| - GRCh37:
- Chr22:29886380
- GRCh38:
- Chr22:29490391
| NEFH | E918fs | Charcot-Marie-Tooth disease axonal type 2CC | Likely pathogenic
(Mar 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29885998-29886000
- GRCh38:
- Chr22:29490009-29490011
| NEFH | E792del | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29886507
- GRCh38:
- Chr22:29490518
| NEFH | E960K | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29876588
- GRCh38:
- Chr22:29480599
| NEFH | D113fs | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Jul 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29885677
- GRCh38:
- Chr22:29489688
| NEFH | P683L | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29885145
- GRCh38:
- Chr22:29489156
| NEFH | A506T | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(May 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29881775
- GRCh38:
- Chr22:29485786
| NEFH | R383* | not provided, Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29876288-29876289
- GRCh38:
- Chr22:29480299-29480300
| NEFH | F15fs | Charcot-Marie-Tooth disease axonal type 2CC, not provided | Conflicting interpretations of pathogenicity
(Dec 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29881723
- GRCh38:
- Chr22:29485734
| NEFH | Q365fs | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Jul 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29886025
- GRCh38:
- Chr22:29490036
| NEFH | A799V | Charcot-Marie-Tooth disease axonal type 2CC, not provided | Uncertain significance
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29886520
- GRCh38:
- Chr22:29490531
| NEFH | K964M | Charcot-Marie-Tooth disease axonal type 2CC, not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29877015
- GRCh38:
- Chr22:29481026
| NEFH | M255T | Charcot-Marie-Tooth disease axonal type 2CC, not provided | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29876657
- GRCh38:
- Chr22:29480668
| NEFH | Q136* | Charcot-Marie-Tooth disease axonal type 2CC | Likely pathogenic
(May 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29876276
- GRCh38:
- Chr22:29480287
| NEFH | A9P | Charcot-Marie-Tooth disease axonal type 2CC | Uncertain significance
(Mar 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29885956
- GRCh38:
- Chr22:29489967
| NEFH | S776C | not provided, Charcot-Marie-Tooth disease axonal type 2CC, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29879516
- GRCh38:
- Chr22:29483527
| NEFH | R346C | Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2CC
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29881828
- GRCh38:
- Chr22:29485839
| NEFH | | Charcot-Marie-Tooth disease axonal type 2CC, not provided, Amyotrophic lateral sclerosis type 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29885861
- GRCh38:
- Chr22:29489872
| NEFH | | Charcot-Marie-Tooth disease axonal type 2CC, Amyotrophic lateral sclerosis type 1, not provided
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29886645-29886646
- GRCh38:
- Chr22:29490656-29490657
| NEFH | P1008fs | Charcot-Marie-Tooth disease axonal type 2CC | Pathogenic
(Jun 24, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr22:29886638-29886639
- GRCh38:
- Chr22:29490649-29490650
| NEFH | D1004fs | not provided | Pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29886413
- GRCh38:
- Chr22:29490424
| NEFH | | Charcot-Marie-Tooth disease axonal type 2CC, Amyotrophic lateral sclerosis type 1, not provided
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29886043
- GRCh38:
- Chr22:29490054
| NEFH | E805A | Charcot-Marie-Tooth disease axonal type 2CC, not provided, Amyotrophic lateral sclerosis type 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29885473
- GRCh38:
- Chr22:29489484
| NEFH | P615L | not provided, Amyotrophic lateral sclerosis type 1, Charcot-Marie-Tooth disease axonal type 2CC,
Amyotrophic lateral sclerosis type 1, Charcot-Marie-Tooth disease axonal type 2CC | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |