ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)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 | |||
BAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2850 | 2867 | |
FLNB | No evidence available | No evidence available |
GRCh38 GRCh37 |
1928 | 2143 | |
ABHD6 | - | - |
GRCh38 GRCh37 |
19 | 32 | |
ACOX2 | - | - |
GRCh38 GRCh37 |
214 | 234 | |
ACTR8 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
ALAS1 | - | - |
GRCh38 GRCh37 |
37 | 49 | |
APPL1 | - | - |
GRCh38 GRCh37 |
136 | 174 | |
ARF4 | - | - |
GRCh38 GRCh37 |
- | 11 | |
ARHGEF3 | - | - |
GRCh38 GRCh37 |
29 | 49 | |
ASB14 | - | - | - |
GRCh38 GRCh37 |
34 | 77 |
There are 58 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000239886.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022