ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)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 |
553 | 620 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1680 | 1794 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1752 | 1807 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
11 | 86 |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 415 | |
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 378 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 5, 2013 | RCV000141987.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024