ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3
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 | |||
DGCR6 | - | - |
GRCh38 GRCh37 |
18 | 338 | |
FAM230A | - | - | - |
GRCh38 GRCh37 |
- | 325 |
FAM230D | - | - | - | GRCh38 | - | 61 |
FAM230E | - | - | - | GRCh38 | - | 155 |
FAM230F | - | - | - | GRCh38 | - | 161 |
FAM230J | - | - | - | GRCh38 | - | 150 |
FAM246B | - | - | - | GRCh38 | - | 156 |
FAM247B | - | - | - | GRCh38 | - | 156 |
GGTLC3 | - | - |
GRCh38 GRCh37 |
- | 326 | |
HSERVPRODH | - | - | - | GRCh38 | - | 191 |
There are 21 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053105.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023