ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_135139626)_(140034216_?)dup
Germline
Classification
(4)
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 |
2611 | 3392 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4614 | 4663 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
267 | 358 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 82 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
718 | 776 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
268 | 305 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
184 | 245 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
AK8 | - | - |
GRCh38 GRCh37 |
29 | 70 | |
BARHL1 | - | - |
GRCh38 GRCh37 |
11 | 47 |
There are 92 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 25, 2022 | RCV003111109.2 | |
Uncertain significance (1) |
|
Oct 25, 2022 | RCV003111108.3 | |
Uncertain significance (1) |
|
Oct 25, 2022 | RCV003122286.3 | |
Uncertain significance (1) |
|
Oct 25, 2022 | RCV003122287.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023