ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)
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 | |||
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
61 | 88 | |
DDX24 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 89 | |
IFI27 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 36 | |
IFI27L1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 40 | |
IFI27L2 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 35 | |
OTUB2 | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 49 | |
PPP4R4 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 66 | |
SERPINA1 | - | - |
GRCh38 GRCh38 GRCh37 |
483 | 518 | |
SERPINA10 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 59 | |
SERPINA11 | - | - |
GRCh38 GRCh37 |
42 | 70 |
There are 7 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) |
|
Mar 1, 2022 | RCV002052454.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023