ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1
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 |
- | - | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 10568 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
- | 64 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
85 | 132 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
90 | 203 | |
MIR1225 | - | - |
GRCh38 GRCh37 |
- | 92 | |
MLST8 | - | - |
GRCh38 GRCh37 |
7 | 56 | |
NOXO1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 84 | |
NPW | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 62 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1464 | 1570 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2021 | RCV002472534.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022