ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p13(chr11:32986646-33573778)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 | |||
CSTF3 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
CSTF3-DT | - | - | - | GRCh38 | - | 5 |
DEPDC7 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
HIPK3 | - | - |
GRCh38 GRCh37 |
50 | 78 | |
KIAA1549L | - | - |
GRCh38 GRCh37 |
103 | 131 | |
LINC00294 | - | - |
GRCh38 GRCh37 |
- | 28 | |
LOC126861177 | - | - | - | GRCh38 | - | 7 |
LOC130005490 | - | - | - | GRCh38 | - | 5 |
LOC130005491 | - | - | - | GRCh38 | - | 5 |
LOC130005492 | - | - | - | GRCh38 | - | 5 |
There are 18 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) |
|
Dec 22, 2010 | RCV000136534.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024