ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)
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 | |||
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 246 | |
ADHFE1 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
ARFGEF1 | - | - |
GRCh38 GRCh37 |
143 | 401 | |
ARMC1 | - | - | - |
GRCh38 GRCh37 |
11 | 38 |
BHLHE22 | - | - |
GRCh38 GRCh37 |
2 | 63 | |
C8orf44 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
C8orf44-SGK3 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
COPS5 | - | - |
GRCh38 GRCh37 |
5 | 41 | |
CRH | - | - |
GRCh38 GRCh37 |
22 | 54 | |
CSPP1 | - | - |
GRCh38 GRCh37 |
916 | 1178 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053768.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022