ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3
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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 320 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1723 | 1932 | |
CLDN7 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 49 | |
CTDNEP1 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 41 | |
DVL2 | - | - |
GRCh38 GRCh37 |
47 | 112 | |
ELP5 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 68 | |
GABARAP | - | - |
GRCh38 GRCh37 |
1 | 38 | |
PHF23 | - | - |
GRCh38 GRCh37 |
24 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207224.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024