ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)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 |
394 | 431 | |
CALHM4 | - | - | - |
GRCh38 GRCh37 |
10 | 44 |
CALHM5 | - | - | - |
GRCh38 GRCh37 |
- | 50 |
CALHM6 | - | - |
GRCh38 GRCh37 |
- | 50 | |
COL10A1 | - | - |
GRCh38 GRCh37 |
1 | 462 | |
DCBLD1 | - | - | - |
GRCh38 GRCh37 |
28 | 77 |
DSE | - | - |
GRCh38 GRCh37 |
342 | 427 | |
FAM162B | - | - | - |
GRCh38 GRCh37 |
18 | 48 |
FRK | - | - |
GRCh38 GRCh37 |
27 | 56 | |
GOPC | - | - |
GRCh38 GRCh37 |
16 | 60 |
There are 17 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) |
|
- | RCV000157073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023