ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)
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 | |||
AEBP2 | - | - |
GRCh38 GRCh37 |
23 | 72 | |
GOLT1B | - | - |
GRCh38 GRCh37 |
2 | 43 | |
GYS2 | - | - |
GRCh38 GRCh37 |
278 | 345 | |
IAPP | - | - |
GRCh38 GRCh37 |
- | 44 | |
PDE3A | - | - |
GRCh38 GRCh37 |
158 | 281 | |
PLEKHA5 | - | - |
GRCh38 GRCh37 |
88 | 125 | |
PYROXD1 | - | - |
GRCh38 GRCh37 |
352 | 647 | |
RECQL | - | - |
GRCh38 GRCh37 |
1248 | 1532 | |
SLCO1A2 | - | - |
GRCh38 GRCh37 |
32 | 77 | |
SLCO1B1 | - | - |
GRCh38 GRCh37 |
176 | 233 |
There are 4 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 | RCV002052977.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022