ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1
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 | |||
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 70 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 57 |
CNOT6 | - | - |
GRCh38 GRCh37 |
10 | 46 | |
FLT4 | - | - |
GRCh38 GRCh37 |
328 | 401 | |
GFPT2 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
HEIH | - | - | GRCh38 | - | 12 | |
LINC00847 | - | - | - | GRCh38 | - | 12 |
LINC02222 | - | - | - | GRCh38 | - | 12 |
LOC105377763 | - | - | - |
GRCh38 GRCh38 |
- | 10 |
LOC111556140 | - | - | - | GRCh38 | - | 10 |
There are 77 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) |
|
Nov 30, 2010 | RCV000135285.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023