ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_721044)_(3988932_?)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 |
1197 | 1232 | |
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1718 | 2652 | |
KCNQ1OT1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1 | 696 | |
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 89 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 188 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 200 | |
OSBPL5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
95 | 125 | |
PHLDA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
13 | 43 | |
SLC22A18 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 89 | |
AP2A2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
47 | 88 |
There are 57 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) |
|
Nov 18, 2020 | RCV003113442.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024