ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)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 | |||
GUCA1C | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 41 | |
BBX | - | - | - |
GRCh38 GRCh37 |
52 | 70 |
C3orf85 | - | - | - | GRCh38 | - | 11 |
CCDC54 | - | - | - |
GRCh38 GRCh37 |
23 | 41 |
CCDC54-AS1 | - | - | - | GRCh38 | - | 10 |
CD47 | - | - |
GRCh38 GRCh37 |
12 | 30 | |
CIP2A | - | - |
GRCh38 GRCh37 |
50 | 71 | |
DUBR | - | - | GRCh38 | - | 10 | |
DZIP3 | - | - |
GRCh38 GRCh37 |
58 | 79 | |
HHLA2 | - | - |
GRCh38 GRCh37 |
26 | 47 |
There are 53 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 | RCV000139226.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024