ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_218999525)_(220435954_?)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 | |||
AAMP | - | - |
GRCh38 GRCh37 |
13 | 42 | |
ABCB6 | - | - |
GRCh38 GRCh37 |
193 | 227 | |
ANKZF1 | - | - |
GRCh38 GRCh37 |
549 | 584 | |
ARPC2 | - | - |
GRCh38 GRCh37 |
9 | 35 | |
ASIC4 | - | - |
GRCh38 GRCh37 |
4 | 38 | |
ATG9A | - | - |
GRCh38 GRCh37 |
46 | 80 | |
BCS1L | - | - |
GRCh38 GRCh37 |
491 | 529 | |
CATIP | - | - |
GRCh38 GRCh37 |
4 | 56 | |
CDK5R2 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
CFAP65 | - | - |
GRCh38 GRCh37 |
45 | 101 |
There are 42 more genes 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) |
|
Sep 19, 2022 | RCV001955103.13 | |
Uncertain significance (1) |
|
Oct 8, 2021 | RCV001962531.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024