ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_3727698)_(4802591_?)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 | |||
CREBBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2165 | 2276 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
72 | 122 | |
ANKS3 | - | - |
GRCh38 GRCh37 |
59 | 94 | |
C16orf96 | - | - | - |
GRCh38 GRCh37 |
23 | 62 |
CDIP1 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 47 | |
CORO7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 96 | |
CORO7-PAM16 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 167 |
DNAAF8 | - | - | - |
GRCh38 GRCh37 |
- | 35 |
DNAJA3 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 75 | |
GLIS2 | - | - |
GRCh38 GRCh38 GRCh37 |
231 | 273 |
There are 58 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 25, 2018 | RCV000813975.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023