ClinVar Genomic variation as it relates to human health
NC_000018.9:g.(?_55217944)_(58040587_?)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 |
1795 | 2778 |
ATP8B1 | - | - |
GRCh38 GRCh37 |
512 | 1083 | |
CCBE1 | - | - |
GRCh38 GRCh37 |
508 | 581 | |
CPLX4 | - | - |
GRCh38 GRCh37 |
3 | 75 | |
FECH | - | - |
GRCh38 GRCh37 |
306 | 403 | |
GRP | - | - |
GRCh38 GRCh37 |
5 | 79 | |
LMAN1 | - | - |
GRCh38 GRCh37 |
152 | 237 | |
MALT1 | - | - |
GRCh38 GRCh37 |
351 | 468 | |
MC4R | - | - |
GRCh38 GRCh37 |
169 | 243 | |
MIR122 | - | - |
GRCh38 GRCh37 |
- | 72 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 6, 2021 | RCV001922994.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022