ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2
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 | |||
ANOS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
268 | 497 | |
STS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
121 | 498 | |
VCX3A | No evidence available | Dosage sensitivity unlikely |
GRCh38 GRCh37 |
5 | 321 | |
PNPLA4 | - | - |
GRCh38 GRCh37 |
11 | 390 | |
PUDP | - | - |
GRCh38 GRCh37 |
22 | 399 | |
VCX | - | - |
GRCh38 GRCh37 |
6 | 358 | |
VCX2 | - | - |
GRCh38 GRCh37 |
3 | 287 | |
VCX3B | - | - |
GRCh38 GRCh37 |
75 | 293 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
May 8, 2017 | RCV000515607.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022