ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2
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 | |||
F9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
560 | 743 | |
FMR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
125 | 375 | |
SOX3 | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
75 | 282 | |
ATP11C | - | - |
GRCh38 GRCh37 |
70 | 264 | |
CDR1 | - | - |
GRCh38 GRCh37 |
- | 194 | |
CXorf51A | - | - | - |
GRCh38 GRCh37 |
- | 188 |
CXorf51B | - | - | - |
GRCh38 GRCh37 |
- | 188 |
CXorf66 | - | - | - |
GRCh38 GRCh37 |
3 | 193 |
FGF13 | - | - |
GRCh38 GRCh37 |
34 | 208 | |
FMR1-AS1 | - | - |
GRCh38 GRCh37 |
- | 199 |
There are 23 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 20, 2014 | RCV000167566.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023