"UNC Molecular Genetics Laboratory, University of North Carolina at Ch - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188761	NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	NPHS1 (R976S)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 930199	NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)	NPHS1 (R802Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930197	NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys)	NPHS1 (E782K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1415681	NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)	NPHS1 (R496S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930198	NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala)	NPHS1 (T414A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 1518364	NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln)	NPHS1 (L237Q)	Single nucleotide variant (missense variant)	Microscopic hematuria +2 more	GUncertain significance
Select item 56440	NM_004646.4(NPHS1):c.139del (p.Ala47fs)	KIRREL2, NPHS1 (A47fs)	Deletion (frameshift variant)	Nephrotic syndrome +3 more	GPathogenic/Likely pathogenic

ClinVar