ClinVar Genomic variation as it relates to human health
NC_000017.11:g.(?_7669603)_(8382316_?)del
Germline
Classification
(3)
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 |
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 | |
ARHGEF15 | - | - |
GRCh38 GRCh37 |
582 | 609 | |
AURKB | - | - |
GRCh38 GRCh37 |
18 | 46 | |
BORCS6 | - | - |
GRCh38 GRCh37 |
21 | 50 | |
CHD3 | - | - |
GRCh38 GRCh37 |
385 | 464 | |
CNTROB | - | - |
GRCh38 GRCh37 |
71 | 99 |
There are 133 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 11, 2017 | RCV000538057.3 | |
Pathogenic (1) |
|
Aug 20, 2021 | RCV001382188.4 | |
Pathogenic (1) |
|
May 2, 2017 | RCV003105948.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024