ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)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 | |||
HNF1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
875 | 961 | |
ACADS | - | - |
GRCh38 GRCh37 |
436 | 453 | |
ANAPC5 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
B3GNT4 | - | - |
GRCh38 GRCh37 |
27 | 81 | |
BCL7A | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 33 | |
BICDL1 | - | - |
GRCh38 GRCh37 |
2 | 13 | |
C12orf43 | - | - | - |
GRCh38 GRCh37 |
4 | 89 |
CABP1 | - | - |
GRCh38 GRCh37 |
6 | 22 | |
CABP1-DT | - | - | - | GRCh38 | - | 6 |
CAMKK2 | - | - |
GRCh38 GRCh37 |
37 | 55 |
There are 256 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051981.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024