | - | | |
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=) | 6389 | SDHA | Likely benign | 1444319863 | RCV000533337|RCV000571470; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256463 | 256463 | | | NC_000005.9:g.256463T>C | ClinGen:CA359002659 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1926A>G (p.Arg642=) | 6389 | SDHA | Likely benign | 1554002873 | RCV000545820|RCV002413609; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256466 | 256466 | | | NC_000005.9:g.256466A>G | ClinGen:CA359002684 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser) | 6389 | SDHA | Uncertain significance | 1579448568 | RCV000817037|RCV002406866; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256467 | 256467 | | | 5:g.256467C>T | - | | |
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr) | 6389 | SDHA | Uncertain significance | 1579448568 | RCV001229948|RCV002411846; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256467 | 256467 | | | 5:g.256467C>A | - | | |
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) | 6389 | SDHA | Uncertain significance | 1060503717 | RCV000459590|RCV002475894|RCV003168871; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:01002 | 5 | 256468 | 256468 | | | NC_000005.9:g.256468C>G | ClinGen:CA16612063 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1929C>T (p.Pro643=) | 6389 | SDHA | Likely benign | 761201589 | RCV000552289|RCV000562383; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256469 | 256469 | | | NC_000005.9:g.256469C>T | ClinGen:CA3173462 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1930G>A (p.Val644Met) | 6389 | SDHA | Uncertain significance | 3211483 | RCV000475448|RCV000662992|RCV002251478|RCV002411517|RCV003401494|RCV003476126; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, | 5 | 256470 | 256470 | | | NC_000005.9:g.256470G>A | ClinGen:CA3173463 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly) | 6389 | SDHA | Uncertain significance | -1 | RCV002706539; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256471 | 256471 | | | NC_000005.9:g.256471T>G | - | | |
NM_004168.4(SDHA):c.1932G>A (p.Val644=) | 6389 | SDHA | Benign | 6961 | RCV000118316|RCV000162483|RCV000273207|RCV000303618|RCV000358445|RCV001513599|RCV001705859|RCV003315680; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320 | 5 | 256472 | 256472 | | | 5:g.256472G>A | ClinGen:CA155150 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr) | 6389 | SDHA | Uncertain significance | 1282623859 | RCV000685210|RCV002406529|RCV003472184; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154 | 5 | 256474 | 256474 | | | 5:g.256474T>C | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1935C>T (p.Ile645=) | 6389 | SDHA | Likely benign | 762128553 | RCV000532848|RCV001013766; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256475 | 256475 | | | NC_000005.9:g.256475C>T | ClinGen:CA3173464 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met) | 6389 | SDHA | Uncertain significance | 762128553 | RCV000693481|RCV002406585; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256475 | 256475 | | | 5:g.256475C>G | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1935C>A (p.Ile645=) | 6389 | SDHA | Likely benign | 762128553 | RCV001461792|RCV002414111; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256475 | 256475 | | | 256475 | - | | |
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn) | 6389 | SDHA | Uncertain significance | 376986935 | RCV000686417|RCV002254942|RCV002406538; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256476 | 256476 | | | NC_000005.9:g.256476G>A | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg) | 6389 | SDHA | Uncertain significance | 1737186768 | RCV001232477; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256480 | 256480 | | | 5:g.256480A>G | - | | |
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro) | 6389 | SDHA | Uncertain significance | 758054627 | RCV000460218|RCV000570413; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256482 | 256482 | | | NC_000005.9:g.256482A>C | ClinGen:CA3173467 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser) | 6389 | SDHA | Uncertain significance | 1420345359 | RCV000545606|RCV002413610; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256483 | 256483 | | | NC_000005.9:g.256483C>G | ClinGen:CA359002836 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1943del (p.Thr648fs) | 6389 | SDHA | Uncertain significance | 2126645882 | RCV001961342; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256483 | 256483 | | | 256482 | - | | |
