"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NPHS2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1068472	NM_014625.4(NPHS2):c.1032del (p.Phe344fs)	AXDND1, NPHS2 (F276fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555850	NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	AXDND1, NPHS2 (R322Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GConflicting classifications of pathogenicity
Select item 371673	NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	NPHS2, AXDND1 (R322* +1 more)	Single nucleotide variant (nonsense +1 more)	Idiopathic nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1491797	NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	AXDND1, NPHS2 (E242K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 752488	NM_014625.4(NPHS2):c.885A>G (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 562398	NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	AXDND1, NPHS2 (A284V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 941972	NM_014625.4(NPHS2):c.738+1G>A	NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 289749	NM_014625.4(NPHS2):c.724G>A (p.Ala242Thr)	NPHS2 (A242T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 710192	NM_014625.4(NPHS2):c.723C>T (p.Ile241=)	NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely benign
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 555995	NM_014625.4(NPHS2):c.695C>T (p.Thr232Ile)	NPHS2 (T232I)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
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 555842	NM_014625.4(NPHS2):c.671G>A (p.Arg224His)	NPHS2 (R224H)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 370159	NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)	NPHS2 (Q215*)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 550033	NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr)	NPHS2 (A208T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 1626132	NM_014625.4(NPHS2):c.534+13A>T	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GLikely benign
Select item 1428492	NM_014625.4(NPHS2):c.534+5G>A	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 1439693	NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro)	NPHS2 (L169P)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +2 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 260427	NM_014625.4(NPHS2):c.451+9dup	NPHS2	Duplication (intron variant)	Nephrotic syndrome, type 2 +3 more	GBenign/Likely benign
Select item 942020	NM_014625.4(NPHS2):c.436del (p.Arg146fs)	NPHS2 (R146fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic
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 1344816	NM_014625.4(NPHS2):c.397del (p.Arg133fs)	NPHS2 (R133fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1160867	NM_014625.4(NPHS2):c.276T>C (p.Gly92=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 549953	NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter)	NPHS2 (R71*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2	GPathogenic
Select item 716375	NM_014625.4(NPHS2):c.144C>T (p.Ser48=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1117301	NM_014625.4(NPHS2):c.138G>T (p.Ser46=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 370936	NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs)	NPHS2 (G33fs)	Insertion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 553299	NM_014625.4(NPHS2):c.85G>A (p.Ala29Thr)	NPHS2 (A29T)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GUncertain significance

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Items: 32