ClinVar Genomic variation as it relates to human health
NC_000021.8:g.(?_44838120)_(45629566_?)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 | |||
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
79 | 187 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
18 | 117 | |
CSTB | - | - |
GRCh38 GRCh37 |
112 | 276 | |
GATD3 | - | - |
GRCh38 GRCh37 |
6 | 110 | |
HSF2BP | - | - |
GRCh38 GRCh37 |
23 | 131 | |
PDXK | - | - |
GRCh38 GRCh37 |
50 | 159 | |
PWP2 | - | - |
GRCh38 GRCh37 |
65 | 173 | |
RRP1 | - | - |
GRCh38 GRCh37 |
41 | 145 | |
RRP1B | - | - |
GRCh38 GRCh37 |
37 | 147 | |
SIK1 | - | - |
GRCh38 GRCh37 |
957 | 1058 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 23, 2019 | RCV001031044.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022