ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_130781014)_(150301047_?)del
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 | |||
BRAF | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1242 | 1354 | |
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1832 | 1993 | |
UBN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
93 | 152 | |
PRSS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 826 | |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
22 | 93 |
ADCK2 | - | - | - |
GRCh38 GRCh37 |
47 | 91 |
AGBL3 | - | - |
GRCh38 GRCh37 |
47 | 96 | |
AGK | - | - |
GRCh38 GRCh38 GRCh37 |
348 | 397 | |
AKR1B1 | - | - |
GRCh38 GRCh37 |
14 | 53 | |
AKR1B10 | - | - |
GRCh38 GRCh37 |
19 | 53 |
There are 133 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) |
|
Dec 15, 2022 | RCV003116360.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024