ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_6438478)_(8248686_?)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 | |||
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
495 | 543 | |
ACRBP | - | - |
GRCh38 GRCh37 |
26 | 73 | |
ACSM4 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
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 49 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV001913769.13 | |
Uncertain significance (1) |
|
Jun 13, 2022 | RCV003120743.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024