"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthc - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635511	NM_014625.4(NPHS2):c.929A>T (p.Glu310Val)	AXDND1, NPHS2 (E310V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
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 635471	NM_014625.4(NPHS2):c.823dup (p.Gln275fs)	AXDND1, NPHS2 (Q275fs +1 more)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 188892	NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter)	NPHS2 (R196*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5368	NM_014625.4(NPHS2):c.538G>A (p.Val180Met)	NPHS2 (V180M)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 599118	NM_014625.4(NPHS2):c.479A>T (p.Asp160Val)	NPHS2 (D160V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 397592	NM_014625.4(NPHS2):c.452-1G>A	NPHS2	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome, type 2	GPathogenic
Select item 222762	NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	NPHS2 (P118L)	Single nucleotide variant (missense variant)	Proteinuria +2 more	GPathogenic
Select item 599119	NM_014625.4(NPHS2):c.167del (p.Glu56fs)	NPHS2 (E56fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 224481	NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter)	NPHS2 (Q39*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2	GConflicting classifications of pathogenicity