ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.2-13.13(chr16:9992260-10427239)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
GRIN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2043 | 2094 | |
ATF7IP2 | - | - |
GRCh38 GRCh37 |
44 | 94 | |
LOC110121335 | - | - | - | GRCh38 | - | 12 |
LOC116276445 | - | - | - | GRCh38 | - | 12 |
LOC125146403 | - | - | - | GRCh38 | - | 12 |
LOC125146404 | - | - | - | GRCh38 | - | 12 |
LOC129390766 | - | - | - | GRCh38 | - | 12 |
LOC129390767 | - | - | - | GRCh38 | - | 12 |
LOC130058419 | - | - | - | GRCh38 | - | 13 |
LOC130058420 | - | - | - | GRCh38 | - | 12 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 11, 2013 | RCV000143286.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023