ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 117 | |
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | - | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | - |
AMER3 | - | - | - |
GRCh38 GRCh37 |
58 | 116 |
CCDC115 | - | - |
GRCh38 GRCh37 |
39 | 88 | |
CCDC74B | - | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 55 |
CFC1B | - | - | - |
GRCh38 GRCh37 |
- | 21 |
IMP4 | - | - |
GRCh38 GRCh37 |
16 | 59 | |
MZT2B | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 88 | |
POTEF | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 38 |
There are 5 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 2, 2017 | RCV000682106.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023