ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3
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 | |||
ADORA2B | - | - |
GRCh38 GRCh37 |
18 | 65 | |
CCDC144A | - | - |
GRCh38 GRCh37 |
44 | 117 | |
CENPV | - | - |
GRCh38 GRCh37 |
4 | 57 | |
FAM106C | - | - | - | GRCh38 | - | 41 |
LINC02087 | - | - | - | GRCh38 | - | 12 |
LOC106020709 | - | - | - | GRCh38 | - | 44 |
LOC106020711 | - | - | - | GRCh38 | - | 12 |
LOC108745275 | - | - | - | GRCh38 | - | 42 |
LOC112529897 | - | - | - | GRCh38 | - | 16 |
LOC116276455 | - | - | - | GRCh38 | - | 16 |
There are 56 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 7, 2013 | RCV000141771.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023