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 |
2639 | 3425 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4766 | 4817 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
322 | 417 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 83 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
737 | 800 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
276 | 314 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
192 | 254 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
AK8 | - | - |
GRCh38 GRCh37 |
43 | 86 | |
BARHL1 | - | - |
GRCh38 GRCh37 |
15 | 53 |
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 | RCV003122286.3 | |
Uncertain significance (1) |
|
Oct 25, 2022 | RCV003111108.3 | |
Uncertain significance (1) |
|
Oct 25, 2022 | RCV003122287.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024