ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)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 | |||
ABRAXAS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
651 | 817 | |
ANTXR2 | - | - |
GRCh38 GRCh37 |
265 | 306 | |
ANXA3 | - | - |
GRCh38 GRCh37 |
28 | 49 | |
BMP2K | - | - |
GRCh38 GRCh37 |
40 | 68 | |
BMP3 | - | - |
GRCh38 GRCh37 |
35 | 67 | |
CFAP299 | - | - | - |
GRCh38 GRCh37 |
7 | 44 |
COPS4 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
COQ2 | - | - |
GRCh38 GRCh37 |
225 | 405 | |
ENOPH1 | - | - | - |
GRCh38 GRCh37 |
6 | 49 |
FGF5 | - | - |
GRCh38 GRCh37 |
29 | 59 |
There are 21 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) |
|
Oct 31, 2017 | RCV000846933.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022