| - GRCh37:
- Chr17:61678723
- GRCh38:
- Chr17:63601364
| TACO1 | | Mitochondrial complex 4 deficiency, nuclear type 8 | Pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:61684828
- GRCh38:
- Chr17:63607468
| TACO1 | | Mitochondrial complex 4 deficiency, nuclear type 8 | Uncertain significance
(Dec 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:61685282
- GRCh38:
- Chr17:63607922
| TACO1 | D272N | Mitochondrial complex 4 deficiency, nuclear type 8 | Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:61683733
- GRCh38:
- Chr17:63606373
| TACO1 | I150V | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Uncertain significance
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61684816
- GRCh38:
- Chr17:63607456
| TACO1 | V229I | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Uncertain significance
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61685315
- GRCh38:
- Chr17:63607955
| TACO1 | L283V | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61685341
- GRCh38:
- Chr17:63607981
| TACO1 | | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Likely benign
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61683761
- GRCh38:
- Chr17:63606401
| TACO1 | K159R | Mitochondrial complex 4 deficiency, nuclear type 8, Cytochrome-c oxidase deficiency disease | Uncertain significance
(Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61683706
- GRCh38:
- Chr17:63606346
| TACO1 | R141* | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Pathogenic
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61678508
- GRCh38:
- Chr17:63601149
| TACO1 | | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Likely benign
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61678469
- GRCh38:
- Chr17:63601110
| TACO1 | | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Likely benign
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61681940
- GRCh38:
- Chr17:63604580
| TACO1 | | Mitochondrial complex 4 deficiency, nuclear type 8, not provided | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61685287
- GRCh38:
- Chr17:63607927
| TACO1 | | not provided, Mitochondrial complex 4 deficiency, nuclear type 8, not specified
| Likely benign
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61683755-61683756
- GRCh38:
- Chr17:63606395-63606396
| TACO1 | H158fs | Cytochrome-c oxidase deficiency disease | Likely pathogenic
(Dec 3, 2018) | criteria provided, single submitter |