ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)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 | |||
DSP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4726 | 4939 | |
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
42 | 82 | |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 58 | |
BMP6 | - | - |
GRCh38 GRCh37 |
72 | 106 | |
C6orf52 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 40 |
CAGE1 | - | - |
GRCh38 GRCh37 |
44 | 90 | |
EEF1E1 | - | - |
GRCh38 GRCh37 |
- | 32 | |
ELOVL2 | - | - |
GRCh38 GRCh37 |
22 | 51 | |
ERVFRD-1 | - | - |
GRCh38 GRCh37 |
- | 46 | |
GCM2 | - | - |
GRCh38 GRCh37 |
180 | 214 |
There are 15 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) |
|
Jul 31, 2017 | RCV000682643.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023