ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.22(chr7:69828711-70038445)x1
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 | |||
AUTS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
981 | 1048 | |
LOC110121181 | - | - | - | GRCh38 | - | 12 |
LOC110121297 | - | - | - | GRCh38 | - | 11 |
LOC129998555 | - | - | - | GRCh38 | - | 11 |
LOC129998556 | - | - | - | GRCh38 | - | 11 |
LOC129998557 | - | - | - | GRCh38 | - | 10 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000134331.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023