ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1
Germline
Classification
(1)
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 | |||
C1QTNF6 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
CACNG2 | - | - |
GRCh38 GRCh37 |
34 | 62 | |
CACNG2-DT | - | - | - | GRCh38 | - | 102 |
CARD10 | - | - |
GRCh38 GRCh37 |
94 | 117 | |
CDC42EP1 | - | - |
GRCh38 GRCh37 |
43 | 66 | |
CIMIP4 | - | - | - |
GRCh38 GRCh37 |
26 | 46 |
CSF2RB | - | - |
GRCh38 GRCh37 |
618 | 680 | |
CYTH4 | - | - |
GRCh38 GRCh37 |
19 | 46 | |
ELFN2 | - | - |
GRCh38 GRCh37 |
41 | 62 | |
GGA1 | - | - |
GRCh38 GRCh37 |
44 | 67 |
There are 85 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051365.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024