ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_45827353)_(47804770_?)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 | |||
MYBPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3901 | 3920 | |
PHF21A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
237 | 255 | |
ACP2 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
AGBL2 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 56 | |
AMBRA1 | - | - |
GRCh38 GRCh37 |
65 | 98 | |
ARFGAP2 | - | - |
GRCh38 GRCh37 |
42 | 56 | |
ARHGAP1 | - | - |
GRCh38 GRCh37 |
29 | 53 | |
ATG13 | - | - |
GRCh38 GRCh37 |
28 | 52 | |
C1QTNF4 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 46 | |
CELF1 | - | - |
GRCh38 GRCh37 |
15 | 26 |
There are 32 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) |
|
Mar 15, 2022 | RCV003119908.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024