ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q12.1(chr8:55813087-55967049)x3
Germline
Classification
(1)
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 | |||
LOC116186928 | - | - | - | GRCh38 | - | 17 |
LOC124174256 | - | - | - | GRCh38 | - | 17 |
LOC124174257 | - | - | - | GRCh38 | - | 17 |
LOC124174258 | - | - | - | GRCh38 | - | 17 |
LOC124174259 | - | - | - | GRCh38 | - | 17 |
LOC129389990 | - | - | - | GRCh38 | - | 17 |
LOC130000401 | - | - | - | GRCh38 | - | 17 |
LOC130000402 | - | - | - | GRCh38 | - | 17 |
LOC130000403 | - | - | - | GRCh38 | - | 17 |
LOC130000404 | - | - | - | GRCh38 | - | 17 |
There are 18 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
|
Benign (1) |
|
Nov 30, 2010 | RCV000134643.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023