ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)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 | |||
DSP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4313 | 4513 | |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 51 | |
BLOC1S5-TXNDC5 | - | - | - | GRCh38 | - | 62 |
BMP6 | - | - |
GRCh38 GRCh37 |
60 | 97 | |
CAGE1 | - | - |
GRCh38 GRCh37 |
26 | 77 | |
CDYL | - | - |
GRCh38 GRCh37 |
21 | 70 | |
CDYL-AS1 | - | - | - | GRCh38 | - | 28 |
DSP-AS1 | - | - | - | GRCh38 | - | 172 |
EEF1E1 | - | - |
GRCh38 GRCh37 |
- | 35 | |
EEF1E1-BLOC1S5 | - | - | - | GRCh38 | - | 32 |
There are 151 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052177.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023