ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1
Germline
Classification
(1)
Pathogenic
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 | |||
UBN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
83 | 141 | |
AKR1D1 | - | - |
GRCh38 GRCh37 |
199 | 246 | |
ATP6V0A4 | - | - |
GRCh38 GRCh37 |
402 | 470 | |
CLEC2L | - | - | - |
GRCh38 GRCh37 |
20 | 66 |
CREB3L2 | - | - |
GRCh38 GRCh37 |
27 | 77 | |
CREB3L2-AS1 | - | - | - | GRCh38 | - | 17 |
DGKI | - | - |
GRCh38 GRCh37 |
54 | 102 | |
FMC1 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
FMC1-LUC7L2 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
HIPK2 | - | - | GRCh38 | 12 | 32 |
There are 80 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054174.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023