ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4
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 |
840 | 874 | |
A4GALT | - | - |
GRCh38 GRCh37 |
86 | 130 | |
ARFGAP3 | - | - |
GRCh38 GRCh37 |
32 | 78 | |
ARHGAP8 | - | - |
GRCh38 GRCh37 |
- | 161 | |
ATP5MGL | - | - | - |
GRCh38 GRCh37 |
- | 48 |
ATXN10 | - | - |
GRCh38 GRCh37 |
36 | 123 | |
BIK | - | - |
GRCh38 GRCh37 |
15 | 64 | |
CDPF1 | - | - | - |
GRCh38 GRCh37 |
8 | 93 |
CELSR1 | - | - |
GRCh38 GRCh37 |
452 | 589 | |
CERK | - | - |
GRCh38 GRCh37 |
46 | 151 |
There are 295 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 6, 2011 | RCV000135528.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023