ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)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 | |||
LEMD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
548 | 637 | |
HMGA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
30 | 46 | |
GRIP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
674 | 691 | |
AVPR1A | - | - |
GRCh38 GRCh37 |
30 | 38 | |
C12orf56 | - | - | - |
GRCh38 GRCh37 |
7 | 17 |
DPY19L2 | - | - |
GRCh38 GRCh37 |
61 | 75 | |
GNS | - | - |
GRCh38 GRCh37 |
744 | 758 | |
HELB | - | - |
GRCh38 GRCh37 |
79 | 96 | |
HMGA2-AS1 | - | - | - | GRCh38 | - | 4 |
IRAK3 | - | - |
GRCh38 GRCh37 |
62 | 82 |
There are 136 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000138985.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024