ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q14.3(chr12:65462762-66830065)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 | |||
LEMD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
546 | 632 | |
HMGA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
30 | 46 | |
GRIP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
665 | 682 | |
HELB | - | - |
GRCh38 GRCh37 |
68 | 85 | |
IRAK3 | - | - |
GRCh38 GRCh37 |
62 | 82 | |
LLPH | - | - |
GRCh38 GRCh37 |
7 | 24 | |
MSRB3 | - | - |
GRCh38 GRCh37 |
89 | 104 | |
TMBIM4 | - | - |
GRCh38 GRCh37 |
14 | 31 | |
WIF1 | - | - |
GRCh38 GRCh37 |
44 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986967.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024