ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_6978008)_(9010204_?)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 | |||
A2ML1 | - | - |
GRCh38 GRCh37 |
1404 | 1607 | |
ACSM4 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
AICDA | - | - |
GRCh38 GRCh37 |
241 | 280 | |
APOBEC1 | - | - |
GRCh38 GRCh37 |
11 | 58 | |
ATN1 | - | - |
GRCh38 GRCh37 |
162 | 250 | |
C12orf57 | - | - |
GRCh38 GRCh37 |
236 | 304 | |
C1R | - | - |
GRCh38 GRCh38 GRCh37 |
83 | 136 | |
C1RL | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 88 | |
C1S | - | - |
GRCh38 GRCh37 |
476 | 528 | |
C3AR1 | - | - |
GRCh38 GRCh37 |
41 | 87 |
There are 32 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) |
|
Dec 2, 2021 | RCV001877402.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023