PUBMED | AlleleID | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | Disease_ClinVar | PhenotypeIDs | PhenotypeList | RCVaccession | dbSNP | Chromosome | Start | Stop | HGVS_g | HGVS_c | HGVS_p | OtherIDs | TestedInGTR | LastEvaluated | ReviewStatus | NumberSubmitters | 1. Pubmed: 25741868, 14729820 Pubtator: 25741868 14729820 | 21058 | NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) | 4722 | NDUFS3 | Pathogenic/Likely pathogenic | C1838951 Leigh syndrome due to mitochondrial complex I deficiency; | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|Human Phenotype Ontology:HP:0012758,MedGen:C4022738 | Mitochondrial complex 1 deficiency, nuclear type 8|Neurodevelopmental delay | RCV000006390|RCV002273921; | 28939714 | 11 | 47603692 | 47603692 | 11:g.47603692C>T | | | ClinGen:CA117915,OMIM:603846.0001 | N | Jan 23, 2019 | criteria provided, multiple submitters, no conflicts | 3 | |
2. Pubmed: 30140060, 25741868, 22499348, 14729820 Pubtator: 30140060 25741868 22499348 14729820 | 21059 | NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) | 4722 | NDUFS3 | Likely pathogenic | C1838951 Leigh syndrome due to mitochondrial complex I deficiency; | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | Mitochondrial complex 1 deficiency, nuclear type 8 | RCV000006391; | 104894270 | 11 | 47603988 | 47603988 | 11:g.47603988C>T | | | ClinGen:CA117917,OMIM:603846.0002 | N | Jan 23, 2019 | criteria provided, single submitter | 2 | |
3. Pubmed: Pubtator: | 328025 | NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374 | Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not specified | RCV000301677|RCV000358793|RCV000616791; | 770306617 | 11 | 47600844 | 47600844 | 11:g.47600844T>C | | | ClinGen:CA5977804 | N | Jan 13, 2018 | criteria provided, conflicting interpretations | 2 | |
4. Pubmed: 28492532 Pubtator: 28492532 | 211538 | NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900 | Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not provided | RCV000274500|RCV000331648|RCV000884571; | 148331180 | 11 | 47603733 | 47603733 | NC_000011.9:g.47603733G>C | | | ClinGen:CA320767 | N | Sep 01, 2023 | criteria provided, conflicting interpretations | 5 | |
5. Pubmed: 28492532 Pubtator: 28492532 | 142194 | NM_004551.3(NDUFS3):c.628-7C>T | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | C0023264 256000 Leigh syndrome; | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Mitochondrial complex 1 deficiency, nuclear type 8 | RCV000127156|RCV000292090|RCV000383892|RCV000964320|RCV003114278; | 11039306 | 11 | 47605859 | 47605859 | NC_000011.9:g.47605859C>T | | | ClinGen:CA292504 | N | Sep 21, 2022 | criteria provided, conflicting interpretations | 5 | |
6. Pubmed: Pubtator: | 326970 | NM_004551.3(NDUFS3):c.657G>A (p.Val219=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided | RCV000325919|RCV000382544|RCV002056209; | 377323760 | 11 | 47605895 | 47605895 | NC_000011.9:g.47605895G>A | | | ClinGen:CA5978068 | N | Oct 05, 2022 | criteria provided, conflicting interpretations | 2 | |
7. Pubmed: 28492532 Pubtator: 28492532 | 320906 | NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided | RCV000284678|RCV000406732|RCV000939941; | 117981655 | 11 | 47606021 | 47606021 | NC_000011.9:g.47606021T>C | | | ClinGen:CA5978099 | N | Oct 19, 2022 | criteria provided, conflicting interpretations | 3 | |
8. Pubmed: Pubtator: | 314314 | NM_004551.2(NDUFS3):c.-41T>C | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609 | Leigh syndrome|Mitochondrial complex I deficiency | RCV000290487|RCV000347926; | 750965789 | 11 | 47600603 | 47600603 | NC_000011.9:g.47600603T>C | | | ClinGen:CA5977754 | N | Jun 14, 2016 | criteria provided, single submitter | 1 | |
9. Pubmed: Pubtator: | 314316 | NM_004551.2(NDUFS3):c.-30C>T | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | Mitochondrial complex I deficiency|Leigh syndrome | RCV000308294|RCV000392871; | 375483884 | 11 | 47600614 | 47600614 | 11:g.47600614C>T | | | ClinGen:CA5977757 | N | Jun 14, 2016 | criteria provided, single submitter | 1 | |
10. Pubmed: Pubtator: | 211536 | NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Inborn genetic diseases | RCV000342182|RCV000403906|RCV002517241|RCV002515416; | 368907187 | 11 | 47600832 | 47600832 | NC_000011.9:g.47600832C>T | | | ClinGen:CA321939 | N | Apr 14, 2023 | criteria provided, multiple submitters, no conflicts | 4 | |
11. Pubmed: Pubtator: | 314319 | NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1 | RCV000261687|RCV000300392; | 886048391 | 11 | 47602133 | 47602133 | 11:g.47602133T>C | | | ClinGen:CA10631038 | N | Jan 13, 2018 | criteria provided, single submitter | 1 | |
12. Pubmed: 25741868 Pubtator: 25741868 | 275552 | NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609 | Leigh syndrome;Mitochondrial complex I deficiency | RCV000293525; | 886044765 | 11 | 47602147 | 47602147 | 11:g.47602147C>G | | | ClinGen:CA10607103 | N | Nov 21, 2016 | criteria provided, single submitter | 1 | |
