ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3
Germline
Classification
(1)
Likely 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 | |||
SHOX |
|
Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
155 | 351 |
SRY | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
58 | 124 | |
AKAP17A |
|
- | - |
GRCh38 GRCh38 |
- | 110 |
AMELY | - | - |
GRCh38 GRCh37 |
1 | 78 | |
ASMT |
|
- | - |
GRCh38 GRCh38 |
14 | 129 |
ASMTL |
|
- | - |
GRCh38 GRCh38 |
1 | 119 |
ASMTL-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 116 |
CD99 |
|
- | - |
GRCh38 GRCh38 |
2 | 106 |
CNE-2 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
1 | 128 |
CNE-3 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
2 | 126 |
There are 75 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
|
Likely pathogenic (1) |
|
May 7, 2013 | RCV000143419.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024