ClinVar Genomic variation as it relates to human health
NC_000018.9:g.(?_55225777)_(56940458_?)dup
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 | |||
ALPK2 | - | - |
GRCh38 GRCh37 |
1924 | 2976 | |
ATP8B1 | - | - |
GRCh38 GRCh37 |
540 | 1127 | |
ATP8B1-AS1 | - | - | - | GRCh38 | - | 519 |
FECH | - | - |
GRCh38 GRCh37 |
315 | 412 | |
GRP | - | - |
GRCh38 GRCh37 |
5 | 79 | |
LINC01897 | - | - | - | GRCh38 | - | 29 |
LINC01926 | - | - | - | GRCh38 | - | 29 |
LINC03110 | - | - | - | GRCh38 | - | 30 |
LOC105372143 | - | - | - | GRCh38 | - | 29 |
LOC105372145 | - | - | - | GRCh38 | - | 30 |
There are 79 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 24, 2018 | RCV000821281.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024