ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7014481-7283233)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 | |||
ACADVL | - | - |
GRCh38 GRCh37 |
1708 | 1913 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
ASGR2 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
CLDN7 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 46 | |
CTDNEP1 | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 37 | |
DLG4 | - | - |
GRCh38 GRCh37 |
143 | 305 | |
DVL2 | - | - |
GRCh38 GRCh37 |
42 | 101 | |
EIF5A | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 50 | |
ELP5 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 62 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 18, 2019 | RCV001259300.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022