ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)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 | |||
CCDC25 | - | - |
GRCh38 GRCh37 |
9 | 91 | |
CHRNA2 | - | - |
GRCh38 GRCh37 |
738 | 819 | |
CLU | - | - |
GRCh38 GRCh37 |
21 | 101 | |
ELP3 | - | - |
GRCh38 GRCh37 |
27 | 106 | |
EPHX2 | - | - |
GRCh38 GRCh37 |
44 | 125 | |
ESCO2 | - | - |
GRCh38 GRCh37 |
630 | 721 | |
EXTL3 | - | - |
GRCh38 GRCh37 |
467 | 546 | |
FBXO16 | - | - |
GRCh38 GRCh37 |
26 | 106 | |
FZD3 | - | - |
GRCh38 GRCh37 |
23 | 103 | |
HMBOX1 | - | - |
GRCh38 GRCh37 |
9 | 86 |
There are 10 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) |
|
May 8, 2022 | RCV002472907.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023