ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)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 | |||
MEN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2518 | 2535 | |
PACS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
747 | 784 | |
ACTN3 | - | - |
GRCh38 GRCh37 |
114 | 130 | |
ANKRD13D | - | - |
GRCh38 GRCh37 |
30 | 49 | |
AP5B1 | - | - |
GRCh38 GRCh37 |
56 | 71 | |
ARL2 | - | - |
GRCh38 GRCh37 |
- | 24 | |
ATG2A | - | - |
GRCh38 GRCh37 |
145 | 159 | |
B4GAT1 | - | - |
GRCh38 GRCh37 |
194 | 217 | |
BANF1 | - | - |
GRCh38 GRCh37 |
27 | 47 | |
BATF2 | - | - |
GRCh38 GRCh37 |
16 | 28 |
There are 96 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) |
|
Sep 30, 2014 | RCV000511632.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024