ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)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 | |||
ZNF292 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
429 | 469 | |
AKIRIN2 | - | - |
GRCh38 GRCh37 |
2 | 26 | |
ANKRD6 | - | - |
GRCh38 GRCh37 |
55 | 89 | |
BACH2 | - | - |
GRCh38 GRCh38 GRCh37 |
421 | 455 | |
C6orf163 | - | - | - |
GRCh38 GRCh37 |
3 | 25 |
CASC6 | - | - | - | GRCh38 | 2 | 12 |
CASP8AP2 | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 93 | |
CFAP206 | - | - | - |
GRCh38 GRCh37 |
22 | 46 |
CGA | - | - |
GRCh38 GRCh37 |
3 | 34 | |
CNR1 | - | - |
GRCh38 GRCh37 |
18 | 39 |
There are 145 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135450.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023