ClinVar Genomic variation as it relates to human health
NC_000016.10:g.1903155_2093402del
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 |
3475 | 4027 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10719 | 10914 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 208 | |
HS3ST6 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 95 | |
LOC116268480 | - | - | - | GRCh38 | - | 11 |
LOC121530610 | - | - | - |
GRCh38 GRCh38 |
- | 13 |
LOC125146375 | - | - | - |
GRCh38 GRCh38 |
- | 12 |
LOC125146377 | - | - | - |
GRCh38 GRCh38 |
- | 17 |
LOC130058195 | - | - | - |
GRCh38 GRCh38 |
- | 13 |
LOC130058196 | - | - | - |
GRCh38 GRCh38 |
- | 13 |
There are 32 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 | RCV002267197.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023