ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)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 | |||
ALX4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
275 | 293 | |
EXT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
727 | 825 | |
MYBPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3858 | 3875 | |
SDHAF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
552 | 568 | |
PHF21A | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
230 | 248 | |
ACCS | - | - |
GRCh38 GRCh37 |
25 | 46 | |
ACCSL | - | - | - |
GRCh38 GRCh37 |
25 | 46 |
ACP2 | - | - |
GRCh38 GRCh37 |
25 | 42 | |
AGBL2 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 46 | |
ALKBH3 | - | - |
GRCh38 GRCh37 |
11 | 32 |
There are 208 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) |
|
- | RCV002286338.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023