ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:154791149-155996431)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 |
907 | 1179 | |
RAB39B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 319 | |
TMLHE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
60 | 282 | |
VAMP7 | No evidence available | No evidence available |
GRCh38 GRCh38 |
8 | 127 | |
BRCC3 | - | - |
GRCh38 GRCh37 |
17 | 266 | |
CLIC2 | - | - |
GRCh38 GRCh37 |
29 | 273 | |
CMC4 | - | - |
GRCh38 GRCh37 |
8 | 259 | |
F8A1 | - | - |
GRCh38 GRCh37 |
- | 227 | |
F8A2 | - | - | - |
GRCh38 GRCh37 |
- | 214 |
F8A3 | - | - | - |
GRCh38 GRCh37 |
- | 212 |
There are 36 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054323.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023