ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_117856768)_(118972385_?)del
Germline
Classification
(4)
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 | |||
ARCN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
209 | 247 | |
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
586 | 630 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2538 | 2743 | |
ATP5MG | - | - |
GRCh38 GRCh37 |
- | 42 | |
BCL9L | - | - |
GRCh38 GRCh37 |
123 | 156 | |
CD3D | - | - |
GRCh38 GRCh37 |
206 | 239 | |
CD3E | - | - |
GRCh38 GRCh37 |
256 | 287 | |
CD3G | - | - |
GRCh38 GRCh37 |
72 | 181 | |
CENATAC | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 64 | |
CXCR5 | - | - |
GRCh38 GRCh37 |
26 | 58 |
There are 23 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) |
|
Apr 7, 2019 | RCV001031688.4 | |
Pathogenic (1) |
|
Apr 7, 2019 | RCV001389243.4 | |
Pathogenic (1) |
|
Apr 7, 2019 | RCV001382626.4 | |
Pathogenic (1) |
|
Apr 7, 2019 | RCV001386823.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023