ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q21-22.1(chr16:64981506-66806661)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 | |||
BEAN1 | - | - |
GRCh38 GRCh37 |
33 | 72 | |
CDH11 | - | - |
GRCh38 GRCh37 |
93 | 116 | |
CDH5 | - | - |
GRCh38 GRCh37 |
67 | 99 | |
CKLF | - | - |
GRCh38 GRCh37 |
- | 38 | |
CKLF-CMTM1 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
CMTM1 | - | - |
GRCh38 GRCh37 |
- | 45 | |
CMTM2 | - | - |
GRCh38 GRCh37 |
14 | 46 | |
CMTM3 | - | - |
GRCh38 GRCh37 |
- | 39 | |
CMTM4 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
DYNC1LI2 | - | - |
GRCh38 GRCh37 |
20 | 53 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 1, 2018 | RCV000996430.17 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024