ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q33.1(chr2:200776457-203070949)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 | |||
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
514 | 548 | |
ALS2 | - | - |
GRCh38 GRCh37 |
1000 | 1044 | |
AOX1 | - | - |
GRCh38 GRCh37 |
57 | 93 | |
BZW1 | - | - |
GRCh38 GRCh37 |
18 | 51 | |
C2CD6 | - | - |
GRCh38 GRCh37 |
85 | 123 | |
C2orf69 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
CASP8 | - | - |
GRCh38 GRCh37 |
319 | 361 | |
CDK15 | - | - |
GRCh38 GRCh37 |
19 | 54 | |
CFLAR | - | - |
GRCh38 GRCh37 |
10 | 49 | |
CLK1 | - | - |
GRCh38 GRCh37 |
24 | 61 |
There are 17 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) |
|
Jan 20, 2016 | RCV000240410.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023