ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)
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 | |
BTNL3 | - | - |
GRCh38 GRCh37 |
25 | 59 | |
BTNL8 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
BTNL9 | - | - | - |
GRCh38 GRCh37 |
38 | 73 |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 70 |
There are 82 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) |
|
Nov 1, 2018 | RCV000767711.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023