ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q21.31(chr17:46094551-46291496)x3
Germline
Classification
(1)
Benign
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 | |||
KANSL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
1216 | 1350 | |
ARL17B | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
KANSL1-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 39 |
LOC126862577 | - | - | - |
GRCh38 GRCh38 |
- | 29 |
LOC129390878 | - | - | - |
GRCh38 GRCh38 |
- | 37 |
LRRC37A | - | - |
GRCh38 GRCh38 GRCh37 |
- | 104 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Mar 8, 2011 | RCV000136371.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024