ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3
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 | |||
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2630 | 3414 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4738 | 4787 | |
ABL1 | - | - |
GRCh38 GRCh37 |
555 | 615 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 82 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
732 | 793 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
276 | 313 | |
AIF1L | - | - | - |
GRCh38 GRCh37 |
7 | 42 |
AK8 | - | - |
GRCh38 GRCh37 |
43 | 84 | |
ASB6 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
ASS1 | - | - |
GRCh38 GRCh37 |
795 | 844 |
There are 528 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 | RCV000053779.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024