|
rs28937879
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Allelic association of the c.[484C>G; 599T>G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic.
|
17962390 |
2008 |
|
rs28937879
|
|
|
0.820 |
GeneticVariation |
BEFREE |
CHST6 coding region analysis in 10 patients identified as having type I macular corneal dystrophy revealed 10 sequence changes: eight missense mutations, four of which are novel (Met104Val, Tyr110Cys, Gln122Pro, and Leu276Pro) and four of which have been reported previously (Ser51Leu, Pro72Ser, Cys102Gly, and Leu200Arg); one novel homozygous nonsense mutation in two patients from a single family (c. 1683C>T, Gln331X); and one frameshift mutation in a heterozygous state in a single patient (c.1744_1751dupGTGCGCTG).
|
15013869 |
2004 |
|
rs121917824
|
|
|
0.810 |
GeneticVariation |
BEFREE |
CHST6 coding region analysis in 10 patients identified as having type I macular corneal dystrophy revealed 10 sequence changes: eight missense mutations, four of which are novel (Met104Val, Tyr110Cys, Gln122Pro, and Leu276Pro) and four of which have been reported previously (Ser51Leu, Pro72Ser, Cys102Gly, and Leu200Arg); one novel homozygous nonsense mutation in two patients from a single family (c. 1683C>T, Gln331X); and one frameshift mutation in a heterozygous state in a single patient (c.1744_1751dupGTGCGCTG).
|
15013869 |
2004 |
|
rs202175444
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of MCD.
|
12882769 |
2003 |
|
rs376162109
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.
|
21242781 |
2011 |
|
rs72547543
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Four of five individuals with MCD type II were compound heterozygotes for p.A128V and p.V329L, thus sharing the same p.A128V mutation as MCD type I.
|
17093400 |
2006 |
|
rs752785520
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of MCD.
|
12882769 |
2003 |
|
rs119103229
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R508W is a recurrent mutation in Chinese MCD patients which is associated with the late onset phenotype.
|
12633764 |
2003 |
|
rs231775
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission.
|
29968132 |
2019 |
|
rs529839563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.
|
21242781 |
2011 |
|
rs57218384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes.
|
9171831 |
1997 |
|
rs5742909
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission.
|
29968132 |
2019 |
|
rs58038639
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD.
|
12543196 |
2003 |
|
rs58162394
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
|
rs58343600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes.
|
9171831 |
1997 |
|
rs587784505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, however, we report two novel de novo heterozygous TUBB3 amino acid substitutions, G71R and G98S, in four patients with both MCD and syndromic CFEOM3.
|
26639658 |
2016 |
|
rs58918655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
|
rs59202432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
|
16227835 |
2005 |
|
rs60410063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
|
16227835 |
2005 |
|
rs72547536
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CHST6 coding region analysis in 10 patients identified as having type I macular corneal dystrophy revealed 10 sequence changes: eight missense mutations, four of which are novel (Met104Val, Tyr110Cys, Gln122Pro, and Leu276Pro) and four of which have been reported previously (Ser51Leu, Pro72Ser, Cys102Gly, and Leu200Arg); one novel homozygous nonsense mutation in two patients from a single family (c. 1683C>T, Gln331X); and one frameshift mutation in a heterozygous state in a single patient (c.1744_1751dupGTGCGCTG).
|
15013869 |
2004 |
|
rs758259312
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of five individuals with MCD type II were compound heterozygotes for p.A128V and p.V329L, thus sharing the same p.A128V mutation as MCD type I.
|
17093400 |
2006 |
|
rs763075517
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A phenotypically unusual variant of MCDC1 was found to be associated with the novel Leu173Pro mutation in CHST6, transmitted via uniparental isodisomy, a previously unreported pattern of inheritance in the corneal dystrophies.
|
17896316 |
2007 |
|
rs764372925
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one sibling, MCD type I was due to a homozygous C1110T (Arg140end) mutation in CHST6.
|
15953452 |
2005 |
|
rs770962055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation analysis of the CHST6 coding region identified three different mutations in sixteen Icelandic patients with MCD type I. Eleven patients with MCD type I were homozygous for a C1075T mutation.
|
11139648 |
2000 |
|
rs886041459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p.Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD.
|
26739025 |
2016 |