ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)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 | |||
ARID4B | - | - |
GRCh38 GRCh37 |
64 | - | |
B3GALNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | - | |
COA6 | - | - |
GRCh38 GRCh37 |
- | - | |
ERO1B | - | - |
GRCh38 GRCh37 |
35 | 100 | |
GGPS1 | - | - |
GRCh38 GRCh37 |
17 | 72 | |
GNG4 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | - | |
GPR137B | - | - |
GRCh38 GRCh37 |
22 | - | |
IRF2BP2 | - | - |
GRCh38 GRCh37 |
363 | - | |
LNCATV | - | - | - |
GRCh38 GRCh37 |
1 | 53 |
LYST | - | - |
GRCh38 GRCh37 |
3386 | 3524 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 15, 2017 | RCV004577446.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024