ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3
Germline
Classification
(1)
Pathogenic
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 | |||
HNF1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
886 | 972 | |
MED13L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1292 | 1311 | |
TBX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
384 | 483 | |
TBX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
675 | 693 | |
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9004 | 9214 | |
AACS | - | - |
GRCh38 GRCh37 |
54 | 77 | |
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ACADS | - | - |
GRCh38 GRCh37 |
436 | 453 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
ADGRD1-AS1 | - | - | - | GRCh38 | - | 12 |
There are 898 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) |
|
Jul 18, 2014 | RCV000143656.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024