ClinVar Genomic variation as it relates to human health
NC_000015.10:g.(51338597_?)_(51829837_51862810)inv
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 | |||
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1470 | 1550 | |
CYP19A1 | - | - |
GRCh38 GRCh37 |
15 | 523 | |
GLDN | - | - |
GRCh38 GRCh37 |
118 | 149 | |
LOC110386947 | - | - | - | GRCh38 | - | 6 |
LOC116268465 | - | - | - | GRCh38 | - | 5 |
LOC116268466 | - | - | - | GRCh38 | - | 5 |
LOC121530581 | - | - | - | GRCh38 | - | 7 |
LOC121847949 | - | - | - | GRCh38 | - | 5 |
LOC126862131 | - | - | - | GRCh38 | - | 55 |
LOC129390703 | - | - | - | GRCh38 | - | 5 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 8, 2003 | RCV000019403.24 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024
NCBI staff provided an HGVS expression for the inversion reported in OMIM allelic variant 107910.0011 based on the diagram in Figure 4 of the paper by Shozu et al., 2003 (PubMed 12736278).