ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
ANKRD46 | - | - | - |
GRCh38 GRCh37 |
12 | 53 |
COX6C | - | - |
GRCh38 GRCh37 |
7 | 51 | |
FBXO43 | - | - |
GRCh38 GRCh37 |
39 | 82 | |
GRHL2 | - | - |
GRCh38 GRCh37 |
215 | 282 | |
GRHL2-DT | - | - | - | GRCh38 | - | 22 |
LINC02844 | - | - | - | GRCh38 | - | 19 |
LINC03044 | - | - | - | GRCh38 | - | 18 |
LOC108254662 | - | - | - | GRCh38 | - | 17 |
LOC110120801 | - | - | - | GRCh38 | - | 19 |
LOC111429623 | - | - | - | GRCh38 | - | 18 |
There are 88 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
|
Likely pathogenic (1) |
|
Jul 5, 2011 | RCV000137322.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024