ClinVar Genomic variation as it relates to human health
NC_000013.11:g.46968080_87381985del40413906
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 | |||
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3237 | 3385 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
84 | 362 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
44 | 128 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
ALG11 | - | - |
GRCh38 GRCh37 |
72 | 258 | |
ARL11 | - | - |
GRCh38 GRCh37 |
10 | 78 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2850 | 2991 | |
ATXN8OS | - | - |
GRCh38 GRCh37 |
10 | 103 | |
BORA | - | - |
GRCh38 GRCh37 |
18 | 91 | |
C13orf42 | - | - | - | GRCh38 | - | 30 |
There are 522 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000721955.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023