ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)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 | |||
MED13L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1271 | 1292 | |
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
8874 | 9087 | |
AACS | - | - |
GRCh38 GRCh37 |
47 | 72 | |
ABCB9 | - | - |
GRCh38 GRCh37 |
39 | 62 | |
ACADS | - | - |
GRCh38 GRCh37 |
434 | 454 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
34 | 59 | |
ADGRD1-AS1 | - | - | - | GRCh38 | - | 11 |
ANAPC5 | - | - |
GRCh38 GRCh37 |
15 | 38 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
216 | 253 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
28 | 51 |
There are 884 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053689.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023