ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p24.2(chr2:17814030-18851257)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
613 | 641 | |
KCNS3 | - | - |
GRCh38 GRCh37 |
37 | 61 | |
MSGN1 | - | - |
GRCh38 GRCh37 |
17 | 41 | |
NT5C1B | - | - |
GRCh38 GRCh37 |
- | 80 | |
NT5C1B-RDH14 | - | - | - |
GRCh38 GRCh37 |
- | 113 |
RDH14 | - | - |
GRCh38 GRCh37 |
- | 55 | |
SMC6 | - | - |
GRCh38 GRCh37 |
37 | 65 | |
VSNL1 | - | - |
GRCh38 GRCh37 |
4 | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 23, 2017 | RCV000515579.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022