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) | 6389 | SDHA | Uncertain significance | 112307877 | RCV001197787|RCV001528748|RCV003339530; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256484 | 256485 | | | 5:g.256484_256485del | - | | |
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val) | 6389 | SDHA | Uncertain significance | 1737187966 | RCV001351552|RCV002413833; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256485 | 256485 | | | 256485 | - | | |
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp) | 6389 | SDHA | Uncertain significance | 899598021 | RCV001366168|RCV003284274; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256486 | 256486 | | | 256486 | - | | |
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser) | 6389 | SDHA | Uncertain significance | 1485747007 | RCV000794100|RCV002406734|RCV002487656; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M | 5 | 256489 | 256489 | | | 5:g.256489A>G | - | | |
NM_004168.4(SDHA):c.1950C>T (p.Asn650=) | 6389 | SDHA | Likely benign | 1042430 | RCV000473028|RCV001013725; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256490 | 256490 | | | NC_000005.9:g.256490C>T | ClinGen:CA3173469 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys) | 6389 | SDHA | Uncertain significance | 375396913 | RCV000204436|RCV001013731|RCV003441788|RCV003474987; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642 | 5 | 256491 | 256491 | | | NC_000005.9:g.256491G>A | ClinGen:CA348665 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) | 6389 | SDHA | Uncertain significance | 375396913 | RCV000662705|RCV000793459|RCV002422447; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256491 | 256491 | | | NC_000005.9:g.256491G>C | - | C3279992 614165 Paragangliomas 5; | |
NM_004168.4(SDHA):c.1951del (p.Glu651fs) | 6389 | SDHA | Uncertain significance | 1561016316 | RCV000698069; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256491 | 256491 | | | NC_000005.9:g.256491del | - | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly) | 6389 | SDHA | Uncertain significance | 1737189246 | RCV001246366; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256492 | 256492 | | | 5:g.256492A>G | - | | |
NM_004168.4(SDHA):c.1953G>A (p.Glu651=) | 6389 | SDHA | Likely benign | 1579448683 | RCV001013825|RCV002068877; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256493 | 256493 | | | 5:g.256493G>A | - | | |
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp) | 6389 | SDHA | Uncertain significance | 1579448683 | RCV002027753|RCV002423281; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256493 | 256493 | | | 256493 | - | | |
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr) | 6389 | SDHA | Uncertain significance | 1737189728 | RCV001040638; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256494 | 256494 | | | 5:g.256494G>A | - | | |
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val) | 6389 | SDHA | Uncertain significance | 1554002888 | RCV000566977|RCV000688050; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256495 | 256495 | | | 5:g.256495C>T | ClinGen:CA359002953 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val) | 6389 | SDHA | Uncertain significance | 1737190360 | RCV001227009; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256498 | 256498 | | | 5:g.256498A>T | - | | |
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala) | 6389 | SDHA | Uncertain significance | 1737190360 | RCV001366085; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256498 | 256498 | | | 256498 | - | | |
NM_004168.4(SDHA):c.1959C>T (p.Asp653=) | 6389 | SDHA | Likely benign | -1 | RCV002421678|RCV003097389; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256499 | 256499 | | | | - | | |
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly) | 6389 | SDHA | Uncertain significance | 60587941 | RCV000649402|RCV003162970; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256500 | 256500 | | | 5:g.256500T>G | ClinGen:CA112784567 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs) | 6389 | SDHA | Uncertain significance | 2126645995 | RCV001965962; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256500 | 256501 | | | 256499 | - | | |
