ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1
Germline
Classification
(1)
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 | |||
PRDM6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
46 | 104 | |
CEP120 | - | - |
GRCh38 GRCh37 |
490 | 517 | |
CSNK1G3 | - | - |
GRCh38 GRCh37 |
23 | 50 | |
FTMT | - | - |
GRCh38 GRCh37 |
18 | 47 | |
LINC01170 | - | - | - | GRCh38 | - | 12 |
LINC02201 | - | - | - | GRCh38 | - | 13 |
LOC101927357 | - | - | - | GRCh38 | - | 13 |
LOC102467226 | - | - | - | GRCh38 | - | 12 |
LOC121079959 | - | - | - | GRCh38 | 1 | 13 |
LOC123497961 | - | - | - | GRCh38 | - | 11 |
There are 47 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051200.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024