ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1
Germline
Classification
(1)
Likely 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 |
467 | 507 | |
AMER2 | - | - |
GRCh38 GRCh37 |
43 | 81 | |
ATP12A | - | - |
GRCh38 GRCh37 |
63 | 120 | |
C1QTNF9 | - | - |
GRCh38 GRCh37 |
27 | 102 | |
C1QTNF9B | - | - |
GRCh38 GRCh37 |
14 | 111 | |
CDK8 | - | - |
GRCh38 GRCh37 |
59 | 102 | |
CENPJ | - | - |
GRCh38 GRCh37 |
433 | 659 | |
MIPEP | - | - |
GRCh38 GRCh37 |
200 | 310 | |
MTMR6 | - | - |
GRCh38 GRCh37 |
30 | 66 | |
NUP58 | - | - |
GRCh38 GRCh37 |
31 | 68 |
There are 10 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Mar 26, 2015 | RCV000511657.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024