ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.1(chrX:100439132-100918059)
Germline
Classification
(1)
Uncertain significance
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 | |||
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
710 | 887 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1250 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 234 | |
ARMCX1 | - | - |
GRCh38 GRCh37 |
17 | 177 | |
ARMCX2 | - | - |
GRCh38 GRCh37 |
29 | 189 | |
ARMCX3 | - | - |
GRCh38 GRCh37 |
8 | 169 | |
ARMCX3-AS1 | - | - | - |
GRCh37 GRCh37 |
- | 158 |
ARMCX4 | - | - |
GRCh38 GRCh37 |
6 | 170 | |
ARMCX6 | - | - |
GRCh38 GRCh37 |
10 | 170 | |
DRP2 | - | - |
GRCh38 GRCh37 |
419 | 587 |
There are 4 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986252.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024