ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:192607378-194745252)
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 | |||
ATP13A3 | - | - |
GRCh38 GRCh37 |
159 | 216 | |
ATP13A4 | - | - |
GRCh38 GRCh37 |
117 | 161 | |
ATP13A5 | - | - |
GRCh38 GRCh37 |
56 | 115 | |
CPN2 | - | - |
GRCh38 GRCh37 |
48 | 91 | |
FAM43A | - | - | - |
GRCh38 GRCh37 |
22 | 75 |
GP5 | - | - |
GRCh38 GRCh37 |
32 | 77 | |
HES1 | - | - |
GRCh38 GRCh37 |
3 | 54 | |
LRRC15 | - | - |
GRCh38 GRCh37 |
56 | 99 | |
LSG1 | - | - |
GRCh38 GRCh37 |
54 | 117 | |
MB21D2 | - | - | - |
GRCh38 GRCh37 |
28 | 74 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053400.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022