ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q36.1-36.3(chr2:225053410-227018472)x1
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 |
427 | 469 | |
DOCK10 | - | - |
GRCh38 GRCh37 |
112 | 142 | |
FAM124B | - | - |
GRCh38 GRCh37 |
24 | 53 | |
NYAP2 | - | - |
GRCh38 GRCh37 |
39 | 65 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 22, 2017 | RCV000845760.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022