"Genome-Nilou Lab"[submitter] AND "NPHS1"[gene] - ClinVar

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Items: 28

	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 provided +4 more	GBenign/Likely benign
Select item 1172960	NM_004646.4(NPHS1):c.3481+45C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +2 more	GBenign
Select item 757504	NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GBenign/Likely benign
Select item 259497	NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1172962	NM_004646.4(NPHS1):c.3287-54C>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172963	NM_004646.4(NPHS1):c.3286+36C>T	NPHS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 56496	NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	NPHS1 (V1084fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 259496	NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser)	NPHS1 (N1077S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
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 1209632	NM_004646.4(NPHS1):c.2637G>T (p.Gly879=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 222761	NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	NPHS1 (R800C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 259489	NM_004646.4(NPHS1):c.2289C>T (p.Val763=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +3 more	GBenign
Select item 1210444	NM_004646.4(NPHS1):c.2177del (p.Gly726fs)	NPHS1 (G726fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 180464	NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	NPHS1 (G601A)	Single nucleotide variant (missense variant)	not provided +3 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 +3 more	GConflicting classifications of pathogenicity
Select item 259484	NM_004646.4(NPHS1):c.1320C>T (p.Pro440=)	NPHS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259482	NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)	NPHS1 (R408Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1172964	NM_004646.4(NPHS1):c.1171-86C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GBenign
Select item 1209631	NM_004646.4(NPHS1):c.1168G>T (p.Asp390Tyr)	NPHS1 (D390Y)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
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 1210443	NM_004646.4(NPHS1):c.610G>A (p.Val204Met)	NPHS1 (V204M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 282372	NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)	NPHS1 (N188I)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
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 1172965	NM_004646.4(NPHS1):c.397+61A>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome +1 more	GBenign
Select item 259500	NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)	NPHS1 (E117K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 259502	NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	KIRREL2, NPHS1 (G15R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1209634	NM_004646.4(NPHS1):c.10G>A (p.Gly4Arg)	KIRREL2, NPHS1 (G4R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 328887	NM_004646.4(NPHS1):c.-81C>G	KIRREL2, NPHS1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign

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Items: 28