Table 2.

Diagnostic Pathogenic/Likely Pathogenic variants in structural/functional genes responsible for nephrotic syndrome (NS) that account for 10% of missed diagnoses in our cohort.

Sample	Candidate Gene Name	Chromosome	Genomic Variation	cDNA Variation	dbSNP	Allele Frequency	Genotype	Inheritance	Functional Effect	ACMG Interpretation	Phenotype *
35	FN1	2	g.216241356C>T	c.5752G>A	-	0.0	Het	AD	Missense	VUS	Unknown ESRD
46	COL4A3	2	g.228173662T>C	c.4510T>C	rs201671013	0.0002350	Het	AD/AR	Missense	VUS/Likely Pathogenic	Unknown ESRD
51	TTC21B	2	g.166786784C>T	c.985G>A	rs768266139	0.000008814	Hom	AR	Missense	VUS/Likely Pathogenic	Unknown ESRD
56	INF2	14	g.105167927_105167928insAGC	c.226_227insAGC	-	0.0	Het	AD	In-frame insertion	Pathogenic	Unknown ESRD
57	COL4A4	2	g.227973547A>G	c.693+2T>C	-	0.0	Het	AD	Splice Donor Loss	Pathogenic	Unknown ESRD
62	NPHS2	1	g.179521754_179521755del	c.855_856del	rs749740335	0.0001558	Hom	AR	Frameshift	Pathogenic	Unknown ESRD
63	COL4A5	X	g.107827760_107827761insTT	c.1032+16_1032+17dup	-	0.0	Het	AD/AR	Splicing Variant	VUS/Likely Pathogenic	Unknown ESRD
67	COL4A4	2	g.227922281C>A	c.2419G>T	-	0.0	Het	AD/AR	Missense	VUS/Likely Pathogenic	FSGS
	MYO1E	15	g.59430471A>G	c.4316-2A>G	-	0.0	Het	AR	Missense	VUS
77	COL4A5	X	g.107930710A>G	c.4316-2A>G	-	0.0	Hom	AD/AR	Splicing Loss	Pathogenic	FSGS
89	COL4A5	X	g.107911582C>G	c.3638C>G	-	0.0	Het	AD/AR	Missense	Pathogenic	Unknown ESRD
103	PODXL	7	g.131241029_131241030insGGCGGC	c.89_90insGCCGCC	-	0.0	Het	AD/AR	In-frame insertion	VUS/Likely Pathogenic	Unknown ESRD
164	LAMB2	3	g.49162783G>C	c.2623C>G	-	0.0	Hom	AR	Missense	VUS/Likely Pathogenic	FSGS
168	LMNA	1	g.156107470G>A	c.1634G>A	rs142191737	0.0005141	Hom	AR	Missense	Likely Pathogenic	Unknown ESRD
169	NPHS2	1	g.179526214C>T	c.686G>A	rs61747728	0.03601	Hom	AR	Missense	VUS/Likely Pathogenic/Pathogenic	Unknown ESRD
176	COL4A4	2	g.227967540C>T	c.895G>A	rs757578262	0.0	Het	AD/AR	Missense	Likely Pathogenic	Unknown ESRD
		2	g.227985764C>T	c.293G>A	-	0.0	Het	AD/AR	Missense	Likely Pathogenic
182	NPHS1	19	g.36336621G>T	c.1707C>A	-	0.0	Hom	AR	Missense	Pathogenic	Unknown ESRD
190	INF2	14	g.105169734G>A	c.610G>A	rs1049200069	0.0	Het	AD	Missense	VUS	FSGS
195	TRPC6	11	g.101323799G>A	c.2683C>T	rs121434394	0.0	Het	AD	Missense	Pathogenic	FSGS
196	EMP2	16	g.10641396C>G	c.78+1G>C	rs747072310	0.00003103	Hom	AR	Splicing Variant	Likely Pathogenic	FSGS
198	PLCE1	10	g.96013971G>A	c.3304G>A	rs763011760	0.000008838	Hom	AR	Missense	VUS/Likely Pathogenic	FSGS
212	WT1	11	g.32413530T>C	c.1435A>G	-	0.0	Het	AD	Missense	VUS/Likely Pathogenic	Unknown ESRD
219	CUBN	10	g.16918949T>G	c.9053A>C	rs370778353	0.0001936	Hom	AR	Missense	VUS/Likely Pathogenic	FSGS
223	PAX2	10	g.102509528_102509529insG	c.76dup	rs768607170 rs77453353	0.00003590	Het	AD	Frameshift	Pathogenic	FSGS
232	COL4A4	2	g.227896862_227896870del	c.3699_3706+1del	-	0.0	Hom	AD/AR	Splice junction loss	Pathogenic	Unknown CKD
235	ADCK4	19	g.41206037_41206038insCA	c.1077_1078insTG	-	0.0	Hom	AR	Frameshift	Pathogenic	Unknown CKD
237	COL4A4	2	g.227968749C>T	c.755G>A	-	0.0	Het	AD/AR	Missense	VUS/Likely Pathogenic	FSGS
243	EMP2	16	g.10641396C>G	c.78+1G>C	rs747072310	0.00003103	Hom	AR	Splicing Variant	Likely Pathogenic	Unknown CKD
244	PODXL	7	g.131241029_131241030insGGGGAC	c.89_90insGTCCCC	-	0.0	Hom	AD/AR	In-frame insertion	VUS/Likely Pathogenic	FSGS

* FSGS: Focal segmental glomerulosclerosis, CKD: Chronic kidney disease, ESRD: End Stage Renal Disease, TX: Transplant, AR: Autosomal Recessive, AD: Autosomal Dominant.