ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1
Germline
Classification
(1)
Pathogenic
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 |
42 | 154 | |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 143 | |
CASP3 | - | - |
GRCh38 GRCh37 |
14 | 126 | |
CCDC110 | - | - |
GRCh38 GRCh37 |
44 | 186 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
34 | 137 | |
CENPU | - | - |
GRCh38 GRCh37 |
33 | 153 | |
CFAP96 | - | - | - |
GRCh38 GRCh37 |
5 | 162 |
CFAP97 | - | - |
GRCh38 GRCh37 |
54 | 184 | |
CLDN22 | - | - |
GRCh38 GRCh37 |
- | 119 | |
CLDN24 | - | - | - |
GRCh38 GRCh37 |
13 | 113 |
There are 278 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 21, 2011 | RCV000137262.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024