ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.11(chr12:109081325-109154941)x3
Germline
Classification
(1)
Likely benign
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 | |||
ACACB | - | - |
GRCh38 GRCh37 |
265 | 294 | |
ALKBH2 | - | - |
GRCh38 GRCh37 |
14 | 30 | |
LOC130008712 | - | - | - | GRCh38 | - | 17 |
LOC130008713 | - | - | - | GRCh38 | - | 5 |
UNG | - | - |
GRCh38 GRCh37 |
262 | 295 | |
USP30 | - | - |
GRCh38 GRCh37 |
24 | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Nov 30, 2010 | RCV000135207.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023