ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | 467 | |
CHAMP1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
207 | 328 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
86 | 369 | |
GPC5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 159 | |
ABCC4 | - | - |
GRCh38 GRCh37 |
61 | 152 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
16 | 134 |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
45 | 167 | |
ANKRD10 | - | - | - |
GRCh38 GRCh37 |
15 | 128 |
ANKRD10-IT1 | - | - | - | GRCh37 | - | 109 |
There are 113 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) |
|
Jan 4, 2023 | RCV003484901.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024