ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 |
- | 116 | |
C2orf80 | - | - |
GRCh38 GRCh37 |
5 | 39 | |
CRYGA | - | - |
GRCh38 GRCh37 |
25 | 58 | |
CRYGB | - | - |
GRCh38 GRCh37 |
- | 76 | |
CRYGD | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 119 | |
IDH1 | - | - |
GRCh38 GRCh37 |
412 | 446 | |
PIKFYVE | - | - |
GRCh38 GRCh37 |
306 | 345 | |
PTH2R | - | - |
GRCh38 GRCh37 |
58 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 6, 2023 | RCV001005372.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024