ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)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 | |||
ZIC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
323 | 466 | |
CHAMP1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
202 | 322 | |
GPC5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 159 | |
ABCC4 | - | - |
GRCh38 GRCh37 |
61 | 152 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
16 | 133 |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
45 | 166 | |
ANKRD10 | - | - | - |
GRCh38 GRCh37 |
15 | 127 |
ANKRD10-IT1 | - | - | - | GRCh37 | - | 108 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
10 | 120 | |
ARGLU1-DT | - | - | - | GRCh38 | - | 41 |
There are 630 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) |
|
Dec 22, 2010 | RCV000137102.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024