ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)
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 |
140 | 153 | |
ANKRD52 | - | - | - |
GRCh38 GRCh37 |
30 | 44 |
APOF | - | - |
GRCh38 GRCh37 |
16 | 23 | |
BAZ2A | - | - |
GRCh38 GRCh37 |
99 | 106 | |
CDK2 | - | - |
GRCh38 GRCh37 |
4 | 14 | |
CNPY2 | - | - |
GRCh38 GRCh37 |
8 | 15 | |
COQ10A | - | - | - |
GRCh38 GRCh37 |
14 | 21 |
CS | - | - |
GRCh38 GRCh37 |
17 | 26 | |
DGKA | - | - |
GRCh38 GRCh37 |
42 | 52 | |
ERBB3 | - | - |
GRCh38 GRCh37 |
145 | 155 |
There are 22 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 | RCV002052997.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023