ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1
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 | |||
ABTB3 | - | - | - |
GRCh38 GRCh37 |
77 | 91 |
ACACB | - | - |
GRCh38 GRCh37 |
265 | 294 | |
ACAD10 | - | - |
GRCh38 GRCh37 |
69 | 82 | |
ALDH2 | - | - |
GRCh38 GRCh37 |
27 | 40 | |
ALKBH2 | - | - |
GRCh38 GRCh37 |
14 | 30 | |
ANAPC7 | - | - |
GRCh38 GRCh37 |
13 | 22 | |
ANKRD13A | - | - |
GRCh38 GRCh37 |
25 | 37 | |
APPL2 | - | - |
GRCh38 GRCh37 |
36 | 49 | |
ARPC3 | - | - |
GRCh38 GRCh37 |
2 | 10 | |
ASCL4 | - | - |
GRCh38 GRCh37 |
15 | 26 |
There are 308 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) |
|
Aug 12, 2011 | RCV000050807.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024