ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 247 | |
ARFGEF1 | - | - |
GRCh38 GRCh37 |
144 | 402 | |
C8orf44-SGK3 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
COPS5 | - | - |
GRCh38 GRCh37 |
5 | 41 | |
CSPP1 | - | - |
GRCh38 GRCh37 |
916 | 1178 | |
MCMDC2 | - | - |
GRCh38 GRCh37 |
35 | 68 | |
PPP1R42 | - | - |
GRCh38 GRCh37 |
4 | 39 | |
SGK3 | - | - |
GRCh38 GRCh37 |
- | 47 | |
SNHG6 | - | - |
GRCh38 GRCh37 |
- | 32 | |
SNORD87 | - | - |
GRCh38 GRCh37 |
- | 32 |
There is 1 more gene 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 6, 2019 | RCV001258413.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022