ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_11277234)_(13249220_?)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 | |||
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 413 | |
ACP5 | - | - |
GRCh38 GRCh37 |
299 | 317 | |
ANGPTL8 | - | - |
GRCh38 GRCh37 |
- | 18 | |
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
CALR | - | - |
GRCh38 GRCh37 |
20 | 68 | |
CCDC159 | - | - | - |
GRCh38 GRCh37 |
24 | 40 |
CNN1 | - | - |
GRCh38 GRCh37 |
23 | 42 | |
DAND5 | - | - |
GRCh38 GRCh37 |
9 | 33 | |
DHPS | - | - |
GRCh38 GRCh37 |
23 | 67 | |
DNASE2 | - | - |
GRCh38 GRCh37 |
120 | 184 |
There are 60 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 12, 2022 | RCV003105511.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023