ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_123003455)_(125313644_?)dup
Germline
Classification
(1)
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 | |||
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1803 | 2143 | |
ADCY5 | - | - |
GRCh38 GRCh37 |
763 | 791 | |
CCDC14 | - | - |
GRCh38 GRCh37 |
55 | 80 | |
HACD2 | - | - |
GRCh38 GRCh37 |
7 | 38 | |
HEG1 | - | - |
GRCh38 GRCh37 |
84 | 112 | |
ITGB5 | - | - |
GRCh38 GRCh37 |
52 | 71 | |
KALRN | - | - |
GRCh38 GRCh37 |
76 | 100 | |
MUC13 | - | - |
GRCh38 GRCh37 |
- | 18 | |
OSBPL11 | - | - |
GRCh38 GRCh37 |
40 | 63 | |
ROPN1 | - | - |
GRCh38 GRCh37 |
17 | 39 |
There are 4 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) |
|
Dec 7, 2021 | RCV003122995.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024