"Baylor Genetics"[submitter] AND "NPHS2"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677349	NM_014625.4(NPHS2):c.1049del (p.Leu350fs)	AXDND1, NPHS2 (L282fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677343	NM_014625.4(NPHS2):c.969C>A (p.Tyr323Ter)	NPHS2, AXDND1 (Y255* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely 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 188990	NM_014625.4(NPHS2):c.948del (p.Ala317fs)	AXDND1, NPHS2 (A317fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 2677348	NM_014625.4(NPHS2):c.896del (p.Lys299fs)	AXDND1, NPHS2 (K231fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2202887	NM_014625.4(NPHS2):c.883G>A (p.Ala295Thr)	AXDND1, NPHS2 (A295T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 552789	NM_014625.4(NPHS2):c.874-2A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1409729	NM_014625.4(NPHS2):c.873+1G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 556281	NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)	AXDND1, NPHS2 (A288T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 3239975	NM_014625.4(NPHS2):c.853C>T (p.Gln285Ter)	AXDND1, NPHS2 (Q217* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely 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 370486	NM_014625.4(NPHS2):c.795-1G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677342	NM_014625.4(NPHS2):c.795-2A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
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 1075584	NM_014625.4(NPHS2):c.768G>A (p.Trp256Ter)	AXDND1, NPHS2 (W188* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 553546	NM_014625.4(NPHS2):c.738+2T>C	NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 370340	NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter)	NPHS2 (R229*)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
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 2677341	NM_014625.4(NPHS2):c.593A>C (p.Glu198Ala)	NPHS2 (E198A)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
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 3239971	NM_014625.4(NPHS2):c.579C>A (p.Cys193Ter)	NPHS2 (C193*)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 989252	NM_014625.4(NPHS2):c.561G>A (p.Met187Ile)	NPHS2 (M187I)	Single nucleotide variant (missense variant +1 more)	not specified +2 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 2677351	NM_014625.4(NPHS2):c.535-1G>C	NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 504890	NM_014625.4(NPHS2):c.535-1G>T	NPHS2	Single nucleotide variant (intron variant +1 more)	Idiopathic nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
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 188952	NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys)	NPHS2 (R168C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1073625	NM_014625.4(NPHS2):c.486C>A (p.Tyr162Ter)	NPHS2 (Y162*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2183604	NM_014625.4(NPHS2):c.483del (p.Tyr162fs)	NPHS2 (Y162fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2677354	NM_014625.4(NPHS2):c.468dup (p.Pro157fs)	NPHS2 (P157fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely 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 2677352	NM_014625.4(NPHS2):c.459_463del (p.Phe155fs)	NPHS2 (F155fs)	Microsatellite (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 996286	NM_014625.4(NPHS2):c.452del	NPHS2	Deletion (splice acceptor variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2734050	NM_014625.4(NPHS2):c.451+3A>T	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2677344	NM_014625.4(NPHS2):c.451+1G>C	NPHS2	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 2	GLikely pathogenic
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 928542	NM_014625.4(NPHS2):c.419del (p.Gly140fs)	NPHS2 (G140fs)	Deletion (frameshift variant)	NPHS2-related disorder +2 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 5361	NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2 (R138*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis +3 more	GPathogenic
Select item 2677353	NM_014625.4(NPHS2):c.379del	NPHS2	Deletion	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1457049	NM_014625.4(NPHS2):c.378+1_378+2delinsTG	NPHS2	Indel (splice donor variant)	not provided +1 more	GPathogenic
Select item 553168	NM_014625.4(NPHS2):c.378+1G>A	NPHS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1939980	NM_014625.4(NPHS2):c.370T>C (p.Cys124Arg)	NPHS2 (C124R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3239973	NM_014625.4(NPHS2):c.358T>C (p.Ser120Pro)	NPHS2 (S120P)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GLikely 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
Select item 3239974	NM_014625.4(NPHS2):c.298del (p.Ala100fs)	NPHS2 (A100fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677345	NM_014625.4(NPHS2):c.293_294del (p.Leu98fs)	NPHS2 (L98fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 557752	NM_014625.4(NPHS2):c.275-2A>G	NPHS2	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677346	NM_014625.4(NPHS2):c.274+1G>T	NPHS2	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 917730	NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter)	NPHS2 (E87*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 3239972	NM_014625.4(NPHS2):c.104_126dup (p.Pro43fs)	NPHS2 (P43fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GPathogenic
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
Select item 447876	NM_014625.4(NPHS2):c.104dup (p.Arg36fs)	NPHS2 (R36fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 2677350	NM_014625.4(NPHS2):c.63dup (p.Lys22fs)	NPHS2 (K22fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2019724	NM_014625.4(NPHS2):c.62_63insG (p.His21fs)	NPHS2 (H21fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3239976	NM_014625.4(NPHS2):c.50del (p.Gly17fs)	NPHS2 (G17fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677347	NM_014625.4(NPHS2):c.31del (p.Glu11fs)	NPHS2 (E11fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic

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Items: 66