ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3
Germline
Classification
(1)
Likely 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 | |||
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1740 | 1795 | |
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 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 57 |
CLK4 | - | - |
GRCh38 GRCh37 |
16 | 55 | |
CNOT6 | - | - |
GRCh38 GRCh37 |
10 | 46 | |
COL23A1 | - | - |
GRCh38 GRCh37 |
22 | 65 |
There are 199 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 18, 2014 | RCV000142298.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023