ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria 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 | |||
ALG1L2 | - | - | - |
GRCh38 GRCh37 |
13 | 43 |
CFAP92 | - | - | - |
GRCh38 GRCh37 |
21 | 269 |
CNBP | - | - |
GRCh38 GRCh37 |
10 | 29 | |
COPG1 | - | - |
GRCh38 GRCh37 |
65 | 79 | |
EFCAB12 | - | - | - |
GRCh38 GRCh37 |
27 | 40 |
EFCC1 | - | - | - |
GRCh38 GRCh37 |
22 | 61 |
GP9 | - | - |
GRCh38 GRCh37 |
115 | 130 | |
H1-10 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
H1-8 | - | - | - |
GRCh38 GRCh37 |
39 | 52 |
HMCES | - | - |
GRCh38 GRCh37 |
27 | 40 |
There are 9 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) |
|
Aug 22, 2017 | RCV000682304.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023