C1868672[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558528	NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 370964	NM_014625.4(NPHS2):c.1062dup (p.Asn355fs)	AXDND1, NPHS2 (N287fs +1 more)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 558139	NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 556375	NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	AXDND1, NPHS2 (L327F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 555850	NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	NPHS2, AXDND1 (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)	AXDND1, NPHS2 (R322* +1 more)	Single nucleotide variant (nonsense +1 more)	Idiopathic nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 188990	NM_014625.4(NPHS2):c.948del (p.Ala317fs)	AXDND1, NPHS2 (A317fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 551821	NM_014625.4(NPHS2):c.934C>G (p.Leu312Val)	AXDND1, NPHS2 (L312V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 370718	NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	AXDND1, NPHS2 (A297V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 552959	NM_014625.4(NPHS2):c.874-1G>A	NPHS2, AXDND1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552789	NM_014625.4(NPHS2):c.874-2A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552884	NM_014625.4(NPHS2):c.873+2T>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 555445	NM_014625.4(NPHS2):c.873+1G>A	NPHS2, AXDND1	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 555901	NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln)	AXDND1, NPHS2 (R291Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 5369	NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	AXDND1, NPHS2 (R291W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 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 371301	NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter)	AXDND1, NPHS2 (Q287* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 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 550271	NM_014625.4(NPHS2):c.795-12T>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	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)	not provided +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	GConflicting classifications of pathogenicity
Select item 551436	NM_014625.4(NPHS2):c.770G>A (p.Gly257Glu)	AXDND1, NPHS2 (G257E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 553546	NM_014625.4(NPHS2):c.738+2T>C	NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +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 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)	Nephrotic syndrome, type 2 +6 more	GConflicting classifications of pathogenicity
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 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 554069	NM_014625.4(NPHS2):c.631T>A (p.Ser211Thr)	NPHS2 (S211T)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 550033	NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr)	NPHS2 (A208T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
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 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 553500	NM_014625.4(NPHS2):c.523C>T (p.Pro175Ser)	NPHS2 (P175S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GUncertain significance
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +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 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 556590	NM_014625.4(NPHS2):c.451+15dup	NPHS2	Duplication (intron variant)	Nephrotic syndrome, type 2	GLikely benign
Select item 189111	NM_014625.4(NPHS2):c.451+2T>A	NPHS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555037	NM_014625.4(NPHS2):c.385C>T (p.Gln129Ter)	NPHS2 (Q129*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 2	GPathogenic
Select item 553168	NM_014625.4(NPHS2):c.378+1G>A	NPHS2	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 557695	NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp)	NPHS2 (C124W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 370315	NM_014625.4(NPHS2):c.369del (p.Cys124fs)	NPHS2 (C124fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
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 557597	NM_014625.4(NPHS2):c.249del (p.Leu84fs)	NPHS2 (L84fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
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 555713	NM_014625.4(NPHS2):c.191TGG[1] (p.Val65del)	NPHS2 (V65del)	Microsatellite (inframe_deletion)	Nephrotic syndrome, type 2	GUncertain significance
Select item 557323	NM_014625.4(NPHS2):c.166dup (p.Glu56fs)	NPHS2 (E56fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 555448	NM_014625.4(NPHS2):c.166G>T (p.Glu56Ter)	NPHS2 (E56*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 495108	NM_014625.4(NPHS2):c.156del (p.Thr53fs)	NPHS2 (T53fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370759	NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs)	NPHS2 (S48fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 550771	NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg)	NPHS2 (G42R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 551115	NM_014625.4(NPHS2):c.102delinsGG (p.Arg36fs)	NPHS2 (R36fs)	Indel (frameshift variant)	Nephrotic syndrome, type 2	GLikely pathogenic
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 555900	NM_014625.4(NPHS2):c.88G>A (p.Glu30Lys)	NPHS2 (E30K)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2	GUncertain significance
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
Select item 551796	NM_014625.4(NPHS2):c.67_69del (p.Glu23del)	NPHS2 (E23del)	Deletion (inframe_deletion)	Nephrotic syndrome, type 2	GUncertain significance
Select item 552630	NM_014625.4(NPHS2):c.7AGG[1] (p.Arg4del)	NPHS2 (R4del)	Microsatellite (inframe_deletion)	Nephrotic syndrome, type 2	GUncertain significance
Select item 370679	NM_014625.4(NPHS2):c.3G>A (p.Met1Ile)	NPHS2 (M1I)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic

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Items: 60