ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:136993278-138200863)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
2062 | 2371 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
354 | 475 | |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 205 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 97 |
CACNA1B | - | - |
GRCh38 GRCh37 |
1394 | 1684 | |
CACNA1B-AS1 | - | - | - | GRCh38 | - | 83 |
CIMIP2A | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
CLIC3 | - | - |
GRCh38 GRCh37 |
19 | 107 | |
CYSRT1 | - | - | - |
GRCh38 GRCh37 |
19 | 118 |
There are 146 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV004720533.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024