ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1
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 | |||
ABCC9 | - | - |
GRCh38 GRCh37 |
1711 | 1754 | |
C2CD5 | - | - |
GRCh38 GRCh37 |
45 | 81 | |
CMAS | - | - |
GRCh38 GRCh37 |
15 | 55 | |
GOLT1B | - | - |
GRCh38 GRCh37 |
2 | 43 | |
GYS2 | - | - |
GRCh38 GRCh37 |
260 | 327 | |
IAPP | - | - |
GRCh38 GRCh37 |
- | 43 | |
KCNJ8 | - | - |
GRCh38 GRCh37 |
195 | 238 | |
LDHB | - | - |
GRCh38 GRCh37 |
45 | 87 | |
PDE3A | - | - |
GRCh38 GRCh37 |
144 | 262 | |
PYROXD1 | - | - |
GRCh38 GRCh37 |
349 | 635 |
There are 8 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) |
|
May 15, 2018 | RCV000846444.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022