Table 4.

Potentially pathogenic variants in 24 SRNS associated genes

Gene	Variant	State	Patient	Familial/Sporadic	dbSNP Ref. No.	Population Frequency	PolyPhen	MutPred
Definitely pathogenic
COL4A4	Ser969^a	Hom	24	Sporadic	rs35138315	No data	n/a	n/a
NPHS1	Arg586Gly	Hom	1, 4, 30	Familial	Not in dbSNP	No data	Benign	0.824
NPHS1	Val1084fs	Hom	3	Sporadic	Not in dbSNP	No data	n/a	n/a
NPHS2	Ala284Val	Hom	23	Familial	Not in dbSNP	No data	Probably damaging	0.945
PLCE1	Arg321^a	Hom	5	Familial	Not in dbSNP	No data	n/a	n/a
Probably pathogenic						No data
COQ2	Asn228Ser	CH	8	Sporadic	rs121918232	No data	Probably damaging	0.75
COQ2	Leu234fs		8		Not in dbSNP	No data	n/a	n/a
NPHS1	Ala806Gly	Hom	2	Sporadic	Not in dbSNP	No data	Possibly damaging	0.805
NPHS2	Arg229Gln	CH	6, 10	Familial	rs61747728	T=0.0178	Possibly damaging	0.698
NPHS2	Phe344fs		6, 10		Not in dbSNP	No data	n/a	n/a
Possibly pathogenic
APOL1	Val369Glu	Het	20	Sporadic	rs143845266	ESP: AT-0.003 TT-0.997	Probably damaging	0.831
MYO1E	Ile531Met	Het	34	Sporadic	rs140447165	C =0.002	Probably damaging	0.634
NPHS1	Ala916Ser	Het	6	Familial	rs138173172	ESP: AC 0.006 CC 0.994	Probably damaging	0.72
NPHS2	Pro20Leu	Het	17	Sporadic	rs74315344	A=0.0014	n/a	0.721
WT1	Ala100Gly	Het & Hom	1, 4	Familial	Not in dbSNP	No data	Benign	0.723

Variants identified by analysis of 24 nephrotic genes according to pathogenicity. Pathogenicity definition as described in the text. dbSNP, single-nucleotide polymorphism database; fs, frame shift; Hom, homozygous; Het, heterozygous; CH, compound heterozygous; n/a, not available.
↵a Nonsense.