13. Pubmed: Pubtator: | 320898 | NM_004551.3(NDUFS3):c.381+5G>T | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome | RCV000261462|RCV000352949; | 886048392 | 11 | 47602541 | 47602541 | 11:g.47602541G>T | | | ClinGen:CA10635057 | N | Jan 13, 2018 | criteria provided, single submitter | 1 | |
14. Pubmed: Pubtator: | 320904 | NM_004551.3(NDUFS3):c.381+6T>C | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 8|not provided | RCV000332963|RCV000389911|RCV001374465|RCV001859811; | 377579231 | 11 | 47602542 | 47602542 | 11:g.47602542T>C | | | ClinGen:CA5977940,OMIM:603846.0004 | N | Jan 23, 2022 | criteria provided, multiple submitters, no conflicts | 4 | |
15. Pubmed: Pubtator: | 328026 | NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) | 4722 | NDUFS3 | Uncertain significance | C0023264 256000 Leigh syndrome; | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Inborn genetic diseases | RCV000285816|RCV000342978|RCV002520728; | 752314902 | 11 | 47605991 | 47605991 | NC_000011.9:g.47605991T>G | | | ClinGen:CA5978093 | N | Aug 02, 2021 | criteria provided, multiple submitters, no conflicts | 2 | |
16. Pubmed: Pubtator: | 2247495 | NM_004551.3(NDUFS3):c.49dup (p.Ala17fs) | 4722 | NDUFS3 | Pathogenic | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV002788118; | -1 | 11 | 47600687 | 47600688 | NC_000011.9:g.47600692dup | | | - | N | Dec 07, 2021 | criteria provided, single submitter | 1 | |
17. Pubmed: Pubtator: | 1692504 | NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs) | 4722 | NDUFS3 | Pathogenic | | Human Phenotype Ontology:HP:0012758,MedGen:C4022738 | Neurodevelopmental delay | RCV002274357; | 2153795389 | 11 | 47603728 | 47603729 | 47603727 | | | - | N | - | criteria provided, single submitter | 1 | |
18. Pubmed: Pubtator: | 211539 | NM_004551.3(NDUFS3):c.568_569del (p.Asp190fs) | 4722 | NDUFS3 | Pathogenic | CN517202 not provided; | MedGen:CN517202 | not provided | RCV000200329; | 863224107 | 11 | 47603960 | 47603961 | NC_000011.9:g.47603961_47603962del | | | ClinGen:CA324884 | N | May 02, 2012 | criteria provided, single submitter | 1 | |
19. Pubmed: Pubtator: | 211535 | NM_004551.3(NDUFS3):c.2T>G (p.Met1Arg) | 4722 | NDUFS3 | Likely pathogenic | | MedGen:CN517202 | not provided | RCV000196482; | 863224106 | 11 | 47600645 | 47600645 | NC_000011.9:g.47600645T>G | | | ClinGen:CA320898 | N | Jul 18, 2019 | criteria provided, single submitter | 1 | |
20. Pubmed: Pubtator: | 2219306 | NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile) | 4722 | NDUFS3 | Likely pathogenic | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV002712332; | -1 | 11 | 47600646 | 47600646 | NC_000011.9:g.47600646G>C | | | - | N | Dec 31, 2020 | criteria provided, single submitter | 1 | |
21. Pubmed: Pubtator: | 2404922 | NM_004551.3(NDUFS3):c.382-1del | 4722 | NDUFS3 | Likely pathogenic | | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | Mitochondrial complex 1 deficiency, nuclear type 8 | RCV003140471; | -1 | 11 | 47603639 | 47603639 | NC_000011.9:g.47603639del | | | - | N | Sep 16, 2022 | criteria provided, single submitter | 1 | |
22. Pubmed: Pubtator: | 211537 | NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | CN169374 not specified; | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not provided | RCV000200026|RCV001105706|RCV001105707|RCV002515417; | 141187412 | 11 | 47600876 | 47600876 | NC_000011.9:g.47600876C>T | | | ClinGen:CA324576 | N | Sep 30, 2022 | criteria provided, conflicting interpretations | 3 | |
23. Pubmed: 25741868 Pubtator: 25741868 | 408382 | NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | CN517202 not provided; | MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | not provided|Mitochondrial complex I deficiency|Mitochondrial complex 1 deficiency, nuclear type 8 | RCV000479127|RCV000853270|RCV001823140; | 138867882 | 11 | 47602529 | 47602529 | 11:g.47602529G>A | | | ClinGen:CA5977938 | N | Jun 09, 2022 | criteria provided, conflicting interpretations | 4 | |
24. Pubmed: 28492532 Pubtator: 28492532 | 142193 | NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | CN169374 not specified; | MedGen:CN169374|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | not specified|Mitochondrial complex 1 deficiency, nuclear type 8|not provided|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome | RCV000127155|RCV001000472|RCV000969794|RCV001107482|RCV001107483; | 77113494 | 11 | 47603984 | 47603984 | 11:g.47603984T>C | | | ClinGen:CA292502 | N | May 01, 2023 | criteria provided, conflicting interpretations | 7 | |
25. Pubmed: Pubtator: | 503671 | NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | CN169374 not specified; | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900 | not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not provided | RCV000614898|RCV001103853|RCV001103854|RCV002531615; | 3740654 | 11 | 47605985 | 47605985 | 11:g.47605985G>A | | | ClinGen:CA5978089 | N | Jan 17, 2022 | criteria provided, conflicting interpretations | 3 | |
26. Pubmed: 28492532 Pubtator: 28492532 | 752699 | NM_004551.3(NDUFS3):c.21C>T (p.Ala7=) | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV000926088; | 369751345 | 11 | 47600664 | 47600664 | 11:g.47600664C>T | | | - | N | Jul 12, 2022 | criteria provided, single submitter | 1 | |
