ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)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 |
211 | 251 | |
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 |
2550 | 2757 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1433 | 1584 | |
CHEK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 148 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
22 | 60 | |
ACRV1 | - | - |
GRCh38 GRCh37 |
- | 72 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
72 | 153 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
62 | 143 | |
ANKK1 | - | - |
GRCh38 GRCh37 |
91 | 107 |
There are 766 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 5, 2011 | RCV000137582.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024