ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)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 |
53 | 98 | |
ADAMTS9 | - | - |
GRCh38 GRCh37 |
247 | 323 | |
ATXN7 | - | - |
GRCh38 GRCh37 |
70 | 109 | |
C3orf14 | - | - | - |
GRCh38 GRCh37 |
- | 6 |
CADPS | - | - |
GRCh38 GRCh37 |
84 | 99 | |
FEZF2 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
MAGI1 | - | - |
GRCh38 GRCh38 GRCh37 |
65 | 86 | |
PRICKLE2 | - | - |
GRCh38 GRCh37 |
291 | 587 | |
PSMD6 | - | - |
GRCh38 GRCh37 |
8 | 22 | |
PTPRG | - | - |
GRCh38 GRCh37 |
61 | 110 |
There are 3 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) |
|
Apr 5, 2019 | RCV001005439.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022