ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)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 |
4314 | 4511 | |
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 648 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
13 | 70 | |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 49 | |
BLOC1S5-TXNDC5 | - | - | - | GRCh38 | - | 63 |
BMP6 | - | - |
GRCh38 GRCh37 |
59 | 93 | |
C6orf201 | - | - | - |
GRCh38 GRCh37 |
2 | 62 |
CAGE1 | - | - |
GRCh38 GRCh37 |
26 | 72 | |
CDYL | - | - |
GRCh38 GRCh37 |
21 | 67 | |
CDYL-AS1 | - | - | - | GRCh38 | - | 28 |
There are 427 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) |
|
Dec 22, 2010 | RCV000136567.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023