ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
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 | |||
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 585 | |
FBXL18 | - | - |
GRCh38 GRCh37 |
41 | 92 | |
RBAK | - | - |
GRCh38 GRCh37 |
- | 84 | |
RBAK-RBAKDN | - | - | - |
GRCh38 GRCh37 |
- | 87 |
SLC29A4 | - | - |
GRCh38 GRCh37 |
76 | 128 | |
TNRC18 | - | - | - |
GRCh38 GRCh37 |
489 | 546 |
WIPI2 | - | - |
GRCh38 GRCh37 |
39 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 22, 2020 | RCV001801207.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024