27. Pubmed: Pubtator: | 2476490 | NM_004551.3(NDUFS3):c.39G>T (p.Gly13=) | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV003222722; | -1 | 11 | 47600682 | 47600682 | | | | - | N | Mar 01, 2023 | criteria provided, single submitter | 1 | |
28. Pubmed: 28492532 Pubtator: 28492532 | 738018 | NM_004551.3(NDUFS3):c.65G>A (p.Arg22Lys) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV000904288; | 752752534 | 11 | 47600708 | 47600708 | 11:g.47600708G>A | | | - | N | Oct 20, 2022 | criteria provided, single submitter | 1 | |
29. Pubmed: Pubtator: | 1585646 | NM_004551.3(NDUFS3):c.68-5T>C | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV002155569; | 756129709 | 11 | 47600816 | 47600816 | 47600816 | | | - | N | Dec 03, 2021 | criteria provided, single submitter | 1 | |
30. Pubmed: Pubtator: | 1960840 | NM_004551.3(NDUFS3):c.81C>T (p.Pro27=) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV002576983; | -1 | 11 | 47600834 | 47600834 | | | | - | N | Jul 30, 2022 | criteria provided, single submitter | 1 | |
31. Pubmed: 28492532 Pubtator: 28492532 | 609788 | NM_004551.3(NDUFS3):c.99G>T (p.Pro33=) | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV000757549; | 148226917 | 11 | 47600852 | 47600852 | NC_000011.9:g.47600852G>T | | | - | N | Oct 17, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
32. Pubmed: Pubtator: | 1956814 | NM_004551.3(NDUFS3):c.133+12C>T | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV002570958; | -1 | 11 | 47600898 | 47600898 | NC_000011.9:g.47600898C>T | | | - | N | Aug 23, 2022 | criteria provided, single submitter | 1 | |
33. Pubmed: Pubtator: | 1191236 | NM_004551.3(NDUFS3):c.133+176T>C | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV001568166; | 2233352 | 11 | 47601062 | 47601062 | 47601062 | | | - | N | Jul 15, 2018 | criteria provided, single submitter | 1 | |
34. Pubmed: Pubtator: | 1191237 | NM_004551.3(NDUFS3):c.134-28C>T | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV001568047; | 2233355 | 11 | 47602049 | 47602049 | 47602049 | | | - | N | Jan 16, 2020 | criteria provided, single submitter | 1 | |
35. Pubmed: Pubtator: | 503297 | NM_004551.3(NDUFS3):c.134-17A>C | 4722 | NDUFS3 | Likely benign | CN169374 not specified; | MedGen:CN169374 | not specified | RCV000614835; | 561407271 | 11 | 47602060 | 47602060 | 11:g.47602060A>C | | | ClinGen:CA5977850 | N | Jan 25, 2018 | criteria provided, single submitter | 1 | |
36. Pubmed: Pubtator: | 2078650 | NM_004551.3(NDUFS3):c.177A>C (p.Ser59=) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV002880961; | -1 | 11 | 47602120 | 47602120 | | | | - | N | Sep 22, 2022 | criteria provided, single submitter | 1 | |
37. Pubmed: Pubtator: | 1528652 | NM_004551.3(NDUFS3):c.231+9_231+12del | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV002094190; | 2097268154 | 11 | 47602179 | 47602182 | 47602178 | | | - | N | Dec 02, 2021 | criteria provided, single submitter | 1 | |
38. Pubmed: Pubtator: | 1994967 | NM_004551.3(NDUFS3):c.231+9T>C | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV002650439; | -1 | 11 | 47602183 | 47602183 | NC_000011.9:g.47602183T>C | | | - | N | Jul 18, 2022 | criteria provided, single submitter | 1 | |
39. Pubmed: Pubtator: | 1614734 | NM_004551.3(NDUFS3):c.232-9T>C | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV002093777; | 1456101942 | 11 | 47602378 | 47602378 | 47602378 | | | - | N | Mar 02, 2022 | criteria provided, single submitter | 1 | |
40. Pubmed: Pubtator: | 2110343 | NM_004551.3(NDUFS3):c.294T>C (p.Thr98=) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV002957609; | -1 | 11 | 47602449 | 47602449 | | | | - | N | Dec 25, 2021 | criteria provided, single submitter | 1 | |
41. Pubmed: Pubtator: | 1937236 | NM_004551.3(NDUFS3):c.507+10C>T | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV003105098; | -1 | 11 | 47603775 | 47603775 | NC_000011.9:g.47603775C>T | | | - | N | Jul 15, 2022 | criteria provided, single submitter | 1 | |
42. Pubmed: Pubtator: | 1194511 | NM_004551.3(NDUFS3):c.507+62C>T | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV001569546; | 2233358 | 11 | 47603827 | 47603827 | 47603827 | | | - | N | Dec 05, 2018 | criteria provided, single submitter | 1 | |
43. Pubmed: Pubtator: | 2153550 | NM_004551.3(NDUFS3):c.508-11C>G | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV003028034; | -1 | 11 | 47603890 | 47603890 | NC_000011.9:g.47603890C>G | | | - | N | Feb 09, 2022 | criteria provided, single submitter | 1 | |
44. Pubmed: 28492532 Pubtator: 28492532 | 724473 | NM_004551.3(NDUFS3):c.561C>T (p.Ile187=) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV000891836; | 760510463 | 11 | 47603954 | 47603954 | 11:g.47603954C>T | | | - | N | Sep 22, 2017 | criteria provided, single submitter | 1 | |
45. Pubmed: Pubtator: | 1180839 | NM_004551.3(NDUFS3):c.579C>T (p.Phe193=) | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV001553251; | 778392027 | 11 | 47603972 | 47603972 | 47603972 | | | - | N | Jul 25, 2019 | criteria provided, single submitter | 1 | |
