ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p12(chr8:30335124-33770070)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 | |||
DUSP26 | - | - |
GRCh38 GRCh37 |
7 | 74 | |
FUT10 | - | - |
GRCh38 GRCh37 |
29 | 97 | |
GSR | - | - |
GRCh38 GRCh37 |
130 | 234 | |
GTF2E2 | - | - |
GRCh38 GRCh37 |
137 | 217 | |
MAK16 | - | - | - |
GRCh38 GRCh37 |
13 | 94 |
NRG1 | - | - |
GRCh38 GRCh37 |
51 | 131 | |
PPP2CB | - | - |
GRCh38 GRCh37 |
13 | 86 | |
PURG | - | - |
GRCh38 GRCh37 |
18 | 91 | |
RBPMS | - | - |
GRCh38 GRCh37 |
12 | 86 | |
RNF122 | - | - | - |
GRCh38 GRCh37 |
7 | 75 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 14, 2018 | RCV000683024.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022