ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)
Germline
Classification
(1)
Likely 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 | |||
TGFBR2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1147 | 1173 | |
AZI2 | - | - |
GRCh38 GRCh37 |
9 | 34 | |
CMC1 | - | - |
GRCh38 GRCh37 |
8 | 34 | |
CMTM6 | - | - |
GRCh38 GRCh37 |
3 | 24 | |
CMTM7 | - | - |
GRCh38 GRCh37 |
9 | 26 | |
CMTM8 | - | - |
GRCh38 GRCh37 |
12 | 31 | |
DYNC1LI1 | - | - |
GRCh38 GRCh37 |
21 | 37 | |
EOMES | - | - |
GRCh38 GRCh37 |
37 | 69 | |
GADL1 | - | - |
GRCh38 GRCh37 |
39 | 58 | |
GPD1L | - | - |
GRCh38 GRCh37 |
360 | 396 |
There are 12 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053334.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022