ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3
Germline
Classification
(1)
Likely benign
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 | |||
KMT5B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
184 | 200 | |
LRP5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2060 | 2077 | |
C11orf24 | - | - |
GRCh38 GRCh37 |
4 | 19 | |
CPT1A | - | - |
GRCh38 GRCh37 |
977 | 1057 | |
GAL | - | - |
GRCh38 GRCh37 |
58 | 72 | |
IGHMBP2 | - | - |
GRCh38 GRCh37 |
1333 | 1412 | |
LINC01488 | - | - | GRCh38 | - | 2 | |
LINC02747 | - | - | GRCh38 | - | 2 | |
LINC02952 | - | - | - | GRCh38 | - | 3 |
LINC02953 | - | - | - | GRCh38 | - | 3 |
There are 88 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
|
Likely benign (1) |
|
Jan 13, 2012 | RCV000137992.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024