ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.31-22.2(chrX:6954111-10636640)x1
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 | |||
ANOS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
285 | 516 | |
MID1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
360 | 616 | |
STS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
128 | 512 | |
CLCN4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
598 | 772 | |
FAM9A | - | - |
GRCh38 GRCh37 |
20 | 219 | |
FAM9B | - | - |
GRCh38 GRCh37 |
18 | 202 | |
GPR143 | - | - |
GRCh38 GRCh37 |
386 | 569 | |
PNPLA4 | - | - |
GRCh38 GRCh37 |
11 | 400 | |
PUDP | - | - |
GRCh38 GRCh37 |
22 | 406 | |
SHROOM2 | - | - |
GRCh38 GRCh37 |
163 | 347 |
There are 5 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 26, 2015 | RCV000511565.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024