ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)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 |
1983 | 2215 | |
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2630 | 3414 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
315 | 409 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
275 | 312 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
190 | 251 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
35 | 105 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
39 | 139 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 40 |
BRD3 | - | - |
GRCh38 GRCh37 |
36 | 74 |
There are 431 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) |
|
Jun 1, 2012 | RCV000137825.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024