ClinVar Genomic variation as it relates to human health
NC_000016.10:g.2066081_2241220del
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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 3617 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10394 | 10568 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
15 | 64 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
- | - | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
- | - | |
E4F1 | - | - |
GRCh38 GRCh37 |
37 | 82 | |
ECI1 | - | - |
GRCh38 GRCh37 |
- | 65 | |
ECI1-AS1 | - | - | - | GRCh38 | - | 9 |
LOC112340386 | - | - | - | GRCh38 | - | 11 |
LOC112340387 | - | - | - | GRCh38 | - | 11 |
There are 25 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) |
|
Jul 17, 2022 | RCV002267196.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023