ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_42128869)_(43054732_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | 77 | |
CHRNB3 | - | - |
GRCh38 GRCh37 |
27 | 86 | |
DKK4 | - | - |
GRCh38 GRCh37 |
18 | 74 | |
FNTA | - | - |
GRCh38 GRCh37 |
16 | 88 | |
HGSNAT | - | - |
GRCh38 GRCh37 |
1061 | 1251 | |
HOOK3 | - | - |
GRCh38 GRCh37 |
25 | 88 | |
IKBKB | - | - |
GRCh38 GRCh37 |
643 | 730 | |
POLB | - | - |
GRCh38 GRCh37 |
10 | 67 | |
POMK | - | - |
GRCh38 GRCh37 |
253 | 326 | |
RNF170 | - | - |
GRCh38 GRCh37 |
33 | 92 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 2, 2019 | RCV000803272.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023