ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1
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 |
329 | 473 | |
ABCC4 | - | - |
GRCh38 GRCh37 |
72 | 164 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
22 | 140 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
13 | 124 | |
ARGLU1-DT | - | - | - | GRCh38 | - | 41 |
BIVM | - | - |
GRCh38 GRCh37 |
- | 112 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 534 |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
481 | 582 |
CLDN10 | - | - |
GRCh38 GRCh37 |
37 | 126 | |
CLDN10-AS1 | - | - | - | GRCh38 | - | 26 |
There are 340 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) |
|
Dec 22, 2010 | RCV000136688.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024