ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)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 | |||
ATG3 | - | - |
GRCh38 GRCh37 |
11 | 41 | |
ATP6V1A | - | - |
GRCh38 GRCh37 |
285 | 316 | |
BOC | - | - |
GRCh38 GRCh37 |
96 | 125 | |
BTLA | - | - |
GRCh38 GRCh37 |
6 | 35 | |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
35 | 89 |
CCDC80 | - | - |
GRCh38 GRCh37 |
72 | 103 | |
CD200 | - | - |
GRCh38 GRCh37 |
11 | 34 | |
CD200R1 | - | - |
GRCh38 GRCh37 |
21 | 52 | |
CD200R1L | - | - | - |
GRCh38 GRCh37 |
18 | 55 |
CFAP44 | - | - |
GRCh38 GRCh37 |
- | 166 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 25, 2017 | RCV000682296.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022