46. Pubmed: Pubtator: | 2080636 | NM_004551.3(NDUFS3):c.621T>C (p.Tyr207=) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV002875994; | -1 | 11 | 47604014 | 47604014 | | | | - | N | Aug 15, 2022 | criteria provided, single submitter | 1 | |
47. Pubmed: Pubtator: | 503670 | NM_004551.3(NDUFS3):c.628-23_628-7dup | 4722 | NDUFS3 | Likely benign | CN169374 not specified; | MedGen:C3661900 | not provided | RCV001697941; | 1302675745 | 11 | 47605837 | 47605838 | 11:g.47605837_47605838insTGCTCAAGCCTGCCTTT | | | ClinGen:CA599375364 | N | Oct 16, 2018 | criteria provided, single submitter | 1 | |
48. Pubmed: Pubtator: | 1640355 | NM_004551.3(NDUFS3):c.642T>C (p.Asp214=) | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV002174357; | 762784963 | 11 | 47605880 | 47605880 | 47605880 | | | - | N | Dec 02, 2021 | criteria provided, single submitter | 1 | |
49. Pubmed: Pubtator: | 503864 | NM_004551.3(NDUFS3):c.654G>T (p.Arg218=) | 4722 | NDUFS3 | Likely benign | CN169374 not specified; | MedGen:CN169374|MedGen:CN517202 | not specified|not provided | RCV000615106|RCV002063926; | 757870758 | 11 | 47605892 | 47605892 | 11:g.47605892G>T | | | ClinGen:CA474220907 | N | Aug 19, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
50. Pubmed: 28492532 Pubtator: 28492532 | 503873 | NM_004551.3(NDUFS3):c.669G>A (p.Pro223=) | 4722 | NDUFS3 | Likely benign | CN169374 not specified; | MedGen:CN517202 | not provided | RCV000894611; | 370799966 | 11 | 47605907 | 47605907 | 11:g.47605907G>A | | | ClinGen:CA5978071 | N | Aug 15, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
51. Pubmed: Pubtator: | 1567603 | NM_004551.3(NDUFS3):c.675G>A (p.Glu225=) | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV002171178; | 754518075 | 11 | 47605913 | 47605913 | 47605913 | | | - | N | Sep 07, 2022 | criteria provided, single submitter | 1 | |
52. Pubmed: 28492532 Pubtator: 28492532 | 738019 | NM_004551.3(NDUFS3):c.768C>T (p.Ala256=) | 4722 | NDUFS3 | Likely benign | | MedGen:CN517202 | not provided | RCV000907453; | 544439788 | 11 | 47606006 | 47606006 | 11:g.47606006C>T | | | - | N | Jul 21, 2018 | criteria provided, single submitter | 1 | |
53. Pubmed: Pubtator: | 1198216 | NM_004551.3(NDUFS3):c.*15T>C | 4722 | NDUFS3 | Likely benign | | MedGen:C3661900 | not provided | RCV001576718; | 1004428383 | 11 | 47606048 | 47606048 | 47606048 | | | - | N | Mar 02, 2017 | criteria provided, single submitter | 1 | |
54. Pubmed: Pubtator: | 1210283 | NC_000011.10:g.47584604G>T | 4722 | NDUFS3 | Likely benign | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | MedGen:C3661900 | not provided | RCV001592565; | 147942473 | 11 | 47606156 | 47606156 | | | | - | N | Dec 05, 2018 | criteria provided, single submitter | 1 | |
55. Pubmed: Pubtator: | 1209133 | NC_000011.10:g.47584696dup | 4722 | NDUFS3 | Likely benign | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | MedGen:C3661900 | not provided | RCV001594351; | 372312923 | 11 | 47606231 | 47606232 | | | | - | N | Oct 07, 2019 | criteria provided, single submitter | 1 | |
56. Pubmed: Pubtator: | 1177459 | NC_000011.10:g.47584754A>C | 4722 | NDUFS3 | Likely benign | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | MedGen:C3661900 | not provided | RCV001545245; | 7109918 | 11 | 47606306 | 47606306 | | | | - | N | Jul 07, 2018 | criteria provided, single submitter | 1 | |
57. Pubmed: Pubtator: | 665750 | NM_018095.6(KBTBD4):c.19+133T>C | 4722 | NDUFS3 | Benign | | MedGen:C3661900 | not provided | RCV000843220; | 4450136 | 11 | 47600352 | 47600352 | 11:g.47600352A>G | | | - | N | Jun 14, 2018 | criteria provided, single submitter | 1 | |
58. Pubmed: Pubtator: | 1227014 | NM_018095.6(KBTBD4):c.19+47G>A | 4722 | NDUFS3 | Benign | | MedGen:C3661900 | not provided | RCV001636087; | 2280231 | 11 | 47600438 | 47600438 | 47600438 | | | - | N | Jun 23, 2018 | criteria provided, single submitter | 1 | |
59. Pubmed: Pubtator: | 1243544 | NM_004551.3(NDUFS3):c.134-100C>T | 4722 | NDUFS3 | Benign | | MedGen:C3661900 | not provided | RCV001663163; | 2233354 | 11 | 47601977 | 47601977 | 47601977 | | | - | N | Jun 23, 2018 | criteria provided, single submitter | 1 | |
60. Pubmed: Pubtator: | 1248189 | NM_004551.3(NDUFS3):c.381+189dup | 4722 | NDUFS3 | Benign | | MedGen:C3661900 | not provided | RCV001671226; | 746979918 | 11 | 47602711 | 47602712 | 47602711 | | | - | N | Jan 25, 2020 | criteria provided, single submitter | 1 | |
61. Pubmed: Pubtator: | 1242825 | NM_004551.3(NDUFS3):c.381+189del | 4722 | NDUFS3 | Benign | | MedGen:C3661900 | not provided | RCV001661178; | 746979918 | 11 | 47602712 | 47602712 | 47602711 | | | - | N | Oct 10, 2019 | criteria provided, single submitter | 1 | |
62. Pubmed: Pubtator: | 665075 | NM_004551.3(NDUFS3):c.381+193C>T | 4722 | NDUFS3 | Benign | | MedGen:C3661900 | not provided | RCV000844532; | 2030166 | 11 | 47602729 | 47602729 | 11:g.47602729C>T | | | - | N | Jun 14, 2018 | criteria provided, single submitter | 1 | |
63. Pubmed: Pubtator: | 1262835 | NC_000011.10:g.47584696del | 4722 | NDUFS3 | Benign | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | MedGen:C3661900 | not provided | RCV001684651; | 372312923 | 11 | 47606232 | 47606232 | | | | - | N | Sep 09, 2019 | criteria provided, single submitter | 1 | |
