ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)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 |
4744 | 4958 | |
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
533 | 674 | |
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
42 | 82 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
19 | 82 | |
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
208 | 241 | |
ADTRP | - | - |
GRCh38 GRCh37 |
12 | 40 | |
ATXN1 | - | - |
GRCh38 GRCh37 |
95 | 153 | |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 58 | |
BMP6 | - | - |
GRCh38 GRCh37 |
73 | 107 | |
C6orf201 | - | - | - |
GRCh38 GRCh37 |
2 | 71 |
There are 87 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240460.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023