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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712399	NM_014625.4(NPHS2):c.947C>G (p.Pro316Arg)	AXDND1, NPHS2 (P248R +1 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 716056	NM_014625.4(NPHS2):c.891G>A (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 260430	NM_014625.4(NPHS2):c.873+7A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 260429	NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)	NPHS2 (A242V)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +3 more	GConflicting classifications of pathogenicity
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 596903	NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)	NPHS2 (E237Q)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +3 more	GConflicting classifications of pathogenicity
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 1145431	NM_014625.4(NPHS2):c.513T>C (p.Thr171=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260427	NM_014625.4(NPHS2):c.451+9dup	NPHS2	Duplication (intron variant)	Nephrotic syndrome, type 2 +3 more	GBenign/Likely benign
Select item 5361	NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2 (R138*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis +3 more	GPathogenic
Select item 741670	NM_014625.4(NPHS2):c.372C>T (p.Cys124=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260431	NM_014625.4(NPHS2):c.87C>G (p.Ala29=)	NPHS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 5365	NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	NPHS2 (P20L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 225144	NM_014625.4(NPHS2):c.-51G>T	NPHS2	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 242409	NM_014625.4(NPHS2):c.-52C>G	NPHS2	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis +2 more	GBenign