ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)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 | |||
ABT1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 29 | |
BTN1A1 | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 34 | |
BTN2A1 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 56 | |
BTN2A2 | - | - |
GRCh38 GRCh37 |
60 | 72 | |
BTN3A1 | - | - |
GRCh38 GRCh37 |
26 | 38 | |
BTN3A2 | - | - |
GRCh38 GRCh37 |
20 | 33 | |
BTN3A3 | - | - |
GRCh38 GRCh37 |
41 | 53 | |
GPX5 | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 22 | |
GPX6 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 17 | |
H1-5 | - | - |
GRCh38 GRCh37 |
18 | 31 |
There are 336 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 27, 2010 | RCV000133692.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024