ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)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 |
8 | 38 | |
ATP6V1A | - | - |
GRCh38 GRCh37 |
283 | 314 | |
BOC | - | - |
GRCh38 GRCh37 |
78 | 107 | |
BTLA | - | - |
GRCh38 GRCh37 |
6 | 35 | |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
29 | 79 |
CCDC80 | - | - |
GRCh38 GRCh37 |
63 | 94 | |
CD200 | - | - |
GRCh38 GRCh37 |
10 | 33 | |
CD200R1 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
CD200R1L | - | - | - |
GRCh38 GRCh37 |
15 | 52 |
CD200R1L-AS1 | - | - | - | GRCh38 | - | 22 |
There are 118 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050766.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024