ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3(chr1:109944288-110157840)x1
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 | |||
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
43 | 71 | |
AMIGO1 | - | - |
GRCh38 GRCh37 |
20 | 39 | |
ATXN7L2 | - | - | - |
GRCh38 GRCh37 |
36 | 55 |
CYB561D1 | - | - | - |
GRCh38 GRCh37 |
14 | 34 |
GNAT2 | - | - |
GRCh38 GRCh37 |
198 | 241 | |
GPR61 | - | - |
GRCh38 GRCh37 |
18 | 38 | |
MIR197 | - | - |
GRCh38 GRCh37 |
- | 21 | |
PSMA5 | - | - |
GRCh38 GRCh37 |
2 | 21 | |
SYPL2 | - | - | - |
GRCh38 GRCh37 |
15 | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 29, 2022 | RCV003483283.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024