ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq26.3-27.3(chrX:137551658-145685497)
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 | |||
F9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
561 | 744 | |
SOX3 | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
75 | 282 | |
ATP11C | - | - |
GRCh38 GRCh37 |
70 | 264 | |
CDR1 | - | - |
GRCh38 GRCh37 |
- | 194 | |
CXorf66 | - | - | - |
GRCh38 GRCh37 |
3 | 193 |
FGF13 | - | - |
GRCh38 GRCh37 |
34 | 208 | |
LDOC1 | - | - |
GRCh38 GRCh37 |
3 | 200 | |
MAGEC1 | - | - |
GRCh38 GRCh37 |
112 | 303 | |
MAGEC2 | - | - |
GRCh38 GRCh37 |
21 | 209 | |
MAGEC3 | - | - |
GRCh38 GRCh37 |
41 | 233 |
There are 13 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986290.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024