Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124226
rs398124226
SEC23B
A 0.700 CausalMutation CLINVAR Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. 25044164

2014
dbSNP: rs1555789463
rs1555789463
SEC23B
A 0.700 GeneticVariation CLINVAR Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696

2013
dbSNP: rs201270568
rs201270568
SEC23B
0.700 GeneticVariation UNIPROT Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009
dbSNP: rs201270568
rs201270568
SEC23B
0.700 GeneticVariation UNIPROT Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C>T, c.325G>A, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C>T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G>A), and three nonsense (c.568C>T, c.649C>T, and c.1660C>T). 19621418

2009
dbSNP: rs398124226
rs398124226
SEC23B
A 0.700 CausalMutation CLINVAR Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. 19621418

2009
dbSNP: rs398124226
rs398124226
SEC23B
A 0.700 CausalMutation CLINVAR Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009
dbSNP: rs121918224
rs121918224
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918225
rs121918225
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918225
rs121918225
SEC23B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918226
rs121918226
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555788144
rs1555788144
SEC23B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568606490
rs1568606490
SEC23B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568617456
rs1568617456
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs111241405
rs111241405
ERFE
0.010 GeneticVariation BEFREE We identified a recurrent low-frequency variant, A260S, in the ERFE gene in 12.5% of CDAII patients with a severe phenotype. 31400017

2019