ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3
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 | |||
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 3500 | |
NODAL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 161 | |
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
23 | 40 | |
CTNNA3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 998 | |
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 421 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
246 | 361 | |
A1CF | - | - |
GRCh38 GRCh37 |
22 | 42 | |
ADAMTS14 | - | - |
GRCh38 GRCh37 |
88 | 103 | |
ADO | - | - |
GRCh38 GRCh37 |
5 | 25 | |
AGAP10 | - | - | - | GRCh37 | - | 100 |
There are 894 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 30, 2010 | RCV000134848.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023