ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3
Germline
Classification
(1)
Uncertain significance
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 | |
C16orf96 | - | - | - |
GRCh38 GRCh37 |
23 | 62 |
CDIP1 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 47 | |
CORO7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 96 | |
CORO7-PAM16 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 167 |
DNAJA3 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 75 | |
GLIS2 | - | - |
GRCh38 GRCh38 GRCh37 |
231 | 273 | |
GLIS2-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 11 |
HMOX2 | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 55 |
There are 46 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050956.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023