Table 2.

Molecular diagnosis, including the performed genetic testing and information on the genetic variant, per case

Case number	Genetic testing performed	HGNC-approved gene name (transcript number)	OMIM number	Variant	Homozygous or heterozygous	Variant type	Reference/in silico predictions [18, 19, 20, 21]
Case 1 UMCU_ NG_ 012_01	FSGS	INF2 (NM_022489.3)	610982	c.217G>A p.(Gly73Ser)	Heterozygous	Pathogenic	Barua et al. [18] (no functional analysis of this variant) PolyPhen HumDiv score 1.000, sensitivity 0.00, specificity 1.00
							Polyphen HumVar score 1.000, sensitivity 0.00, specificity 1.00
							SIFT score 0.13 (tolerated) Not present in the gnomAD database
Case 2 UMCU_	FSGS	COL4A4 (NM 000092.4)	12131	c.2038G>C p.(Gly680Arg)	Heterozygous	Likely pathogenic	PolyPhen HumDiv score 1.000, sensitivity 0.00, specificity 1.00
NG_ 044_01							Polyphen HumVar score 1.000, sensitivity 0.00, specificity 1.00
							SIFT score 0.00 (deleterious) Not present in the gnomAD database
Case 3 UMCU_	FSGS	HNF1B (NM 000458.3)	189907	c.908G>A p.(Arg303His)	Heterozygous	VUS	PolyPhen HumDiv score 0.998, sensitivity 0.27, specificity 0.99
NG_ 100_01	PAX2 Sanger sequencing						PolyPhen HumVar score 0.877, sensitivity 0.71, specificity 0.89
	Full diagnostic renal diseases (‘RENome')						SIFT score 0.04 (deleterious) Not present in the gnomAD database

Arg, arginine; del, deletion; FSGS, focal segmental glomerulosclerosis; Glu, glutamic acid; Gly, glycine; HGNC, HUGO gene nomenclature committee; His, histidine; OMIM, online Mendelian inheritance in man®; Ser, serine; VUS, variant of unknown significance.