ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3
Germline
Classification
(1)
Likely 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 | |||
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 | |
GTF3A | - | - |
GRCh38 GRCh37 |
5 | 53 | |
LINC00297 | - | - | - | GRCh38 | - | 20 |
LINC00412 | - | - | - | GRCh38 | - | 16 |
LINC00543 | - | - | - |
GRCh38 GRCh37 |
- | 35 |
LINC00544 | - | - | - | GRCh38 | - | 19 |
There are 115 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
|
Likely pathogenic (1) |
|
Nov 30, 2010 | RCV000135283.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023