ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p12.1(chr6:54730810-56217129)x1
Germline
Classification
(1)
Likely benign
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 | |||
BMP5 | - | - |
GRCh38 GRCh37 |
46 | 59 | |
COL21A1 | - | - |
GRCh38 GRCh37 |
58 | 72 | |
FAM83B | - | - | - |
GRCh38 GRCh37 |
67 | 79 |
GFRAL | - | - |
GRCh38 GRCh37 |
28 | 41 | |
HCRTR2 | - | - |
GRCh38 GRCh37 |
32 | 46 | |
HMGCLL1 | - | - |
GRCh38 GRCh37 |
29 | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Oct 21, 2014 | RCV000510611.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024