"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720781	NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)	NPHS1 (P1200S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 552390	NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)	NPHS1 (Y1183*)	Single nucleotide variant (nonsense)	Kidney disorder +2 more	GPathogenic/Likely pathogenic
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 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 1712368	NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)	NPHS1 (C1080S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
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 1712395	NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)	NPHS1 (P1061S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
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 760307	NM_004646.4(NPHS1):c.3110-5C>T	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1712408	NM_004646.4(NPHS1):c.2971G>A (p.Val991Ile)	NPHS1 (V991I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
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 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 1339205	NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	NPHS1 (G867D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1524828	NM_004646.4(NPHS1):c.2591G>A (p.Arg864His)	NPHS1 (R864H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GUncertain significance
Select item 1712391	NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)	NPHS1 (K848T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
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 1712383	NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)	NPHS1 (P838S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
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 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 328865	NM_004646.4(NPHS1):c.1926A>G (p.Val642=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 720782	NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555894	NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)	NPHS1 (V608I)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
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 716477	NM_004646.4(NPHS1):c.1758-8T>G	NPHS1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1657291	NM_004646.4(NPHS1):c.1734G>A (p.Leu578=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 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 56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1 (R460Q)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GPathogenic/Likely pathogenic
Select item 180461	NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	NPHS1 (E447K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 328872	NM_004646.4(NPHS1):c.1110T>C (p.Val370=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1712410	NM_004646.4(NPHS1):c.1108G>A (p.Val370Ile)	NPHS1 (V370I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
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 1712377	NM_004646.4(NPHS1):c.888G>T (p.Ala296=)	NPHS1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GUncertain significance
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 716478	NM_004646.4(NPHS1):c.840+6G>A	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 724178	NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)	NPHS1 (R268Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 198518	NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)	NPHS1 (P264R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 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 56493	NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)	NPHS1 (D105N)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 328882	NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	Congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
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 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 1712397	NM_004646.4(NPHS1):c.59-9T>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712384	NM_004646.4(NPHS1):c.17C>G (p.Thr6Arg)	KIRREL2, NPHS1 (T6R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance

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Items: 51