ClinVar Genomic variation as it relates to human health
NC_000009.12:g.(126507040_126613928)_(126701032_126804072)del
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 | |||
LMX1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
583 | 624 | |
LMX1B-DT | - | - | - | GRCh38 | - | 18 |
LOC121366026 | - | - | - | GRCh38 | - | 17 |
LOC124310647 | - | - | - | GRCh38 | - | 17 |
LOC130002615 | - | - | - | GRCh38 | - | 17 |
LOC130002616 | - | - | - | GRCh38 | - | 17 |
LOC130002617 | - | - | - | GRCh38 | - | 18 |
LOC130002618 | - | - | - | GRCh38 | - | 16 |
LOC130002619 | - | - | - | GRCh38 | - | 16 |
LOC130002620 | - | - | - | GRCh38 | - | 16 |
There are 5 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) |
|
Oct 1, 2008 | RCV000007427.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
NCBI staff provided an HGVS expression for only the allele limited to deletion of LMX1B described in allelic variant 602575.0013.