ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_2034220)_(2152787_?)del
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 |
3263 | 3778 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10625 | 10800 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 205 | |
MIR1225 | - | - |
GRCh38 GRCh37 |
- | 92 | |
NHERF2 | - | - |
GRCh38 GRCh37 |
47 | 99 | |
NPW | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 65 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1493 | 1599 | |
SYNGR3 | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 76 | |
ZNF598 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 87 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 5, 2022 | RCV003105244.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023