ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_78857986)_(81282132_?)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 | |||
ABHD17C | - | - |
GRCh38 GRCh37 |
7 | 37 | |
ADAMTS7 | - | - |
GRCh38 GRCh37 |
177 | 200 | |
ANKRD34C | - | - | - |
GRCh38 GRCh37 |
29 | 49 |
ARNT2 | - | - |
GRCh38 GRCh37 |
184 | 212 | |
BCL2A1 | - | - |
GRCh38 GRCh37 |
2 | 34 | |
CEMIP | - | - |
GRCh38 GRCh37 |
139 | 179 | |
CHRNA3 | - | - |
GRCh38 GRCh37 |
87 | 113 | |
CHRNA5 | - | - |
GRCh38 GRCh37 |
27 | 57 | |
CHRNB4 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
CTSH | - | - |
GRCh38 GRCh37 |
26 | 47 |
There are 11 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) |
|
Sep 1, 2022 | RCV003116793.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023