ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_6589506)_(7128436_?)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 | |||
ACADVL | - | - |
GRCh38 GRCh37 |
1708 | 1913 | |
ALOX12 | - | - |
GRCh38 GRCh37 |
- | 91 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
ASGR2 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
BCL6B | - | - |
GRCh38 GRCh37 |
10 | 33 | |
C17orf49 | - | - |
GRCh38 GRCh37 |
- | 23 | |
CLEC10A | - | - |
GRCh38 GRCh37 |
15 | 39 | |
DLG4 | - | - |
GRCh38 GRCh37 |
141 | 303 | |
FBXO39 | - | - |
GRCh38 GRCh37 |
35 | 59 | |
MIR195 | - | - |
GRCh38 GRCh37 |
- | 23 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 16, 2020 | RCV001391032.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022