ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)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 | |||
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 | |
CSN1S1 | - | - |
GRCh38 GRCh37 |
14 | 45 | |
CSN2 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 50 | |
CSN3 | - | - |
GRCh38 GRCh37 |
14 | 44 | |
FDCSP | - | - |
GRCh38 GRCh37 |
8 | 38 | |
GNRHR | - | - |
GRCh38 GRCh37 |
182 | 210 | |
HTN1 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 35 | |
LOC105377267 | - | - | - | GRCh38 | - | 67 |
LOC111589210 | - | - | - | GRCh38 | - | 14 |
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) |
|
Mar 18, 2014 | RCV000142366.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024