ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1
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 |
530 | 596 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1677 | 1790 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1751 | 1806 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
11 | 85 |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 414 | |
BTNL3 | - | - |
GRCh38 GRCh37 |
33 | 67 | |
BTNL8 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
BTNL9 | - | - | - |
GRCh38 GRCh37 |
57 | 92 |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 83 |
There are 84 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) |
|
Jan 17, 2014 | RCV000167565.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023