ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:176918345-179061393)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 |
530 | 596 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1751 | 1806 | |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 414 | |
CLK4 | - | - |
GRCh38 GRCh37 |
20 | 59 | |
COL23A1 | - | - |
GRCh38 GRCh37 |
33 | 76 | |
DOK3 | - | - |
GRCh38 GRCh37 |
46 | 118 | |
FAM153A | - | - | - |
GRCh38 GRCh37 |
18 | 72 |
FAM193B | - | - |
GRCh38 GRCh37 |
50 | 114 | |
GRM6 | - | - |
GRCh38 GRCh37 |
300 | 863 | |
HNRNPAB | - | - |
GRCh38 GRCh37 |
5 | 53 |
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) |
|
May 24, 2018 | RCV000682619.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022