ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)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 | |||
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 53 | |
ATP6V0D1 | - | - |
GRCh38 GRCh37 |
7 | 37 | |
B3GNT9 | - | - | - |
GRCh38 GRCh37 |
13 | 51 |
BEAN1 | - | - |
GRCh38 GRCh37 |
33 | 72 | |
BEAN1-AS1 | - | - | - | GRCh38 | - | 19 |
CA7 | - | - |
GRCh38 GRCh37 |
12 | 46 | |
CDH16 | - | - |
GRCh38 GRCh37 |
56 | 91 | |
CDH5 | - | - |
GRCh38 GRCh37 |
67 | 99 | |
CES2 | - | - |
GRCh38 GRCh37 |
26 | 68 | |
CES3 | - | - |
GRCh38 GRCh37 |
32 | 73 |
There are 105 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) |
|
Jul 30, 2010 | RCV000134709.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024