ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1
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 | |||
DLL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
439 | 604 | |
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 | |
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
160 | 189 | |
AFDN | - | - |
GRCh38 GRCh37 |
18 | 86 | |
AFDN-DT | - | - | - | GRCh38 | - | 19 |
AGPAT4 | - | - |
GRCh38 GRCh37 |
12 | 47 | |
AGPAT4-IT1 | - | - | - | GRCh38 | - | 14 |
AIRN | - | - |
GRCh38 GRCh37 |
- | 23 | |
C6orf118 | - | - | - |
GRCh38 GRCh37 |
6 | 55 |
There are 315 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) |
|
Sep 17, 2012 | RCV000139636.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024