Gene: COL2A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. 26358419

2016
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 26626311

2016
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. 26358419

2016
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 26626311

2016
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. 26358419

2016
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 26626311

2016
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Association between Kniest dysplasia and chondrosarcoma in a child. 26345137

2015
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 25604898

2015
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 26250472

2015
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 26250472

2015
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 25604898

2015
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Association between Kniest dysplasia and chondrosarcoma in a child. 26345137

2015
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR Association between Kniest dysplasia and chondrosarcoma in a child. 26345137

2015
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 26250472

2015
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 25604898

2015
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. 22791362

2012
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. 22791362

2012
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. 22791362

2012
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 20179744

2010
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 20179744

2010
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 20179744

2010
dbSNP: rs1555167847
rs1555167847
COL2A1
A 0.700 GeneticVariation CLINVAR Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1555164672
rs1555164672
COL2A1
T 0.700 CausalMutation CLINVAR Basic helix-loop-helix factors in cortical development. 12848929

2003