ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1
Germline
Classification
(1)
Likely 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 |
1482 | 1517 | |
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
170 | 186 | |
ABTB1 | - | - |
GRCh38 GRCh37 |
45 | 60 | |
ACAD11 | - | - |
GRCh38 GRCh37 |
- | 66 | |
ACAD9 | - | - |
GRCh38 GRCh37 |
771 | 1039 | |
ACAD9-DT | - | - | - | GRCh38 | - | 11 |
ACKR4 | - | - |
GRCh38 GRCh37 |
- | 20 | |
ACP3 | - | - |
GRCh38 GRCh37 |
25 | 39 | |
ALG1L2 | - | - | - |
GRCh38 GRCh37 |
13 | 43 |
ASTE1 | - | - |
GRCh38 GRCh37 |
19 | 41 |
There are 240 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 10, 2012 | RCV000142787.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024