ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3
Germline
Classification
(1)
Pathogenic
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 |
352 | 398 | |
ZMYND11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
224 | 359 | |
UPF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 103 | |
ACBD7 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
ACBD7-DCLRE1CP1 | - | - | - | GRCh38 | - | 37 |
ADARB2 | - | - |
GRCh38 GRCh37 |
84 | 140 | |
ADARB2-AS1 | - | - | - | GRCh38 | - | 16 |
AKR1C1 | - | - |
GRCh38 GRCh37 |
31 | 72 | |
AKR1C2 | - | - |
GRCh38 GRCh37 |
82 | 131 | |
AKR1C3 | - | - |
GRCh38 GRCh37 |
30 | 72 |
There are 672 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053507.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023