ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q23.3(chr6:135249940-136439720)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 | |||
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 85 | |
AHI1 | - | - |
GRCh38 GRCh37 |
1535 | 1563 | |
AHI1-DT | - | - | - | GRCh38 | - | 6 |
LINC02524 | - | - | - | GRCh38 | - | 6 |
LOC101928373 | - | - | - | GRCh38 | - | 5 |
LOC110121073 | - | - | - | GRCh38 | - | 4 |
LOC123864074 | - | - | - | GRCh38 | - | 4 |
LOC123864075 | - | - | - | GRCh38 | - | 4 |
LOC123864076 | - | - | - | GRCh38 | - | 5 |
LOC126859799 | - | - | - | GRCh38 | - | 4 |
There are 23 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052200.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023