ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)
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 | |||
CUL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
425 | 466 | |
PAX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
286 | 374 | |
ACSL3 | - | - |
GRCh38 GRCh37 |
19 | 53 | |
AP1S3 | - | - |
GRCh38 GRCh37 |
22 | 55 | |
CCDC140 | - | - | - |
GRCh38 GRCh37 |
- | 54 |
DOCK10 | - | - |
GRCh38 GRCh37 |
81 | 110 | |
FAM124B | - | - |
GRCh38 GRCh37 |
20 | 48 | |
FARSB | - | - |
GRCh38 GRCh37 |
149 | 180 | |
KCNE4 | - | - |
GRCh38 GRCh37 |
7 | 37 | |
MOGAT1 | - | - |
GRCh38 GRCh37 |
17 | 49 |
There are 5 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) |
|
- | RCV002280673.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022