ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153826261-154401171)x2
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 |
951 | 1225 | |
DKC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
465 | 679 | |
BRCC3 | - | - |
GRCh38 GRCh37 |
17 | 266 | |
CMC4 | - | - |
GRCh38 GRCh37 |
8 | 259 | |
CTAG1B | - | - |
GRCh38 GRCh37 |
- | 216 | |
CTAG2 | - | - |
GRCh38 GRCh37 |
28 | 234 | |
F8A1 | - | - |
GRCh38 GRCh37 |
- | 228 | |
FUNDC2 | - | - |
GRCh38 GRCh37 |
6 | 254 | |
GAB3 | - | - |
GRCh38 GRCh37 |
23 | 231 | |
H2AB1 | - | - |
GRCh38 GRCh37 |
- | 230 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 14, 2022 | RCV003483992.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024