ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_7120455)_(8151423_?)del
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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
143 | 305 | |
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 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1708 | 1913 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
300 | 355 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 90 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 289 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
AURKB | - | - |
GRCh38 GRCh37 |
18 | 46 |
There are 58 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 10, 2021 | RCV003111420.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023