| - GRCh37:
- Chr19:1393322
- GRCh38:
- Chr19:1393323
| NDUFS7 | Y179* | Mitochondrial complex 1 deficiency, nuclear type 3 | Likely pathogenic
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1390945
- GRCh38:
- Chr19:1390946
| NDUFS7 | D102N | Mitochondrial complex 1 deficiency, nuclear type 3 | Likely pathogenic
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1390897
- GRCh38:
- Chr19:1390898
| NDUFS7 | L86V | Mitochondrial complex 1 deficiency, nuclear type 3, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1388889
- GRCh38:
- Chr19:1388890
| NDUFS7 | | Mitochondrial complex 1 deficiency, nuclear type 3, not provided | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1391235
- GRCh38:
- Chr19:1391236
| NDUFS7 | | not provided, Mitochondrial complex 1 deficiency, nuclear type 3 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1391124
- GRCh38:
- Chr19:1391125
| NDUFS7 | D139N | Mitochondrial complex 1 deficiency, nuclear type 3 | Likely pathogenic
(Jul 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1388505
- GRCh38:
- Chr19:1388506
| NDUFS7 | | not provided, Mitochondrial complex 1 deficiency, nuclear type 3, not specified
| Benign/Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1391148
- GRCh38:
- Chr19:1391149
| NDUFS7 | V147M | Intellectual disability, Mitochondrial complex 1 deficiency, nuclear type 3, not provided
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1388538
- GRCh38:
- Chr19:1388539
| NDUFS7 | P23L | Mitochondrial complex 1 deficiency, nuclear type 3, Mitochondrial complex I deficiency, nuclear type 1, not specified,
not provided, Leigh syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1386643
- GRCh38:
- Chr19:1386644
| NDUFS7 | | Leigh syndrome | Likely pathogenic
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1391143
- GRCh38:
- Chr19:1391144
| NDUFS7 | R145H | Mitochondrial complex 1 deficiency, nuclear type 3 | Pathogenic
(Apr 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr19:1391005
- GRCh38:
- Chr19:1391006
| NDUFS7 | V122M | Mitochondrial complex 1 deficiency, nuclear type 3, not provided, Leigh syndrome
| Conflicting interpretations of pathogenicity
(Apr 5, 2023) | criteria provided, conflicting interpretations |