ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3
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 | |||
EHMT1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1999 | 2236 | |
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2655 | 3443 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
344 | 439 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
197 | 259 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 148 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 40 |
BRD3 | - | - |
GRCh38 GRCh37 |
43 | 82 | |
BRD3OS | - | - | - | GRCh38 | - | 20 |
There are 397 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) |
|
Sep 21, 2012 | RCV000139807.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024