ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)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 | |||
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
42 | 82 | |
ADTRP | - | - |
GRCh38 GRCh37 |
12 | 40 | |
C6orf52 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 40 |
EDN1 | - | - |
GRCh38 GRCh37 |
44 | 72 | |
ELOVL2 | - | - |
GRCh38 GRCh37 |
22 | 51 | |
ELOVL2-AS1 | - | - | - | GRCh38 | - | 15 |
ERVFRD-1 | - | - |
GRCh38 GRCh37 |
- | 46 | |
GCM2 | - | - |
GRCh38 GRCh37 |
180 | 214 | |
GCNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
195 | 236 | |
GFOD1 | - | - |
GRCh38 GRCh37 |
10 | 40 |
There are 146 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
May 30, 2010 | RCV000142410.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024