ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q13.2(chr12:55975308-56593032)
Germline
Classification
(1)
Uncertain significance
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 | |||
RPS26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 155 | |
BLOC1S1 | - | - |
GRCh38 GRCh37 |
- | 21 | |
CD63 | - | - |
GRCh38 GRCh37 |
10 | 137 | |
CDK2 | - | - |
GRCh38 GRCh37 |
5 | 15 | |
DGKA | - | - |
GRCh38 GRCh37 |
45 | 55 | |
DNAJC14 | - | - |
GRCh38 GRCh37 |
42 | 50 | |
ERBB3 | - | - |
GRCh38 GRCh37 |
155 | 165 | |
ESYT1 | - | - |
GRCh38 GRCh37 |
76 | 100 | |
GDF11 | - | - |
GRCh38 GRCh37 |
24 | 32 | |
IKZF4 | - | - |
GRCh38 GRCh37 |
18 | 39 |
There are 17 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052996.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023