ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q23(chr3:139525129-140095577)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 | |||
CLSTN2 | - | - |
GRCh38 GRCh37 |
74 | 109 | |
COPB2-DT | - | - | - | GRCh38 | - | 159 |
LOC112903840 | - | - | - | GRCh38 | - | 15 |
LOC121048714 | - | - | - | GRCh38 | - | 15 |
LOC126806824 | - | - | - | GRCh38 | - | 27 |
LOC129389143 | - | - | - | GRCh38 | - | 15 |
LOC129937662 | - | - | - | GRCh38 | - | 15 |
LOC129937663 | - | - | - | GRCh38 | - | 15 |
LOC129937664 | - | - | - | GRCh38 | - | 15 |
LOC129937665 | - | - | - | GRCh38 | - | 15 |
There are 2 more genes 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) |
|
Aug 12, 2011 | RCV000051536.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023