ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)
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 | |||
GATA3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
338 | 382 | |
AKR1C1 | - | - |
GRCh38 GRCh37 |
28 | 69 | |
AKR1C2 | - | - |
GRCh38 GRCh37 |
82 | 131 | |
AKR1C3 | - | - |
GRCh38 GRCh37 |
27 | 69 | |
AKR1C4 | - | - |
GRCh38 GRCh37 |
65 | 102 | |
AKR1E2 | - | - |
GRCh38 GRCh37 |
116 | 154 | |
ANKRD16 | - | - |
GRCh38 GRCh37 |
21 | 59 | |
ASB13 | - | - |
GRCh38 GRCh37 |
13 | 47 | |
ATP5F1C | - | - |
GRCh38 GRCh37 |
9 | 42 | |
CALML3 | - | - |
GRCh38 GRCh37 |
- | 44 |
There are 21 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 | RCV002052861.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022