ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.3(chr2:24807000-25700000)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 | |||
DNMT3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
762 | 818 | |
ADCY3 | - | - |
GRCh38 GRCh37 |
404 | 496 | |
CENPO | - | - |
GRCh38 GRCh37 |
17 | 109 | |
DNAJC27 | - | - |
GRCh38 GRCh37 |
17 | 47 | |
DTNB | - | - |
GRCh38 GRCh37 |
40 | 69 | |
EFR3B | - | - |
GRCh38 GRCh37 |
39 | 74 | |
NCOA1 | - | - |
GRCh38 GRCh37 |
352 | 382 | |
POMC | - | - |
GRCh38 GRCh37 |
170 | 227 | |
PTRHD1 | - | - |
GRCh38 GRCh37 |
6 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 1, 2018 | RCV000677197.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022