ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.3(chr9:138222049-141018925)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 |
1986 | 2219 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
320 | 414 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
191 | 252 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
35 | 105 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
39 | 140 | |
C8G | - | - |
GRCh38 GRCh37 |
28 | 89 | |
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 72 |
CACNA1B | - | - |
GRCh38 GRCh37 |
1363 | 1594 | |
CAMSAP1 | - | - |
GRCh38 GRCh37 |
98 | 156 |
There are 80 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000446074.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024