Table 5 Clinical and genetic details of children who had VUS
From: Clinical utility of genetic testing in Indian children with kidney diseases
Case | Age in mo | Sex | Family History | Disease Category | Clinical diagnosis | Gene | Location | Variant | Zygosity |
|---|---|---|---|---|---|---|---|---|---|
3 | 60 | M | Nil | 7 | C3 Glomerulopathy | WT1 | Exon 9 | c.749G > A(p.Arg250Gln) | Heterozygous |
6 | 9 | F | Nil | 5 | Glomerulocystic kidney disease | PKD2 | c.103_104delinsAA(p.Al135Asn) | Heterozygous | |
11 | 132 | F | Nil | 2 | FSGS | PLCE1 | Exon 10 | c.6655 T > A(p.Phe2219Ile) | Heterozygous |
17 | 12 | M | Nil | 2 | SRNS | NUP133 | Exon 10 | c.1196C > T(p.Ser399Phe) | Heterozygous |
19 | 72 | M | Nil | 2 | SRNS | TRPC6 | Exon 2 | c.299A > C(p.Glu100Ala) | Homozygous |
25 | 24 | F | Nil | 7 | Atypical HUS | SPTB | Exon 26 | c.5617G > A(p.Ala1873Thr) | Heterozygous |
26 | 96 | F | Nil | 5 | Nephronopthisis related ciliopathy | PKD1 | Exon 15 | c.6593C > T(p.Pro2198Leu) | Heterozygous |
28 | 12 | M | Nil | 2 | SRNS | NUP93 | Exon 13 | c.1463A > G(p.His488Arg) | Homozygous |
40 | 132 | F | Nil | 7 | Atypical HUS and Dense deposit Disease | CFB | Exon 23 | c.2990G > A(p.Trp997Ter) | Heterozygous |
43 | 120 | F | Nil | 5 | Bardet Biedl Syndrome | PKD1 | Exon 25 | c.9113C > G(p.Pro3038Arg) | Heterozygous |
46 | 96 | M | Nil | 2 | SRNS | NPHP4 | Exon 22 Exon 17 | c.3175G > A(p.Ala1059Thr) c.2251G > A(p.Val751Ile) | Heterozygous |
47 | 48 | M | Nil | 2 | SRNS | INF1 | Exon 19 | c.2848C > T(p.Arg950Trp) | Heterozygous |
52 | 60 | M | Nil | 7 | Antifactor H antibody positive HUS | CFHR1,3 | Deletion probable | ||
56 | 84 | F | Nil | 2 | SRNS | FAT1, DGKE, FAT1 | Exon10,11,25 | c.7730 T > C(p.Val2577Ala) c.1442G > C(p.Gly481Ala) c.3850G > T(p.Asp218Gly) | Heterozygous |
60 | 120 | F | Nil | 1 | Renal Rickets | FAT1, EYA1 | Exon19,Exon10 Intron14 | c.10622A > G(p.Tyr3541Cys) c.5488C > T(p.His1830Tyr) c.1360 + 2C > T | |
64 | 192 | F | Nil | 6 | CKD | BBS4 | Exon 11 | c.760G > A(p.Val254Ile) | Homozygous |
65 | 156 | M | Nil | 2 | SRNS | NUP 205 | Exon 7 | c.938G > A(p.Arg313His) | Heterozygous |
68 | 24 | F | Nil | 2 | SRNS | INF2 | Exon 8 | c.1049C > T(p.Pro350Leu) | Heterozygous |
69 | 60 | F | Nil | 1 | Tubulopathy | ADCY10 | Exon 19 | c.2414 T > A | Heterozygous |
75 | 72 | M | Nil | 7 | Antifactor H antibody positive HUS | CFHR3 CFHR1 STIM1 COL4A5 | Exon1,2,3,6, intron4 Exon 3,5,6 Exon 6 Exon 19 | c.692A > g(pTyr231Cys) c.1095_1103del (p. Leu366_Gly368del) | Heterozygous Hemizygous |
15 | 12 | M | Nil | 1 | Bartter Syndrome | SLC12A1 | Exon 14 | c.1685C > T(p.Ala562Val) | Homozygous |
53 | 180 | M | Nil | 3 | Primary Hyperoxaluria | GRHPR | Exon 4 | c.349 T > C(p.Ser117Pro | Homozygous |
62 | 24 | F | yes | 3 | Familial Hypomagenesemia Hypercalciuria and Nephrocalcinosis | CLDN16 | Exon2 | c.374 T > C(p.Phe125Ser) | Homozygous |
73 | 70 | M | Nil | 7 | Antifactor H antibody positive HUS | CFHR1,3 | Chr1:g del | Chr1:g Del | Homozygous |