64. Pubmed: Pubtator: | 868113 | NM_004551.3(NDUFS3):c.-15C>G | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome | RCV001103764|RCV001103765; | 950097510 | 11 | 47600629 | 47600629 | 11:g.47600629C>G | | | - | N | Jan 13, 2018 | criteria provided, single submitter | 1 | |
65. Pubmed: Pubtator: | 1860693 | NM_004551.3(NDUFS3):c.22A>G (p.Arg8Gly) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002467336; | -1 | 11 | 47600665 | 47600665 | NC_000011.9:g.47600665A>G | | | - | N | Jun 06, 2022 | criteria provided, single submitter | 1 | |
66. Pubmed: Pubtator: | 2042212 | NM_004551.3(NDUFS3):c.22A>T (p.Arg8Trp) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002761343; | -1 | 11 | 47600665 | 47600665 | NC_000011.9:g.47600665A>T | | | - | N | Jul 26, 2022 | criteria provided, single submitter | 1 | |
67. Pubmed: Pubtator: | 2021183 | NM_004551.3(NDUFS3):c.23G>A (p.Arg8Lys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002721401; | -1 | 11 | 47600666 | 47600666 | NC_000011.9:g.47600666G>A | | | - | N | Sep 01, 2022 | criteria provided, single submitter | 1 | |
68. Pubmed: Pubtator: | 2075167 | NM_004551.3(NDUFS3):c.26T>C (p.Leu9Pro) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002839072; | -1 | 11 | 47600669 | 47600669 | NC_000011.9:g.47600669T>C | | | - | N | Jul 07, 2022 | criteria provided, single submitter | 1 | |
69. Pubmed: Pubtator: | 2335075 | NM_004551.3(NDUFS3):c.31T>C (p.Trp11Arg) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV002946445; | -1 | 11 | 47600674 | 47600674 | NC_000011.9:g.47600674T>C | | | - | N | Sep 22, 2022 | criteria provided, single submitter | 1 | |
70. Pubmed: Pubtator: | 868114 | NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome | RCV001103766|RCV001103767; | 201457989 | 11 | 47600677 | 47600677 | 11:g.47600677C>T | | | - | N | Jan 13, 2018 | criteria provided, single submitter | 1 | |
71. Pubmed: Pubtator: | 2742450 | NM_004551.3(NDUFS3):c.37G>A (p.Gly13Arg) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003324894; | -1 | 11 | 47600680 | 47600680 | | | | - | N | Feb 25, 2023 | criteria provided, single submitter | 1 | |
72. Pubmed: Pubtator: | 2189541 | NM_004551.3(NDUFS3):c.40A>C (p.Ile14Leu) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003052467; | -1 | 11 | 47600683 | 47600683 | NC_000011.9:g.47600683A>C | | | - | N | Sep 27, 2022 | criteria provided, single submitter | 1 | |
73. Pubmed: Pubtator: | 1496012 | NM_004551.3(NDUFS3):c.67+4A>C | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001887678; | 1424630879 | 11 | 47600714 | 47600714 | 47600714 | | | - | N | May 16, 2021 | criteria provided, single submitter | 1 | |
74. Pubmed: Pubtator: | 444833 | NM_004551.3(NDUFS3):c.127A>G (p.Thr43Ala) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV000522121; | 1555198446 | 11 | 47600880 | 47600880 | NC_000011.9:g.47600880A>G | | | ClinGen:CA380356877 | N | Jun 28, 2017 | criteria provided, single submitter | 1 | |
75. Pubmed: Pubtator: | 1486983 | NM_004551.3(NDUFS3):c.133+3_133+6del | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | not provided|Mitochondrial complex 1 deficiency, nuclear type 8 | RCV001918177|RCV003147700; | 759140196 | 11 | 47600887 | 47600890 | 47600886 | | | - | N | Aug 23, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
76. Pubmed: 28031252, 25978847, 22499348, 22114105, 20818383, 19336460, 19167255, 14729820, 8602753 Pubtator: 28031252 25978847 22499348 22114105 20818383 19336460 19167255 14729820 8602753 | 511916 | NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) | 4722 | NDUFS3 | Uncertain significance | C0950123 Inborn genetic diseases; | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | Inborn genetic diseases|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome | RCV000623097|RCV001105709|RCV001105708; | 1555198759 | 11 | 47602092 | 47602092 | 11:g.47602092G>A | | | ClinGen:CA380357590 | N | Jan 12, 2018 | criteria provided, multiple submitters, no conflicts | 2 | |
77. Pubmed: Pubtator: | 2015827 | NM_004551.3(NDUFS3):c.166A>G (p.Lys56Glu) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002695953; | -1 | 11 | 47602109 | 47602109 | NC_000011.9:g.47602109A>G | | | - | N | Feb 04, 2022 | criteria provided, single submitter | 1 | |
78. Pubmed: Pubtator: | 1442517 | NM_004551.3(NDUFS3):c.185G>T (p.Gly62Val) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | not provided|Inborn genetic diseases | RCV002043066|RCV003355770; | 889228369 | 11 | 47602128 | 47602128 | 47602128 | | | - | N | Jul 30, 2023 | criteria provided, multiple submitters, no conflicts | 2 | |
79. Pubmed: Pubtator: | 2410656 | NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | Mitochondrial complex 1 deficiency, nuclear type 8 | RCV003132864; | -1 | 11 | 47602166 | 47602166 | NC_000011.9:g.47602166C>T | | | - | N | Aug 26, 2019 | criteria provided, single submitter | 1 | |
80. Pubmed: Pubtator: | 1997786 | NM_004551.3(NDUFS3):c.229C>A (p.Gln77Lys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002675641; | -1 | 11 | 47602172 | 47602172 | NC_000011.9:g.47602172C>A | | | - | N | Sep 27, 2022 | criteria provided, single submitter | 1 | |
