ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)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 | |||
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
177 | 210 | |
ATXN1 | - | - |
GRCh38 GRCh37 |
86 | 144 | |
CAP2 | - | - |
GRCh38 GRCh37 |
28 | 55 | |
CD83 | - | - |
GRCh38 GRCh37 |
12 | 41 | |
CDKAL1 | - | - |
GRCh38 GRCh37 |
40 | 62 | |
DEK | - | - |
GRCh38 GRCh37 |
17 | 34 | |
DTNBP1 | - | - |
GRCh38 GRCh37 |
272 | 315 | |
E2F3 | - | - |
GRCh38 GRCh37 |
12 | 27 | |
FAM8A1 | - | - |
GRCh38 GRCh37 |
14 | 38 | |
GMPR | - | - |
GRCh38 GRCh37 |
25 | 48 |
There are 13 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 28, 2018 | RCV000848884.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022