ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3
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 | |||
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
26 | 52 | |
CENPC | - | - |
GRCh38 GRCh37 |
49 | 75 | |
GNRHR | - | - |
GRCh38 GRCh37 |
182 | 210 | |
LOC101927237 | - | - | - | GRCh38 | - | 5 |
LOC110120783 | - | - | - | GRCh38 | - | 5 |
LOC121053183 | - | - | - | GRCh38 | - | 5 |
LOC123477751 | - | - | - | GRCh38 | - | 24 |
LOC123477752 | - | - | - | GRCh38 | - | 5 |
LOC123477753 | - | - | - |
GRCh38 GRCh38 |
- | 8 |
LOC126807068 | - | - | - | GRCh38 | - | 6 |
There are 24 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 | RCV000051038.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024