ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_116691583)_(121500272_?)dup
Germline
Classification
(6)
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 |
215 | 256 | |
HMBS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
587 | 633 | |
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2567 | 2775 | |
CBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1446 | 1600 | |
ABCG4 | - | - |
GRCh38 GRCh37 |
23 | 61 | |
APOA1 | - | - |
GRCh38 GRCh37 |
103 | 327 | |
APOA4 | - | - |
GRCh38 GRCh37 |
130 | 163 | |
APOC3 | - | - |
GRCh38 GRCh37 |
62 | 96 | |
ARHGEF12 | - | - |
GRCh38 GRCh37 |
74 | 114 | |
ATP5MG | - | - |
GRCh38 GRCh37 |
- | 44 |
There are 64 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) |
|
Jun 19, 2022 | RCV003109226.2 | |
Uncertain significance (1) |
|
Jun 19, 2022 | RCV003109224.3 | |
Uncertain significance (1) |
|
Jun 19, 2022 | RCV003109225.2 | |
Uncertain significance (1) |
|
Sep 19, 2022 | RCV003119250.3 | |
Uncertain significance (1) |
|
Jun 19, 2022 | RCV003119251.3 | |
Uncertain significance (1) |
|
Jun 19, 2022 | RCV003119252.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024