ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)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 | |||
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 | |
CD200R1 | - | - |
GRCh38 GRCh37 |
21 | 52 | |
CD200R1L | - | - | - |
GRCh38 GRCh37 |
18 | 55 |
CFAP44 | - | - |
GRCh38 GRCh37 |
- | 166 | |
DRD3 | - | - |
GRCh38 GRCh37 |
51 | 85 |
There are 14 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) |
|
Jan 1, 2019 | RCV000856645.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024