ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3
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 | |||
PHF3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
105 | 653 | |
BAG2 | - | - |
GRCh38 GRCh37 |
4 | 56 | |
BEND6 | - | - | - |
GRCh38 GRCh37 |
13 | 26 |
BMP5 | - | - |
GRCh38 GRCh37 |
37 | 53 | |
COL21A1 | - | - |
GRCh38 GRCh37 |
41 | 58 | |
DST | - | - | GRCh38 | 3719 | 3801 | |
DST-AS1 | - | - | - | GRCh38 | - | 18 |
ERVH-3 | - | - | - | GRCh37 | 4 | 16 |
EYS | - | - |
GRCh38 GRCh37 |
4130 | 4687 | |
FAM83B | - | - | - |
GRCh38 GRCh37 |
44 | 59 |
There are 139 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000137097.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023