ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)
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 | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
394 | 431 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 38 | |
CALHM4 | - | - | - |
GRCh38 GRCh37 |
10 | 44 |
CALHM5 | - | - | - |
GRCh38 GRCh37 |
- | 50 |
CALHM6 | - | - |
GRCh38 GRCh37 |
- | 50 | |
CEP85L | - | - |
GRCh38 GRCh37 |
98 | 295 | |
COL10A1 | - | - |
GRCh38 GRCh37 |
1 | 462 | |
DCBLD1 | - | - | - |
GRCh38 GRCh37 |
28 | 77 |
DSE | - | - |
GRCh38 GRCh37 |
343 | 428 | |
FAM162B | - | - | - |
GRCh38 GRCh37 |
18 | 48 |
There are 18 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) |
|
Apr 27, 2023 | RCV002053610.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024