ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2021144-2146432)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 |
3663 | 4235 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10739 | 10936 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 208 | |
MIR1225 | - | - |
GRCh38 GRCh37 |
- | 104 | |
NOXO1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 105 | |
NPW | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 70 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1521 | 1642 | |
SLC9A3R2 | - | - |
GRCh38 GRCh37 |
- | 4 | |
SYNGR3 | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 79 | |
TBL3 | - | - |
GRCh38 GRCh38 GRCh37 |
105 | 210 |
There is 1 more gene 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) |
|
Jan 24, 2022 | RCV002472911.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022