ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p15.3(chr10:87458-2482736)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 | |||
ZMYND11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
205 | 335 | |
ADARB2 | - | - |
GRCh38 GRCh37 |
76 | 132 | |
ADARB2-AS1 | - | - | - | GRCh38 | - | 16 |
DIP2C | - | - |
GRCh38 GRCh37 |
604 | 773 | |
DIP2C-AS1 | - | - | - | GRCh38 | - | 19 |
GTPBP4 | - | - |
GRCh38 GRCh37 |
45 | 98 | |
IDI1 | - | - |
GRCh38 GRCh37 |
5 | 59 | |
IDI2 | - | - |
GRCh38 GRCh37 |
5 | 67 | |
IDI2-AS1 | - | - | GRCh38 | - | 37 | |
LARP4B | - | - |
GRCh38 GRCh37 |
45 | 94 |
There are 58 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) |
|
Aug 12, 2011 | RCV000052494.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023