ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
1692 | 1894 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
273 | 507 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 91 | |
BHLHE40 | - | - |
GRCh38 GRCh37 |
21 | 110 | |
BHLHE40-AS1 | - | - | - | GRCh38 | - | 42 |
CNTN4-AS1 | - | - | - | GRCh38 | - | 94 |
CNTN4-AS2 | - | - | - | GRCh38 | - | 59 |
CRBN | - | - |
GRCh38 GRCh37 |
62 | 180 | |
EDEM1 | - | - |
GRCh38 GRCh37 |
35 | 133 | |
EGOT | - | - |
GRCh38 GRCh37 |
- | 93 |
There are 112 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 12, 2011 | RCV000050822.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024