ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3
Germline
Classification
(1)
Uncertain significance
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 |
8 | 38 | |
BTLA | - | - |
GRCh38 GRCh37 |
6 | 35 | |
CCDC80 | - | - |
GRCh38 GRCh37 |
63 | 94 | |
CD200 | - | - |
GRCh38 GRCh37 |
10 | 33 | |
CD200R1 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
CD200R1L | - | - | - |
GRCh38 GRCh37 |
15 | 52 |
GTPBP8 | - | - | - |
GRCh38 GRCh37 |
9 | 41 |
NEPRO | - | - |
GRCh38 GRCh37 |
17 | 51 | |
SLC35A5 | - | - | - |
GRCh38 GRCh37 |
25 | 55 |
SLC9C1 | - | - |
GRCh38 GRCh38 GRCh37 |
61 | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 26, 2018 | RCV000847080.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022