ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.23(chrX:47633270-48271336)x2
Germline
Classification
(1)
Uncertain significance
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 | |||
ZNF81 | No evidence available | No evidence available |
GRCh38 GRCh37 |
53 | 207 | |
SPACA5 | - | - |
GRCh38 GRCh37 |
2 | 153 | |
SPACA5B | - | - | - |
GRCh38 GRCh37 |
- | 154 |
SSX1 | - | - |
GRCh38 GRCh37 |
32 | 187 | |
SSX3 | - | - |
GRCh38 GRCh37 |
15 | 168 | |
SSX4 | - | - |
GRCh38 GRCh37 |
4 | 161 | |
SSX4B | - | - | - |
GRCh38 GRCh37 |
7 | 164 |
SSX5 | - | - |
GRCh38 GRCh37 |
23 | 177 | |
ZNF182 | - | - |
GRCh38 GRCh37 |
6 | 159 | |
ZNF630 | - | - |
GRCh38 GRCh37 |
1 | 181 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 16, 2018 | RCV000847060.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022