| - GRCh37:
- Chr21:45170425
- GRCh38:
- Chr21:43750544
| PDXK | R130Q, R170Q | Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:45163714
- GRCh38:
- Chr21:43743833
| PDXK | | Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | Benign
(Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:45168884
- GRCh38:
- Chr21:43749003
| PDXK | | Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy, not provided | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:45175958
- GRCh38:
- Chr21:43756077
| PDXK | | not provided, Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:45166002
- GRCh38:
- Chr21:43746121
| PDXK | S125L, S85L | Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy, not provided | Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:45161630
- GRCh38:
- Chr21:43741749
| PDXK | N35K, N75K | Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | Likely pathogenic
(Sep 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:45173500
- GRCh38:
- Chr21:43753619
| PDXK | R220Q, R180Q | Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | Pathogenic
(Jul 19, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr21:45173523
- GRCh38:
- Chr21:43753642
| PDXK | A228T, A188T | PDXK-related condition | Pathogenic
(May 24, 2023) | criteria provided, single submitter |