ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3
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 | |||
DLG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
78 | 116 | |
ANKRD42 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
ANKRD42-DT | - | - | - | GRCh38 | - | 8 |
CCDC83 | - | - | - |
GRCh38 GRCh37 |
27 | 56 |
CCDC89 | - | - | - |
GRCh38 GRCh37 |
29 | 54 |
CCDC90B | - | - |
GRCh38 GRCh37 |
24 | 41 | |
CCDC90B-AS1 | - | - | - | GRCh38 | - | 4 |
CREBZF | - | - |
GRCh38 GRCh37 |
10 | 47 | |
DDIAS | - | - |
GRCh38 GRCh37 |
45 | 59 | |
DLG2-AS2 | - | - | - | GRCh38 | - | 4 |
There are 109 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 | RCV000053637.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024