ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
DBN1 | - | - |
GRCh38 GRCh37 |
49 | 113 | |
DOK3 | - | - |
GRCh38 GRCh37 |
46 | 120 | |
EIF4E1B | - | - | - |
GRCh38 GRCh37 |
16 | 71 |
F12 | - | - |
GRCh38 GRCh37 |
144 | 226 | |
FAM193B | - | - |
GRCh38 GRCh37 |
50 | 115 | |
FGFR4 | - | - |
GRCh38 GRCh37 |
61 | 122 | |
GRK6 | - | - |
GRCh38 GRCh37 |
11 | 84 | |
HK3 | - | - |
GRCh38 GRCh37 |
95 | 151 |
There are 15 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) |
|
Dec 6, 2017 | RCV000682618.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023