ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)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 | |||
ROBO1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
444 | 457 | |
C3orf38 | - | - | - |
GRCh38 GRCh37 |
2 | 14 |
CADM2 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 49 | |
CADM2-AS1 | - | - | - | GRCh38 | - | 6 |
CADM2-AS2 | - | - | - | GRCh38 | - | 6 |
CGGBP1 | - | - |
GRCh38 GRCh37 |
1 | 37 | |
CHMP2B | - | - |
GRCh38 GRCh37 |
146 | 176 | |
CSNKA2IP | - | - | - | GRCh38 | 2 | 8 |
EPHA3 | - | - |
GRCh38 GRCh37 |
51 | 61 | |
FRG2C | - | - | - |
GRCh38 GRCh37 |
8 | 26 |
There are 110 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 22, 2013 | RCV000143665.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024