ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
ALCAM | - | - |
GRCh38 GRCh37 |
47 | 62 | |
BBX | - | - | - |
GRCh38 GRCh37 |
58 | 76 |
C3orf85 | - | - | - | GRCh38 | - | 11 |
CBLB | - | - |
GRCh38 GRCh37 |
70 | 96 | |
CCDC54 | - | - | - |
GRCh38 GRCh37 |
24 | 42 |
CCDC54-AS1 | - | - | - | GRCh38 | - | 10 |
CD47 | - | - |
GRCh38 GRCh37 |
13 | 31 | |
CIP2A | - | - |
GRCh38 GRCh37 |
56 | 77 | |
DPPA2 | - | - |
GRCh38 GRCh37 |
23 | 41 |
There are 81 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) |
|
Aug 12, 2011 | RCV000050910.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024