ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p11.21(chr8:42303397-43002481)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CHRNA6 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
CHRNB3 | - | - |
GRCh38 GRCh37 |
27 | 85 | |
FNTA | - | - |
GRCh38 GRCh37 |
16 | 87 | |
HGSNAT | - | - |
GRCh38 GRCh37 |
1056 | 1245 | |
HOOK3 | - | - |
GRCh38 GRCh37 |
25 | 87 | |
POMK | - | - |
GRCh38 GRCh37 |
253 | 325 | |
RNF170 | - | - |
GRCh38 GRCh37 |
33 | 91 | |
SLC20A2 | - | - |
GRCh38 GRCh37 |
306 | 381 | |
SMIM19 | - | - | - |
GRCh38 GRCh37 |
8 | 82 |
THAP1 | - | - |
GRCh38 GRCh37 |
176 | 233 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 17, 2017 | RCV000682997.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022