ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_113298934)_(114302627_?)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 | |||
ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2640 | 3223 | |
ALPK1 | - | - |
GRCh38 GRCh37 |
624 | 643 | |
LARP7 | - | - |
GRCh38 GRCh37 |
119 | 294 | |
MIR302A | - | - |
GRCh38 GRCh37 |
- | 19 | |
MIR302B | - | - |
GRCh38 GRCh37 |
- | 19 | |
MIR302C | - | - |
GRCh38 GRCh37 |
- | 19 | |
MIR302D | - | - |
GRCh38 GRCh37 |
- | 20 | |
MIR367 | - | - |
GRCh38 GRCh37 |
- | 20 | |
NEUROG2 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
ZGRF1 | - | - | - |
GRCh38 GRCh37 |
124 | 157 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 22, 2023 | RCV004580818.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024