ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)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 | |||
AACS | - | - |
GRCh38 GRCh37 |
57 | 80 | |
ABCB9 | - | - |
GRCh38 GRCh37 |
64 | 84 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
602 | 706 | |
B3GNT4 | - | - |
GRCh38 GRCh37 |
34 | 91 | |
BCL7A | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 38 | |
BRI3BP | - | - |
GRCh38 GRCh37 |
16 | 41 | |
CCDC62 | - | - |
GRCh38 GRCh37 |
52 | 73 | |
CCDC92 | - | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 49 |
CDK2AP1 | - | - |
GRCh38 GRCh37 |
6 | 37 |
There are 322 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Dec 17, 2012 | RCV000143250.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024