ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.13(chr12:112307532-112722967)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 | |||
PTPN11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
944 | 956 | |
RPH3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
34 | 42 | |
HECTD4 | - | - |
GRCh38 GRCh37 |
157 | 165 | |
LOC130008809 | - | - | - | GRCh38 | - | 3 |
LOC130008810 | - | - | - | GRCh38 | - | 3 |
MIR1302-1 | - | - | - | GRCh38 | - | 2 |
RPL6 | - | - |
GRCh38 GRCh37 |
6 | 18 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053687.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023