"PreventionGenetics, part of Exact Sciences"[submitter] AND "NPHS1"[ge - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259501	NM_004646.4(NPHS1):c.3595-9G>T	NPHS1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 554227	NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)	NPHS1 (A1188T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3030716	NM_004646.4(NPHS1):c.3531T>C (p.Asp1177=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder	GLikely benign
Select item 709098	NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)	NPHS1 (H1174Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259499	NM_004646.4(NPHS1):c.3482-7A>T	NPHS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2631571	NM_004646.4(NPHS1):c.3481G>A (p.Gly1161Ser)	NPHS1 (G1161S)	Single nucleotide variant (missense variant)	NPHS1-related disorder	GUncertain significance
Select item 282923	NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259498	NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)	NPHS1 (R1140S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 757504	NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 259497	NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +3 more	GBenign
Select item 1109277	NM_004646.4(NPHS1):c.3312-7C>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 798427	NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +2 more	GLikely benign
Select item 709497	NM_004646.4(NPHS1):c.3243C>T (p.Val1081=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 259496	NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser)	NPHS1 (N1077S)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +4 more	GBenign
Select item 1019678	NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile)	NPHS1 (L1072I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180466	NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu)	NPHS1 (S1058L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259495	NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=)	NPHS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 716700	NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)	NPHS1 (E1044K)	Single nucleotide variant (missense variant)	NPHS1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 259494	NM_004646.4(NPHS1):c.3110-8C>T	NPHS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 757420	NM_004646.4(NPHS1):c.3109+3G>T	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259493	NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu)	NPHS1 (V991L)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GBenign/Likely benign
Select item 328859	NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188761	NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	NPHS1 (R976S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +4 more	GPathogenic/Likely pathogenic
Select item 225423	NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)	NPHS1 (V957L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3040768	NM_004646.4(NPHS1):c.2816-3T>C	NPHS1	Single nucleotide variant (intron variant)	NPHS1-related disorder	GLikely benign
Select item 1712427	NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)	NPHS1 (S937N)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GUncertain significance
Select item 259491	NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)	NPHS1 (A916S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 259490	NM_004646.4(NPHS1):c.2622T>C (p.Thr874=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1712392	NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)	NPHS1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 56476	NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	NPHS1 (R831C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 727452	NM_004646.4(NPHS1):c.2482C>A (p.Arg828=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1586827	NM_004646.4(NPHS1):c.2394G>A (p.Thr798=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 890215	NM_004646.4(NPHS1):c.2334+9C>A	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259489	NM_004646.4(NPHS1):c.2289C>T (p.Val763=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +3 more	GBenign
Select item 259488	NM_004646.4(NPHS1):c.2223C>T (p.Thr741=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +3 more	GBenign
Select item 259486	NM_004646.4(NPHS1):c.1930+12G>A	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 259485	NM_004646.4(NPHS1):c.1930+10C>T	NPHS1	Single nucleotide variant (intron variant)	Congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 744870	NM_004646.4(NPHS1):c.1725G>T (p.Pro575=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder +1 more	GLikely benign
Select item 721129	NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447874	NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)	NPHS1 (A540E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 180462	NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)	NPHS1 (T537M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3046857	NM_004646.4(NPHS1):c.1593A>T (p.Gly531=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder	GLikely benign
Select item 259484	NM_004646.4(NPHS1):c.1320C>T (p.Pro440=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +3 more	GBenign
Select item 750832	NM_004646.4(NPHS1):c.1308C>T (p.Asn436=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder +1 more	GLikely benign
Select item 259482	NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)	NPHS1 (R408Q)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +4 more	GBenign/Likely benign
Select item 3051231	NM_004646.4(NPHS1):c.1206G>C (p.Leu402=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder	GLikely benign
Select item 259481	NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)	NPHS1 (L392P)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GBenign/Likely benign
Select item 259480	NM_004646.4(NPHS1):c.1170+8G>A	NPHS1	Single nucleotide variant (intron variant)	Congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 730355	NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)	NPHS1 (M384T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56421	NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	NPHS1 (R367C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 56417	NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)	NPHS1 (P340H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 740522	NM_004646.4(NPHS1):c.990C>T (p.His330=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631762	NM_004646.4(NPHS1):c.904del (p.Leu302fs)	NPHS1 (L302fs)	Deletion (frameshift variant)	NPHS1-related disorder	GPathogenic
Select item 259508	NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)	NPHS1 (T294I)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GBenign/Likely benign
Select item 259507	NM_004646.4(NPHS1):c.840+7dup	NPHS1	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 2148753	NM_004646.4(NPHS1):c.796G>A (p.Val266Met)	NPHS1 (V266M)	Single nucleotide variant (missense variant)	NPHS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 259506	NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	NPHS1 (T233A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 290122	NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)	NPHS1 (S220A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 370188	NM_004646.4(NPHS1):c.619del (p.Arg207fs)	NPHS1 (R207fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 259505	NM_004646.4(NPHS1):c.597G>A (p.Glu199=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 282372	NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)	NPHS1 (N188I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 766354	NM_004646.4(NPHS1):c.492C>T (p.Asp164=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1084534	NM_004646.4(NPHS1):c.398-6C>T	NPHS1	Single nucleotide variant (intron variant)	NPHS1-related disorder +1 more	GLikely benign
Select item 259500	NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)	NPHS1 (E117K)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GBenign
Select item 1089761	NM_004646.4(NPHS1):c.312C>T (p.Ser104=)	NPHS1	Single nucleotide variant (synonymous variant)	NPHS1-related disorder +2 more	GLikely benign
Select item 259492	NM_004646.4(NPHS1):c.294C>T (p.Ile98=)	NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +2 more	GBenign
Select item 727772	NM_004646.4(NPHS1):c.219C>T (p.Pro73=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 259487	NM_004646.4(NPHS1):c.216C>A (p.Gly72=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 259483	NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	KIRREL2, NPHS1 (V43A)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 56431	NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)	KIRREL2, NPHS1 (L41fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +2 more	GPathogenic
Select item 328883	NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	KIRREL2, NPHS1 (E39K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 259504	NM_004646.4(NPHS1):c.59-5C>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 259503	NM_004646.4(NPHS1):c.59-19C>A	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 259502	NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	KIRREL2, NPHS1 (G15R)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 74