ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
KMT5B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
173 | 189 | |
MEN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2443 | 2460 | |
SDHAF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
552 | 568 | |
SHANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
347 | 361 | |
LRP5 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2035 | 2052 | |
PACS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
739 | 776 | |
ACTN3 | - | - |
GRCh38 GRCh37 |
90 | 106 | |
ACY3 | - | - |
GRCh38 GRCh37 |
20 | 42 | |
AHNAK | - | - |
GRCh38 GRCh37 |
407 | 424 | |
AIP | - | - |
GRCh38 GRCh37 |
787 | 969 |
There are 354 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) |
|
Dec 5, 2022 | RCV003484842.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024