ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p21.1(chr7:17930595-18209019)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 | |||
HDAC9 | - | - |
GRCh38 GRCh37 |
57 | 111 | |
LOC111591502 | - | - | - | GRCh38 | - | 17 |
LOC129389759 | - | - | - | GRCh38 | - | 17 |
LOC129389760 | - | - | - | GRCh38 | - | 17 |
LOC129998016 | - | - | - | GRCh38 | - | 17 |
LOC129998017 | - | - | - | GRCh38 | - | 17 |
LOC129998018 | - | - | - | GRCh38 | - | 17 |
MIR1302-6 | - | - | - | GRCh38 | - | 17 |
PRPS1L1 | - | - |
GRCh38 GRCh37 |
22 | 66 | |
SNX13 | - | - |
GRCh38 GRCh37 |
58 | 111 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052302.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023