ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)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 | |||
AFG1L | - | - |
GRCh38 GRCh37 |
29 | 54 | |
AK9 | - | - |
GRCh38 GRCh37 |
83 | 139 | |
AMD1 | - | - |
GRCh38 GRCh37 |
7 | 41 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
57 | 98 | |
ARMC2-AS1 | - | - | - | GRCh38 | - | 10 |
C6orf183 | - | - | - | GRCh38 | - | 9 |
CCN6 | - | - |
GRCh38 GRCh37 |
221 | 246 | |
CD164 | - | - |
GRCh38 GRCh37 |
90 | 123 | |
CDC40 | - | - |
GRCh38 GRCh37 |
16 | 43 | |
CDK19 | - | - |
GRCh38 GRCh37 |
39 | 73 |
There are 216 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
|
Pathogenic (1) |
|
Jan 13, 2012 | RCV000138006.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024