ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.1-11.21(chr22:16888899-17937630)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
GAB4 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 125 |
ADA2 | - | - |
GRCh38 GRCh37 |
503 | 582 | |
CCT8L2 | - | - | - |
GRCh38 GRCh37 |
43 | 106 |
CECR3 | - | - | - |
GRCh38 GRCh37 |
1 | 76 |
HDHD5 | - | - | - |
GRCh38 GRCh37 |
34 | 125 |
IL17RA | - | - |
GRCh38 GRCh37 |
827 | 985 | |
TMEM121B | - | - | - |
GRCh38 GRCh37 |
43 | 126 |
XKR3 | - | - |
GRCh38 GRCh37 |
25 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986174.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024