ClinVar Genomic variation as it relates to human health
NC_012920.1:m.5794_14876del9083
Germline
Classification
(1)
Likely 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 | |||
MT-ATP6 | - | - | GRCh38 | 265 | 310 | |
MT-ATP8 | - | - | GRCh38 | 62 | 103 | |
MT-CO1 | - | - | GRCh38 | 216 | 227 | |
MT-CO2 | - | - | GRCh38 | 121 | 128 | |
MT-CO3 | - | - | GRCh38 | 163 | 178 | |
MT-CYB | - | - | GRCh38 | 319 | 326 | |
MT-ND3 | - | - | GRCh38 | 44 | 59 | |
MT-ND4 | - | - | GRCh38 | 131 | 150 | |
MT-ND4L | - | - | GRCh38 | 30 | 45 | |
MT-ND5 | - | - | GRCh38 | 307 | 324 |
There are 12 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 4, 2014 | RCV000191152.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024