ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_100499986)_(100662891_?)del
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 | |||
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
699 | 873 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1235 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 232 | |
DRP2 | - | - |
GRCh38 GRCh37 |
412 | 577 | |
RPL36A | - | - |
GRCh38 GRCh37 |
- | 170 | |
RPL36A-HNRNPH2 | - | - | - |
GRCh38 GRCh37 |
- | 1263 |
TAF7L | - | - |
GRCh38 GRCh37 |
22 | 185 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 3, 2022 | RCV003122104.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024