ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3308 | 3403 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
427 | 530 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
300 | 355 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 90 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 289 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
CD68 | - | - |
GRCh38 GRCh37 |
26 | 56 | |
CHD3 | - | - |
GRCh38 GRCh37 |
385 | 464 | |
CNTROB | - | - |
GRCh38 GRCh37 |
71 | 99 | |
CYB5D1 | - | - | - |
GRCh38 GRCh37 |
- | 46 |
There are 29 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 25, 2021 | RCV002474996.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022