ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3
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 | |||
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 117 | |
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 46 | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 83 |
AMER3 | - | - | - |
GRCh38 GRCh37 |
58 | 116 |
C2orf27A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 25 |
CCDC115 | - | - |
GRCh38 GRCh37 |
39 | 88 | |
CCDC74A | - | - | - |
GRCh38 GRCh37 |
28 | 63 |
CDRT15P3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 22 |
CFC1B | - | - | - |
GRCh38 GRCh37 |
- | 21 |
FAM168B | - | - |
GRCh38 GRCh37 |
6 | 62 |
There are 15 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 5, 2018 | RCV000846479.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023