ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3
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 | |||
ANAPC5 | - | - |
GRCh38 GRCh37 |
21 | 43 | |
C12orf43 | - | - | - |
GRCh38 GRCh37 |
4 | 92 |
CAMKK2 | - | - |
GRCh38 GRCh37 |
37 | 57 | |
KDM2B | - | - |
GRCh38 GRCh37 |
122 | 172 | |
MORN3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 49 |
OASL | - | - |
GRCh38 GRCh37 |
29 | 48 | |
ORAI1 | - | - |
GRCh38 GRCh38 GRCh37 |
194 | 402 | |
P2RX4 | - | - |
GRCh38 GRCh37 |
27 | 52 | |
P2RX7 | - | - |
GRCh38 GRCh37 |
47 | 67 | |
RNF34 | - | - |
GRCh38 GRCh37 |
- | 36 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000447978.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024