Gene: MFF-DT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200672668
rs200672668
COL4A3 ; MFF-DT
A 0.800 GeneticVariation CLINVAR COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 24052634

2013
dbSNP: rs375040636
rs375040636
COL4A3 ; MFF-DT
A 0.800 GeneticVariation CLINVAR Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 15954103

2005
dbSNP: rs200672668
rs200672668
COL4A3 ; MFF-DT
A 0.800 GeneticVariation CLINVAR Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 11134255

2001
dbSNP: rs201697532
rs201697532
COL4A3 ; MFF-DT
T 0.800 GeneticVariation CLINVAR

dbSNP: rs1553760257
rs1553760257
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080

2017
dbSNP: rs267606745
rs267606745
COL4A3 ; MFF-DT
A 0.700 CausalMutation CLINVAR Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. 28542346

2017
dbSNP: rs760846085
rs760846085
COL4A3 ; MFF-DT
C 0.700 GeneticVariation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080

2017
dbSNP: rs1559913871
rs1559913871
COL4A3 ; MFF-DT
C 0.700 GeneticVariation CLINVAR X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. 27627812

2016
dbSNP: rs267606745
rs267606745
COL4A3 ; MFF-DT
A 0.700 CausalMutation CLINVAR Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. 27281700

2016
dbSNP: rs766208466
rs766208466
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. 27627812

2016
dbSNP: rs778034451
rs778034451
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. 27627812

2016
dbSNP: rs868002181
rs868002181
COL4A3 ; MFF-DT
A 0.700 CausalMutation CLINVAR Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. 26346198

2016
dbSNP: rs1060499654
rs1060499654
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. 25307543

2015
dbSNP: rs121912825
rs121912825
COL4A3 ; MFF-DT
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121912827
rs121912827
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. 25307543

2015
dbSNP: rs1553755124
rs1553755124
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1553758919
rs1553758919
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR Evidence of digenic inheritance in Alport syndrome. 25575550

2015
dbSNP: rs769863513
rs769863513
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1306992119
rs1306992119
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs1553758919
rs1553758919
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs1553760257
rs1553760257
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing. 25514610

2014
dbSNP: rs1553760257
rs1553760257
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs749383170
rs749383170
COL4A3 ; MFF-DT
C 0.700 GeneticVariation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs749390823
rs749390823
COL4A3 ; MFF-DT
C 0.700 CausalMutation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs752452590
rs752452590
COL4A3 ; MFF-DT
G 0.700 GeneticVariation CLINVAR Natural history of genetically proven autosomal recessive Alport syndrome. 24633401

2014