ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q14.3(chr12:65716808-66690108)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 | |||
HMGA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
30 | 46 | |
IRAK3 | - | - |
GRCh38 GRCh37 |
62 | 82 | |
LLPH | - | - |
GRCh38 GRCh37 |
8 | 25 | |
MSRB3 | - | - |
GRCh38 GRCh37 |
89 | 104 | |
TMBIM4 | - | - |
GRCh38 GRCh37 |
16 | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 24, 2022 | RCV003483155.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024