ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1
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 | |||
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
11 | 70 | |
ACADSB | - | - |
GRCh38 GRCh37 |
302 | 358 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
41 | 113 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
62 | 174 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
31 | 144 | |
ADGRA1-AS1 | - | - | - | GRCh38 | - | 43 |
ARMS2 | - | - |
GRCh38 GRCh37 |
28 | 87 | |
AS-PTPRE | - | - | - | GRCh38 | - | 32 |
ATE1 | - | - |
GRCh38 GRCh37 |
30 | 77 | |
ATE1-AS1 | - | - | - | GRCh38 | - | 11 |
There are 410 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051103.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023