ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)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 | |||
BAG2 | - | - |
GRCh38 GRCh37 |
4 | 53 | |
BEND6 | - | - | - |
GRCh38 GRCh37 |
12 | 22 |
BMP5 | - | - |
GRCh38 GRCh37 |
37 | 50 | |
CILK1 | - | - |
GRCh38 GRCh37 |
183 | 195 | |
COL21A1 | - | - |
GRCh38 GRCh37 |
40 | 54 | |
DST | - | - | GRCh38 | 3724 | 3806 | |
DST-AS1 | - | - | - | GRCh38 | - | 18 |
EFHC1 | - | - |
GRCh38 GRCh37 |
439 | 456 | |
ELOVL5 | - | - |
GRCh38 GRCh37 |
114 | 127 | |
FAM83B | - | - | - |
GRCh38 GRCh37 |
44 | 56 |
There are 163 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) |
|
Dec 22, 2010 | RCV000134922.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023