ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q21(chr6:107010730-108039165)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 | |||
BEND3 | - | - |
GRCh38 GRCh37 |
42 | 66 | |
LOC123775394 | - | - | - | GRCh38 | - | 10 |
LOC123775395 | - | - | - | GRCh38 | - | 9 |
LOC123775396 | - | - | - | GRCh38 | - | 9 |
LOC129389601 | - | - | - | GRCh38 | - | 8 |
LOC129389602 | - | - | - | GRCh38 | - | 9 |
LOC129996918 | - | - | - | GRCh38 | - | 7 |
LOC129996919 | - | - | - | GRCh38 | - | 7 |
LOC129996920 | - | - | - | GRCh38 | - | 7 |
LOC129996921 | - | - | - | GRCh38 | - | 7 |
There are 16 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) |
|
Nov 30, 2010 | RCV000135360.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023