ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)
Germline
Classification
(1)
Likely 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 | |||
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
45 | 147 |
GGTLC2 | - | - |
GRCh38 GRCh37 |
- | 125 | |
HIC2 | - | - |
GRCh38 GRCh37 |
49 | 186 | |
IGLC1 | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGLL5 | - | - | - |
GRCh38 GRCh37 |
- | 143 |
MAPK1 | - | - |
GRCh38 GRCh37 |
42 | 149 | |
MIR130B | - | - |
GRCh38 GRCh37 |
- | 101 | |
PPIL2 | - | - |
GRCh38 GRCh37 |
31 | 136 | |
PPM1F | - | - |
GRCh38 GRCh37 |
56 | 169 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2018 | RCV000767631.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023