ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.31(chr12:8839030-9134304)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 | |||
A2M | - | - |
GRCh38 GRCh37 |
- | 114 | |
A2M-AS1 | - | - | - | GRCh38 | - | 11 |
A2ML1 | - | - |
GRCh38 GRCh37 |
1364 | 1562 | |
KLRG1 | - | - |
GRCh38 GRCh37 |
8 | 176 | |
LINC00612 | - | - | - | GRCh38 | - | 11 |
LOC126861444 | - | - | - | GRCh38 | - | 12 |
LOC130007337 | - | - | - | GRCh38 | - | 12 |
LOC130007338 | - | - | - | GRCh38 | - | 12 |
LOC130007339 | - | - | - | GRCh38 | - | 12 |
LOC130007340 | - | - | - | GRCh38 | - | 11 |
There are 4 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000141433.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023