ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_48895143)_(49213234_?)del
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 | |||
QRICH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
151 | 166 | |
ARIH2 | - | - |
GRCh38 GRCh37 |
14 | 28 | |
ARIH2OS | - | - | - |
GRCh38 GRCh37 |
- | 13 |
CCDC71 | - | - | - |
GRCh38 GRCh37 |
36 | 49 |
DALRD3 | - | - |
GRCh38 GRCh37 |
39 | 62 | |
IMPDH2 | - | - |
GRCh38 GRCh37 |
34 | 48 | |
KLHDC8B | - | - |
GRCh38 GRCh37 |
92 | 105 | |
LAMB2 | - | - |
GRCh38 GRCh37 |
1005 | 1045 | |
MIR191 | - | - |
GRCh38 GRCh37 |
- | 14 | |
NDUFAF3 | - | - |
GRCh38 GRCh37 |
77 | 131 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 17, 2023 | RCV004580965.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024