ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p24.1-23.3(chr2:23908436-24636185)x3
Germline
Classification
(1)
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 | |||
ATAD2B | - | - |
GRCh38 GRCh37 |
53 | 104 | |
FAM228A | - | - | - |
GRCh38 GRCh37 |
14 | 33 |
FAM228B | - | - | - |
GRCh38 GRCh37 |
12 | 77 |
FKBP1B | - | - |
GRCh38 GRCh37 |
1 | 26 | |
ITSN2 | - | - |
GRCh38 GRCh37 |
275 | 299 | |
KLHL29 | - | - | - |
GRCh38 GRCh37 |
38 | 88 |
MFSD2B | - | - |
GRCh38 GRCh37 |
25 | 61 | |
PFN4 | - | - |
GRCh38 GRCh37 |
- | 25 | |
SF3B6 | - | - |
GRCh38 GRCh37 |
3 | 22 | |
TP53I3 | - | - |
GRCh38 GRCh37 |
- | 58 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 2, 2021 | RCV002474776.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022