ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.3(chr9:140309120-141018925)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 | |
ENTPD8 | - | - |
GRCh38 GRCh37 |
59 | 132 | |
EXD3 | - | - | - |
GRCh38 GRCh37 |
102 | 177 |
LOC651337 | - | - | - |
GRCh38 GRCh37 |
- | 121 |
MRPL41 | - | - |
GRCh38 GRCh37 |
9 | 97 | |
NOXA1 | - | - |
GRCh38 GRCh37 |
35 | 108 | |
NSMF | - | - |
GRCh38 GRCh37 |
107 | 222 |
There are 2 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) |
|
- | RCV000449201.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024