ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1
Germline
Classification
(1)
Likely 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 | |||
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
239 | 289 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 746 | |
BCL6 | - | - |
GRCh38 GRCh37 |
4 | 79 | |
BCL6-AS1 | - | - | - | GRCh38 | - | 15 |
CCDC50 | - | - |
GRCh38 GRCh37 |
209 | 281 | |
CLDN1 | - | - |
GRCh38 GRCh37 |
1 | 126 | |
CLDN16 | - | - |
GRCh38 GRCh37 |
212 | 339 | |
FLJ42393 | - | - | - | GRCh38 | - | 21 |
GMNC | - | - |
GRCh38 GRCh37 |
21 | 63 | |
IL1RAP | - | - |
GRCh38 GRCh37 |
22 | 63 |
There are 89 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 18, 2013 | RCV000143464.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024