ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q11.21(chr20:29425357-30226690)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 | |||
COX4I2 | - | - |
GRCh38 GRCh37 |
59 | 86 | |
DEFB115 | - | - | - |
GRCh38 GRCh37 |
5 | 31 |
DEFB116 | - | - | - |
GRCh38 GRCh37 |
9 | 36 |
DEFB118 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
DEFB119 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
DEFB121 | - | - |
GRCh38 GRCh37 |
3 | 31 | |
DEFB123 | - | - |
GRCh38 GRCh37 |
6 | 34 | |
DEFB124 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
HM13 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
ID1 | - | - |
GRCh38 GRCh37 |
16 | 44 |
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) |
|
May 31, 2017 | RCV000515558.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022