ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q24.1(chr6:139002616-140199336)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 | |||
CITED2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
37 | 70 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
4 | 19 |
FILNC1 | - | - | - | GRCh38 | - | 7 |
HECA | - | - |
GRCh38 GRCh37 |
2 | 32 | |
LINC01625 | - | - | - | GRCh38 | - | 7 |
LINC02941 | - | - | - | GRCh38 | - | 6 |
LOC102723690 | - | - | - | GRCh38 | - | 20 |
LOC103352541 | - | - | - | GRCh38 | - | 6 |
LOC110121174 | - | - | - | GRCh38 | - | 7 |
LOC111589214 | - | - | - | GRCh38 | - | 7 |
There are 34 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 2, 2011 | RCV000137989.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023