Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:10940867
- GRCh38:
- Chr19:10830191
| DNM2 | G786C, G782C | Charcot-Marie-Tooth disease dominant intermediate B | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:10904475
- GRCh38:
- Chr19:10793799
| DNM2 | G358R | not provided, Charcot-Marie-Tooth disease dominant intermediate B | Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10930693
- GRCh38:
- Chr19:10820017
| DNM2 | L566H, L570H | Charcot-Marie-Tooth disease, Autosomal dominant Charcot-Marie-Tooth disease type 2M | Conflicting interpretations of pathogenicity
(Jul 17, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr19:10922991
- GRCh38:
- Chr19:10812315
| DNM2 | G533C, G537C | Charcot-Marie-Tooth disease, Autosomal dominant Charcot-Marie-Tooth disease type 2M | Conflicting interpretations of pathogenicity
(Jul 17, 2007) | no assertion criteria provided |