ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3
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 | |||
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 | |
DENND2A | - | - |
GRCh38 GRCh37 |
62 | 107 | |
DGKI | - | - |
GRCh38 GRCh37 |
54 | 102 | |
FMC1 | - | - |
GRCh38 GRCh37 |
- | 47 | |
FMC1-LUC7L2 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
IFT56 | - | - |
GRCh38 GRCh37 |
45 | 86 |
There are 14 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) |
|
Sep 9, 2015 | RCV000512176.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024