ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1
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 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
39 | 139 | |
CACNA1B | - | - |
GRCh38 GRCh37 |
1359 | 1590 | |
DPH7 | - | - |
GRCh38 GRCh37 |
30 | 121 | |
LOC651337 | - | - | - |
GRCh38 GRCh37 |
- | 121 |
MRPL41 | - | - |
GRCh38 GRCh37 |
9 | 97 | |
PNPLA7 | - | - |
GRCh38 GRCh37 |
124 | 225 | |
ZMYND19 | - | - |
GRCh38 GRCh37 |
10 | 99 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 9, 2017 | RCV000683137.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022