ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q23.1-23.2(chr5:120032407-123896355)x1
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 |
42 | 96 | |
CEP120 | - | - |
GRCh38 GRCh37 |
480 | 507 | |
CSNK1G3 | - | - |
GRCh38 GRCh37 |
19 | 46 | |
FTMT | - | - |
GRCh38 GRCh37 |
17 | 46 | |
LOX | - | - |
GRCh38 GRCh37 |
3 | 499 | |
PPIC | - | - |
GRCh38 GRCh37 |
2 | 39 | |
SNCAIP | - | - |
GRCh38 GRCh37 |
72 | 172 | |
SNX2 | - | - |
GRCh38 GRCh37 |
18 | 49 | |
SNX24 | - | - | - |
GRCh38 GRCh37 |
8 | 47 |
SRFBP1 | - | - |
GRCh38 GRCh37 |
26 | 522 |
There is 1 more gene 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 22, 2014 | RCV000510166.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024