ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.1(chr17:7478195-8435524)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 | |||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3328 | 3426 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
436 | 543 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
301 | 357 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 91 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 290 | |
ARHGEF15 | - | - |
GRCh38 GRCh37 |
584 | 612 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
13 | 42 | |
AURKB | - | - |
GRCh38 GRCh37 |
18 | 47 | |
BORCS6 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
CD68 | - | - |
GRCh38 GRCh37 |
26 | 57 |
There are 183 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053426.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023