ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)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 | |||
KAT2B | - | - |
GRCh38 GRCh37 |
99 | 123 | |
LOC101927829 | - | - | - |
GRCh38 GRCh38 |
- | 8 |
LOC112935927 | - | - | - | GRCh38 | - | 8 |
LOC126806626 | - | - | - | GRCh38 | - | 7 |
LOC126806627 | - | - | - | GRCh38 | - | 6 |
LOC126806628 | - | - | - | GRCh38 | - | 8 |
LOC129389031 | - | - | - | GRCh38 | - | 9 |
LOC129389032 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
LOC129389033 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
LOC129389034 | - | - | - | GRCh38 | - | 8 |
There are 69 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051508.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024