ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.1(chr17:7210345-7496934)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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
141 | 303 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1708 | 1913 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
CHRNB1 | - | - |
GRCh38 GRCh38 GRCh37 |
460 | 506 | |
CLDN7 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 46 | |
CTDNEP1 | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 37 | |
DVL2 | - | - |
GRCh38 GRCh37 |
42 | 101 | |
EIF5A | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 50 | |
ELP5 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 62 | |
FGF11 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 41 |
There are 64 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 | RCV000053425.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024