ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_33475283)_(34079869_?)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 | |||
AP2B1 | - | - |
GRCh38 GRCh37 |
20 | 30 | |
GAS2L2 | - | - |
GRCh38 GRCh37 |
124 | 138 | |
PEX12 | - | - |
GRCh38 GRCh37 |
508 | 518 | |
RASL10B | - | - |
GRCh38 GRCh37 |
7 | 15 | |
SLC35G3 | - | - | - |
GRCh38 GRCh37 |
34 | 46 |
SLFN11 | - | - |
GRCh38 GRCh37 |
71 | 86 | |
SLFN12 | - | - |
GRCh38 GRCh37 |
35 | 52 | |
SLFN12L | - | - |
GRCh38 GRCh37 |
28 | 41 | |
SLFN13 | - | - |
GRCh38 GRCh37 |
78 | 93 | |
SLFN14 | - | - |
GRCh38 GRCh37 |
82 | 117 |
There are 2 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 11, 2021 | RCV003110947.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023