ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1
Germline
Classification
(1)
Likely 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 | |||
COPS4 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
ENOPH1 | - | - | - |
GRCh38 GRCh37 |
6 | 49 |
HNRNPD | - | - |
GRCh38 GRCh37 |
22 | 70 | |
HNRNPDL | - | - |
GRCh38 GRCh37 |
392 | 434 | |
LIN54 | - | - |
GRCh38 GRCh37 |
25 | 63 | |
PLAC8 | - | - |
GRCh38 GRCh37 |
5 | 43 | |
RASGEF1B | - | - |
GRCh38 GRCh37 |
33 | 68 | |
SCD5 | - | - |
GRCh38 GRCh37 |
23 | 66 | |
SEC31A | - | - |
GRCh38 GRCh37 |
92 | 131 | |
THAP9 | - | - |
GRCh38 GRCh37 |
55 | 93 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jun 22, 2015 | RCV000511583.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024