ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_4368352)_(9027607_?)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 | |||
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
498 | 546 | |
A2ML1 | - | - |
GRCh38 GRCh37 |
1404 | 1607 | |
ACRBP | - | - |
GRCh38 GRCh37 |
26 | 73 | |
ACSM4 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
AICDA | - | - |
GRCh38 GRCh37 |
241 | 280 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
APOBEC1 | - | - |
GRCh38 GRCh37 |
11 | 58 | |
ATN1 | - | - |
GRCh38 GRCh37 |
164 | 252 | |
C12orf4 | - | - |
GRCh38 GRCh37 |
15 | 50 |
There are 77 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) |
|
Oct 30, 2022 | RCV003105682.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023