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 |
3366 | 3465 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
464 | 576 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
307 | 364 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
62 | 95 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
215 | 294 | |
ARHGEF15 | - | - |
GRCh38 GRCh37 |
589 | 617 | |
AURKB | - | - |
GRCh38 GRCh37 |
20 | 49 | |
BORCS6 | - | - |
GRCh38 GRCh37 |
26 | 56 | |
CHD3 | - | - |
GRCh38 GRCh37 |
420 | 508 | |
CNTROB | - | - |
GRCh38 GRCh37 |
77 | 106 |
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 | RCV000538057.4 | |
Pathogenic (1) |
|
Aug 20, 2021 | RCV001382188.5 | |
Pathogenic (1) |
|
May 2, 2017 | RCV003105948.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024