ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_116937787)_(117252669_?)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 | |||
FAM162B | - | - | - |
GRCh38 GRCh37 |
18 | 48 |
GPRC6A | - | - |
GRCh38 GRCh37 |
62 | 93 | |
KPNA5 | - | - |
GRCh38 GRCh37 |
13 | 45 | |
RFX6 | - | - |
GRCh38 GRCh37 |
212 | 301 | |
RSPH4A | - | - |
GRCh38 GRCh37 |
320 | 379 | |
ZUP1 | - | - |
GRCh38 GRCh37 |
25 | 58 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 2, 2021 | RCV001916201.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024