ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.3(chr9:135791488-138262981)
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 |
2092 | 2414 | |
NOTCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3501 | 3773 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
361 | 489 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
197 | 280 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 87 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 144 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 214 | |
ARRDC1-AS1 | - | - | - | GRCh38 | - | 97 |
C8G | - | - |
GRCh38 GRCh37 |
32 | 123 | |
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 93 |
There are 317 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV004720522.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024