ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3
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 | |||
GAS7 | - | - |
GRCh38 GRCh37 |
69 | 97 | |
LOC112529894 | - | - | - | GRCh38 | - | 11 |
LOC121852922 | - | - | - | GRCh38 | - | 11 |
LOC126862491 | - | - | - | GRCh38 | - | 11 |
LOC126862492 | - | - | - | GRCh38 | - | 11 |
LOC126862493 | - | - | - | GRCh38 | - | 39 |
LOC126862494 | - | - | - | GRCh38 | - | 52 |
LOC126862495 | - | - | - | GRCh38 | - | 24 |
LOC126862496 | - | - | - | GRCh38 | - | 18 |
LOC126862497 | - | - | - | GRCh38 | - | 14 |
There are 10 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 18, 2021 | RCV001420506.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023