ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:18178932-18860507)x3
Germline
Classification
(1)
Likely benign
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 | |||
FAM230A | - | - | - |
GRCh38 GRCh37 |
- | 332 |
FAM230D | - | - | - | GRCh38 | - | 61 |
FAM230E | - | - | - | GRCh38 | - | 155 |
FAM230J | - | - | - | GRCh38 | - | 150 |
FAM246B | - | - | - | GRCh38 | - | 156 |
FAM247B | - | - | - | GRCh38 | - | 156 |
GGTLC3 | - | - |
GRCh38 GRCh37 |
- | 333 | |
LOC129391262 | - | - | - | GRCh38 | - | 161 |
LOC130066948 | - | - | - | GRCh38 | - | 160 |
RIMBP3 | - | - |
GRCh38 GRCh37 |
79 | 418 |
There is 1 more gene 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
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138456.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024