ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1
Germline
Classification
(1)
Pathogenic
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 |
1208 | 1342 | |
CRHR1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 76 | |
MAPT | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
495 | 624 | |
LINC02210 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 31 |
LINC02210-CRHR1 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 52 |
LOC121852934 | - | - | - |
GRCh38 GRCh38 |
- | 33 |
LOC126862576 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 33 |
LOC129390878 | - | - | - |
GRCh38 GRCh38 |
- | 37 |
MAPT-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 110 |
MAPT-IT1 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 33 |
There are 2 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000137230.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023