ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)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 |
1481 | 1516 | |
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1725 | 2050 | |
ARHGAP31 | No evidence available | No evidence available |
GRCh38 GRCh37 |
441 | 462 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2575 | 2598 | |
ABTB1 | - | - |
GRCh38 GRCh37 |
34 | 49 | |
ADCY5 | - | - |
GRCh38 GRCh37 |
729 | 756 | |
ADPRH | - | - |
GRCh38 GRCh37 |
8 | 31 | |
ALDH1L1 | - | - |
GRCh38 GRCh37 |
56 | 81 | |
ALDH1L1-AS1 | - | - | - | GRCh38 | - | 11 |
ALDH1L1-AS2 | - | - | - | GRCh38 | - | 7 |
There are 562 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 14, 2012 | RCV000139033.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024