ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_101947022)_(107268849_?)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 | |||
AIMP1 | - | - |
GRCh38 GRCh37 |
102 | 125 | |
ARHGEF38 | - | - |
GRCh38 GRCh37 |
40 | 56 | |
BANK1 | - | - |
GRCh38 GRCh37 |
54 | 79 | |
BDH2 | - | - | - |
GRCh38 GRCh37 |
17 | 34 |
CENPE | - | - |
GRCh38 GRCh37 |
371 | 388 | |
CISD2 | - | - |
GRCh38 GRCh37 |
4 | 75 | |
CXXC4 | - | - |
GRCh38 GRCh37 |
1 | 26 | |
GSTCD | - | - |
GRCh38 GRCh37 |
20 | 39 | |
INTS12 | - | - |
GRCh38 GRCh37 |
20 | 36 | |
MANBA | - | - |
GRCh38 GRCh37 |
702 | 780 |
There are 11 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 16, 2022 | RCV003154901.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023