ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0
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 | |||
BPY2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 96 | |
CDY1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 94 | |
DAZ1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 99 | |
VAMP7 | No evidence available | No evidence available |
GRCh38 GRCh38 |
8 | 127 | |
BPY2B | - | - | - |
GRCh38 GRCh37 |
- | 102 |
BPY2C | - | - | - |
GRCh38 GRCh37 |
- | 100 |
CDY1B | - | - | - | GRCh38 | - | 31 |
CDY2A | - | - |
GRCh38 GRCh37 |
1 | 82 | |
CDY2B | - | - | - | GRCh38 | - | 35 |
DAZ2 | - | - |
GRCh38 GRCh37 |
- | 98 |
There are 69 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 4, 2013 | RCV000141809.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024