ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3
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 | |||
BAG3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1091 | 1127 | |
ACADSB | - | - |
GRCh38 GRCh37 |
302 | 358 | |
ARMS2 | - | - |
GRCh38 GRCh37 |
28 | 87 | |
ATE1 | - | - |
GRCh38 GRCh37 |
30 | 77 | |
ATE1-AS1 | - | - | - | GRCh38 | - | 11 |
BTBD16 | - | - | - |
GRCh38 GRCh37 |
29 | 77 |
C10orf120 | - | - | - |
GRCh38 GRCh37 |
2 | 53 |
C10orf88 | - | - | - |
GRCh38 GRCh37 |
5 | 56 |
CUZD1 | - | - |
GRCh38 GRCh37 |
1 | 75 | |
DMBT1 | - | - |
GRCh38 GRCh37 |
193 | 255 |
There are 111 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 12, 2011 | RCV000050701.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023