ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3
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 |
1983 | 2215 | |
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2630 | 3414 | |
ENG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1082 | 1584 | |
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
578 | 619 | |
STXBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1055 | 1146 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4737 | 4786 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
315 | 409 | |
ABL1 | - | - |
GRCh38 GRCh37 |
555 | 615 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 82 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
731 | 792 |
There are 220 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) |
|
- | RCV000447080.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024