ClinVar Genomic variation as it relates to human health
NC_000018.9:g.(?_9102742)_(12725530_?)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 | |||
AFG3L2 | - | - |
GRCh38 GRCh37 |
412 | 549 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
97 | 202 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
100 | 203 | |
CEP76 | - | - | - |
GRCh38 GRCh37 |
- | 123 |
CHMP1B | - | - |
GRCh38 GRCh37 |
- | 116 | |
CIDEA | - | - |
GRCh38 GRCh37 |
17 | 111 | |
GNAL | - | - |
GRCh38 GRCh37 |
226 | 355 | |
IMPA2 | - | - |
GRCh38 GRCh37 |
16 | 120 | |
MPPE1 | - | - |
GRCh38 GRCh37 |
21 | 128 |
There are 14 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) |
|
Aug 9, 2022 | RCV003105519.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023