ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1
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 | |||
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 648 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
13 | 71 | |
C6orf201 | - | - | - |
GRCh38 GRCh37 |
2 | 63 |
CDYL | - | - |
GRCh38 GRCh37 |
21 | 68 | |
CDYL-AS1 | - | - | - | GRCh38 | - | 29 |
DUSP22 | - | - |
GRCh38 GRCh37 |
25 | 171 | |
ECI2 | - | - |
GRCh38 GRCh37 |
8 | 67 | |
ECI2-DT | - | - | - | GRCh38 | - | 29 |
EXOC2 | - | - |
GRCh38 GRCh37 |
37 | 150 | |
FAM217A | - | - | - |
GRCh38 GRCh37 |
29 | 76 |
There are 279 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) |
|
May 12, 2011 | RCV000137496.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023