ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.2(chr4:68501374-69255507)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 | |||
LOC105377267 | - | - | - | GRCh38 | - | 71 |
LOC111589210 | - | - | - | GRCh38 | - | 14 |
LOC114803476 | - | - | - | GRCh38 | - | 25 |
LOC126807070 | - | - | - |
GRCh38 GRCh38 |
- | 26 |
LOC129389214 | - | - | - | GRCh38 | - | 14 |
LOC129389215 | - | - | - | GRCh38 | - | 15 |
LOC129992656 | - | - | - | GRCh38 | - | 14 |
UGT2A3 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 76 | |
UGT2B10 | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 76 | |
UGT2B11 | - | - |
GRCh38 GRCh37 |
- | 88 |
There are 3 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) |
|
Sep 3, 2013 | RCV000143578.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024