ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)
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 | |||
CUL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
436 | 478 | |
TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
401 | 455 | |
ACSL3 | - | - |
GRCh38 GRCh37 |
21 | 57 | |
AGFG1 | - | - |
GRCh38 GRCh37 |
27 | 54 | |
AP1S3 | - | - |
GRCh38 GRCh37 |
23 | 57 | |
C2orf72 | - | - | - |
GRCh38 GRCh37 |
3 | 32 |
C2orf83 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
CAB39 | - | - |
GRCh38 GRCh37 |
4 | 34 | |
CCL20 | - | - |
GRCh38 GRCh37 |
4 | 28 | |
COL4A3 | - | - |
GRCh38 GRCh37 |
30 | 2687 |
There are 32 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) |
|
Mar 1, 2022 | RCV002053287.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022