ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_89859982)_(90294462_?)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 | |||
FANCI | - | - |
GRCh38 GRCh37 |
1948 | 2141 | |
KIF7 | - | - |
GRCh38 GRCh37 |
1258 | 1492 | |
LINC00928 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
MESP1 | - | - |
GRCh38 GRCh37 |
9 | 131 | |
MIR9-3 | - | - |
GRCh38 GRCh37 |
- | 37 | |
PEX11A | - | - |
GRCh38 GRCh37 |
23 | 67 | |
PLIN1 | - | - |
GRCh38 GRCh37 |
91 | 145 | |
POLG | - | - |
GRCh38 GRCh37 |
1 | 2958 | |
RHCG | - | - |
GRCh38 GRCh37 |
25 | 63 | |
TICRR | - | - |
GRCh38 GRCh37 |
41 | 141 |
There is 1 more gene 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) |
|
Jul 11, 2022 | RCV001980109.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023