ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)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 |
3522 | 3642 | |
CTNNA3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
958 | 1027 | |
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
399 | 423 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
254 | 370 | |
A1CF | - | - |
GRCh38 GRCh37 |
28 | 48 | |
ADO | - | - |
GRCh38 GRCh37 |
11 | 31 | |
AGAP10 | - | - | - | GRCh37 | - | 103 |
AGAP4 | - | - | - |
GRCh38 GRCh37 |
73 | 110 |
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 121 |
AGAP9 | - | - | - |
GRCh38 GRCh37 |
- | 110 |
There are 553 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) |
|
Aug 20, 2012 | RCV000142967.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023