ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1
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 |
379 | 415 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
291 | 315 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 35 | |
C6orf58 | - | - | - |
GRCh38 GRCh37 |
3 | 26 |
CALHM4 | - | - | - |
GRCh38 GRCh37 |
9 | 41 |
CALHM5 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
CALHM6 | - | - |
GRCh38 GRCh37 |
- | 47 | |
CALHM6-AS1 | - | - | - | GRCh38 | - | 29 |
CENPW | - | - |
GRCh38 GRCh37 |
3 | 25 | |
CEP85L | - | - |
GRCh38 GRCh37 |
85 | 279 |
There are 246 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052196.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023