"Ambry Genetics"[submitter] AND "NPHS1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2243164	NM_004646.4(NPHS1):c.3665G>A (p.Gly1222Glu)	NPHS1 (G1222E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545511	NM_004646.4(NPHS1):c.3569G>A (p.Gly1190Glu)	NPHS1 (G1190E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 890166	NM_004646.4(NPHS1):c.3545C>T (p.Thr1182Met)	NPHS1 (T1182M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2254033	NM_004646.4(NPHS1):c.3526T>G (p.Tyr1176Asp)	NPHS1 (Y1176D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603917	NM_004646.4(NPHS1):c.3482-3C>G	NPHS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 328853	NM_004646.4(NPHS1):c.3419G>A (p.Arg1140His)	NPHS1 (R1140H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2241355	NM_004646.4(NPHS1):c.3302C>A (p.Thr1101Lys)	NPHS1 (T1101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712368	NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)	NPHS1 (C1080S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1074718	NM_004646.4(NPHS1):c.3213del (p.Leu1072fs)	NPHS1 (L1072fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1437168	NM_004646.4(NPHS1):c.3160C>T (p.Pro1054Ser)	NPHS1 (P1054S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 716700	NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)	NPHS1 (E1044K)	Single nucleotide variant (missense variant)	NPHS1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 180465	NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)	NPHS1 (G958E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2250634	NM_004646.4(NPHS1):c.2826C>A (p.Asp942Glu)	NPHS1 (D942E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287126	NM_004646.4(NPHS1):c.2816G>A (p.Ser939Asn)	NPHS1 (S939N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545628	NM_004646.4(NPHS1):c.2773G>T (p.Ala925Ser)	NPHS1 (A925S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1209633	NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala)	NPHS1 (T921A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2223934	NM_004646.4(NPHS1):c.2725G>A (p.Val909Met)	NPHS1 (V909M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551684	NM_004646.4(NPHS1):c.2636G>A (p.Gly879Glu)	NPHS1 (G879E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301414	NM_004646.4(NPHS1):c.2611A>G (p.Ile871Val)	NPHS1 (I871V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494583	NM_004646.4(NPHS1):c.2542A>G (p.Lys848Glu)	NPHS1 (K848E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1422383	NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr)	NPHS1 (P845T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2523747	NM_004646.4(NPHS1):c.2029G>A (p.Glu677Lys)	NPHS1 (E677K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252582	NM_004646.4(NPHS1):c.1897A>G (p.Thr633Ala)	NPHS1 (T633A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319979	NM_004646.4(NPHS1):c.1861G>T (p.Val621Leu)	NPHS1 (V621L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250633	NM_004646.4(NPHS1):c.1441G>T (p.Asp481Tyr)	NPHS1 (D481Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2137424	NM_004646.4(NPHS1):c.1370C>T (p.Ala457Val)	NPHS1 (A457V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2272262	NM_004646.4(NPHS1):c.1108G>T (p.Val370Phe)	NPHS1 (V370F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260250	NM_004646.4(NPHS1):c.1043C>T (p.Ser348Phe)	NPHS1 (S348F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384186	NM_004646.4(NPHS1):c.1009A>G (p.Thr337Ala)	NPHS1 (T337A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1520417	NM_004646.4(NPHS1):c.973G>T (p.Ala325Ser)	NPHS1 (A325S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253646	NM_004646.4(NPHS1):c.960C>A (p.His320Gln)	NPHS1 (H320Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264512	NM_004646.4(NPHS1):c.932A>G (p.His311Arg)	NPHS1 (H311R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1663205	NM_004646.4(NPHS1):c.887C>T (p.Ala296Val)	NPHS1 (A296V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2354664	NM_004646.4(NPHS1):c.760C>T (p.His254Tyr)	NPHS1 (H254Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328878	NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys)	NPHS1 (S162C)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +2 more	GUncertain significance
Select item 328880	NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln)	NPHS1 (E143Q)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GUncertain significance
Select item 2153247	NM_004646.4(NPHS1):c.295G>A (p.Glu99Lys)	NPHS1 (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2324786	NM_004646.4(NPHS1):c.263A>T (p.Asp88Val)	NPHS1, KIRREL2 (D88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319321	NM_004646.4(NPHS1):c.235G>T (p.Gly79Cys)	NPHS1, KIRREL2 (G79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549517	NM_004646.4(NPHS1):c.137G>A (p.Gly46Glu)	NPHS1, KIRREL2 (G46E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328883	NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	KIRREL2, NPHS1 (E39K)	Single nucleotide variant (missense variant)	NPHS1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2487544	NM_004646.4(NPHS1):c.83C>T (p.Ala28Val)	KIRREL2, NPHS1 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216461	NM_004646.4(NPHS1):c.82G>C (p.Ala28Pro)	NPHS1, KIRREL2 (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1460812	NM_004646.4(NPHS1):c.44G>A (p.Gly15Glu)	KIRREL2, NPHS1 (G15E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335457	NM_004646.4(NPHS1):c.19C>T (p.Leu7Phe)	NPHS1, KIRREL2 (L7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 45