ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)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 | |||
JAG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1805 | 1848 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
BMP2 | - | - |
GRCh38 GRCh37 |
177 | 208 | |
BTBD3 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
BTBD3-AS1 | - | - | - | GRCh38 | - | 20 |
HAO1 | - | - |
GRCh38 GRCh37 |
37 | 90 | |
ISM1 | - | - |
GRCh38 GRCh37 |
2 | 82 | |
ISM1-AS1 | - | - | - | GRCh38 | - | 15 |
LAMP5 | - | - |
GRCh38 GRCh37 |
17 | 50 | |
LAMP5-AS1 | - | - | - | GRCh38 | - | 13 |
There are 101 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) |
|
Nov 30, 2010 | RCV000135292.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023