ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)
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 | |||
SLC17A8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
273 | 285 | |
ACTR6 | - | - |
GRCh38 GRCh37 |
11 | 26 | |
ANO4 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 48 | |
ARL1 | - | - |
GRCh38 GRCh37 |
2 | 12 | |
CHPT1 | - | - |
GRCh38 GRCh37 |
16 | 36 | |
DEPDC4 | - | - | - |
GRCh38 GRCh37 |
14 | 30 |
DRAM1 | - | - |
GRCh38 GRCh37 |
13 | 24 | |
GAS2L3 | - | - |
GRCh38 GRCh37 |
36 | 48 | |
GNPTAB | - | - |
GRCh38 GRCh37 |
1553 | 1574 | |
IGF1 | - | - |
GRCh38 GRCh37 |
5 | 201 |
There are 11 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) |
|
Mar 1, 2022 | RCV002053013.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022