ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq27.1-27.3(chrX:139493805-145133362)
Germline
Classification
(1)
Likely 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 | |||
SOX3 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
75 | 282 | |
CDR1 | - | - |
GRCh38 GRCh37 |
- | 194 | |
LDOC1 | - | - |
GRCh38 GRCh37 |
3 | 200 | |
MAGEC1 | - | - |
GRCh38 GRCh37 |
112 | 303 | |
MAGEC2 | - | - |
GRCh38 GRCh37 |
21 | 209 | |
MAGEC3 | - | - |
GRCh38 GRCh37 |
41 | 233 | |
SLITRK2 | - | - |
GRCh38 GRCh37 |
42 | 234 | |
SLITRK4 | - | - |
GRCh38 GRCh37 |
19 | 209 | |
SPANXA1 | - | - |
GRCh38 GRCh37 |
- | 196 | |
SPANXA2 | - | - |
GRCh38 GRCh37 |
- | 196 |
There are 8 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053192.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022