ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq27.1-27.2(chrX:138768091-140805967)x3
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
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 |
LDOC1 | - | - |
GRCh38 GRCh37 |
3 | 200 | |
MCF2 | - | - |
GRCh38 GRCh37 |
48 | 237 | |
SPANXA1 | - | - |
GRCh38 GRCh37 |
- | 196 | |
SPANXA2 | - | - |
GRCh38 GRCh37 |
- | 196 | |
SPANXB1 | - | - |
GRCh38 GRCh37 |
- | 188 | |
SPANXC | - | - |
GRCh38 GRCh37 |
2 | 200 |
There is 1 more gene 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 |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 9, 2015 | RCV000511988.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024