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser) | 6389 | SDHA | Uncertain significance | -1 | RCV002421741|RCV003097391; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256500 | 256500 | | | 256500 | - | | |
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser) | 6389 | SDHA | Uncertain significance | 1554002895 | RCV000649429|RCV001013863; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256501 | 256501 | | | 5:g.256501G>C | ClinGen:CA359003005 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro) | 6389 | SDHA | Uncertain significance | -1 | RCV002913898; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256503 | 256503 | | | NC_000005.9:g.256503G>C | - | | |
NM_004168.4(SDHA):c.1968C>T (p.Thr656=) | 6389 | SDHA | Likely benign | 3211499 | RCV000557985|RCV003431100|RCV002256389; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256508 | 256508 | | | 5:g.256508C>T | ClinGen:CA3173472 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) | 6389 | SDHA | Benign | 6962 | RCV000118317|RCV000162484|RCV000269248|RCV000309260|RCV000363917|RCV001513600|RCV001705860|RCV003315681; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:2907 | 5 | 256509 | 256509 | | | 5:g.256509G>A | ClinGen:CA155152,UniProtKB:P31040#VAR_049217 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) | 6389 | SDHA | Uncertain significance | 6962 | RCV001153726|RCV001156338|RCV001156339; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072 | 5 | 256509 | 256509 | | | 5:g.256509G>C | - | | |
NM_004168.4(SDHA):c.1971C>T (p.Val657=) | 6389 | SDHA | Likely benign | 746083858 | RCV000463658|RCV000573225|RCV000615882; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 256511 | 256511 | | | NC_000005.9:g.256511C>T | ClinGen:CA3173474 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr) | 6389 | SDHA | Uncertain significance | 2126646066 | RCV001975339; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256512 | 256512 | | | 256512 | - | | |
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 377632619 | RCV000217918|RCV000275247|RCV000333745|RCV000388419|RCV000649461|RCV000765836|RCV001775682|RCV001818525; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:01 | 5 | 256513 | 256513 | | | 5:g.256513C>T | ClinGen:CA3173475 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) | 6389 | SDHA | Benign/Likely benign | 1042446 | RCV000239372|RCV000427231|RCV000568815|RCV001156341|RCV001156342|RCV001156340|RCV001722281; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011 | 5 | 256514 | 256514 | | | NC_000005.9:g.256514G>C | ClinGen:CA3173476 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1974G>A (p.Pro658=) | 6389 | SDHA | Likely benign | 1042446 | RCV000565278|RCV000827097|RCV001080610; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256514 | 256514 | | | NC_000005.9:g.256514G>A | ClinGen:CA3173477 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1974G>T (p.Pro658=) | 6389 | SDHA | Likely benign | 1042446 | RCV001489218|RCV002416227; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256514 | 256514 | | | 5:g.256514G>T | - | | |
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 768693502 | RCV001013815|RCV000887554|RCV001158014|RCV001158015|RCV001158016; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO: | 5 | 256517 | 256517 | | | 5:g.256517A>G | - | | |
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr) | 6389 | SDHA | Uncertain significance | 1554002911 | RCV000649433|RCV002422381; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256518 | 256518 | | | 5:g.256518G>A | ClinGen:CA359003135 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 191412461 | RCV000227636|RCV000409751|RCV000563763|RCV000998351|RCV001158018|RCV001158017|RCV001158019|RCV003401176; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162| | 5 | 256519 | 256519 | | | 5:g.256519C>G | ClinGen:CA3173479 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val) | 6389 | SDHA | Uncertain significance | 191412461 | RCV000813379; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256519 | 256519 | | | 5:g.256519C>T | - | | |
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys) | 6389 | SDHA | Conflicting interpretations of pathogenicity | 1737195067 | RCV001078147|RCV001224277|RCV001759641|RCV002415972; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O | 5 | 256524 | 256524 | | | 5:g.256524C>T | - | | |
