ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1
Germline
Classification
(1)
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 | |
FAM9A | - | - |
GRCh38 GRCh37 |
19 | 216 | |
FAM9B | - | - |
GRCh38 GRCh37 |
15 | 197 | |
PNPLA4 | - | - |
GRCh38 GRCh37 |
11 | 390 | |
PUDP | - | - |
GRCh38 GRCh37 |
22 | 399 | |
TBL1X | - | - |
GRCh38 GRCh37 |
67 | 251 | |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 5, 2023 | RCV003483409.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024