ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3
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 | |||
DDX41 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
529 | 595 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1656 | 1768 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1740 | 1795 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
8 | 74 |
B4GALT7 | - | - |
GRCh38 GRCh37 |
314 | 404 | |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 70 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 57 |
CDHR2 | - | - |
GRCh38 GRCh37 |
68 | 123 | |
CLK4 | - | - |
GRCh38 GRCh37 |
16 | 55 |
There are 284 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) |
|
Aug 12, 2011 | RCV000051868.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023