ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_32148920)_(36953949_?)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 | |||
SYNGAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
319 | 1558 | |
AGER | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
42 | 53 | |
ANKS1A | - | - |
GRCh38 GRCh37 |
75 | 89 | |
ARMC12 | - | - |
GRCh38 GRCh37 |
23 | 32 | |
B3GALT4 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
16 | 26 | |
BAK1 | - | - |
GRCh38 GRCh37 |
10 | 19 | |
BLTP3A | - | - |
GRCh38 GRCh37 |
81 | 92 | |
BNIP5 | - | - | - |
GRCh38 GRCh37 |
8 | 17 |
BRD2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
72 | 79 | |
BRPF3 | - | - |
GRCh38 GRCh37 |
68 | 77 |
There are 86 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) |
|
Aug 20, 2022 | RCV003154914.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023