ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_99344461)_(105992004_?)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 | |||
PAX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
474 | 495 | |
BTRC | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 132 | |
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
71 | 150 | |
LBX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 53 | |
PITX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 73 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 113 | |
ABCC2 | - | - |
GRCh38 GRCh37 |
978 | 1148 | |
ACTR1A | - | - |
GRCh38 GRCh37 |
7 | 28 | |
ARL3 | - | - |
GRCh38 GRCh37 |
133 | 156 | |
ARMH3 | - | - |
GRCh38 GRCh37 |
1 | 18 |
There are 87 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) |
|
Jul 10, 2023 | RCV003107322.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024