ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
379 | 415 | |
LOC101927919 | - | - | - | GRCh38 | - | 15 |
LOC126859772 | - | - | - | GRCh38 | - | 12 |
LOC129389624 | - | - | - | GRCh38 | - | 15 |
LOC129389625 | - | - | - | GRCh38 | - | 15 |
LOC129997069 | - | - | - | GRCh38 | - | 15 |
SLC35F1 | - | - |
GRCh38 GRCh37 |
22 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000157074.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023