ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_138645763)_(140729425_?)del
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
EHMT1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1986 | 2218 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
320 | 414 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
191 | 252 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
35 | 105 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
39 | 139 | |
C8G | - | - |
GRCh38 GRCh37 |
28 | 89 | |
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 72 |
CAMSAP1 | - | - |
GRCh38 GRCh37 |
98 | 156 | |
CARD9 | - | - |
GRCh38 GRCh37 |
510 | 585 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 10, 2019 | RCV001031921.8 | |
Uncertain significance (1) |
|
May 7, 2019 | RCV001362982.13 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024