ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1
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 | |||
GATA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1501 | 1536 | |
ABTB1 | - | - |
GRCh38 GRCh37 |
52 | 67 | |
ACAD9 | - | - |
GRCh38 GRCh37 |
784 | 1058 | |
ACAD9-DT | - | - | - | GRCh38 | - | 11 |
CFAP92 | - | - | - |
GRCh38 GRCh37 |
25 | 282 |
CHCHD6 | - | - |
GRCh38 GRCh37 |
16 | 38 | |
DNAJB8 | - | - |
GRCh38 GRCh37 |
22 | 41 | |
DNAJB8-AS1 | - | - | - | GRCh38 | - | 6 |
EEFSEC | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 79 | |
GATA2-AS1 | - | - | - | GRCh38 | - | 20 |
There are 116 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) |
|
Feb 16, 2018 | RCV000137444.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024