ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.33-31.1(chr9:99465640-100281736)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ERP44 | - | - |
GRCh38 GRCh37 |
18 | 59 | |
INVS | - | - |
GRCh38 GRCh37 |
973 | 1017 | |
LOC101928438 | - | - | - | GRCh38 | - | 19 |
LOC124310615 | - | - | - | GRCh38 | - | 18 |
LOC126860703 | - | - | - | GRCh38 | - | 22 |
LOC130002238 | - | - | - | GRCh38 | - | 18 |
LOC130002239 | - | - | - | GRCh38 | - | 18 |
LOC130002240 | - | - | - | GRCh38 | - | 18 |
LOC130002241 | - | - | - | GRCh38 | - | 18 |
LOC130002242 | - | - | - | GRCh38 | - | 19 |
There are 13 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051063.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024