ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1
Germline
Classification
(1)
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 | |||
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 116 | |
ACADL | - | - |
GRCh38 GRCh37 |
49 | 76 | |
ADAM23 | - | - |
GRCh38 GRCh37 |
48 | 79 | |
C2orf80 | - | - |
GRCh38 GRCh37 |
5 | 39 | |
CCNYL1 | - | - | - |
GRCh38 GRCh37 |
13 | 40 |
CD28 | - | - |
GRCh38 GRCh37 |
9 | 44 | |
CMKLR2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 48 | |
CPO | - | - |
GRCh38 GRCh37 |
27 | 54 | |
CPS1 | - | - |
GRCh38 GRCh37 |
1923 | 1953 | |
CREB1 | - | - |
GRCh38 GRCh37 |
15 | 42 |
There are 28 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 10, 2020 | RCV001258576.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023