ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_72978569)_(75722716_?)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 | |||
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
494 | 534 | |
ADPGK | - | - |
GRCh38 GRCh37 |
24 | 69 | |
ARID3B | - | - |
GRCh38 GRCh37 |
24 | 63 | |
BBS4 | - | - |
GRCh38 GRCh37 |
718 | 758 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 60 |
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 113 | |
CD276 | - | - |
GRCh38 GRCh37 |
46 | 81 | |
CLK3 | - | - |
GRCh38 GRCh37 |
26 | 77 | |
COMMD4 | - | - |
GRCh38 GRCh37 |
11 | 49 | |
COX5A | - | - |
GRCh38 GRCh37 |
11 | 60 |
There are 33 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) |
|
Dec 8, 2021 | RCV001863697.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023