ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)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 | |||
ATP8A2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
452 | 492 | |
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | 619 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 273 | |
AMER2 | - | - |
GRCh38 GRCh37 |
38 | 76 | |
ATP12A | - | - |
GRCh38 GRCh37 |
55 | 110 | |
C1QTNF9 | - | - |
GRCh38 GRCh37 |
25 | 100 | |
C1QTNF9B | - | - |
GRCh38 GRCh37 |
12 | 108 | |
CDK8 | - | - |
GRCh38 GRCh37 |
50 | 93 | |
CENPJ | - | - |
GRCh38 GRCh37 |
422 | 643 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
104 | 198 |
There are 32 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 26, 2018 | RCV000847640.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023