ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q21.32(chr17:44949883-46507482)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
EFCAB13 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
60 | 68 |
ITGB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
609 | 791 | |
CBX1 | - | - |
GRCh38 GRCh37 |
4 | 11 | |
CDC27 | - | - |
GRCh38 GRCh37 |
7 | 14 | |
CDK5RAP3 | - | - |
GRCh38 GRCh37 |
21 | 38 | |
COPZ2 | - | - |
GRCh38 GRCh37 |
2 | 10 | |
GOSR2 | - | - |
GRCh38 GRCh37 |
2 | 334 | |
KPNB1 | - | - |
GRCh38 GRCh37 |
5 | 15 | |
LRRC46 | - | - | - |
GRCh38 GRCh37 |
10 | 19 |
MIR152 | - | - |
GRCh38 GRCh37 |
- | 8 |
There are 16 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 26, 2023 | RCV003236737.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 01, 2023