ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)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 | |||
PDE4D | No evidence available | No evidence available |
GRCh38 GRCh37 |
521 | 547 | |
C5orf64 | - | - | - |
GRCh38 GRCh37 |
- | 3 |
DEPDC1B | - | - |
GRCh38 GRCh37 |
37 | 57 | |
DIMT1 | - | - |
GRCh38 GRCh37 |
12 | 31 | |
ELOVL7 | - | - |
GRCh38 GRCh37 |
17 | 47 | |
ERCC8 | - | - |
GRCh38 GRCh37 |
482 | 595 | |
HTR1A | - | - |
GRCh38 GRCh37 |
37 | 50 | |
IPO11 | - | - |
GRCh38 GRCh37 |
44 | 109 | |
KIF2A | - | - |
GRCh38 GRCh37 |
488 | 542 | |
LRRC70 | - | - | - |
GRCh38 GRCh37 |
- | 58 |
There are 4 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) |
|
- | RCV002285073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 01, 2022