ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)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 |
1984 | 2216 | |
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2631 | 3415 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4738 | 4787 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
318 | 412 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 82 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
732 | 793 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
276 | 313 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
191 | 252 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
AK8 | - | - |
GRCh38 GRCh37 |
43 | 84 |
There are 122 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 10, 2018 | RCV000683160.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023