ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3
Germline
Classification
(1)
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 | |||
ARCN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
200 | 240 | |
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
583 | 629 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2517 | 2724 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1411 | 1558 | |
CHEK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
58 | 138 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
19 | 57 | |
ACAD8 | - | - |
GRCh38 GRCh37 |
254 | 357 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 69 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
61 | 143 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
41 | 123 |
There are 761 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 16, 2012 | RCV000138307.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023