ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_116660844)_(121500272_?)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 | |||
ARCN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
208 | 246 | |
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
586 | 630 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2535 | 2740 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1424 | 1573 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
22 | 58 | |
APOA1 | - | - |
GRCh38 GRCh37 |
101 | 317 | |
APOA4 | - | - |
GRCh38 GRCh37 |
128 | 158 | |
APOA5 | - | - |
GRCh38 GRCh37 |
178 | 245 | |
APOC3 | - | - |
GRCh38 GRCh37 |
60 | 91 | |
ARHGEF12 | - | - |
GRCh38 GRCh37 |
66 | 106 |
There are 65 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 17, 2022 | RCV003107886.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024