ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_6328780)_(7606804_?)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 |
141 | 303 | |
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3307 | 3402 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1708 | 1913 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
AIPL1 | - | - |
GRCh38 GRCh37 |
558 | 582 | |
ALOX12 | - | - |
GRCh38 GRCh37 |
- | 91 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
ASGR2 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
BCL6B | - | - |
GRCh38 GRCh37 |
10 | 33 |
There are 54 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) |
|
May 7, 2022 | RCV003109217.1 | |
Uncertain significance (1) |
|
May 7, 2022 | RCV003119078.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023