Links from MedGen
Items: 9
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:34945244
- GRCh38:
- Chr19:34454339
| UBA2 | R373fs | ACCES syndrome | Pathogenic
(Aug 8, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:34934778
- GRCh38:
- Chr19:34443873
| UBA2 | E205fs | ACCES syndrome | Pathogenic
(Jul 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:34924284
- GRCh38:
- Chr19:34433379
| UBA2 | F109fs | ACCES syndrome | Pathogenic
(Jul 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:34949750-34949751
- GRCh38:
- Chr19:34458845-34458846
| UBA2 | Y442fs | ACCES syndrome | Pathogenic
(Jul 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:34951420
- GRCh38:
- Chr19:34460515
| UBA2 | E483K | not provided | Likely pathogenic
(Sep 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:34919408
- GRCh38:
- Chr19:34428503
| LOC130064190, UBA2 | G24V | not provided | Likely pathogenic
(Sep 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:34925778
- GRCh38:
- Chr19:34434873
| UBA2 | R122G | Ectrodactyly | Uncertain significance
(Sep 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:34925778
- GRCh38:
- Chr19:34434873
| UBA2 | R122* | not provided, UBA2-related disorder | Pathogenic
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:34941213-34941214
- GRCh38:
- Chr19:34450308-34450309
| UBA2 | W273fs | Inborn genetic diseases | Pathogenic
(May 6, 2023) | criteria provided, single submitter |