C0403399[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188730	NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	NPHS2 (R168H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13760	NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SPINK1 (N34S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 1028631	NM_019109.5(ALG1):c.1061C>A (p.Pro354His)	ALG1 (P243H +1 more)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 3239967	NM_004646.4(NPHS1):c.3696_3700del (p.Pro1233fs)	NPHS1 (P1233fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677300	NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)	NPHS1 (F1234fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 556423	NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)	NPHS1 (D1208fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 2677306	NM_004646.4(NPHS1):c.3600_3607del	NPHS1	Deletion	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56502	NM_004646.4(NPHS1):c.3595-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 552983	NM_004646.4(NPHS1):c.3594+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 632309	NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)	NPHS1 (S1186fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 554816	NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs)	NPHS1 (S1186fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677332	NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)	NPHS1 (P1185fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 554827	NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)	NPHS1 (Y1183*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552390	NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)	NPHS1 (Y1183*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 496272	NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala)	NPHS1 (T1182A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GUncertain significance
Select item 807454	NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs)	NPHS1 (L1175fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 2677286	NM_004646.4(NPHS1):c.3482-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 928578	NM_004646.4(NPHS1):c.3481+1G>T	NPHS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 189074	NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	NPHS1 (Q1148*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3239968	NM_004646.4(NPHS1):c.3387+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677299	NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)	NPHS1 (Q1118*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 851701	NM_004646.4(NPHS1):c.3335del (p.Asn1112fs)	NPHS1 (N1112fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2145832	NM_004646.4(NPHS1):c.3312-1G>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3239954	NM_004646.4(NPHS1):c.3312-2A>T	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2677308	NM_004646.4(NPHS1):c.3311+1_3311+11del	NPHS1	Deletion (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677323	NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC	NPHS1	Indel (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1507099	NM_004646.4(NPHS1):c.3287-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 557003	NM_004646.4(NPHS1):c.3286+5G>A	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 803551	NM_004646.4(NPHS1):c.3286+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56497	NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	NPHS1 (V1084fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2677302	NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)	NPHS1 (A1078D)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1074718	NM_004646.4(NPHS1):c.3213del (p.Leu1072fs)	NPHS1 (L1072fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2677339	NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)	NPHS1 (S1042fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677326	NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)	NPHS1 (Q1040*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3239958	NM_004646.4(NPHS1):c.3061_3062delinsT (p.Asp1021fs)	NPHS1 (D1021fs)	Indel (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 554509	NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)	NPHS1 (D1021fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2677312	NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)	NPHS1 (D1021fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 553429	NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)	NPHS1 (Y1009*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 2677301	NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)	NPHS1 (Q1004*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239959	NM_004646.4(NPHS1):c.3005del (p.Gly1002fs)	NPHS1 (G1002fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 2637931	NM_004646.4(NPHS1):c.2928-3del	NPHS1	Deletion (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 371245	NM_004646.4(NPHS1):c.2905del (p.Leu969fs)	NPHS1 (L969fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2677315	NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)	NPHS1 (W961*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677320	NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)	NPHS1 (S951fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239962	NM_004646.4(NPHS1):c.2840_2842del (p.Leu947_Lys948delinsTer)	NPHS1	Deletion (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677319	NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)	NPHS1 (L947*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677321	NM_004646.4(NPHS1):c.2816-3T>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239969	NM_004646.4(NPHS1):c.2815+2_2815+5del	NPHS1	Deletion (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 554409	NM_004646.4(NPHS1):c.2815+3A>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 2677313	NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)	NPHS1 (Q934*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3239961	NM_004646.4(NPHS1):c.2760T>A (p.Cys920Ter)	NPHS1 (C920*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677327	NM_004646.4(NPHS1):c.2751_2754del (p.Phe918fs)	NPHS1 (F918fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239965	NM_004646.4(NPHS1):c.2737C>T (p.Gln913Ter)	NPHS1 (Q913*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1065992	NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	NPHS1 (S910P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2978206	NM_004646.4(NPHS1):c.2686del (p.Gln896fs)	NPHS1 (Q896fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812905	NM_004646.4(NPHS1):c.2663+2T>A	NPHS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 496271	NM_004646.4(NPHS1):c.2663+2T>G	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 554911	NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	NPHS1 (R888K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 648643	NM_004646.4(NPHS1):c.2633dup (p.Asn878fs)	NPHS1 (N878fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2677336	NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)	NPHS1	Indel (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56482	NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	NPHS1 (N870fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 56481	NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	NPHS1 (R866*)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 56480	NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)	NPHS1 (A850fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3239955	NM_004646.4(NPHS1):c.2521G>T (p.Glu841Ter)	NPHS1 (E841*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3239957	NM_004646.4(NPHS1):c.2515C>T (p.Gln839Ter)	NPHS1 (Q839*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56479	NM_004646.4(NPHS1):c.2515del (p.Gln839fs)	NPHS1 (Q839fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1065999	NM_004646.4(NPHS1):c.2506+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 56476	NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	NPHS1 (R831C)	Single nucleotide variant (missense variant)	NPHS1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 632927	NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter)	NPHS1 (R827*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 6875	NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	NPHS1 (V822M)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 56473	NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	NPHS1 (A806D)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2677297	NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)	NPHS1 (H804fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56471	NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	NPHS1 (R802W)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
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 3239956	NM_004646.4(NPHS1):c.2386G>C (p.Gly796Arg)	NPHS1 (G796R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 3239964	NM_004646.4(NPHS1):c.2334+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56469	NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	NPHS1 (R743C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2677292	NM_004646.4(NPHS1):c.2179_2212+6del	NPHS1	Deletion (splice donor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677324	NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)	NPHS1 (V736A)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 430877	NM_004646.4(NPHS1):c.2206G>A (p.Val736Met)	NPHS1 (V736M)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56466	NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)	NPHS1 (E725fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 56463	NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	NPHS1 (L719fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56464	NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)	NPHS1 (C721fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 2581211	NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)	NPHS1 (R711H)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 2677296	NM_004646.4(NPHS1):c.2083dup (p.Arg695fs)	NPHS1 (R695fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677293	NM_004646.4(NPHS1):c.2083del (p.Arg695fs)	NPHS1 (R695fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56461	NM_004646.4(NPHS1):c.2072-6C>G	NPHS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 56460	NM_004646.4(NPHS1):c.2071+2T>C	NPHS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2677335	NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)	NPHS1 (A691fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 371105	NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs)	NPHS1 (A675fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371118	NM_004646.4(NPHS1):c.1971del (p.Ala658fs)	NPHS1 (A658fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56457	NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)	NPHS1 (Q652*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1028797	NM_004646.4(NPHS1):c.1931-34A>G	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GUncertain significance

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