ClinVar Genomic variation as it relates to human health
NC_000020.11:g.(51758515_51770114)_(51894383_?)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 | |||
SALL4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
343 | 355 | |
ATP9A | - | - |
GRCh38 GRCh37 |
- | - | |
LINC01429 | - | - | - | GRCh38 | - | 5 |
LOC130066178 | - | - | - | GRCh38 | - | 5 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 1, 2004 | RCV000003491.4 |
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 allelic variant 607343.0010 (>135 kb, family 2, Borozdin et al., 2004, PubMed 15342710) based on the location of the primers 146F, 135F, and 10 and the amplification patterns reported in Table 3.