ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q12(chr17:39365569-39612092)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 | |||
CDK12 | - | - |
GRCh38 GRCh37 |
99 | 134 | |
FBXL20 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
LOC125177467 | - | - | - | GRCh38 | - | 5 |
LOC126862553 | - | - | - | GRCh38 | - | 29 |
LOC130060755 | - | - | - | GRCh38 | - | 5 |
LOC130060756 | - | - | - | GRCh38 | - | 5 |
LOC130060757 | - | - | - | GRCh38 | - | 5 |
LOC130060758 | - | - | - | GRCh38 | - | 5 |
LOC130060759 | - | - | - | GRCh38 | - | 5 |
MED1 | - | - |
GRCh38 GRCh37 |
59 | 71 |
There is 1 more gene 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 | RCV000054044.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023