ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)
Germline
Classification
(1)
Likely 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 | |||
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
42 | 82 | |
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
190 | 223 | |
ADTRP | - | - |
GRCh38 GRCh37 |
12 | 40 | |
ATXN1 | - | - |
GRCh38 GRCh37 |
93 | 151 | |
C6orf52 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 40 |
CAP2 | - | - |
GRCh38 GRCh37 |
31 | 58 | |
CD83 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
DTNBP1 | - | - |
GRCh38 GRCh37 |
273 | 317 | |
EDN1 | - | - |
GRCh38 GRCh37 |
44 | 72 | |
ELOVL2 | - | - |
GRCh38 GRCh37 |
22 | 51 |
There are 27 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053552.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023