ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_612625)_(2193840_?)dup
Germline
Classification
(2)
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 | |||
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 89 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 186 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 200 | |
AP2A2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
47 | 88 | |
BRSK2 | - | - |
GRCh38 GRCh38 GRCh37 |
205 | 244 | |
CD151 | - | - |
GRCh38 GRCh37 |
154 | 192 | |
CDHR5 | - | - |
GRCh38 GRCh38 GRCh37 |
114 | 160 | |
CEND1 | - | - |
GRCh38 GRCh37 |
21 | 64 | |
CHID1 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
CRACR2B | - | - |
GRCh38 GRCh37 |
28 | 68 |
There are 37 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) |
|
May 6, 2019 | RCV001033372.1 | |
Uncertain significance (1) |
|
Sep 16, 2020 | RCV001301561.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023