ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)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 |
142 | 155 | |
CDK4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
561 | 1069 | |
AGAP2 | - | - |
GRCh38 GRCh37 |
49 | 93 | |
ANKRD52 | - | - | - |
GRCh38 GRCh37 |
33 | 47 |
APOF | - | - |
GRCh38 GRCh37 |
20 | 28 | |
ARHGAP9 | - | - |
GRCh38 GRCh37 |
34 | 83 | |
ARHGEF25 | - | - |
GRCh38 GRCh37 |
46 | 60 | |
ATP23 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 11 | |
ATP5F1B | - | - |
GRCh38 GRCh37 |
21 | 28 | |
AVIL | - | - |
GRCh38 GRCh37 |
85 | 127 |
There are 97 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 5, 2018 | RCV001006505.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023