ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_48382160)_(49856876_?)dup
Germline
Classification
(2)
Uncertain significance
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 | |||
CLCN5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 585 | |
EBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
174 | 340 | |
PQBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
136 | 322 | |
SLC35A2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
307 | 479 | |
WDR45 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
361 | 645 | |
SYP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
47 | 222 | |
GATA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
315 | 487 | |
CACNA1F | - | - |
GRCh38 GRCh37 |
1136 | 1382 | |
CCDC120 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 204 | |
CCDC22 | - | - |
GRCh38 GRCh37 |
142 | 305 |
There are 44 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 16, 2020 | RCV001305099.1 | |
Uncertain significance (1) |
|
Oct 16, 2020 | RCV001308190.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2023