ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)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 |
204 | 324 | |
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 | |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
41 | 163 |
There are 90 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) |
|
- | RCV000447429.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024