ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3
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 |
416 | 580 | |
ERMARD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
275 | 353 | |
UNC93A | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
34 | 93 | |
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
150 | 179 | |
ACAT2 | - | - |
GRCh38 GRCh37 |
26 | 58 | |
AFDN | - | - |
GRCh38 GRCh37 |
18 | 86 | |
AGPAT4 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
AIRN | - | - |
GRCh38 GRCh37 |
- | 23 | |
C6orf118 | - | - | - |
GRCh38 GRCh37 |
6 | 55 |
C6orf120 | - | - |
GRCh38 GRCh37 |
- | 83 |
There are 41 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) |
|
Sep 5, 2017 | RCV000682734.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023