ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3
Germline
Classification
(1)
Pathogenic
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 | |||
DSP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4313 | 4513 | |
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 645 | |
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
26 | 67 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
23 | 83 | |
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
153 | 188 | |
ADTRP | - | - |
GRCh38 GRCh37 |
5 | 36 | |
ATXN1 | - | - |
GRCh38 GRCh37 |
83 | 141 | |
ATXN1-AS1 | - | - | - | GRCh38 | - | 7 |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 51 | |
BLOC1S5-TXNDC5 | - | - | - | GRCh38 | - | 62 |
There are 769 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) |
|
Apr 30, 2011 | RCV000140307.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023