ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)
Germline
Classification
(1)
Pathogenic
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 | |||
TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
378 | 432 | |
CAB39 | - | - |
GRCh38 GRCh37 |
3 | 33 | |
DNER | - | - |
GRCh38 GRCh37 |
55 | 97 | |
FBXO36 | - | - |
GRCh38 GRCh37 |
10 | 58 | |
GPR55 | - | - |
GRCh38 GRCh37 |
24 | 54 | |
ITM2C | - | - |
GRCh38 GRCh37 |
20 | 50 | |
PID1 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
SLC16A14 | - | - | - |
GRCh38 GRCh37 |
12 | 57 |
SP100 | - | - |
GRCh38 GRCh37 |
48 | 81 | |
SP110 | - | - |
GRCh38 GRCh37 |
229 | 497 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053293.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022