ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1
Germline
Classification
(1)
Likely 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 | |||
SETD1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
428 | 451 | |
HSD3B7 | - | - |
GRCh38 GRCh37 |
147 | 174 | |
LOC130058885 | - | - | - | GRCh38 | - | 6 |
LOC130058886 | - | - | - | GRCh38 | - | 6 |
LOC130058887 | - | - | - | GRCh38 | - | 8 |
STX1B | - | - |
GRCh38 GRCh37 |
354 | 385 | |
STX4 | - | - |
GRCh38 GRCh37 |
11 | 33 | |
ZNF668 | - | - |
GRCh38 GRCh37 |
45 | 67 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000139523.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024