"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579207	GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0	NPHS1, PRODH2	Copy number loss	Finnish congenital nephrotic syndrome	GPathogenic
Select item 6873	NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1 (R1160*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 635016	NM_004646.4(NPHS1):c.2506+5G>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 813918	NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr)	NPHS1 (I759T)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56419	NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	NPHS1 (S350P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56417	NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)	NPHS1 (P340H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 198518	NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)	NPHS1 (P264R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 56495	NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)	NPHS1 (A107V)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance

ClinVar