81. Pubmed: Pubtator: | 620833 | NM_004551.3(NDUFS3):c.232-1G>A | 4722 | NDUFS3 | Uncertain significance | | - | NDUFS3-Related Disorders | RCV000778328; | 1565941981 | 11 | 47602386 | 47602386 | NC_000011.9:g.47602386G>A | | | - | N | Dec 10, 2018 | criteria provided, single submitter | 1 | |
82. Pubmed: Pubtator: | 1887563 | NM_004551.3(NDUFS3):c.252A>T (p.Leu84Phe) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | Inborn genetic diseases|not provided | RCV003078747|RCV003089674; | -1 | 11 | 47602407 | 47602407 | NC_000011.9:g.47602407A>T | | | - | N | Apr 09, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
83. Pubmed: Pubtator: | 1902170 | NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | not provided|Inborn genetic diseases | RCV003087981|RCV003087982; | -1 | 11 | 47602410 | 47602410 | NC_000011.9:g.47602410G>C | | | - | N | Sep 22, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
84. Pubmed: 28031252, 25978847, 22499348, 22114105, 20818383, 19336460, 19167255, 14729820, 8602753 Pubtator: 28031252 25978847 22499348 22114105 20818383 19336460 19167255 14729820 8602753 | 511917 | NM_004551.3(NDUFS3):c.269C>T (p.Pro90Leu) | 4722 | NDUFS3 | Uncertain significance | C0950123 Inborn genetic diseases; | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV000624385; | 1555198835 | 11 | 47602424 | 47602424 | NC_000011.9:g.47602424C>T | | | ClinGen:CA380358427 | N | Jul 12, 2017 | criteria provided, single submitter | 1 | |
85. Pubmed: Pubtator: | 1458606 | NM_004551.3(NDUFS3):c.277G>A (p.Val93Ile) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV002028136; | 760089998 | 11 | 47602432 | 47602432 | 47602432 | | | - | N | Sep 17, 2021 | criteria provided, single submitter | 1 | |
86. Pubmed: Pubtator: | 2816612 | NM_004551.3(NDUFS3):c.297C>A (p.Phe99Leu) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV003390050; | -1 | 11 | 47602452 | 47602452 | | | | - | N | May 01, 2022 | criteria provided, single submitter | 1 | |
87. Pubmed: Pubtator: | 2063701 | NM_004551.3(NDUFS3):c.340T>G (p.Leu114Val) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002838976; | -1 | 11 | 47602495 | 47602495 | NC_000011.9:g.47602495T>G | | | - | N | Jun 29, 2022 | criteria provided, single submitter | 1 | |
88. Pubmed: Pubtator: | 1710524 | NM_004551.3(NDUFS3):c.347C>T (p.Ala116Val) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002293820; | -1 | 11 | 47602502 | 47602502 | 47602502 | | | - | N | Apr 20, 2022 | criteria provided, single submitter | 1 | |
89. Pubmed: Pubtator: | 2448713 | NM_004551.3(NDUFS3):c.364C>T (p.Arg122Trp) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV003192211; | -1 | 11 | 47602519 | 47602519 | | | | - | N | Feb 14, 2023 | criteria provided, single submitter | 1 | |
90. Pubmed: Pubtator: | 2773997 | NM_004551.3(NDUFS3):c.368A>C (p.Gln123Pro) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV003362275; | -1 | 11 | 47602523 | 47602523 | | | | - | N | Jul 19, 2023 | criteria provided, single submitter | 1 | |
91. Pubmed: Pubtator: | 2747572 | NM_004551.3(NDUFS3):c.373C>T (p.Arg125Cys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003329038; | -1 | 11 | 47602528 | 47602528 | | | | - | N | Mar 15, 2023 | criteria provided, single submitter | 1 | |
92. Pubmed: Pubtator: | 1363849 | NM_004551.3(NDUFS3):c.381+2T>C | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001904877; | 2153795340 | 11 | 47602538 | 47602538 | 47602538 | | | - | N | Dec 02, 2021 | criteria provided, single submitter | 1 | |
93. Pubmed: Pubtator: | 2143082 | NM_004551.3(NDUFS3):c.381+4A>G | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002994164; | -1 | 11 | 47602540 | 47602540 | NC_000011.9:g.47602540A>G | | | - | N | Aug 23, 2022 | criteria provided, single submitter | 1 | |
94. Pubmed: Pubtator: | 1493561 | NC_000011.9:g.(?_47603620)_(47606033_?)del | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001944197; | -1 | 11 | 47603620 | 47606033 | -1 | | | - | N | Sep 22, 2021 | criteria provided, single submitter | 1 | |
95. Pubmed: Pubtator: | 549978 | NM_004551.3(NDUFS3):c.401C>G (p.Ser134Cys) | 4722 | NDUFS3 | Uncertain significance | CN517202 not provided; | MedGen:CN517202 | not provided | RCV000677082; | 754995990 | 11 | 47603659 | 47603659 | NC_000011.9:g.47603659C>G | | | - | N | Feb 29, 2016 | no assertion criteria provided | 1 | |
96. Pubmed: Pubtator: | 1017459 | NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | Mitochondrial complex 1 deficiency, nuclear type 8|Inborn genetic diseases|not provided | RCV001332479|RCV002546565|RCV002546566; | 368446373 | 11 | 47603664 | 47603664 | 47603664 | | | - | N | Aug 16, 2022 | criteria provided, multiple submitters, no conflicts | 3 | |
97. Pubmed: 30140060, 25741868 Pubtator: 30140060 25741868 | 626077 | NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202 | Mitochondrial complex 1 deficiency, nuclear type 8|not provided | RCV000790863|RCV001557810; | 142248674 | 11 | 47603676 | 47603676 | 11:g.47603676C>T | | | - | N | Sep 13, 2019 | criteria provided, multiple submitters, no conflicts | 2 | |
98. Pubmed: Pubtator: | 1052776 | NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | Mitochondrial complex 1 deficiency, nuclear type 8 | RCV001374464; | 372417584 | 11 | 47603677 | 47603677 | 47603677 | | | OMIM:603846.0003 | N | Dec 02, 2021 | criteria provided, single submitter | 2 | |
99. Pubmed: Pubtator: | 415277 | NM_004551.3(NDUFS3):c.424C>T (p.Arg142Cys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV000489564; | 146407178 | 11 | 47603682 | 47603682 | NC_000011.9:g.47603682C>T | | | ClinGen:CA5977986 | N | Jan 26, 2021 | criteria provided, single submitter | 1 | |
100. Pubmed: Pubtator: | 868115 | NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome | RCV001106824|RCV001106825; | 780005953 | 11 | 47603683 | 47603683 | 11:g.47603683G>A | | | - | N | Apr 27, 2017 | criteria provided, single submitter | 1 | |
101. Pubmed: Pubtator: | 2389426 | NM_004551.3(NDUFS3):c.496T>C (p.Tyr166His) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV002784322; | -1 | 11 | 47603754 | 47603754 | NC_000011.9:g.47603754T>C | | | - | N | Nov 22, 2022 | criteria provided, single submitter | 1 | |
102. Pubmed: Pubtator: | 2376896 | NM_004551.3(NDUFS3):c.505G>A (p.Glu169Lys) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV002694090; | -1 | 11 | 47603763 | 47603763 | NC_000011.9:g.47603763G>A | | | - | N | Nov 18, 2022 | criteria provided, single submitter | 1 | |
103. Pubmed: Pubtator: | 1295357 | NM_004551.3(NDUFS3):c.538A>C (p.Asn180His) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001773792; | 550477502 | 11 | 47603931 | 47603931 | 47603931 | | | - | N | Apr 24, 2019 | criteria provided, single submitter | 1 | |
104. Pubmed: Pubtator: | 1301654 | NM_004551.3(NDUFS3):c.540C>A (p.Asn180Lys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001755026; | 750546500 | 11 | 47603933 | 47603933 | 47603933 | | | - | N | Jan 26, 2021 | criteria provided, single submitter | 1 | |
105. Pubmed: Pubtator: | 2210995 | NM_004551.3(NDUFS3):c.580G>A (p.Glu194Lys) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV002656933; | -1 | 11 | 47603973 | 47603973 | NC_000011.9:g.47603973G>A | | | - | N | Dec 07, 2021 | criteria provided, single submitter | 1 | |
106. Pubmed: 25741868 Pubtator: 25741868 | 513602 | NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) | 4722 | NDUFS3 | Uncertain significance | C1838979 252010 Mitochondrial complex I deficiency; | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202 | Mitochondrial complex I deficiency|not provided | RCV000626206|RCV002533151; | 771783839 | 11 | 47603989 | 47603989 | 11:g.47603989G>A | | | ClinGen:CA5978034 | N | Jul 30, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
107. Pubmed: Pubtator: | 1369635 | NM_004551.3(NDUFS3):c.627+2T>C | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001945293; | 950704123 | 11 | 47604022 | 47604022 | 47604022 | | | - | N | Dec 02, 2021 | criteria provided, single submitter | 1 | |
108. Pubmed: Pubtator: | 2177395 | NM_004551.3(NDUFS3):c.627+5G>A | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003055108; | -1 | 11 | 47604025 | 47604025 | NC_000011.9:g.47604025G>A | | | - | N | May 28, 2022 | criteria provided, single submitter | 1 | |
109. Pubmed: Pubtator: | 1924554 | NM_004551.3(NDUFS3):c.631C>T (p.Arg211Cys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002640644; | -1 | 11 | 47605869 | 47605869 | NC_000011.9:g.47605869C>T | | | - | N | Mar 23, 2022 | criteria provided, single submitter | 1 | |
110. Pubmed: Pubtator: | 2126524 | NM_004551.3(NDUFS3):c.640G>A (p.Asp214Asn) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002975364; | -1 | 11 | 47605878 | 47605878 | NC_000011.9:g.47605878G>A | | | - | N | Sep 01, 2022 | criteria provided, single submitter | 1 | |
111. Pubmed: Pubtator: | 1366387 | NM_004551.3(NDUFS3):c.653G>A (p.Arg218Gln) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001929556; | 78121716 | 11 | 47605891 | 47605891 | 47605891 | | | - | N | Sep 09, 2021 | criteria provided, single submitter | 1 | |
112. Pubmed: Pubtator: | 2721874 | NM_004551.3(NDUFS3):c.678G>C (p.Leu226Phe) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123 | Inborn genetic diseases | RCV003269062; | -1 | 11 | 47605916 | 47605916 | | | | - | N | May 30, 2023 | criteria provided, single submitter | 1 | |
113. Pubmed: Pubtator: | 2160234 | NM_004551.3(NDUFS3):c.691del (p.Arg231fs) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003042203; | -1 | 11 | 47605928 | 47605928 | NC_000011.9:g.47605929del | | | - | N | Jun 15, 2022 | criteria provided, single submitter | 1 | |
114. Pubmed: Pubtator: | 1973540 | NM_004551.3(NDUFS3):c.692G>A (p.Arg231His) | 4722 | NDUFS3 | Uncertain significance | | MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | Inborn genetic diseases|not provided | RCV002593783|RCV002608301; | -1 | 11 | 47605930 | 47605930 | NC_000011.9:g.47605930G>A | | | - | N | Jul 19, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
