ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_64973914)_(70052579_?)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 | |||
KMT5B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
184 | 200 | |
LRP5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2060 | 2077 | |
PACS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
761 | 798 | |
ACTN3 | - | - |
GRCh38 GRCh37 |
124 | 140 | |
ACY3 | - | - |
GRCh38 GRCh37 |
33 | 55 | |
AIP | - | - |
GRCh38 GRCh37 |
837 | 1024 | |
ALDH3B1 | - | - |
GRCh38 GRCh37 |
11 | 23 | |
ALDH3B2 | - | - |
GRCh38 GRCh37 |
38 | 57 | |
ANKRD13D | - | - |
GRCh38 GRCh37 |
37 | 56 | |
ANO1 | - | - |
GRCh38 GRCh37 |
79 | 90 |
There are 116 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) |
|
Aug 21, 2022 | RCV003113322.4 | |
Uncertain significance (1) |
|
Aug 21, 2022 | RCV003107753.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024