"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6867	NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)	NPHS1 (R1109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 556220	NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)	NPHS1 (T1051A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 554443	NM_004646.4(NPHS1):c.1757+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
Select item 56424	NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)	NPHS1 (P368L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 56509	NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	NPHS1 (T172del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3065434	NM_004646.4(NPHS1):c.95G>A (p.Arg32Gln)	KIRREL2, NPHS1 (R32Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance

ClinVar