ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3
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 | |||
RPS26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
140 | 153 | |
AMHR2 | - | - |
GRCh38 GRCh37 |
107 | 121 | |
ATF7 | - | - |
GRCh38 GRCh37 |
- | 14 | |
ATF7-NPFF | - | - | - | GRCh38 | - | 16 |
ATP5MC2 | - | - |
GRCh38 GRCh37 |
10 | 21 | |
BLOC1S1 | - | - |
GRCh38 GRCh37 |
- | 17 | |
BLOC1S1-RDH5 | - | - | - | GRCh38 | - | 279 |
CALCOCO1 | - | - | - |
GRCh38 GRCh37 |
40 | 53 |
CBX5 | - | - |
GRCh38 GRCh37 |
- | 7 | |
CD63 | - | - |
GRCh38 GRCh37 |
9 | 135 |
There are 211 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000141435.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023