ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)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 | |||
RUNX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
404 | 538 | |
PPP2R5D | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
449 | 503 | |
VEGFA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 69 | |
AARS2 | - | - |
GRCh38 GRCh37 |
2 | 577 | |
ABCC10 | - | - |
GRCh38 GRCh37 |
94 | 121 | |
APOBEC2 | - | - |
GRCh38 GRCh37 |
15 | 21 | |
BICRAL | - | - |
GRCh38 GRCh37 |
61 | 72 | |
BTBD9 | - | - |
GRCh38 GRCh37 |
39 | 50 | |
BTBD9-AS1 | - | - | - | GRCh38 | - | 3 |
BYSL | - | - |
GRCh38 GRCh37 |
24 | 51 |
There are 427 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) |
|
Aug 12, 2011 | RCV000052181.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023