Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:140477848
- GRCh38:
- Chr7:140778048
| BRAF | V399E, V435E, V450E, V453E, V465E, V487E, V490E, V527E | Arteriovenous malformation | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:100403201
- GRCh38:
- Chr7:100805579
| EPHB4, LOC126860124 | F867S | Arteriovenous malformation | Pathogenic
(Aug 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:533879-533884
- GRCh38:
- Chr11:533879-533884
| HRAS, LRRC56 | | Arteriovenous malformation | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr5:89971137
- GRCh38:
- Chr5:90675320
| ADGRV1 | I1730F | Cerebral arteriovenous malformation, Arteriovenous malformation, Hand tremor,
Tremor | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:1270816
- GRCh38:
- Chr16:1220816
| CACNA1H | S2295F, S2289F | Arteriovenous malformation, Cerebral arteriovenous malformation, Tremor,
Hand tremor, Hyperaldosteronism, familial, type IV, Epilepsy, childhood absence, susceptibility to, 6
| Uncertain significance
(Jan 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:121746134
- GRCh38:
- Chr2:120988558
| GLI2 | T882S, T865S, T740S | Arteriovenous malformation, Cerebral arteriovenous malformation, Hand tremor,
Tremor, Exostoses, Hyperactivity,
Seizure, Deeply set eye, Secondary microcephaly,
Poor speech, Intellectual disability ...see more | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |