"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328882	NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	NPHS1, KIRREL2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 259483	NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	KIRREL2, NPHS1 (V43A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 328883	NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	KIRREL2, NPHS1 (E39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 259504	NM_004646.4(NPHS1):c.59-5C>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 1712397	NM_004646.4(NPHS1):c.59-9T>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712384	NM_004646.4(NPHS1):c.17C>G (p.Thr6Arg)	KIRREL2, NPHS1 (T6R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance

ClinVar