ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3
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 |
4694 | 4907 | |
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
516 | 653 | |
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
39 | 78 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
18 | 78 | |
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
177 | 210 | |
ADTRP | - | - |
GRCh38 GRCh37 |
11 | 39 | |
ATXN1 | - | - |
GRCh38 GRCh37 |
86 | 144 | |
ATXN1-AS1 | - | - | - | GRCh38 | - | 7 |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 54 | |
BLOC1S5-TXNDC5 | - | - | - | GRCh38 | - | 76 |
There are 815 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 | RCV000051869.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024