ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.2(chr3:185135104-185741504)
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 | |||
IGF2BP2 | - | - |
GRCh38 GRCh37 |
16 | 68 | |
LIPH | - | - |
GRCh38 GRCh37 |
79 | 126 | |
MAP3K13 | - | - |
GRCh38 GRCh37 |
32 | 109 | |
SENP2 | - | - |
GRCh38 GRCh37 |
23 | 69 | |
TMEM41A | - | - | - |
GRCh38 GRCh37 |
11 | 57 |
TRA2B | - | - |
GRCh38 GRCh37 |
7 | 48 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053396.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022