ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 210 | |
CNIH3 | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
CNIH3-AS1 | - | - | - | GRCh38 | - | 15 |
CNIH3-AS2 | - | - | - | GRCh38 | - | 14 |
CNIH4 | - | - |
GRCh38 GRCh37 |
5 | 47 | |
DEGS1 | - | - |
GRCh38 GRCh37 |
73 | 114 | |
FBXO28 | - | - |
GRCh38 GRCh37 |
29 | 75 | |
LOC101927143 | - | - | - | GRCh38 | - | 16 |
LOC101927164 | - | - | - | GRCh38 | - | 18 |
LOC112577543 | - | - | - | GRCh38 | - | 16 |
There are 35 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050819.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024