ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3
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 | |||
IKBKG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
123 | 420 | |
GDI1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
100 | 327 | |
RPL10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 290 | |
ATP6AP1 | - | - |
GRCh38 GRCh37 |
248 | 477 | |
CTAG1A | - | - |
GRCh38 GRCh37 |
- | 220 | |
CTAG1B | - | - |
GRCh38 GRCh37 |
- | 216 | |
DNASE1L1 | - | - |
GRCh38 GRCh37 |
11 | 318 | |
FAM3A | - | - |
GRCh38 GRCh37 |
9 | 235 | |
FAM50A | - | - |
GRCh38 GRCh37 |
46 | 273 | |
G6PD | - | - |
GRCh38 GRCh37 |
656 | 974 |
There are 5 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) |
|
Mar 22, 2023 | RCV003485333.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024