| - GRCh37:
- Chr12:106804724
- GRCh38:
- Chr12:106410946
| POLR3B | E363K, E305K | Charcot-Marie-Tooth disease, demyelinating, IIA 1I | Pathogenic
(Jun 17, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:106820957-106820958
- GRCh38:
- Chr12:106427179-106427180
| POLR3B | | not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism,
Charcot-Marie-Tooth disease, demyelinating, IIA 1I | Benign
(Dec 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:106751911-106751915
- GRCh38:
- Chr12:106358133-106358137
| POLR3B | | not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Charcot-Marie-Tooth disease, demyelinating, IIA 1I,
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | Benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:106820957-106820958
- GRCh38:
- Chr12:106427179-106427180
| POLR3B | | not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Charcot-Marie-Tooth disease, demyelinating, IIA 1I,
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | Benign
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:106897897
- GRCh38:
- Chr12:106504119
| POLR3B, LOC100287944 | R1046H, R988H | Charcot-Marie-Tooth disease, demyelinating, IIA 1I, not provided | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:106820997
- GRCh38:
- Chr12:106427219
| POLR3B | D317V, D375V | not provided | Likely pathogenic
(Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:106804731
- GRCh38:
- Chr12:106410953
| POLR3B | A365V, A307V | Charcot-Marie-Tooth disease, demyelinating, IIA 1I | Pathogenic
(Jun 17, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:106786858
- GRCh38:
- Chr12:106393080
| POLR3B | E258A, E200A | not provided, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism,
Charcot-Marie-Tooth disease, demyelinating, IIA 1I, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign/Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |