ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3
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 | |||
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
29 | 46 | |
CFAP70 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
DNAJC9 | - | - |
GRCh38 GRCh37 |
3 | 56 | |
ECD | - | - |
GRCh38 GRCh37 |
32 | 49 | |
FAM149B1 | - | - |
GRCh38 GRCh37 |
36 | 86 | |
MCU | - | - |
GRCh38 GRCh37 |
10 | 33 | |
MRPS16 | - | - |
GRCh38 GRCh37 |
3 | 106 | |
OIT3 | - | - |
GRCh38 GRCh37 |
45 | 63 | |
P4HA1 | - | - |
GRCh38 GRCh37 |
35 | 53 | |
PLA2G12B | - | - |
GRCh38 GRCh37 |
9 | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986877.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024