ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_139089171)_(141016451_?)del
Germline
Classification
(2)
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 | |||
EHMT1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
2074 | 2384 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
356 | 478 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
197 | 278 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 83 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 205 | |
C8G | - | - |
GRCh38 GRCh37 |
32 | 119 | |
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 92 |
CACNA1B | - | - |
GRCh38 GRCh37 |
1398 | 1688 | |
CARD9 | - | - |
GRCh38 GRCh37 |
514 | 609 |
There are 65 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003105304.6 | |
Pathogenic (1) |
|
Sep 6, 2022 | RCV003122293.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024