ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1770 | 2096 | |
DLL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
404 | 571 | |
ERMARD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
260 | 344 | |
UNC93A | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
28 | 94 | |
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 149 | |
ACAT2 | - | - |
GRCh38 GRCh37 |
20 | 56 | |
AFDN | - | - |
GRCh38 GRCh37 |
17 | 93 | |
AFDN-DT | - | - | - | GRCh38 | - | 19 |
AGPAT4 | - | - |
GRCh38 GRCh37 |
9 | 49 | |
AGPAT4-IT1 | - | - | - | GRCh38 | - | 14 |
There are 563 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000142594.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023