ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:136877772-138124524)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 |
2084 | 2394 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
358 | 481 | |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 205 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 97 |
C8G | - | - |
GRCh38 GRCh37 |
32 | 119 | |
CACNA1B | - | - |
GRCh38 GRCh37 |
1405 | 1695 | |
CACNA1B-AS1 | - | - | - | GRCh38 | - | 83 |
CIMIP2A | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
CLIC3 | - | - |
GRCh38 GRCh37 |
19 | 107 |
There are 168 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) |
|
Sep 21, 2012 | RCV000142978.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024