ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1
Germline
Classification
(1)
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 | |||
AKIRIN2 | - | - |
GRCh38 GRCh37 |
2 | 23 | |
ANKRD6 | - | - |
GRCh38 GRCh37 |
55 | 85 | |
BACH2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 450 | |
C6orf163 | - | - | - |
GRCh38 GRCh37 |
3 | - |
CASP8AP2 | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 90 | |
CFAP206 | - | - | - |
GRCh38 GRCh37 |
22 | - |
CGA | - | - |
GRCh38 GRCh37 |
3 | 31 | |
CNR1 | - | - |
GRCh38 GRCh37 |
17 | 35 | |
GABRR1 | - | - |
GRCh38 GRCh37 |
- | 40 | |
GABRR2 | - | - |
GRCh38 GRCh37 |
35 | 59 |
There are 149 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) |
|
Jan 30, 2010 | RCV000136757.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023