ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_69240632)_(74779761_?)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 | |||
AAK1 | - | - |
GRCh38 GRCh37 |
29 | 51 | |
ACTG2 | - | - |
GRCh38 GRCh37 |
82 | 96 | |
ADD2 | - | - |
GRCh38 GRCh37 |
29 | 47 | |
ALMS1 | - | - |
GRCh38 GRCh38 GRCh37 |
6006 | 6317 | |
ANKRD53 | - | - |
GRCh38 GRCh37 |
52 | 67 | |
ANTXR1 | - | - |
GRCh38 GRCh37 |
153 | 166 | |
ANXA4 | - | - |
GRCh38 GRCh37 |
22 | 37 | |
ASPRV1 | - | - |
GRCh38 GRCh37 |
14 | 40 | |
ATP6V1B1 | - | - |
GRCh38 GRCh37 |
627 | 688 | |
AUP1 | - | - |
GRCh38 GRCh37 |
21 | 58 |
There are 64 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) |
|
May 30, 2022 | RCV003122858.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024