ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.3(chr16:89880964-90133246)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 | |||
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
300 | 371 | |
CENPBD1 | - | - | - |
GRCh38 GRCh37 |
15 | 71 |
DBNDD1 | - | - |
GRCh38 GRCh37 |
17 | 73 | |
DEF8 | - | - | - |
GRCh38 GRCh37 |
45 | 102 |
FANCA | - | - |
GRCh38 GRCh37 |
4165 | 5320 | |
GAS8 | - | - |
GRCh38 GRCh37 |
365 | 437 | |
GAS8-AS1 | - | - |
GRCh38 GRCh37 |
- | 69 | |
MC1R | - | - |
GRCh38 GRCh37 |
499 | 559 | |
PRDM7 | - | - |
GRCh38 GRCh37 |
33 | 90 | |
SPIRE2 | - | - |
GRCh38 GRCh37 |
82 | 160 |
There is 1 more gene 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000448757.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024