ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7736464-7798352)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 | |||
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
427 | 530 | |
CHD3 | - | - |
GRCh38 GRCh37 |
385 | 464 | |
CYB5D1 | - | - | - |
GRCh38 GRCh37 |
- | 46 |
DNAH2 | - | - |
GRCh38 GRCh37 |
402 | 436 | |
NAA38 | - | - |
GRCh38 GRCh37 |
5 | 90 | |
TMEM88 | - | - |
GRCh38 GRCh37 |
16 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207083.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024