ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q24.2(chr6:143618974-144413183)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 | |||
HYMAI | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 18 | |
PLAGL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 58 | |
LOC113146422 | - | - | - | GRCh38 | - | 4 |
LOC123864090 | - | - | - | GRCh38 | - | 4 |
LOC123864091 | - | - | - | GRCh38 | - | 4 |
LOC126859818 | - | - | - | GRCh38 | - | 4 |
LOC129389670 | - | - | - | GRCh38 | - | 4 |
LOC129389671 | - | - | - | GRCh38 | - | 4 |
LOC129389672 | - | - | - | GRCh38 | - | 4 |
LOC129389673 | - | - | - | GRCh38 | - | 4 |
There are 37 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) |
|
May 14, 2013 | RCV000141785.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024