ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2
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 | |
OCRL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
721 | 913 | |
ZDHHC9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
237 | 411 | |
AIFM1 | - | - |
GRCh38 GRCh37 |
3 | 651 | |
APLN | - | - |
GRCh38 GRCh37 |
7 | 184 | |
ARHGAP36 | - | - |
GRCh38 GRCh37 |
23 | 206 | |
BCORL1 | - | - |
GRCh38 GRCh37 |
271 | 441 | |
ELF4 | - | - |
GRCh38 GRCh37 |
35 | 205 | |
ENOX2 | - | - |
GRCh38 GRCh37 |
29 | 204 | |
ENOX2-AS1 | - | - | - | GRCh38 | - | 81 |
There are 119 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052446.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023