ClinVar Genomic variation as it relates to human health
NC_012920.1:m.8290_13040del4751
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 | |||
MT-ATP6 | - | - | GRCh38 | - | - | |
MT-ATP8 | - | - | GRCh38 | 62 | 103 | |
MT-CO3 | - | - | GRCh38 | 163 | - | |
MT-ND3 | - | - | GRCh38 | 44 | 59 | |
MT-ND4 | - | - | GRCh38 | - | - | |
MT-ND4L | - | - | GRCh38 | 30 | 45 | |
MT-ND5 | - | - | GRCh38 | 307 | 324 | |
MT-TG | - | - | GRCh38 | 30 | 44 | |
MT-TH | - | - | GRCh38 | 40 | 57 | |
MT-TK | - | - | GRCh38 | 36 | 45 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 22, 2017 | RCV000495493.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023