ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_71146421)_(75283128_?)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 | |||
ANAPC15 | - | - |
GRCh38 GRCh37 |
- | 114 | |
ARAP1 | - | - |
GRCh38 GRCh37 |
111 | 137 | |
ARAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
ARHGEF17 | - | - |
GRCh38 GRCh37 |
128 | 177 | |
ARHGEF17-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
ARRB1 | - | - |
GRCh38 GRCh37 |
19 | 29 | |
ATG16L2 | - | - |
GRCh38 GRCh37 |
43 | 73 | |
C2CD3 | - | - |
GRCh38 GRCh37 |
869 | 937 | |
CHRDL2 | - | - |
GRCh38 GRCh37 |
24 | 36 | |
CLPB | - | - |
GRCh38 GRCh37 |
540 | 700 |
There are 55 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 21, 2022 | RCV003122786.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023