| - GRCh37:
- Chr10:77818594
- GRCh38:
- Chr10:76058836
| LRMDA | | Oculocutaneous albinism type 7 | Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:77807092
- GRCh38:
- Chr10:76047334
| LRMDA | | Oculocutaneous albinism type 7 | Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:48934391
- GRCh38:
- ChrX:49076732
| WDR45 | A86V, A85V | Neurodegeneration with brain iron accumulation 5, Oculocutaneous albinism type 7, Neurodegeneration with brain iron accumulation 5
| Uncertain significance
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:48932930
- GRCh38:
- ChrX:49075271
| WDR45 | V281M, V280M | Neurodegeneration with brain iron accumulation 5, Oculocutaneous albinism type 7, not provided,
not specified, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:77807027
- GRCh38:
- Chr10:76047269
| LRMDA | | Oculocutaneous albinism type 7, not provided, not specified
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:77795827
- GRCh38:
- Chr10:76036069
| LOC110121427, LRMDA | | Oculocutaneous albinism type 7, not specified, not provided
| Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:77807014
- GRCh38:
- Chr10:76047256
| LRMDA | N117K, N89K | Oculocutaneous albinism type 7 | Likely pathogenic
(Aug 5, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:77795783-77795784
- GRCh38:
- Chr10:76036025-76036026
| LOC110121427, LRMDA | A51fs, A23fs | not provided | Pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:78317029
- GRCh38:
- Chr10:76557271
| LRMDA | R194*, R222* | not provided | Likely pathogenic
(Sep 17, 2022) | criteria provided, single submitter |