| - GRCh37:
- Chr17:14110460
- GRCh38:
- Chr17:14207143
| COX10 | L421P | Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:14005554
- GRCh38:
- Chr17:14102237
| COX10 | N207fs | Mitochondrial complex 4 deficiency, nuclear type 3 | Likely pathogenic
(Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:13977768
- GRCh38:
- Chr17:14074451
| COX10 | R58C | Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Dec 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:14095488
- GRCh38:
- Chr17:14192171
| COX10, LOC105943586 | A293V | Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:14110235
- GRCh38:
- Chr17:14206918
| COX10 | S346L | Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:13972956
- GRCh38:
- Chr17:14069639
| COX10, LOC130060303 | L12F | not provided, Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13980285-13980286
- GRCh38:
- Chr17:14076968-14076969
| COX10 | K138fs | Mitochondrial complex 4 deficiency, nuclear type 3 | Likely pathogenic
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110383
- GRCh38:
- Chr17:14207066
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3, not provided | Likely benign
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14063194
- GRCh38:
- Chr17:14159877
| COX10 | F209L | Mitochondrial complex 4 deficiency, nuclear type 3, not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14005455
- GRCh38:
- Chr17:14102138
| COX10 | A174T | Mitochondrial complex 4 deficiency, nuclear type 3, not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110294
- GRCh38:
- Chr17:14206977
| COX10 | V366M | not provided, Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14005470
- GRCh38:
- Chr17:14102153
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110268
- GRCh38:
- Chr17:14206951
| COX10 | A357V | not provided, Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110390
- GRCh38:
- Chr17:14207073
| COX10 | R398C | Leigh syndrome, Mitochondrial complex 4 deficiency, nuclear type 3, not provided
| Uncertain significance
(Jul 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110384
- GRCh38:
- Chr17:14207067
| COX10 | G396S | Mitochondrial complex 4 deficiency, nuclear type 3, Leigh syndrome | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13980268
- GRCh38:
- Chr17:14076951
| COX10 | D132Y | Mitochondrial complex 4 deficiency, nuclear type 3, Inborn genetic diseases, not provided,
Leigh syndrome | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14095333-14095335
- GRCh38:
- Chr17:14192016-14192018
| COX10, LOC105943586 | C243del | Mitochondrial complex 4 deficiency, nuclear type 3, not provided | Uncertain significance
(Jan 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13972834
- GRCh38:
- Chr17:14069517
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3, Leigh syndrome, Cytochrome-c oxidase deficiency disease
| Uncertain significance
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14095346
- GRCh38:
- Chr17:14192029
| COX10, LOC105943586 | P246S | Mitochondrial complex 4 deficiency, nuclear type 3, Cytochrome-c oxidase deficiency disease, Leigh syndrome
| Uncertain significance
(Dec 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13972834
- GRCh38:
- Chr17:14069517
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3, Leigh syndrome, Cytochrome-c oxidase deficiency disease
| Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110367
- GRCh38:
- Chr17:14207050
| COX10 | A390V | Mitochondrial complex 4 deficiency, nuclear type 3, Cytochrome-c oxidase deficiency disease, not provided,
Leigh syndrome | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14005496
- GRCh38:
- Chr17:14102179
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3 | Likely benign
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:13980181
- GRCh38:
- Chr17:14076864
| COX10 | S103A | not provided, Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Jan 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13980185
- GRCh38:
- Chr17:14076868
| COX10 | P104L | not provided, Leigh syndrome, Cytochrome-c oxidase deficiency disease,
Mitochondrial complex 4 deficiency, nuclear type 3 | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:14110259
- GRCh38:
- Chr17:14206942
| COX10 | R354Q | Mitochondrial complex 4 deficiency, nuclear type 3, Inborn genetic diseases, Cytochrome-c oxidase deficiency disease,
Leigh syndrome, not provided | Uncertain significance
(Jan 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14063275
- GRCh38:
- Chr17:14159958
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3, not specified | Likely benign
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13977644
- GRCh38:
- Chr17:14074327
| COX10 | | not specified, not provided, Mitochondrial complex 4 deficiency, nuclear type 3
| Benign/Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110225
- GRCh38:
- Chr17:14206908
| COX10 | C343R | Inborn genetic diseases, not provided, Leigh syndrome,
Mitochondrial complex 4 deficiency, nuclear type 3 | Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14111989
- GRCh38:
- Chr17:14208672
| COX10 | | Mitochondrial complex 4 deficiency, nuclear type 3, Leigh syndrome, Cytochrome-c oxidase deficiency disease
| Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:13977769
- GRCh38:
- Chr17:14074452
| COX10 | R58H | Inborn genetic diseases, Mitochondrial complex 4 deficiency, nuclear type 3, not provided,
Leigh syndrome, Cytochrome-c oxidase deficiency disease | Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14095391
- GRCh38:
- Chr17:14192074
| COX10, LOC105943586 | A261S | not provided, Inborn genetic diseases, Mitochondrial complex 4 deficiency, nuclear type 3
| Uncertain significance
(Feb 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14110294
- GRCh38:
- Chr17:14206977
| COX10 | V366L | not provided, Mitochondrial complex 4 deficiency, nuclear type 3, not specified,
Cytochrome-c oxidase deficiency disease, Leigh syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:13972924
- GRCh38:
- Chr17:14069607
| COX10, LOC130060303 | M1T | Mitochondrial complex 4 deficiency, nuclear type 3 | Pathogenic
(Oct 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr17:14110205
- GRCh38:
- Chr17:14206888
| COX10 | D336G | Mitochondrial complex 4 deficiency, nuclear type 3 | Pathogenic
(Oct 15, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr17:14110205
- GRCh38:
- Chr17:14206888
| COX10 | D336V | Mitochondrial complex 4 deficiency, nuclear type 3, Cytochrome-c oxidase deficiency disease | Pathogenic/Likely pathogenic
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:14063243
- GRCh38:
- Chr17:14159926
| COX10 | P225L | Mitochondrial complex 4 deficiency, nuclear type 3 | Likely pathogenic
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:14005522
- GRCh38:
- Chr17:14102205
| COX10 | T196K | Mitochondrial complex 4 deficiency, nuclear type 3 | Pathogenic
(Oct 15, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr17:14005547
- GRCh38:
- Chr17:14102230
| COX10 | N204K | Mitochondrial complex 4 deficiency, nuclear type 3 | Pathogenic
(May 1, 2000) | no assertion criteria provided |