ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)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 | |||
ITPR1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1677 | 1876 | |
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 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 90 | |
BHLHE40 | - | - |
GRCh38 GRCh37 |
17 | 104 | |
BHLHE40-AS1 | - | - | - | GRCh38 | - | 41 |
CHL1-AS1 | - | - | - | GRCh38 | - | 78 |
CHL1-AS2 | - | - | - | GRCh38 | - | 50 |
CNTN4-AS1 | - | - | - | GRCh38 | - | 93 |
There are 118 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000134257.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024