ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1
Germline
Classification
(1)
not provided
no classification 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 | |
FAM228A | - | - | - |
GRCh38 GRCh37 |
14 | 33 |
FAM228B | - | - | - |
GRCh38 GRCh37 |
12 | 77 |
FKBP1B | - | - |
GRCh38 GRCh37 |
1 | 26 | |
ITSN2 | - | - |
GRCh38 GRCh37 |
275 | 299 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000509286.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022