ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.31(chr12:122938957-123747037)
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 | |||
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
38 | 57 | |
CCDC62 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
CDK2AP1 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
DENR | - | - |
GRCh38 GRCh37 |
13 | 33 | |
HCAR1 | - | - |
GRCh38 GRCh37 |
32 | 52 | |
HCAR2 | - | - |
GRCh38 GRCh37 |
24 | 47 | |
HCAR3 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
HIP1R | - | - |
GRCh38 GRCh37 |
82 | 105 | |
KNTC1 | - | - |
GRCh38 GRCh37 |
87 | 109 |
There are 7 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) |
|
Mar 1, 2022 | RCV002053031.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022