ClinVar Genomic variation as it relates to human health
NG_012059.2:g.1_302925del
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 | |||
COL4A5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2517 | 2696 | |
ATG4A | - | - |
GRCh38 GRCh37 |
20 | 182 | |
COL4A6 | - | - |
GRCh38 GRCh37 |
508 | 678 | |
LOC126863300 | - | - | - | GRCh38 | - | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 8, 2018 | RCV000735843.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023