ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_42928506)_(43737486_?)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 | |||
PPP2R5D | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
466 | 521 | |
ABCC10 | - | - |
GRCh38 GRCh37 |
106 | 135 | |
CRIP3 | - | - | - |
GRCh38 GRCh37 |
12 | 23 |
CUL7 | - | - |
GRCh38 GRCh37 |
737 | 763 | |
CUL9 | - | - |
GRCh38 GRCh37 |
212 | 246 | |
DLK2 | - | - | - |
GRCh38 GRCh37 |
8 | 37 |
DNPH1 | - | - |
GRCh38 GRCh37 |
14 | 26 | |
GNMT | - | - |
GRCh38 GRCh37 |
- | 121 | |
GTPBP2 | - | - |
GRCh38 GRCh37 |
133 | 169 | |
KLC4 | - | - |
GRCh38 GRCh37 |
47 | 59 |
There are 19 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) |
|
Jun 13, 2022 | RCV001384708.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024