ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300)
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 | |||
GAB4 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 125 |
ATP6V1E1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 216 | |
ADA2 | - | - |
GRCh38 GRCh37 |
503 | 582 | |
BCL2L13 | - | - |
GRCh38 GRCh37 |
36 | 107 | |
BID | - | - |
GRCh38 GRCh37 |
20 | 88 | |
CCT8L2 | - | - | - |
GRCh38 GRCh37 |
43 | 106 |
CECR2 | - | - |
GRCh38 GRCh37 |
17 | 87 | |
CECR3 | - | - | - |
GRCh38 GRCh37 |
1 | 76 |
HDHD5 | - | - | - |
GRCh38 GRCh37 |
34 | 125 |
IL17RA | - | - |
GRCh38 GRCh37 |
827 | 985 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 9, 2015 | RCV000511748.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024