ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3
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 |
2186 | 2297 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 220 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
949 | 1246 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
87 | 137 | |
BICDL2 | - | - |
GRCh38 GRCh37 |
6 | 46 | |
C16orf90 | - | - | - |
GRCh38 GRCh37 |
- | 46 |
C16orf96 | - | - | - |
GRCh38 GRCh37 |
23 | 62 |
CDIP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 52 | |
CLDN6 | - | - |
GRCh38 GRCh37 |
15 | 55 | |
CLDN9 | - | - |
GRCh38 GRCh37 |
34 | 75 |
There are 48 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 13, 2019 | RCV001006745.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023