ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.4(chrX:37722819-38713056)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 | |||
OTC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
859 | 1011 | |
TSPAN7 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 225 | |
H2AP | - | - | - |
GRCh38 GRCh37 |
- | 156 |
MID1IP1 | - | - |
GRCh38 GRCh37 |
6 | 146 | |
RPGR | - | - |
GRCh38 GRCh37 |
1492 | 1663 | |
SRPX | - | - |
GRCh38 GRCh37 |
33 | 186 | |
SYTL5 | - | - | - |
GRCh38 GRCh37 |
36 | 193 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 28, 2021 | RCV002475751.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023