ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)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 | |||
CASK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
769 | 955 | |
NDP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
17 | 320 | |
MAOA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
169 | 326 | |
EFHC2 | - | - |
GRCh38 GRCh37 |
45 | 198 | |
LOC113875026 | - | - | - | GRCh38 | - | 73 |
LOC125467738 | - | - | - | GRCh38 | - | 73 |
LOC126863241 | - | - | - | GRCh38 | - | 73 |
LOC126863242 | - | - | - | GRCh38 | - | 74 |
LOC126863243 | - | - | - | GRCh38 | - | 74 |
LOC129391298 | - | - | - | GRCh38 | - | 74 |
There are 11 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053092.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023