ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_23242819)_(25103366_?)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 | |||
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3637 | 4914 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
77 | 110 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 92 | |
AJUBA | - | - |
GRCh38 GRCh37 |
28 | 50 | |
AP1G2 | - | - |
GRCh38 GRCh37 |
4 | 87 | |
BCL2L2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
BCL2L2-PABPN1 | - | - | - |
GRCh38 GRCh37 |
- | 103 |
C14orf119 | - | - | - |
GRCh38 GRCh37 |
- | 22 |
C14orf93 | - | - | - |
GRCh38 GRCh37 |
7 | 30 |
CARMIL3 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 37 |
There are 69 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) |
|
Jan 16, 2022 | RCV003105428.3 | |
Uncertain significance (1) |
|
Jan 16, 2022 | RCV003105427.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024