ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q23.2(chr5:122143334-123430731)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
PRDM6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
36 | 87 | |
CEP120 | - | - |
GRCh38 GRCh37 |
474 | 501 | |
CSNK1G3 | - | - |
GRCh38 GRCh37 |
17 | 44 | |
PPIC | - | - |
GRCh38 GRCh37 |
2 | 36 | |
SNX2 | - | - |
GRCh38 GRCh37 |
12 | 43 | |
SNX24 | - | - | - |
GRCh38 GRCh37 |
7 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 6, 2018 | RCV001005732.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022