ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:3146027-6362229)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 |
2203 | 2314 | |
RBFOX1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
538 | 689 | |
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 224 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
951 | 1250 | |
ADCY9 | - | - |
GRCh38 GRCh37 |
87 | 137 | |
ALG1 | - | - |
GRCh38 GRCh37 |
693 | 901 | |
ANKS3 | - | - |
GRCh38 GRCh37 |
77 | 112 | |
C16orf89 | - | - | - |
GRCh38 GRCh37 |
2 | 37 |
C16orf90 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
C16orf96 | - | - | - |
GRCh38 GRCh37 |
23 | 62 |
There are 42 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 12, 2014 | RCV000511703.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024