ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
38 | 212 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
72 | 122 | |
LINC01569 | - | - | - | GRCh38 | - | 13 |
LINC02861 | - | - | - | GRCh38 | - | 15 |
LOC105371062 | - | - | - | GRCh38 | - | 12 |
LOC121530613 | - | - | - | GRCh38 | - | 12 |
LOC125146381 | - | - | - | GRCh38 | - | 19 |
LOC125146382 | - | - | - | GRCh38 | - | 19 |
LOC125146383 | - | - | - | GRCh38 | - | 13 |
There are 27 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 11, 2011 | RCV000137944.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023