| - GRCh37:
- Chr2:152698520
- GRCh38:
- Chr2:151842006
| CACNB4 | R214H, R319H, R382H, R303H, R366H, R400H, R182H, R290H, R353H | Epilepsy, idiopathic generalized, susceptibility to, 9 | not provided | no assertion provided |
| - GRCh37:
- Chr2:152711799
- GRCh38:
- Chr2:151855285
| CACNB4 | A102V, A134V, A210V, A223V, A239V, A273V, A286V, A302V, A320V | Epilepsy, idiopathic generalized, susceptibility to, 9 | Uncertain significance
(Apr 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:152727075
- GRCh38:
- Chr2:151870561
| CACNB4 | V170I, V183I, V199I | Epilepsy, idiopathic generalized, susceptibility to, 9 | Uncertain significance
(Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:152940093
- GRCh38:
- Chr2:152083579
| CACNB4 | | Epilepsy, idiopathic generalized, susceptibility to, 9 | Uncertain significance
(Jun 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:152739876
- GRCh38:
- Chr2:151883362
| CACNB4 | | Episodic ataxia type 5, Epilepsy, idiopathic generalized, susceptibility to, 9, Idiopathic generalized epilepsy
| Likely benign
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:152954900
- GRCh38:
- Chr2:152098386
| CACNB4 | S31R, S13R | Epilepsy, idiopathic generalized, susceptibility to, 9, Episodic ataxia type 5, not specified,
Idiopathic generalized epilepsy | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:152695726
- GRCh38:
- Chr2:151839212
| CACNB4 | E490D, E272D, E393D, E428D, E380D, E409D, E456D, E304D, E443D, E472D | Epilepsy, idiopathic generalized, susceptibility to, 9, not specified, Episodic ataxia type 5
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:152727364
- GRCh38:
- Chr2:151870850
| CACNB4 | Q170fs, Q18fs, Q157fs, Q186fs, Q204fs | Epilepsy, idiopathic generalized, susceptibility to, 9 | Pathogenic
(May 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:152955482
- GRCh38:
- Chr2:152098968
| CACNB4 | P15R | Epilepsy, idiopathic generalized, susceptibility to, 9, Episodic ataxia type 5, not specified,
not provided, Idiopathic generalized epilepsy, Juvenile myoclonic epilepsy,
Episodic ataxia type 5 | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:152695841
- GRCh38:
- Chr2:151839327
| CACNB4 | R452K, R342K, R355K, R390K, R418K, R266K, R434K, R405K, R234K, R371K | not provided, Idiopathic generalized epilepsy | Conflicting interpretations of pathogenicity
(Aug 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:152955521
- GRCh38:
- Chr2:152099007
| CACNB4 | S2F | Episodic ataxia type 5, Epilepsy, idiopathic generalized, susceptibility to, 9, not specified,
not provided, Epilepsy, idiopathic generalized, susceptibility to, 9, Idiopathic generalized epilepsy,
Juvenile myoclonic epilepsy, Episodic ataxia type 5 | Conflicting interpretations of pathogenicity
(Jul 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:152737393
- GRCh38:
- Chr2:151880879
| CACNB4 | C104F, C86F, C57F, C70F | not provided, Episodic ataxia type 5, Idiopathic generalized epilepsy,
Juvenile myoclonic epilepsy | Conflicting interpretations of pathogenicity
(Jul 26, 2022) | criteria provided, conflicting interpretations |