ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
423 | 525 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
299 | 354 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 90 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 289 | |
ARHGEF15 | - | - |
GRCh38 GRCh37 |
582 | 609 | |
AURKB | - | - |
GRCh38 GRCh37 |
18 | 46 | |
BORCS6 | - | - |
GRCh38 GRCh37 |
21 | 50 | |
CHD3 | - | - |
GRCh38 GRCh37 |
381 | 460 | |
CNTROB | - | - |
GRCh38 GRCh37 |
71 | 99 | |
CTC1 | - | - |
GRCh38 GRCh37 |
1356 | 1471 |
There are 24 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) |
|
Sep 28, 2018 | RCV000848522.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022