ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1
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 | |||
BMP2 | - | - |
GRCh38 GRCh37 |
169 | 199 | |
CASC20 | - | - | - | GRCh38 | - | 13 |
HAO1 | - | - |
GRCh38 GRCh37 |
27 | 79 | |
LINC01428 | - | - | - | GRCh38 | - | 16 |
LINC01706 | - | - | - | GRCh38 | - | 17 |
LINC01713 | - | - | - | GRCh38 | - | 14 |
LINC01751 | - | - | - | GRCh38 | - | 16 |
LOC108178991 | - | - | - | GRCh38 | - | 16 |
LOC109363676 | - | - | - | GRCh38 | - | 14 |
LOC111365189 | - | - | - | GRCh38 | - | 16 |
There are 22 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050903.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023