ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)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 | |||
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
26 | 52 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
AMBN | - | - |
GRCh38 GRCh37 |
52 | 81 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
CABS1 | - | - |
GRCh38 GRCh37 |
22 | 54 | |
CENPC | - | - |
GRCh38 GRCh37 |
49 | 75 | |
CSN1S1 | - | - |
GRCh38 GRCh37 |
14 | 45 | |
CSN2 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 50 | |
CSN3 | - | - |
GRCh38 GRCh37 |
14 | 44 | |
ENAM | - | - |
GRCh38 GRCh37 |
191 | 218 |
There are 68 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050704.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024