ClinVar Genomic variation as it relates to human health
NC_000005.10:g.160592205_161364688dup
Germline
Classification
(1)
Uncertain significance
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 | |||
ATP10B | - | - |
GRCh38 GRCh37 |
110 | 144 | |
GABRB2 | - | - |
GRCh38 GRCh37 |
524 | 555 | |
LINC02159 | - | - | - | GRCh38 | - | 7 |
LOC126807574 | - | - | - | GRCh38 | - | 17 |
LOC126807575 | - | - | - | GRCh38 | - | 7 |
LOC129995193 | - | - | - | GRCh38 | - | 7 |
LOC129995194 | - | - | - | GRCh38 | - | 7 |
LOC129995195 | - | - | - | GRCh38 | - | 7 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 1, 2018 | RCV000754419.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023