ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)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 | |||
FHIT | No evidence available | No evidence available |
GRCh38 GRCh37 |
34 | 76 | |
FLNB | No evidence available | No evidence available |
GRCh38 GRCh37 |
1897 | 2109 | |
ABHD6 | - | - |
GRCh38 GRCh37 |
11 | 23 | |
ACOX2 | - | - |
GRCh38 GRCh37 |
196 | 215 | |
ADAMTS9 | - | - |
GRCh38 GRCh37 |
246 | 321 | |
ADAMTS9-AS1 | - | - | - | GRCh38 | - | 19 |
ADAMTS9-AS2 | - | - | - | GRCh38 | 1 | 25 |
ARF4 | - | - |
GRCh38 GRCh37 |
- | 10 | |
ARF4-AS1 | - | - | - | GRCh38 | - | 3 |
ATXN7 | - | - |
GRCh38 GRCh37 |
71 | 109 |
There are 146 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) |
|
Sep 21, 2012 | RCV000139570.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023