ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_118007722)_(119170511_?)del
Germline
Classification
(1)
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 | |||
ARCN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
204 | 241 | |
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
586 | 629 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2523 | 2727 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1412 | 1556 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
19 | 54 | |
ATP5MG | - | - |
GRCh38 GRCh37 |
- | 32 | |
BCL9L | - | - |
GRCh38 GRCh37 |
91 | 122 | |
C2CD2L | - | - |
GRCh38 GRCh37 |
33 | 77 | |
CCDC153 | - | - | - |
GRCh38 GRCh37 |
9 | 42 |
CD3D | - | - |
GRCh38 GRCh37 |
202 | 234 |
There are 28 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) |
|
May 2, 2019 | RCV000816632.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023