ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:154895862-155336084)
Germline
Classification
(1)
Pathogenic
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 |
951 | 1225 | |
RAB39B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
78 | 321 | |
TMLHE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
62 | 285 | |
BRCC3 | - | - |
GRCh38 GRCh37 |
17 | 266 | |
CLIC2 | - | - |
GRCh38 GRCh37 |
30 | 274 | |
CMC4 | - | - |
GRCh38 GRCh37 |
8 | 259 | |
F8A1 | - | - |
GRCh38 GRCh37 |
- | 228 | |
F8A2 | - | - | - |
GRCh38 GRCh37 |
- | 214 |
F8A3 | - | - | - |
GRCh38 GRCh37 |
- | 212 |
FUNDC2 | - | - |
GRCh38 GRCh37 |
6 | - |
There are 26 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 2, 2022 | RCV004555194.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024