ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)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 |
3580 | 3702 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
261 | 378 | |
A1CF | - | - |
GRCh38 GRCh37 |
29 | 49 | |
AGAP10 | - | - | - | GRCh37 | - | 103 |
AGAP4 | - | - | - |
GRCh38 GRCh37 |
82 | 120 |
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 126 |
AGAP9 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
ALOX5 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 61 | |
ANTXRL | - | - | - | GRCh38 | - | 55 |
ANXA8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 115 |
There are 298 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000134381.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024