ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:144879444-145199846)
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 | |||
CYC1 | - | - |
GRCh38 GRCh37 |
118 | 187 | |
EPPK1 | - | - |
GRCh38 GRCh37 |
382 | 444 | |
EXOSC4 | - | - |
GRCh38 GRCh37 |
13 | 81 | |
GPAA1 | - | - |
GRCh38 GRCh37 |
506 | 601 | |
GRINA | - | - |
GRCh38 GRCh37 |
- | 78 | |
HGH1 | - | - | - |
GRCh38 GRCh37 |
3 | 72 |
MAF1 | - | - |
GRCh38 GRCh37 |
10 | 79 | |
MIR661 | - | - |
GRCh38 GRCh37 |
- | 65 | |
NRBP2 | - | - |
GRCh38 GRCh37 |
26 | 89 | |
OPLAH | - | - |
GRCh38 GRCh37 |
412 | 481 |
There are 6 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) |
|
Nov 1, 2018 | RCV000767560.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022