ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:195993691-197851986)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 | |||
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
21 | 126 | |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 153 | |
CEP19 | - | - |
GRCh38 GRCh37 |
106 | 206 | |
DLG1 | - | - |
GRCh38 GRCh37 |
74 | 181 | |
DYNLT2B | - | - |
GRCh38 GRCh37 |
32 | 168 | |
FBXO45 | - | - |
GRCh38 GRCh37 |
5 | 109 | |
FYTTD1 | - | - |
GRCh38 GRCh37 |
15 | 76 | |
IQCG | - | - |
GRCh38 GRCh37 |
29 | 209 | |
LMLN | - | - |
GRCh38 GRCh37 |
30 | 88 | |
LRCH3 | - | - | - |
GRCh38 GRCh37 |
77 | 143 |
There are 14 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) |
|
May 1, 2021 | RCV001827845.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022