ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_204033173)_(208209798_?)del
Germline
Classification
(1)
Likely 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 | |||
AVPR1B | - | - |
GRCh38 GRCh37 |
38 | 55 | |
AVPR1B-DT | - | - | - | GRCh38 | - | 3 |
BLACAT1 | - | - | GRCh38 | - | 3 | |
C1orf116 | - | - |
GRCh38 GRCh37 |
9 | 27 | |
C4BPA | - | - |
GRCh38 GRCh37 |
56 | 73 | |
C4BPB | - | - |
GRCh38 GRCh37 |
39 | 56 | |
CD34 | - | - |
GRCh38 GRCh37 |
22 | 41 | |
CD46 | - | - |
GRCh38 GRCh37 |
318 | 366 | |
CD55 | - | - |
GRCh38 GRCh37 |
212 | 235 | |
CDK18 | - | - |
GRCh38 GRCh37 |
32 | 49 |
There are 270 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 20, 2018 | RCV000754138.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023