ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
UPF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 103 | |
CDC123 | - | - |
GRCh38 GRCh37 |
18 | 45 | |
DHTKD1 | - | - |
GRCh38 GRCh37 |
838 | 893 | |
ECHDC3 | - | - | - |
GRCh38 GRCh37 |
13 | 49 |
NUDT5 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
PROSER2 | - | - | - |
GRCh38 GRCh37 |
1 | 95 |
SEC61A2 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
USP6NL | - | - |
GRCh38 GRCh37 |
63 | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 20, 2017 | RCV000847381.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022