ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1
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 | |||
CA1 | - | - |
GRCh38 GRCh37 |
20 | 59 | |
CA13 | - | - |
GRCh38 GRCh37 |
15 | 55 | |
CA2 | - | - |
GRCh38 GRCh37 |
150 | 205 | |
CA3 | - | - |
GRCh38 GRCh37 |
2 | 47 | |
CA3-AS1 | - | - | - | GRCh38 | - | 33 |
E2F5 | - | - |
GRCh38 GRCh37 |
12 | 58 | |
E2F5-DT | - | - | - | GRCh38 | - | 15 |
LOC111089944 | - | - | - | GRCh38 | - | 15 |
LOC121740720 | - | - | - | GRCh38 | - | 15 |
LOC129390018 | - | - | - | GRCh38 | - | 16 |
There are 17 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) |
|
Dec 22, 2010 | RCV000136883.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024