ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.11-21.2(chrX:24675165-31490279)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 | |||
ARX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
682 | 1007 | |
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9077 | 9366 | |
GK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 240 | |
IL1RAPL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
275 | 442 | |
NR0B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
348 | 511 | |
DCAF8L1 | - | - | - |
GRCh38 GRCh37 |
34 | 184 |
DCAF8L2 | - | - | - |
GRCh38 GRCh37 |
10 | 161 |
FTHL17 | - | - |
GRCh38 GRCh37 |
8 | 173 | |
MAGEB1 | - | - |
GRCh38 GRCh37 |
22 | 182 | |
MAGEB10 | - | - |
GRCh38 GRCh37 |
7 | 158 |
There are 10 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) |
|
Apr 14, 2022 | RCV002473954.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022