ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CYBB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 865 | |
OTC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
891 | 1043 | |
TSPAN7 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
68 | 226 | |
DYNLT3 | - | - |
GRCh38 GRCh37 |
6 | 160 | |
H2AP | - | - | - |
GRCh38 GRCh37 |
- | 158 |
LANCL3 | - | - | - |
GRCh38 GRCh37 |
30 | 192 |
RPGR | - | - |
GRCh38 GRCh37 |
1492 | 1664 | |
SRPX | - | - |
GRCh38 GRCh37 |
41 | 194 | |
SYTL5 | - | - | - |
GRCh38 GRCh37 |
47 | 206 |
XK | - | - |
GRCh38 GRCh37 |
70 | 231 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 27, 2019 | RCV001258967.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023