ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_69748945)_(70644108_?)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 | |||
MED12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1651 | 1887 | |
NLGN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 273 | |
ZMYM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
98 | 230 | |
CXorf65 | - | - | - |
GRCh38 GRCh37 |
1 | 131 |
FOXO4 | - | - |
GRCh38 GRCh37 |
22 | 152 | |
GJB1 | - | - |
GRCh38 GRCh37 |
790 | 921 | |
IL2RG | - | - |
GRCh38 GRCh37 |
405 | 587 | |
ITGB1BP2 | - | - |
GRCh38 GRCh37 |
9 | 152 | |
NONO | - | - |
GRCh38 GRCh37 |
137 | 269 | |
SLC7A3 | - | - |
GRCh38 GRCh37 |
32 | 158 |
There are 3 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 13, 2022 | RCV003116312.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023