ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
160 | 189 | |
ACAT2 | - | - |
GRCh38 GRCh37 |
28 | 61 | |
MAS1 | - | - |
GRCh38 GRCh37 |
34 | 58 | |
MRPL18 | - | - |
GRCh38 GRCh37 |
10 | 34 | |
PNLDC1 | - | - |
GRCh38 GRCh37 |
41 | 65 | |
SOD2 | - | - |
GRCh38 GRCh37 |
20 | 57 | |
TCP1 | - | - |
GRCh38 GRCh37 |
27 | 58 | |
WTAP | - | - |
GRCh38 GRCh37 |
- | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 13, 2020 | RCV001258756.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022