ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p15(chr2:61288659-61495559)x1
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 | |||
LOC122757951 | - | - | - | GRCh38 | - | 14 |
LOC129388867 | - | - | - | GRCh38 | - | 14 |
LOC129388868 | - | - | - | GRCh38 | - | 14 |
LOC129933830 | - | - | - | GRCh38 | - | 14 |
LOC129933831 | - | - | - | GRCh38 | - | 14 |
LOC129933832 | - | - | - | GRCh38 | - | 14 |
LOC129933833 | - | - | - | GRCh38 | - | 14 |
LOC129933834 | - | - | - | GRCh38 | - | 14 |
SNORA70B | - | - | - | GRCh38 | - | 13 |
USP34 | - | - |
GRCh38 GRCh37 |
186 | 230 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 10, 2011 | RCV000137610.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024