ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_24443763)_(29022169_?)dup
Germline
Classification
(2)
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 | |||
DNMT3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
752 | 808 | |
ASXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
470 | 499 | |
ABHD1 | - | - |
GRCh38 GRCh37 |
35 | 56 | |
ADCY3 | - | - |
GRCh38 GRCh37 |
404 | 496 | |
ADGRF3 | - | - |
GRCh38 GRCh37 |
79 | 102 | |
AGBL5 | - | - |
GRCh38 GRCh37 |
664 | 684 | |
ATRAID | - | - |
GRCh38 GRCh37 |
16 | 47 | |
BABAM2 | - | - |
GRCh38 GRCh37 |
23 | 47 | |
CAD | - | - |
GRCh38 GRCh37 |
1741 | 2061 | |
CCDC121 | - | - | - |
GRCh38 GRCh37 |
21 | 47 |
There are 57 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003113871.6 | |
Uncertain significance (1) |
|
Aug 22, 2022 | RCV003113870.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024