ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q33.1(chr2:201838259-202711243)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 | |||
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 545 | |
ALS2 | - | - |
GRCh38 GRCh37 |
996 | 1040 | |
C2CD6 | - | - |
GRCh38 GRCh37 |
85 | 123 | |
CASP8 | - | - |
GRCh38 GRCh37 |
317 | 359 | |
CDK15 | - | - |
GRCh38 GRCh37 |
19 | 54 | |
CFLAR | - | - |
GRCh38 GRCh37 |
10 | 49 | |
FLACC1 | - | - |
GRCh38 GRCh37 |
32 | 65 | |
HYCC2 | - | - | - |
GRCh38 GRCh37 |
3 | 59 |
MPP4 | - | - |
GRCh38 GRCh37 |
45 | 84 | |
NDUFB3 | - | - |
GRCh38 GRCh37 |
42 | 77 |
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV002282736.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023