ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1(chr2:130685932-131478005)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 | |||
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
26 | 47 | |
CCDC115 | - | - |
GRCh38 GRCh37 |
43 | 92 | |
CCDC74B | - | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 69 |
CFC1B | - | - | - |
GRCh38 GRCh37 |
- | 21 |
IMP4 | - | - |
GRCh38 GRCh37 |
23 | 66 | |
MZT2B | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 96 | |
POTEF | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 38 |
POTEI | - | - | - |
GRCh38 GRCh37 |
2 | 25 |
POTEJ | - | - | - |
GRCh38 GRCh37 |
2 | 23 |
PTPN18 | - | - |
GRCh38 GRCh37 |
43 | 89 |
There are 3 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 22, 2014 | RCV000511540.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024