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 |
3475 | 4027 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10719 | 10914 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
25 | 81 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
134 | 184 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 208 | |
MIR1225 | - | - |
GRCh38 GRCh37 |
- | 102 | |
MLST8 | - | - |
GRCh38 GRCh37 |
14 | 70 | |
NOXO1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 105 | |
NPW | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 70 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1520 | 1641 |
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