ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_6589506)_(8151374_?)dup
Germline
Classification
(2)
Uncertain significance
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 | |
ALOX12 | - | - |
GRCh38 GRCh37 |
- | 91 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
300 | 355 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 90 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 289 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 40 |
There are 73 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) |
|
Nov 16, 2019 | RCV001031775.1 | |
Uncertain significance (1) |
|
Jun 3, 2022 | RCV001338841.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024