ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:136323974-138124532)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 |
1983 | 2215 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
315 | 409 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
190 | 251 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
35 | 105 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
39 | 139 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 40 |
C8G | - | - |
GRCh38 GRCh37 |
28 | 89 | |
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 72 |
CACNA1B | - | - |
GRCh38 GRCh37 |
1359 | 1590 |
There are 276 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051116.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024