ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3
Germline
Classification
(1)
Likely 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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3989 | 4043 | |
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2026 | 2072 | |
SEC14L4 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 50 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
88 | 117 | |
ASCC2 | - | - |
GRCh38 GRCh37 |
51 | 77 | |
BPIFC | - | - |
GRCh38 GRCh37 |
18 | 38 | |
C22orf31 | - | - | - |
GRCh38 GRCh37 |
4 | 35 |
C22orf42 | - | - | - |
GRCh38 GRCh37 |
2 | 23 |
CABP7 | - | - |
GRCh38 GRCh37 |
12 | 41 | |
CASTOR1 | - | - |
GRCh38 GRCh37 |
17 | 39 |
There are 62 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Sep 9, 2015 | RCV000510523.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024