NM_004168.4(SDHA):c.1986C>G (p.Arg662=) | 6389 | SDHA | Likely benign | 762372686 | RCV001492306; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256526 | 256526 | | | 256526 | - | | |
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) | 6389 | SDHA | Uncertain significance | 1060503719 | RCV000477211|RCV000574185; | N | MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 256528 | 256528 | | | NC_000005.9:g.256528C>T | ClinGen:CA16611849 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_004168.4(SDHA):c.1989C>T (p.Ser663=) | 6389 | SDHA | Likely benign | 1554002913 | RCV000649464; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256529 | 256529 | | | 5:g.256529C>T | ClinGen:CA442659766 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_004168.4(SDHA):c.1989C>G (p.Ser663=) | 6389 | SDHA | Likely benign | 1554002913 | RCV000979776; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072 | 5 | 256529 | 256529 | | | 5:g.256529C>G | - | | |
NM_004168.4(SDHA):c.*75A>G | 6389 | SDHA | Uncertain significance | 886060517 | RCV000279520|RCV000330444|RCV000375689; | N | MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 256610 | 256610 | | | NC_000005.9:g.256610A>G | ClinGen:CA10624441 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.*102G>A | 6389 | SDHA | Uncertain significance | 1009017730 | RCV001152539|RCV001152540|RCV001152541; | N | MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 256637 | 256637 | | | 5:g.256637G>A | - | | |
NM_004168.4(SDHA):c.*133G>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 193112615 | RCV000285270|RCV000334630|RCV000379866; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 5 | 256668 | 256668 | | | NC_000005.9:g.256668G>C | ClinGen:CA10624444 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.*179G>A | 6389 | SDHA | Uncertain significance | 980815395 | RCV001152542|RCV001153826|RCV001153827|RCV002480550; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:003100 | 5 | 256714 | 256714 | | | 5:g.256714G>A | - | | |
NM_004168.4(SDHA):c.*189C>T | 6389 | SDHA | Uncertain significance | 185107377 | RCV000309761|RCV000340216|RCV000396725; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072 | 5 | 256724 | 256724 | | | NC_000005.9:g.256724C>T | ClinGen:CA10624327 | C0023264 256000 Leigh syndrome; | |
NM_004168.4(SDHA):c.*249T>C | 6389 | SDHA | Conflicting interpretations of pathogenicity | 189989110 | RCV001153828|RCV001153829|RCV001153830; | N | MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 256784 | 256784 | | | 5:g.256784T>C | - | | |
NM_001042631.3(SDHAF1):c.-64C>G | 644096 | SDHAF1 | Uncertain significance | 886054354 | RCV000350401; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486113 | 36486113 | | | NC_000019.9:g.36486113C>G | ClinGen:CA10642654 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_001042631.3(SDHAF1):c.3G>A (p.Met1Ile) | 644096 | SDHAF1 | Uncertain significance | 1976651034 | RCV001122156; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486179 | 36486179 | | | 19:g.36486179G>A | - | | |
NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro) | 644096 | SDHAF1 | Uncertain significance | 1599670818 | RCV000852381; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486205 | 36486205 | | | 19:g.36486205A>C | - | | |
NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys) | 644096 | SDHAF1 | Uncertain significance | 777257006 | RCV001122157|RCV003246705; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MeSH:D030342,MedGen:C0950123 | 19 | 36486222 | 36486222 | | | 19:g.36486222C>T | - | | |
NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn) | 644096 | SDHAF1 | Uncertain significance | 538225779 | RCV001122158; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486225 | 36486225 | | | 19:g.36486225G>A | - | | |
NM_001042631.3(SDHAF1):c.117T>C (p.His39=) | 644096 | SDHAF1 | Uncertain significance | 754546603 | RCV001124925; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486293 | 36486293 | | | 19:g.36486293T>C | - | | |
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) | 644096 | SDHAF1 | Conflicting interpretations of pathogenicity | 768768823 | RCV000304255|RCV001332725|RCV002272202; | N | MedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0030935,MedGen:C5436933,OMIM:619166 | 19 | 36486332 | 36486332 | | | 19:g.36486332C>A | ClinGen:CA9393678 | CN517202 not provided; | |
NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser) | 644096 | SDHAF1 | Uncertain significance | 956984428 | RCV001291676; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486495 | 36486495 | | | 36486495 | - | | |
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) | 644096 | SDHAF1 | Benign/Likely benign | 76336581 | RCV000173197|RCV000403258|RCV000676630; | N | MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900 | 19 | 36486509 | 36486509 | | | NC_000019.9:g.36486509C>G | ClinGen:CA302686 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser) | 644096 | SDHAF1 | Conflicting interpretations of pathogenicity | 78119534 | RCV000128020|RCV000996848|RCV001124926; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486510 | 36486510 | | | 19:g.36486510C>T | ClinGen:CA293458 | CN169374 not specified; | |
NM_001042631.3(SDHAF1):c.*5C>A | 644096 | SDHAF1 | Uncertain significance | 1234271175 | RCV001335598; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486529 | 36486529 | | | 36486529 | - | | |
NM_001042631.3(SDHAF1):c.*66G>A | 644096 | SDHAF1 | Uncertain significance | 1976659752 | RCV001124927; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486590 | 36486590 | | | 19:g.36486590G>A | - | | |
NM_001042631.3(SDHAF1):c.*156G>T | 644096 | SDHAF1 | Benign/Likely benign | 115204084 | RCV000301279|RCV001643024; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900 | 19 | 36486680 | 36486680 | | | NC_000019.9:g.36486680G>T | ClinGen:CA10648565 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_001042631.3(SDHAF1):c.*229C>T | 644096 | SDHAF1 | Conflicting interpretations of pathogenicity | 144661239 | RCV001124928|RCV001574400; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900 | 19 | 36486753 | 36486753 | | | 19:g.36486753C>T | - | | |
NM_001042631.3(SDHAF1):c.*248C>T | 644096 | SDHAF1 | Uncertain significance | 552373950 | RCV001124929; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486772 | 36486772 | | | 19:g.36486772C>T | - | | |
NM_001042631.3(SDHAF1):c.*323C>G | 644096 | SDHAF1 | Uncertain significance | 757546678 | RCV001125898; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486847 | 36486847 | | | 19:g.36486847C>G | - | | |
NM_001042631.3(SDHAF1):c.*327C>A | 644096 | SDHAF1 | Uncertain significance | 1252756289 | RCV001125899; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486851 | 36486851 | | | 19:g.36486851C>A | - | | |
NM_001042631.3(SDHAF1):c.*329G>C | 644096 | SDHAF1 | Uncertain significance | 886054355 | RCV000356291; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36486853 | 36486853 | | | NC_000019.9:g.36486853G>C | ClinGen:CA10648566 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_001042631.3(SDHAF1):c.*622A>G | 644096 | SDHAF1 | Benign | 7925 | RCV000261418; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36487146 | 36487146 | | | NC_000019.9:g.36487146A>G | ClinGen:CA10642655 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_001042631.3(SDHAF1):c.*682A>T | 644096 | SDHAF1 | Uncertain significance | 554739627 | RCV000298005; | N | MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208 | 19 | 36487206 | 36487206 | | | NC_000019.9:g.36487206A>T | ClinGen:CA10652385 | C1855008 252011 Mitochondrial complex II deficiency; | |
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) | 6392 | SDHD | Pathogenic/Likely pathogenic | 202198133 | RCV000144171|RCV000484125|RCV001290090|RCV002415627|RCV002515941; | N | MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen | 11 | 111959626 | 111959626 | | | NC_000011.9:g.111959626G>A | ClinGen:CA016681,UniProtKB:O14521#VAR_074105,OMIM:602690.0029 | C3554516 Cowden syndrome 3; | |
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) | 6392 | SDHD | Uncertain significance | 199869408 | RCV000455598|RCV000760070|RCV000764954|RCV001020081|RCV002229661; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:00026 | 11 | 111965549 | 111965549 | | | NC_000011.9:g.111965549C>T | ClinGen:CA071254 | C3554516 Cowden syndrome 3; | |
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) | 6392 | SDHD | Uncertain significance | 1394514096 | RCV000764955|RCV000986023|RCV002233358|RCV003165869; | N | MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0 | 11 | 111965635 | 111965635 | | | 11:g.111965635T>C | - | C3554516 Cowden syndrome 3; | |