ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1
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 | |||
EIF2B4 | - | - |
GRCh38 GRCh37 |
217 | 452 | |
GTF3C2 | - | - |
GRCh38 GRCh37 |
27 | 49 | |
MPV17 | - | - |
GRCh38 GRCh37 |
320 | 350 | |
PPM1G | - | - |
GRCh38 GRCh37 |
14 | 32 | |
SNX17 | - | - |
GRCh38 GRCh37 |
29 | 60 | |
TRIM54 | - | - |
GRCh38 GRCh37 |
37 | 56 | |
UCN | - | - |
GRCh38 GRCh37 |
11 | 30 | |
ZNF513 | - | - |
GRCh38 GRCh37 |
363 | 431 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 16, 2019 | RCV001005237.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022