ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3
Germline
Classification
(1)
conflicting data from submitters
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 | |||
CEP162 | - | - |
GRCh38 GRCh37 |
69 | 107 | |
CYB5R4 | - | - |
GRCh38 GRCh37 |
- | 58 | |
MRAP2 | - | - |
GRCh38 GRCh37 |
88 | 129 | |
RIPPLY2 | - | - |
GRCh38 GRCh37 |
2 | 95 | |
SNAP91 | - | - |
GRCh38 GRCh37 |
63 | 90 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
conflicting data from submitters (1) |
|
May 7, 2015 | RCV000511181.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024