ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_72596727)_(74363609_?)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 | |||
RIMS1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1141 | 1188 | |
CGAS | - | - |
GRCh38 GRCh37 |
31 | 56 | |
DDX43 | - | - |
GRCh38 GRCh37 |
33 | 54 | |
DPPA5 | - | - |
GRCh38 GRCh37 |
5 | 19 | |
EEF1A1 | - | - |
GRCh38 GRCh37 |
8 | 24 | |
KCNQ5 | - | - |
GRCh38 GRCh37 |
546 | 690 | |
KHDC1 | - | - |
GRCh38 GRCh37 |
- | 38 | |
KHDC1L | - | - | - |
GRCh38 GRCh37 |
- | 20 |
KHDC3L | - | - |
GRCh38 GRCh37 |
31 | 45 | |
MTO1 | - | - |
GRCh38 GRCh37 |
713 | 731 |
There are 2 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) |
|
Feb 24, 2022 | RCV001384240.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024