ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:194790394-197961930)x3
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 | |||
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
19 | 123 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
APOD | - | - |
GRCh38 GRCh37 |
16 | 62 | |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 147 | |
CEP19 | - | - |
GRCh38 GRCh37 |
105 | 204 | |
DLG1 | - | - |
GRCh38 GRCh37 |
66 | 172 | |
DYNLT2B | - | - |
GRCh38 GRCh37 |
32 | 166 | |
FAM157A | - | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 7 |
FBXO45 | - | - |
GRCh38 GRCh37 |
5 | 108 | |
FYTTD1 | - | - |
GRCh38 GRCh37 |
13 | 72 |
There are 27 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) |
|
Jul 21, 2021 | RCV001801188.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 28, 2022