ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_532616)_(2906985_?)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 | |||
CDKN1C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1191 | 1225 | |
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1696 | 2580 | |
KCNQ1OT1 | Little evidence for dosage pathogenicity | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1 | 653 | |
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 87 | |
HRAS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
9 | 708 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 175 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 199 | |
AP2A2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
34 | 74 | |
ASCL2 | - | - |
GRCh38 GRCh37 |
9 | 46 | |
BRSK2 | - | - |
GRCh38 GRCh38 GRCh37 |
183 | 221 |
There are 55 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 31, 2019 | RCV001032557.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023