ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1
Germline
Classification
(1)
Pathogenic
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 | |||
AP1S2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
63 | 246 | |
CDKL5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1184 | 1938 | |
NHS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
523 | 706 | |
RS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
122 | 861 | |
BEND2 | - | - | - |
GRCh38 GRCh37 |
49 | 220 |
CTPS2 | - | - |
GRCh38 GRCh37 |
17 | 191 | |
GRPR | - | - |
GRCh38 GRCh37 |
25 | 206 | |
LINC01456 | - | - | - | GRCh38 | - | 78 |
LOC101928389 | - | - | - | GRCh38 | - | 80 |
LOC116309147 | - | - | - | GRCh38 | - | 80 |
There are 44 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) |
|
Mar 24, 2014 | RCV000141732.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024