ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1
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 | |
AACS | - | - |
GRCh38 GRCh37 |
54 | 77 | |
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ACADS | - | - |
GRCh38 GRCh37 |
436 | 453 | |
ANAPC5 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
38 | 57 | |
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
597 | 699 | |
B3GNT4 | - | - |
GRCh38 GRCh37 |
27 | 81 | |
BCL7A | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 33 | |
BRI3BP | - | - |
GRCh38 GRCh37 |
15 | 39 |
There are 408 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 19, 2010 | RCV000142454.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024