ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:154078238-154563469)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
F8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
951 | 1225 | |
RAB39B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
78 | 321 | |
BRCC3 | - | - |
GRCh38 GRCh37 |
17 | 266 | |
CLIC2 | - | - |
GRCh38 GRCh37 |
30 | 274 | |
CMC4 | - | - | - |
GRCh38 GRCh37 |
8 | 259 |
F8A1 | - | - |
GRCh38 GRCh37 |
- | 228 | |
FUNDC2 | - | - |
GRCh38 GRCh37 |
6 | 254 | |
H2AB1 | - | - |
GRCh38 GRCh37 |
- | 230 | |
MTCP1 | - | - |
GRCh38 GRCh37 |
- | 250 | |
VBP1 | - | - |
GRCh38 GRCh37 |
5 | 245 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 16, 2020 | RCV001260057.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022