ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)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 | |||
ABI3 | - | - |
GRCh38 GRCh37 |
23 | 38 | |
ATP5MC1 | - | - |
GRCh38 GRCh37 |
- | 23 | |
B4GALNT2 | - | - |
GRCh38 GRCh37 |
39 | 53 | |
CALCOCO2 | - | - |
GRCh38 GRCh37 |
20 | 34 | |
CBX1 | - | - |
GRCh38 GRCh37 |
4 | 11 | |
COPZ2 | - | - |
GRCh38 GRCh37 |
2 | 10 | |
FLJ40194 | - | - | - | GRCh38 | - | 6 |
GIP | - | - |
GRCh38 GRCh37 |
7 | 20 | |
GNGT2 | - | - |
GRCh38 GRCh37 |
3 | 17 | |
HOXB-AS1 | - | - | GRCh38 | - | 42 |
There are 91 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000142900.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024