ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)
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 | |
TFAP2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
140 | 151 | |
VEGFA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 69 | |
AARS2 | - | - |
GRCh38 GRCh37 |
2 | 577 | |
ADGRF1 | - | - |
GRCh38 GRCh37 |
56 | 64 | |
ADGRF2 | - | - | - |
GRCh38 GRCh37 |
36 | 45 |
ADGRF4 | - | - |
GRCh38 GRCh37 |
49 | 58 | |
ADGRF5 | - | - | - |
GRCh38 GRCh37 |
71 | 79 |
ANKRD66 | - | - | - |
GRCh38 GRCh37 |
18 | 27 |
C6orf141 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
There are 42 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053568.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023