ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3
Germline
Classification
(1)
Uncertain significance
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 |
1981 | 2213 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
33 | 133 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 40 |
DPH7 | - | - |
GRCh38 GRCh37 |
25 | 114 | |
LOC108281113 | - | - | - | GRCh38 | - | 45 |
LOC113839542 | - | - | - | GRCh38 | - | 37 |
LOC121366036 | - | - | - | GRCh38 | - | 39 |
LOC124375254 | - | - | - | GRCh38 | - | 41 |
LOC126860798 | - | - | - | GRCh38 | - | 36 |
LOC130003123 | - | - | - | GRCh38 | - | 36 |
There are 19 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 30, 2017 | RCV000052889.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023