ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
FAM230B | - | - | - | GRCh38 | - | 56 |
FAM230H | - | - | - | GRCh38 | - | 37 |
FAM246A | - | - | - | GRCh38 | - | 34 |
FAM247A | - | - | - | GRCh38 | - | 55 |
GGT2 | - | - |
GRCh38 GRCh37 |
9 | 148 | |
HIC2 | - | - |
GRCh38 GRCh37 |
49 | 186 | |
IGL | - | - | - | GRCh38 | - | 227 |
IGLV1-36 | - | - | - | GRCh38 | - | 35 |
There are 86 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
|
Uncertain significance (1) |
|
Feb 14, 2018 | RCV000142677.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024