ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3
Germline
Classification
(1)
Uncertain significance
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 | |
B3GNT9 | - | - | - |
GRCh38 GRCh37 |
13 | 51 |
CA7 | - | - |
GRCh38 GRCh37 |
12 | 46 | |
CDH16 | - | - |
GRCh38 GRCh37 |
56 | 91 | |
CES2 | - | - |
GRCh38 GRCh37 |
26 | 68 | |
CES3 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
CES4A | - | - | - |
GRCh38 GRCh37 |
36 | 75 |
CIAO2B | - | - |
GRCh38 GRCh37 |
5 | 44 | |
CKLF | - | - |
GRCh38 GRCh37 |
- | 38 | |
CKLF-CMTM1 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
There are 27 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
|
Uncertain significance (1) |
|
Feb 1, 2016 | RCV000510388.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024