ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)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 | |||
CHL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 328 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
266 | 498 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
227 | 374 | |
CHL1-AS1 | - | - | - | GRCh38 | - | 78 |
CHL1-AS2 | - | - | - | GRCh38 | - | 50 |
CNTN4-AS1 | - | - | - | GRCh38 | - | 93 |
CNTN4-AS2 | - | - | - | GRCh38 | - | 59 |
CRBN | - | - |
GRCh38 GRCh37 |
61 | 177 | |
IL5RA | - | - |
GRCh38 GRCh37 |
30 | 128 | |
LINC01266 | - | - | - | GRCh38 | 1 | 60 |
There are 28 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 18, 2012 | RCV000139436.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024