ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:154124170-154528181)x1
Germline
Classification
(1)
not provided
no classification 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 |
902 | 1172 | |
RAB39B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 317 | |
BRCC3 | - | - |
GRCh38 GRCh37 |
17 | 264 | |
CLIC2 | - | - |
GRCh38 GRCh37 |
29 | 271 | |
CMC4 | - | - | - |
GRCh38 GRCh37 |
8 | 257 |
FUNDC2 | - | - |
GRCh38 GRCh37 |
5 | 251 | |
MTCP1 | - | - |
GRCh38 GRCh37 |
- | 248 | |
VBP1 | - | - |
GRCh38 GRCh37 |
4 | 242 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000509496.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022