ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0
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 | |||
FRMD7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
402 | 578 | |
GPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
935 | 1114 | |
ARHGAP36 | - | - |
GRCh38 GRCh37 |
23 | 206 | |
ENOX2 | - | - |
GRCh38 GRCh37 |
29 | 204 | |
GPC4 | - | - |
GRCh38 GRCh37 |
76 | 254 | |
HS6ST2 | - | - |
GRCh38 GRCh37 |
52 | 234 | |
IGSF1 | - | - |
GRCh38 GRCh37 |
160 | 342 | |
MBNL3 | - | - |
GRCh38 GRCh37 |
1 | 183 | |
OR13H1 | - | - | - |
GRCh38 GRCh37 |
31 | 215 |
RAP2C | - | - |
GRCh38 GRCh37 |
3 | 177 |
There are 3 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000239967.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022