ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p21.31(chr3:46726614-46968315)x1
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 | |||
MYL3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
415 | 426 | |
CCDC12 | - | - | - |
GRCh38 GRCh37 |
10 | 30 |
LOC112935943 | - | - | - | GRCh38 | - | 2 |
LOC121009666 | - | - | - | GRCh38 | - | 2 |
LOC122889081 | - | - | - | GRCh38 | - | 2 |
LOC129936648 | - | - | - | GRCh38 | - | 2 |
LOC129936649 | - | - | - | GRCh38 | - | 2 |
LOC129936650 | - | - | - | GRCh38 | - | 2 |
LOC129936651 | - | - | - | GRCh38 | - | 2 |
LOC129936652 | - | - | - | GRCh38 | - | 13 |
There are 5 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) |
|
Aug 13, 2012 | RCV000142867.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023