ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1
Germline
Classification
(1)
Pathogenic
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 | |||
BPNT2 | - | - |
GRCh38 GRCh37 |
257 | 319 | |
CERNA3 | - | - | - | GRCh38 | - | 22 |
CHCHD7 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
CYP7A1 | - | - |
GRCh38 GRCh37 |
136 | 197 | |
FAM110B | - | - |
GRCh38 GRCh37 |
15 | 42 | |
LINC00588 | - | - | - |
GRCh38 GRCh38 |
- | 17 |
LINC00968 | - | - | - | GRCh38 | - | 16 |
LINC01602 | - | - | - |
GRCh38 GRCh37 |
- | 27 |
LINC01606 | - | - | - |
GRCh38 GRCh38 |
- | 17 |
LINC03018 | - | - | - | GRCh38 | - | 18 |
There are 97 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054240.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023