ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.13(chr16:12124659-12483947)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
LOC101927227 | - | - | - | GRCh38 | - | 7 |
LOC112296185 | - | - | - | GRCh38 | - | 7 |
LOC112296186 | - | - | - | GRCh38 | - | 7 |
LOC112296187 | - | - | - | GRCh38 | - | 7 |
LOC121530618 | - | - | - | GRCh38 | - | 7 |
LOC121847970 | - | - | - | GRCh38 | - | 7 |
LOC126862290 | - | - | - | GRCh38 | - | 7 |
LOC130058520 | - | - | - | GRCh38 | - | 7 |
LOC130058521 | - | - | - | GRCh38 | - | 7 |
LOC130058522 | - | - | - | GRCh38 | - | 7 |
There are 5 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
|
Uncertain significance (1) |
|
Apr 23, 2013 | RCV000141652.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024