ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q27(chr6:166370159-170602152)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 | |||
DLL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
432 | 596 | |
ERMARD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
280 | 360 | |
UNC93A | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
37 | 96 | |
AFDN | - | - |
GRCh38 GRCh37 |
18 | 86 | |
AFDN-DT | - | - | - | GRCh38 | - | 19 |
C6orf120 | - | - |
GRCh38 GRCh37 |
- | 84 | |
CCR6 | - | - |
GRCh38 GRCh37 |
15 | 67 | |
CEP43 | - | - |
GRCh38 GRCh37 |
32 | 95 | |
DACT2 | - | - |
GRCh38 GRCh37 |
79 | 149 | |
DYNLT2 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 91 |
There are 161 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 | RCV000052227.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024