ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
587 | 633 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2561 | 2769 | |
ARCN1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
215 | 255 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1445 | 1598 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
23 | 61 | |
APOA1 | - | - |
GRCh38 GRCh37 |
103 | 327 | |
APOA4 | - | - |
GRCh38 GRCh37 |
130 | 163 | |
APOC3 | - | - |
GRCh38 GRCh37 |
62 | 96 | |
ARHGEF12 | - | - |
GRCh38 GRCh37 |
74 | 114 | |
ATP5MG | - | - |
GRCh38 GRCh37 |
- | 44 |
There are 62 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 18, 2018 | RCV000683365.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022