ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1
Germline
Classification
(1)
Pathogenic
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 |
1732 | 1776 | |
AEBP2 | - | - |
GRCh38 GRCh37 |
23 | 72 | |
CAPZA3 | - | - |
GRCh38 GRCh37 |
21 | 55 | |
DERA | - | - |
GRCh38 GRCh37 |
26 | 72 | |
GOLT1B | - | - |
GRCh38 GRCh37 |
2 | 43 | |
GYS2 | - | - |
GRCh38 GRCh37 |
268 | 335 | |
IAPP | - | - |
GRCh38 GRCh37 |
- | 44 | |
KCNJ8 | - | - |
GRCh38 GRCh37 |
199 | 243 | |
LDHB | - | - |
GRCh38 GRCh37 |
46 | 88 | |
LINC02378 | - | - | - | GRCh38 | - | 12 |
There are 93 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 27, 2011 | RCV000135620.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024