ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11-12.3(chr16:16450841-18203371)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 | |||
LOC102723692 | - | - | - |
GRCh38 GRCh38 |
- | 139 |
LOC111365165 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
LOC126862301 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
LOC126862302 | - | - | - |
GRCh38 GRCh38 |
- | 53 |
LOC126862303 | - | - | - | GRCh38 | - | 52 |
LOC126862304 | - | - | - | GRCh38 | - | 51 |
LOC126862305 | - | - | - | GRCh38 | - | 51 |
LOC129390771 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
LOC129390772 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC130058560 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
There are 21 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 | RCV000052518.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024