| - GRCh37:
- Chr3:12531322
- GRCh38:
- Chr3:12489823
| TSEN2 | A8D | Pontocerebellar hypoplasia type 2B | Pathogenic
(Mar 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr3:12560613
- GRCh38:
- Chr3:12519114
| TSEN2 | F280C, F313C, F339C | Pontocerebellar hypoplasia type 2B | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12574176
- GRCh38:
- Chr3:12532677
| TSEN2 | R393*, R426*, R452* | not provided, Pontoneocerebellar hypoplasia | Conflicting interpretations of pathogenicity
(Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12546725
- GRCh38:
- Chr3:12505226
| TSEN2 | E243K, E302K | Pontocerebellar hypoplasia type 2B | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:12545222-12545228
- GRCh38:
- Chr3:12503723-12503729
| TSEN2 | Y257fs, Y198fs | Pontocerebellar hypoplasia type 2B | Pathogenic
(Dec 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12544805-12544806
- GRCh38:
- Chr3:12503306-12503307
| TSEN2 | Q118fs | Pontocerebellar hypoplasia type 2B | Likely pathogenic
(Jan 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12560634
- GRCh38:
- Chr3:12519135
| TSEN2 | Y287C, Y346C, Y320C | Pontocerebellar hypoplasia type 2B | Likely pathogenic
(Jan 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12560568
- GRCh38:
- Chr3:12519069
| TSEN2 | T324M, T265M, T298M | Inborn genetic diseases, not provided, Pontocerebellar hypoplasia type 2B
| Uncertain significance
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12546666
- GRCh38:
- Chr3:12505167
| TSEN2 | N282S, N223S | Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, not provided
| Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12544883
- GRCh38:
- Chr3:12503384
| TSEN2 | N144S | not specified, Pontocerebellar hypoplasia type 2B | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12531435-12531437
- GRCh38:
- Chr3:12489936-12489938
| TSEN2 | N48del | Pontocerebellar hypoplasia type 2B | Likely pathogenic
(Oct 17, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12573157
- GRCh38:
- Chr3:12531658
| TSEN2 | Q387R, Q446R, Q420R | Pontocerebellar hypoplasia type 2B | Likely pathogenic
(Oct 17, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12545143
- GRCh38:
- Chr3:12503644
| TSEN2 | Q231* | Pontocerebellar hypoplasia type 2B | Pathogenic
(Jun 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:12558134
- GRCh38:
- Chr3:12516635
| TSEN2 | G312R, G253R, G286R | Pontocerebellar hypoplasia type 2B | Pathogenic
(Jun 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:12558158-12558162
- GRCh38:
- Chr3:12516659-12516663
| TSEN2 | | Pontocerebellar hypoplasia type 2B | Pathogenic
(Jan 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:12545105
- GRCh38:
- Chr3:12503606
| TSEN2 | P218L | Pontocerebellar hypoplasia type 2B | Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12545060
- GRCh38:
- Chr3:12503561
| TSEN2 | T203I | Pontocerebellar hypoplasia type 2B | Uncertain significance
(Mar 4, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12544841
- GRCh38:
- Chr3:12503342
| TSEN2 | K130T | Pontoneocerebellar hypoplasia, not specified, not provided,
Pontocerebellar hypoplasia type 2B | Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12544774
- GRCh38:
- Chr3:12503275
| TSEN2 | V108F | Inborn genetic diseases, Pontoneocerebellar hypoplasia, not provided,
Pontocerebellar hypoplasia type 2B | Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12574211
- GRCh38:
- Chr3:12532712
| TSEN2 | | Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 2B
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12573092
- GRCh38:
- Chr3:12531593
| TSEN2 | | not provided, Pontocerebellar hypoplasia type 2B | Conflicting interpretations of pathogenicity
(Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12560610
- GRCh38:
- Chr3:12519111
| TSEN2 | T279R, T338R, T312R | Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 2B
| Conflicting interpretations of pathogenicity
(Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12558126
- GRCh38:
- Chr3:12516627
| TSEN2 | Y309C, Y250C, Y283C | Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 2B
| Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |