ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del
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 | |||
AKAP9 | - | - |
GRCh38 GRCh37 |
2763 | 2857 | |
ANKIB1 | - | - |
GRCh38 GRCh37 |
51 | 73 | |
CYP51A1 | - | - |
GRCh38 GRCh37 |
74 | 94 | |
CYP51A1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 63 |
KRIT1 | - | - |
GRCh38 GRCh37 |
650 | 680 | |
LRRD1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 6, 2021 | RCV001728075.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 17, 2023