ClinVar Genomic variation as it relates to human health
NC_000001.11:g.6234122_6508845dup
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 | |||
ACOT7 | - | - |
GRCh38 GRCh37 |
26 | 86 | |
ESPN | - | - |
GRCh38 GRCh37 |
400 | 473 | |
GPR153 | - | - |
GRCh38 GRCh37 |
74 | 129 | |
HES2 | - | - |
GRCh38 GRCh37 |
15 | 73 | |
HES3 | - | - |
GRCh38 GRCh37 |
13 | 68 | |
ICMT | - | - |
GRCh38 GRCh37 |
8 | 65 | |
ICMT-DT | - | - | - | GRCh38 | - | 23 |
LOC121967058 | - | - | - | GRCh38 | - | 24 |
LOC126805597 | - | - | - | GRCh38 | - | 23 |
LOC126805598 | - | - | - | GRCh38 | - | 61 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 29, 2020 | RCV001542377.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023