115. Pubmed: Pubtator: | 425933 | NM_004551.3(NDUFS3):c.694A>C (p.Lys232Gln) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV000498968; | 1321310543 | 11 | 47605932 | 47605932 | NC_000011.9:g.47605932A>C | | | ClinGen:CA380362758 | N | May 31, 2017 | criteria provided, single submitter | 1 | |
116. Pubmed: Pubtator: | 2171659 | NM_004551.3(NDUFS3):c.710G>T (p.Ser237Ile) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003026850; | -1 | 11 | 47605948 | 47605948 | NC_000011.9:g.47605948G>T | | | - | N | Mar 17, 2022 | criteria provided, single submitter | 1 | |
117. Pubmed: Pubtator: | 1710502 | NM_004551.3(NDUFS3):c.712C>T (p.Pro238Ser) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002293798; | -1 | 11 | 47605950 | 47605950 | 47605950 | | | - | N | Jul 13, 2022 | criteria provided, multiple submitters, no conflicts | 2 | |
118. Pubmed: Pubtator: | 1914012 | NM_004551.3(NDUFS3):c.713C>T (p.Pro238Leu) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002632462; | -1 | 11 | 47605951 | 47605951 | NC_000011.9:g.47605951C>T | | | - | N | Jun 22, 2022 | criteria provided, single submitter | 1 | |
119. Pubmed: Pubtator: | 1976956 | NM_004551.3(NDUFS3):c.721G>A (p.Ala241Thr) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002608179; | -1 | 11 | 47605959 | 47605959 | NC_000011.9:g.47605959G>A | | | - | N | Apr 05, 2022 | criteria provided, single submitter | 1 | |
120. Pubmed: Pubtator: | 2077372 | NM_004551.3(NDUFS3):c.722del (p.Ala241fs) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002853486; | -1 | 11 | 47605960 | 47605960 | NC_000011.9:g.47605960del | | | - | N | Aug 21, 2022 | criteria provided, single submitter | 1 | |
121. Pubmed: Pubtator: | 1450487 | NM_004551.3(NDUFS3):c.734A>G (p.Tyr245Cys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001915430; | 765380548 | 11 | 47605972 | 47605972 | 47605972 | | | - | N | Dec 02, 2021 | criteria provided, single submitter | 1 | |
122. Pubmed: Pubtator: | 211540 | NM_004551.3(NDUFS3):c.736C>T (p.Arg246Cys) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001904778; | 376722149 | 11 | 47605974 | 47605974 | 47605974 | | | - | N | Aug 10, 2022 | criteria provided, single submitter | 1 | |
123. Pubmed: Pubtator: | 868116 | NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1 | RCV001107484|RCV001107485; | 201371939 | 11 | 47605975 | 47605975 | 11:g.47605975G>A | | | - | N | Jan 13, 2018 | criteria provided, single submitter | 1 | |
124. Pubmed: Pubtator: | 2187921 | NM_004551.3(NDUFS3):c.742C>T (p.Pro248Ser) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003036564; | -1 | 11 | 47605980 | 47605980 | NC_000011.9:g.47605980C>T | | | - | N | Aug 02, 2022 | criteria provided, single submitter | 1 | |
125. Pubmed: Pubtator: | 1422205 | NM_004551.3(NDUFS3):c.746C>T (p.Pro249Leu) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001972166; | 9600 | 11 | 47605984 | 47605984 | 47605984 | | | - | N | Jul 05, 2022 | criteria provided, single submitter | 1 | |
126. Pubmed: Pubtator: | 1339794 | NM_004551.3(NDUFS3):c.751_752dup (p.Ser251fs) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV002035902; | 760008502 | 11 | 47605985 | 47605986 | 47605985 | | | - | N | Oct 24, 2022 | criteria provided, single submitter | 1 | |
127. Pubmed: Pubtator: | 1423812 | NM_004551.3(NDUFS3):c.754C>T (p.Leu252Phe) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV001977777; | 777250139 | 11 | 47605992 | 47605992 | 47605992 | | | - | N | Oct 24, 2022 | criteria provided, single submitter | 1 | |
128. Pubmed: Pubtator: | 1416986 | NM_004551.3(NDUFS3):c.766G>C (p.Ala256Pro) | 4722 | NDUFS3 | Uncertain significance | | MedGen:C3661900 | not provided | RCV002014946; | 1245477393 | 11 | 47606004 | 47606004 | 47606004 | | | - | N | Sep 01, 2022 | criteria provided, single submitter | 1 | |
129. Pubmed: Pubtator: | 2023735 | NM_004551.3(NDUFS3):c.769G>A (p.Gly257Arg) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002731215; | -1 | 11 | 47606007 | 47606007 | NC_000011.9:g.47606007G>A | | | - | N | May 03, 2022 | criteria provided, single submitter | 1 | |
130. Pubmed: Pubtator: | 2178068 | NM_004551.3(NDUFS3):c.782C>A (p.Pro261His) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV003047445; | -1 | 11 | 47606020 | 47606020 | NC_000011.9:g.47606020C>A | | | - | N | Apr 19, 2022 | criteria provided, single submitter | 1 | |
131. Pubmed: Pubtator: | 2029287 | NM_004551.3(NDUFS3):c.782C>T (p.Pro261Leu) | 4722 | NDUFS3 | Uncertain significance | | MedGen:CN517202 | not provided | RCV002745755; | -1 | 11 | 47606020 | 47606020 | NC_000011.9:g.47606020C>T | | | - | N | Jun 13, 2022 | criteria provided, single submitter | 1 | |
132. Pubmed: Pubtator: | 868117 | NM_004551.3(NDUFS3):c.*32G>A | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1 | RCV001103855|RCV001103856; | 189495301 | 11 | 47606065 | 47606065 | 11:g.47606065G>A | | | - | N | Jan 12, 2018 | criteria provided, single submitter | 1 | |
133. Pubmed: Pubtator: | 868118 | NM_004551.3(NDUFS3):c.*39C>T | 4722 | NDUFS3 | Uncertain significance | | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1 | RCV001105800|RCV001105801; | 145121567 | 11 | 47606072 | 47606072 | 11:g.47606072C>T | | | - | N | Jan 13, 2018 | criteria provided, single submitter | 1 | |