ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2
Germline
Classification
(1)
Uncertain significance
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 | |||
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
701 | 875 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1239 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 232 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
ARMCX4 | - | - |
GRCh38 GRCh37 |
6 | 169 | |
CENPI | - | - |
GRCh38 GRCh37 |
25 | 190 | |
DRP2 | - | - |
GRCh38 GRCh37 |
417 | 582 | |
HNRNPH2 | - | - |
GRCh38 GRCh37 |
- | 200 | |
LOC126863293 | - | - | - | GRCh38 | - | 83 |
LOC130068492 | - | - | - | GRCh38 | - | 78 |
There are 12 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
|
Uncertain significance (1) |
|
Mar 10, 2014 | RCV000143738.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024