ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)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 | 645 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
23 | 83 | |
C6orf201 | - | - | - |
GRCh38 GRCh37 |
2 | 64 |
CDYL | - | - |
GRCh38 GRCh37 |
21 | 70 | |
CDYL-AS1 | - | - | - | GRCh38 | - | 28 |
DUSP22 | - | - |
GRCh38 GRCh37 |
28 | 175 | |
ECI2 | - | - |
GRCh38 GRCh37 |
8 | 68 | |
ECI2-DT | - | - | - | GRCh38 | - | 28 |
EXOC2 | - | - |
GRCh38 GRCh37 |
42 | 157 | |
F13A1 | - | - |
GRCh38 GRCh37 |
218 | 258 |
There are 337 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) |
|
Mar 18, 2014 | RCV000142299.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023