ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p22.2(chr6:26178542-26670193)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 | |
H1-3 | - | - |
GRCh38 GRCh37 |
51 | 65 | |
H2AC7 | - | - |
GRCh38 GRCh37 |
- | 27 | |
H2AC8 | - | - |
GRCh38 GRCh37 |
3 | 17 |
There are 18 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 16, 2018 | RCV000682657.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022