ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_32232938)_(34157463_?)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 | |||
BPIFC | - | - |
GRCh38 GRCh37 |
23 | 43 | |
C22orf42 | - | - | - |
GRCh38 GRCh37 |
2 | 23 |
DEPDC5 | - | - |
GRCh38 GRCh37 |
2332 | 2363 | |
FBXO7 | - | - |
GRCh38 GRCh37 |
415 | 434 | |
LARGE1 | - | - |
GRCh38 GRCh37 |
997 | 1027 | |
RFPL2 | - | - |
GRCh38 GRCh37 |
33 | 55 | |
RFPL3 | - | - |
GRCh38 GRCh37 |
12 | 54 | |
RFPL3S | - | - |
GRCh38 GRCh37 |
- | 42 | |
RTCB | - | - |
GRCh38 GRCh37 |
27 | 47 | |
SLC5A1 | - | - |
GRCh38 GRCh37 |
428 | 449 |
There are 5 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) |
|
Jan 5, 2022 | RCV001920547.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024