ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_57016057)_(58768132_?)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 | |||
CNOT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
530 | 577 | |
ADGRG1 | - | - |
GRCh38 GRCh37 |
935 | 962 | |
ADGRG3 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
ADGRG5 | - | - |
GRCh38 GRCh37 |
38 | 66 | |
ARL2BP | - | - |
GRCh38 GRCh37 |
95 | 120 | |
CCDC102A | - | - | - |
GRCh38 GRCh37 |
41 | 69 |
CCDC113 | - | - |
GRCh38 GRCh37 |
- | 13 | |
CCL17 | - | - |
GRCh38 GRCh37 |
6 | 32 | |
CCL22 | - | - |
GRCh38 GRCh37 |
6 | 32 | |
CETP | - | - |
GRCh38 GRCh37 |
251 | 286 |
There are 26 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 23, 2022 | RCV003122679.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023