ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)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 | |||
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
506 | 588 | |
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3622 | 3781 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
87 | 372 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 98 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
62 | 150 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
111 | 169 | |
ALG11 | - | - |
GRCh38 GRCh37 |
77 | 281 | |
ALG5 | - | - |
GRCh38 GRCh37 |
28 | 82 | |
ARL11 | - | - |
GRCh38 GRCh37 |
17 | 86 |
There are 930 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 17, 2012 | RCV000138339.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024