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 |
1138 | 1184 | |
CGAS | - | - |
GRCh38 GRCh37 |
25 | 48 | |
DDX43 | - | - |
GRCh38 GRCh37 |
37 | 51 | |
DPPA5 | - | - |
GRCh38 GRCh37 |
5 | 19 | |
EEF1A1 | - | - |
GRCh38 GRCh37 |
7 | 23 | |
KCNQ5 | - | - |
GRCh38 GRCh37 |
535 | 677 | |
KHDC1 | - | - |
GRCh38 GRCh37 |
- | 37 | |
KHDC1L | - | - | - |
GRCh38 GRCh37 |
- | 20 |
KHDC3L | - | - |
GRCh38 GRCh37 |
28 | 42 | |
MTO1 | - | - |
GRCh38 GRCh37 |
704 | 722 |
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 | RCV001384240.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024