ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1
Germline
Classification
(2)
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 | |||
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 122 | |
C2orf80 | - | - |
GRCh38 GRCh37 |
5 | 39 | |
CRYGA | - | - |
GRCh38 GRCh37 |
29 | 62 | |
CRYGB | - | - |
GRCh38 GRCh37 |
- | 79 | |
CRYGD | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 120 | |
IDH1 | - | - |
GRCh38 GRCh37 |
435 | 469 | |
IDH1-AS1 | - | - | - | GRCh38 | - | 12 |
LOC100507443 | - | - | - |
GRCh38 GRCh38 |
- | 232 |
LOC122861285 | - | - | - | GRCh38 | - | 11 |
LOC129935514 | - | - | - |
GRCh38 GRCh38 |
- | 11 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (2) |
|
Dec 22, 2010 | RCV000137082.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024