ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq27.3-28(chrX:146896288-149621145)x1
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 | |||
AFF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
271 | 466 | |
FMR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
125 | 375 | |
IDS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
416 | 1072 | |
EOLA1 | - | - |
GRCh38 GRCh37 |
3 | 219 | |
EOLA1-DT | - | - | - | GRCh38 | - | 107 |
FMR1-AS1 | - | - |
GRCh38 GRCh37 |
- | 199 | |
FMR1NB | - | - | - |
GRCh38 GRCh37 |
12 | 205 |
FRAXA | - | - | - | GRCh38 | - | 147 |
FRAXE | - | - | - | GRCh38 | - | 101 |
HSFX2 | - | - | - |
GRCh38 GRCh37 |
- | 220 |
There are 44 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050631.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023