ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)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 | |||
BMP2 | - | - |
GRCh38 GRCh37 |
178 | 209 | |
CASC20 | - | - | - | GRCh38 | - | 13 |
CDS2 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
CHGB | - | - |
GRCh38 GRCh37 |
40 | 87 | |
CRLS1 | - | - |
GRCh38 GRCh37 |
25 | 56 | |
FERMT1 | - | - |
GRCh38 GRCh37 |
532 | 568 | |
GPCPD1 | - | - |
GRCh38 GRCh37 |
27 | 61 | |
LINC00654 | - | - | - | GRCh38 | - | 16 |
LINC00658 | - | - | - | GRCh38 | - | 17 |
LINC01713 | - | - | - | GRCh38 | - | 14 |
There are 93 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 13, 2012 | RCV000137695.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024