"Revvity Omics, Revvity"[submitter] AND "NPHS1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6873	NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1 (R1160*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 6867	NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)	NPHS1 (R1109*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 56497	NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	NPHS1 (V1084fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 930199	NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)	NPHS1 (R802Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188734	NM_004646.4(NPHS1):c.2335-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988266	NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	NPHS1 (R711S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2690656	NM_004646.4(NPHS1):c.1836_1837dup (p.Ser613fs)	NPHS1 (S613fs)	Microsatellite (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2434419	NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu)	NPHS1 (K582E)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56442	NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	NPHS1 (P519S)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
Select item 1324818	NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter)	NPHS1 (W478*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1447843	NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg)	NPHS1 (K430R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 930198	NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala)	NPHS1 (T414A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 890266	NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr)	NPHS1 (M399T)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +2 more	GUncertain significance
Select item 56424	NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)	NPHS1 (P368L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GLikely pathogenic
Select item 56421	NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	NPHS1 (R367C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56419	NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	NPHS1 (S350P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 496269	NM_004646.4(NPHS1):c.1020del (p.Ser341fs)	NPHS1 (S341fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56509	NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	NPHS1 (T172del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic