ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3
Germline
Classification
(1)
Pathogenic
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 | |||
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
886 | 923 | |
ACO2 | - | - |
GRCh38 GRCh37 |
504 | 778 | |
CCDC134 | - | - |
GRCh38 GRCh37 |
24 | 54 | |
CENPM | - | - |
GRCh38 GRCh37 |
6 | 38 | |
CSDC2 | - | - |
GRCh38 GRCh37 |
11 | 37 | |
CYP2D6 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
245 | 336 | |
CYP2D7 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 |
1 | 9 |
DESI1 | - | - |
GRCh38 GRCh37 |
5 | 31 | |
LINC01315 | - | - | - | GRCh38 | - | 10 |
LOC105373044 | - | - | - | GRCh38 | - | 6 |
There are 101 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) |
|
Jan 30, 2010 | RCV000136785.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024