ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.22(chr22:22374043-22886630)x1
Germline
Classification
(1)
Benign
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 | |||
GGTLC2 | - | - |
GRCh38 GRCh37 |
- | 126 | |
IGL | - | - | - | GRCh38 | - | 239 |
IGLV1-36 | - | - | - | GRCh38 | - | 35 |
IGLV1-40 | - | - | - | GRCh38 | - | 35 |
IGLV1-44 | - | - | - | GRCh38 | - | 35 |
IGLV2-11 | - | - | - | GRCh38 | - | 44 |
IGLV2-14 | - | - | - | GRCh38 | - | 44 |
IGLV2-18 | - | - | - | GRCh38 | - | 44 |
IGLV2-23 | - | - | - | GRCh38 | - | 42 |
IGLV2-33 | - | - | - | GRCh38 | - | 26 |
There are 29 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 |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Nov 30, 2010 | RCV000135086.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023