C1868672[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224485	NM_014625.4(NPHS2):c.*258A>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 224484	NM_014625.4(NPHS2):c.*200G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 224483	NM_014625.4(NPHS2):c.*157G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 293845	NM_014625.4(NPHS2):c.*54G>C	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 586184	NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)	AXDND1, NPHS2 (N355S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 260425	NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign/Likely benign
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 1303204	NM_014625.4(NPHS2):c.983A>G (p.Gln328Arg)	AXDND1, NPHS2 (Q260R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
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 260432	NM_014625.4(NPHS2):c.954C>T (p.Ala318=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
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 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 370718	NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	AXDND1, NPHS2 (A297V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 552959	NM_014625.4(NPHS2):c.874-1G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +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)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic
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 552884	NM_014625.4(NPHS2):c.873+2T>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely 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)	Steroid-resistant nephrotic syndrome +3 more	GPathogenic/Likely pathogenic
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 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 586186	NM_014625.4(NPHS2):c.852G>A (p.Ala284=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +1 more	GLikely benign
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 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 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 972638	NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser)	NPHS2 (R238S)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	not provided +4 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 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 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)	not provided +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 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 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 260428	NM_014625.4(NPHS2):c.456T>C (p.Leu152=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +2 more	GLikely benign
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 1180466	NM_014625.4(NPHS2):c.452-21C>T	NPHS2	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 1180467	NM_014625.4(NPHS2):c.452-46C>T	NPHS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 189111	NM_014625.4(NPHS2):c.451+2T>A	NPHS2	Single nucleotide variant (splice donor variant)	not provided +1 more	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 5361	NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2 (R138*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis +3 more	GPathogenic
Select item 1344816	NM_014625.4(NPHS2):c.397del (p.Arg133fs)	NPHS2 (R133fs)	Deletion (frameshift 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 222762	NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	NPHS2 (P118L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 260426	NM_014625.4(NPHS2):c.288C>T (p.Ser96=)	NPHS2	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 2 +2 more	GBenign/Likely benign
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 873811	NM_014625.4(NPHS2):c.220G>A (p.Gly74Ser)	NPHS2 (G74S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +2 more	GUncertain significance
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 447877	NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)	NPHS2 (A61V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +2 more	GBenign/Likely benign
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 716375	NM_014625.4(NPHS2):c.144C>T (p.Ser48=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1117301	NM_014625.4(NPHS2):c.138G>T (p.Ser46=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 447876	NM_014625.4(NPHS2):c.104dup (p.Arg36fs)	NPHS2 (R36fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 2 +1 more	GPathogenic
Select item 260424	NM_014625.4(NPHS2):c.102A>G (p.Gly34=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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
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 874769	NM_014625.4(NPHS2):c.17G>A (p.Arg6Gln)	NPHS2 (R6Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
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 1165811	NM_014625.4(NPHS2):c.-116C>T	NPHS2	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign

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Items: 76