ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q22.1(chr16:66945487-67024713)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 | |||
CES3 | - | - |
GRCh38 GRCh37 |
35 | 77 | |
CES4A | - | - | - |
GRCh38 GRCh37 |
37 | 77 |
LOC112469016 | - | - | - | GRCh38 | - | 17 |
LOC125177333 | - | - | - | GRCh38 | - | 17 |
LOC126862377 | - | - | - | GRCh38 | - | 19 |
LOC129390803 | - | - | - | GRCh38 | - | 16 |
LOC129390804 | - | - | - | GRCh38 | - | 16 |
LOC130059169 | - | - | - | GRCh38 | - | 16 |
LOC130059170 | - | - | - | GRCh38 | - | 16 |
LOC130059171 | - | - | - | GRCh38 | - | 16 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 30, 2010 | RCV000141311.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023