ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)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 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1674 | 1787 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
11 | 85 |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 414 | |
CDHR2 | - | - |
GRCh38 GRCh37 |
91 | 147 | |
CLTB | - | - |
GRCh38 GRCh37 |
- | 55 | |
DBN1 | - | - |
GRCh38 GRCh37 |
49 | 112 | |
DOK3 | - | - |
GRCh38 GRCh37 |
46 | 118 | |
EIF4E1B | - | - | - |
GRCh38 GRCh37 |
16 | 70 |
F12 | - | - |
GRCh38 GRCh37 |
144 | 225 |
There are 133 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 18, 2013 | RCV000143463.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024