ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_134379574)_(138678377_?)dup
Germline
Classification
(1)
Uncertain significance
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 |
2638 | 3423 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4766 | 4817 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 83 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
736 | 798 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
276 | 314 | |
AK8 | - | - |
GRCh38 GRCh37 |
43 | 86 | |
BARHL1 | - | - |
GRCh38 GRCh37 |
15 | 53 | |
BRD3 | - | - |
GRCh38 GRCh37 |
36 | 75 | |
CACFD1 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 52 | |
CEL | - | - |
GRCh38 GRCh37 |
231 | 275 |
There are 47 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 17, 2018 | RCV000807925.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023