ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:726789-1066511)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 129 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
24 | 90 | |
CCDC78 | - | - |
GRCh38 GRCh37 |
557 | 616 | |
CHTF18 | - | - |
GRCh38 GRCh37 |
132 | 197 | |
CIAO3 | - | - |
GRCh38 GRCh37 |
37 | 96 | |
FBXL16 | - | - |
GRCh38 GRCh37 |
11 | 78 | |
GNG13 | - | - |
GRCh38 GRCh37 |
5 | 69 | |
HAGHL | - | - | - |
GRCh38 GRCh37 |
18 | 85 |
JMJD8 | - | - | - |
GRCh38 GRCh37 |
34 | 216 |
LMF1 | - | - |
GRCh38 GRCh37 |
476 | 608 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 28, 2022 | RCV002473519.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022