ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3
Germline
Classification
(1)
Pathogenic
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 | |
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9003 | 9213 | |
AACS | - | - |
GRCh38 GRCh37 |
54 | 77 | |
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ACADS | - | - |
GRCh38 GRCh37 |
436 | 453 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
ADGRD1-AS1 | - | - | - | GRCh38 | - | 12 |
ANAPC5 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
238 | 271 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
38 | 57 |
There are 778 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050866.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024