ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)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 | |||
CASK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
746 | 978 | |
DDX3X | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
758 | 915 | |
KDM6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
961 | 1158 | |
NDP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18 | 328 | |
NYX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
387 | 540 | |
MAOA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
175 | 333 | |
ZNF674 | No evidence available | No evidence available |
GRCh38 GRCh37 |
53 | 216 | |
CHST7 | - | - |
GRCh38 GRCh37 |
23 | 186 | |
DIPK2B | - | - |
GRCh38 GRCh37 |
16 | 179 | |
DUSP21 | - | - |
GRCh38 GRCh37 |
9 | 164 |
There are 9 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
|
Pathogenic (1) |
|
Jun 23, 2014 | RCV000511364.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024