ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
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 | |||
STS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
115 | 479 | |
LOC113875037 | - | - | - | GRCh38 | - | 170 |
LOC125446266 | - | - | - | GRCh38 | - | 171 |
LOC126863197 | - | - | - | GRCh38 | - | 163 |
LOC126863198 | - | - | - | GRCh38 | - | 177 |
LOC130067909 | - | - | - | GRCh38 | - | 165 |
LOC130067910 | - | - | - | GRCh38 | - | 167 |
LOC130067911 | - | - | - | GRCh38 | - | 168 |
LOC130067912 | - | - | - | GRCh38 | - | 168 |
LOC130067913 | - | - | - | GRCh38 | - | 168 |
There are 9 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) |
|
Feb 22, 2024 | RCV003881710.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024