ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1
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 |
2074 | 2384 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 205 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 97 |
CACNA1B | - | - |
GRCh38 GRCh37 |
1398 | 1688 | |
CACNA1B-AS1 | - | - | - | GRCh38 | - | 83 |
DPH7 | - | - |
GRCh38 GRCh37 |
36 | 177 | |
LOC100133077 | - | - | - | GRCh38 | - | 166 |
LOC101928786 | - | - | - | GRCh38 | - | 117 |
LOC108254695 | - | - | - | GRCh38 | - | 94 |
LOC108281115 | - | - | - | GRCh38 | - | 89 |
There are 38 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) |
|
Aug 12, 2011 | RCV000052953.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023