ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)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 |
436 | 473 | |
AKIRIN2 | - | - |
GRCh38 GRCh37 |
2 | 23 | |
ANKRD6 | - | - |
GRCh38 GRCh37 |
55 | 85 | |
BACH2 | - | - |
GRCh38 GRCh38 GRCh37 |
420 | 450 | |
C6orf163 | - | - | - |
GRCh38 GRCh37 |
3 | 23 |
CASC6 | - | - | - | GRCh38 | 2 | 12 |
CASP8AP2 | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 90 | |
CEP162 | - | - |
GRCh38 GRCh37 |
41 | 75 | |
CFAP206 | - | - | - |
GRCh38 GRCh37 |
22 | 44 |
CGA | - | - |
GRCh38 GRCh37 |
3 | 31 |
There are 239 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) |
|
Dec 22, 2010 | RCV000135773.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023