ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)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 | |||
ACSL1 | - | - |
GRCh38 GRCh37 |
35 | 147 | |
CASP3 | - | - |
GRCh38 GRCh37 |
13 | 125 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
34 | 136 | |
CENPU | - | - |
GRCh38 GRCh37 |
30 | 149 | |
CFAP97 | - | - |
GRCh38 GRCh37 |
44 | 173 | |
CLDN22 | - | - |
GRCh38 GRCh37 |
- | 117 | |
CLDN24 | - | - | - |
GRCh38 GRCh37 |
11 | 111 |
DCTD | - | - |
GRCh38 GRCh37 |
12 | 120 | |
ENPP6 | - | - |
GRCh38 GRCh37 |
39 | 143 | |
HELT | - | - |
GRCh38 GRCh37 |
32 | 150 |
There are 140 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 10, 2014 | RCV000142279.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024