ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1
Germline
Classification
(1)
Likely 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 | |||
ADCY8 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
ASAP1 | - | - |
GRCh38 GRCh37 |
31 | 97 | |
ASAP1-IT1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
CYRIB | - | - |
GRCh38 GRCh37 |
3 | 66 | |
EFR3A | - | - |
GRCh38 GRCh37 |
73 | 140 | |
GSDMC | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 75 | |
HHLA1 | - | - |
GRCh38 GRCh37 |
36 | 102 | |
KCNQ3 | - | - |
GRCh38 GRCh37 |
1301 | 1371 | |
MYC | - | - |
GRCh38 GRCh37 |
31 | 84 | |
OC90 | - | - |
GRCh38 GRCh37 |
26 | 100 |
There are 2 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV000448960.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024