| - GRCh37:
- Chr16:21982901-21982902
- GRCh38:
- Chr16:21971580-21971581
| PDZD9, UQCRC2 | L244fs | Mitochondrial complex III deficiency nuclear type 5 | Likely pathogenic
(May 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21974129
- GRCh38:
- Chr16:21962808
| PDZD9, UQCRC2 | F146S | Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Apr 6, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:21991932
- GRCh38:
- Chr16:21980611
| PDZD9, UQCRC2 | G397R | Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Apr 6, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:21991996-21991997
- GRCh38:
- Chr16:21980675-21980676
| PDZD9, UQCRC2 | V419fs | Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21968826
- GRCh38:
- Chr16:21957505
| UQCRC2 | S69N | Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Apr 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21968886
- GRCh38:
- Chr16:21957565
| PDZD9, UQCRC2 | L89P | not provided, Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:21969911
- GRCh38:
- Chr16:21958590
| PDZD9, UQCRC2 | G108D | Mitochondrial complex III deficiency nuclear type 5 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:21979997
- GRCh38:
- Chr16:21968676
| PDZD9, UQCRC2 | I221F | Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Apr 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21991971
- GRCh38:
- Chr16:21980650
| PDZD9, UQCRC2 | S410P | Mitochondrial complex III deficiency nuclear type 5 | Uncertain significance
(Oct 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21980001
- GRCh38:
- Chr16:21968680
| PDZD9, UQCRC2 | G222A | Mitochondrial complex III deficiency nuclear type 5 | Pathogenic
(Nov 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21983430
- GRCh38:
- Chr16:21972109
| PDZD9, UQCRC2 | Q318P | Mitochondrial complex III deficiency nuclear type 5, not provided | Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:21973809
- GRCh38:
- Chr16:21962488
| PDZD9, UQCRC2 | Y121H | Mitochondrial complex III deficiency nuclear type 5, not provided | Conflicting interpretations of pathogenicity
(May 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:21976762
- GRCh38:
- Chr16:21965441
| UQCRC2, PDZD9 | R183Q | not provided, Mitochondrial complex III deficiency nuclear type 5, not specified
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:21976761
- GRCh38:
- Chr16:21965440
| PDZD9, UQCRC2 | R183W | Mitochondrial complex III deficiency nuclear type 5, not provided | Pathogenic/Likely pathogenic
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |