ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_176289625)_(177151363_?)del
Germline
Classification
(2)
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 | |||
DDX41 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
553 | 621 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1681 | 1795 | |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 415 | |
DBN1 | - | - |
GRCh38 GRCh37 |
49 | 113 | |
DOK3 | - | - |
GRCh38 GRCh37 |
46 | 120 | |
F12 | - | - |
GRCh38 GRCh37 |
144 | 226 | |
FAM153A | - | - | - |
GRCh38 GRCh37 |
18 | 73 |
FAM193B | - | - |
GRCh38 GRCh37 |
50 | 115 | |
FGFR4 | - | - |
GRCh38 GRCh37 |
61 | 122 | |
GRK6 | - | - |
GRCh38 GRCh37 |
11 | 84 |
There are 14 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003113198.12 | |
Pathogenic (1) |
|
Oct 21, 2022 | RCV003232856.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024