ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_99917153)_(100662891_?)dup
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 |
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 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 338 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
CENPI | - | - |
GRCh38 GRCh37 |
25 | 190 | |
CSTF2 | - | - |
GRCh38 GRCh37 |
17 | 186 | |
DRP2 | - | - |
GRCh38 GRCh37 |
417 | 582 | |
NOX1 | - | - |
GRCh38 GRCh37 |
41 | 212 | |
RPL36A | - | - |
GRCh38 GRCh37 |
- | 171 |
There are 6 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) |
|
May 26, 2021 | RCV001871045.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023