ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
44 | 231 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
951 | 1250 | |
C16orf90 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
CLUAP1 | - | - |
GRCh38 GRCh37 |
367 | 436 | |
MTRNR2L4 | - | - | - |
GRCh38 GRCh37 |
3 | 48 |
NAA60 | - | - |
GRCh38 GRCh37 |
21 | 67 | |
NLRC3 | - | - |
GRCh38 GRCh37 |
132 | 187 | |
OR2C1 | - | - | - |
GRCh38 GRCh37 |
15 | 60 |
SLX4 | - | - |
GRCh38 GRCh37 |
2170 | 2232 | |
TIGD7 | - | - |
GRCh38 GRCh37 |
- | 93 |
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) |
|
Jun 21, 2017 | RCV000683748.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022