ClinVar Genomic variation as it relates to human health
NC_000002.12:g.(?_96537365)_(97009221_?)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 | |||
ANKRD23 | - | - |
GRCh38 GRCh37 |
15 | 78 | |
ANKRD39 | - | - | - |
GRCh38 GRCh37 |
15 | 78 |
ARID5A | - | - |
GRCh38 GRCh37 |
42 | 104 | |
CNNM3 | - | - |
GRCh38 GRCh37 |
25 | 117 | |
CNNM4 | - | - |
GRCh38 GRCh37 |
504 | 566 | |
FAM178B | - | - | - |
GRCh38 GRCh37 |
18 | 77 |
FER1L5 | - | - | - |
GRCh38 GRCh37 |
125 | 185 |
KANSL3 | - | - |
GRCh38 GRCh37 |
36 | 104 | |
LMAN2L | - | - |
GRCh38 GRCh37 |
47 | 109 | |
SEMA4C | - | - |
GRCh38 GRCh37 |
53 | 112 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 25, 2019 | RCV001031879.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022