ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:636673-786508)x3
Germline
Classification
(1)
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 | |||
ANTKMT | - | - |
GRCh38 GRCh37 |
7 | 73 | |
CCDC78 | - | - |
GRCh38 GRCh37 |
554 | 613 | |
CIAO3 | - | - |
GRCh38 GRCh37 |
22 | 81 | |
FBXL16 | - | - |
GRCh38 GRCh37 |
8 | 74 | |
HAGHL | - | - | - |
GRCh38 GRCh37 |
13 | 77 |
JMJD8 | - | - | - |
GRCh38 GRCh37 |
22 | 199 |
LOC100287175 | - | - | - | GRCh38 | - | 21 |
LOC105371038 | - | - | - | GRCh38 | - | 20 |
LOC111188163 | - | - | - | GRCh38 | - | 19 |
LOC121530608 | - | - | - | GRCh38 | - | 17 |
There are 32 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 |
---|---|---|---|---|
Benign (1) |
|
Apr 30, 2011 | RCV000140337.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023