C1868672[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5369	NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	AXDND1, NPHS2 (R291W +1 more)	Single nucleotide variant (missense variant +1 more)	Steroid-resistant nephrotic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 556941	NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	NPHS2 (L156fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5361	NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2 (R138*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2 +3 more	GPathogenic
Select item 2585077	NM_014625.4(NPHS2):c.258_270del (p.Ser86fs)	NPHS2 (S86fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2627450	NM_014625.4(NPHS2):c.191_192del (p.Val64fs)	NPHS2 (V64fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2504588	NM_014625.4(NPHS2):c.122_135dup (p.Ser46fs)	NPHS2 (S46fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic

ClinVar