C1868672[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126418	NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	AXDND1, NPHS2 (V290M +1 more)	Single nucleotide variant (missense variant +1 more)	NPHS2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	AXDND1, NPHS2 (R286fs +1 more)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis +3 more	GPathogenic/Likely pathogenic
Select item 2434420	NM_014625.4(NPHS2):c.807G>T (p.Arg269Ser)	AXDND1, NPHS2 (R201S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 447883	NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	AXDND1, NPHS2 (E264Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 447882	NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	AXDND1, NPHS2 (V260E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 556556	NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)	NPHS2 (R238S)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +2 more	GPathogenic/Likely pathogenic
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 5368	NM_014625.4(NPHS2):c.538G>A (p.Val180Met)	NPHS2 (V180M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556941	NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	NPHS2 (L156fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2 (R138Q)	Single nucleotide variant (missense variant)	Chronic kidney disease +3 more	GPathogenic/Likely pathogenic
Select item 222762	NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	NPHS2 (P118L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic