ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1
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 | |||
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 106 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
571 | 708 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 140 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 146 | |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 125 | |
BIN3 | - | - |
GRCh38 GRCh37 |
27 | 122 | |
BMP1 | - | - |
GRCh38 GRCh37 |
720 | 1011 | |
BNIP3L | - | - |
GRCh38 GRCh37 |
6 | 89 | |
C8orf58 | - | - | - |
GRCh38 GRCh37 |
8 | 94 |
CCAR2 | - | - |
GRCh38 GRCh37 |
93 | 186 |
There are 38 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) |
|
Feb 1, 2023 | RCV003223292.11 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024