ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)
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 | |||
APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | - | |
PRDM6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 87 | |
ALDH7A1 | - | - |
GRCh38 GRCh37 |
- | - | |
AP3S1 | - | - |
GRCh38 GRCh37 |
- | 30 | |
ARL14EPL | - | - | - |
GRCh38 GRCh37 |
- | - |
ATG12 | - | - |
GRCh38 GRCh37 |
- | - | |
CAMK4 | - | - |
GRCh38 GRCh37 |
28 | 67 | |
CCDC112 | - | - | - |
GRCh38 GRCh37 |
28 | 55 |
CDO1 | - | - |
GRCh38 GRCh37 |
8 | 35 | |
CEP120 | - | - |
GRCh38 GRCh37 |
474 | 501 |
There are 52 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 | RCV002053515.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022