ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q21.13-21.2(chr9:76127281-76968483)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
GCNT1 | - | - |
GRCh38 GRCh37 |
- | - | |
LOC113839560 | - | - | - | GRCh38 | - | - |
LOC121331329 | - | - | - | GRCh38 | - | - |
LOC124310568 | - | - | - | GRCh38 | - | - |
LOC124310569 | - | - | - | GRCh38 | - | - |
LOC126860647 | - | - | - | GRCh38 | - | - |
LOC130001904 | - | - | - | GRCh38 | - | - |
LOC130001905 | - | - | - | GRCh38 | - | - |
LOC130001906 | - | - | - | GRCh38 | - | - |
LOC130001907 | - | - | - | GRCh38 | - | - |
There are 16 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) |
|
Nov 16, 2011 | RCV000137965.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024