ClinVar Genomic variation as it relates to human health
NC_012920.1:m.8483_13459del4977
Germline
Classification
(3)
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 | 265 | 310 | |
MT-ATP8 | - | - | GRCh38 | 62 | 103 | |
MT-CO3 | - | - | GRCh38 | 163 | 178 | |
MT-ND3 | - | - | GRCh38 | 44 | 59 | |
MT-ND4 | - | - | GRCh38 | 131 | 150 | |
MT-ND4L | - | - | GRCh38 | 30 | 45 | |
MT-ND5 | - | - | GRCh38 | 307 | 324 | |
MT-TG | - | - | GRCh38 | 30 | 44 | |
MT-TH | - | - | GRCh38 | 40 | 57 | |
MT-TL2 | - | - | GRCh38 | 27 | 43 |
There are 2 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 (2) |
|
May 22, 2017 | RCV000495046.2 | |
not provided (1) |
|
- | RCV000855712.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023