ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.2(chr8:23501519-24907990)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 | |||
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
564 | 701 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 137 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 139 | |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 121 | |
NEFM | - | - |
GRCh38 GRCh37 |
58 | 147 | |
NKX2-6 | - | - |
GRCh38 GRCh37 |
92 | 176 | |
NKX3-1 | - | - |
GRCh38 GRCh37 |
10 | 103 | |
STC1 | - | - |
GRCh38 GRCh37 |
9 | 91 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 28, 2018 | RCV000847303.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022