ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p15(chr2:61515438-62305848)x1
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 | |||
B3GNT2 | - | - |
GRCh38 GRCh37 |
20 | 41 | |
CCT4 | - | - |
GRCh38 GRCh37 |
33 | 58 | |
COMMD1 | - | - |
GRCh38 GRCh37 |
11 | 43 | |
FAM161A | - | - |
GRCh38 GRCh37 |
781 | 874 | |
LOC122757952 | - | - | - | GRCh38 | - | 10 |
LOC129388870 | - | - | - | GRCh38 | - | 12 |
LOC129388871 | - | - | - | GRCh38 | - | 10 |
LOC129388872 | - | - | - | GRCh38 | - | 10 |
LOC129933835 | - | - | - | GRCh38 | - | 14 |
LOC129933836 | - | - | - | GRCh38 | - | 14 |
There are 24 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054053.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023