ClinVar Genomic variation as it relates to human health
Single allele
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 | |||
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 | |
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 | |
AKAP17A |
|
- | - |
GRCh38 GRCh38 |
- | 110 |
AMELY | - | - |
GRCh38 GRCh37 |
1 | 78 | |
ASMT |
|
- | - |
GRCh38 GRCh38 |
14 | 129 |
ASMTL |
|
- | - |
GRCh38 GRCh38 |
1 | 119 |
There are 152 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 20, 2018 | RCV000754378.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024