ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1
Germline
Classification
(1)
association
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 | |||
CYLD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
129 | 336 | |
SALL1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
503 | 529 | |
ADCY7 | - | - |
GRCh38 GRCh37 |
63 | 90 | |
BRD7 | - | - |
GRCh38 GRCh37 |
24 | 54 | |
HEATR3 | - | - |
GRCh38 GRCh37 |
43 | 75 | |
NKD1 | - | - |
GRCh38 GRCh37 |
39 | 64 | |
NOD2 | - | - |
GRCh38 GRCh37 |
941 | 1037 | |
SNX20 | - | - |
GRCh38 GRCh37 |
14 | 40 | |
TENT4B | - | - |
GRCh38 GRCh37 |
26 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
association (1) |
|
Aug 1, 2022 | RCV002286604.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024