ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | 54 | |
B3GNT9 | - | - | - |
GRCh38 GRCh37 |
17 | 57 |
BEAN1 | - | - |
GRCh38 GRCh37 |
38 | 78 | |
CA7 | - | - |
GRCh38 GRCh37 |
14 | 49 | |
CDH16 | - | - |
GRCh38 GRCh37 |
66 | 102 | |
CDH5 | - | - |
GRCh38 GRCh37 |
76 | 109 | |
CES2 | - | - |
GRCh38 GRCh37 |
30 | 73 | |
CES3 | - | - |
GRCh38 GRCh37 |
35 | 77 | |
CES4A | - | - | - |
GRCh38 GRCh37 |
37 | 77 |
CIAO2B | - | - |
GRCh38 GRCh37 |
7 | 47 |
There are 22 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 21, 2022 | RCV003485115.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024