ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)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 | |||
POLR1D | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 119 | |
CDX2 | - | - |
GRCh38 GRCh37 |
24 | 59 | |
FLT1 | - | - |
GRCh38 GRCh37 |
81 | 128 | |
FLT3 | - | - |
GRCh38 GRCh37 |
207 | 248 | |
GSX1 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
LINC00543 | - | - | - |
GRCh38 GRCh37 |
- | 35 |
LNX2 | - | - |
GRCh38 GRCh37 |
42 | 81 | |
PAN3 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
PDX1 | - | - |
GRCh38 GRCh37 |
159 | 194 | |
URAD | - | - |
GRCh38 GRCh37 |
14 | 49 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 16, 2014 | RCV000512521.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024