C0403399[trait identifier] AND "Counsyl"[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 557225	NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter)	NPHS1 (G1238*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GUncertain significance
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 553466	NM_004646.4(NPHS1):c.3619del (p.Glu1207fs)	NPHS1 (E1207fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 553267	NM_004646.4(NPHS1):c.3613del (p.Trp1205fs)	NPHS1 (W1205fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
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 554227	NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)	NPHS1 (A1188T)	Single nucleotide variant (missense variant)	not provided +2 more	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 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 551939	NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del)	NPHS1 (D1177del)	Microsatellite (inframe_deletion)	Finnish congenital nephrotic syndrome	GUncertain significance
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 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 189146	NM_004646.4(NPHS1):c.3312-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 551546	NM_004646.4(NPHS1):c.3312-23C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 553028	NM_004646.4(NPHS1):c.3287-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GLikely pathogenic
Select item 554206	NM_004646.4(NPHS1):c.3287-11G>A	NPHS1	Single nucleotide variant (intron 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 553442	NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del)	NPHS1 (A1094del)	Deletion (inframe_deletion)	Finnish congenital nephrotic syndrome	GUncertain significance
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 558530	NM_004646.4(NPHS1):c.3167-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 556220	NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)	NPHS1 (T1051A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370623	NM_004646.4(NPHS1):c.3115dup (p.His1039fs)	NPHS1 (H1039fs)	Duplication (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 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 371659	NM_004646.4(NPHS1):c.3006_3012del (p.Gln1004fs)	NPHS1 (Q1004fs)	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 371245	NM_004646.4(NPHS1):c.2905del (p.Leu969fs)	NPHS1 (L969fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225423	NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)	NPHS1 (V957L)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
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 56487	NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)	NPHS1 (S928*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 259491	NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)	NPHS1 (A916S)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 556357	NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr)	NPHS1 (A907T)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 557408	NM_004646.4(NPHS1):c.2663_2663+9del	NPHS1	Deletion (splice donor variant)	not provided +1 more	GLikely 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 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 555946	NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs)	NPHS1 (T847fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 56479	NM_004646.4(NPHS1):c.2515del (p.Gln839fs)	NPHS1 (Q839fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 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 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 81107	NM_004646.4(NPHS1):c.2262G>A (p.Gly754=)	NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
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 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 370574	NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)	NPHS1 (W707*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 554961	NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser)	NPHS1 (P676S)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
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 550241	NM_004646.4(NPHS1):c.1931-1G>A	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56453	NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	NPHS1 (C623F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555894	NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)	NPHS1 (V608I)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 56449	NM_004646.3(NPHS1):c.1758-8_1785del	NPHS1	Deletion (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic
Select item 554443	NM_004646.4(NPHS1):c.1757+1G>A	NPHS1	Single nucleotide variant (splice donor variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
Select item 554182	NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)	NPHS1 (E583K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 371117	NM_004646.4(NPHS1):c.1745del (p.Lys582fs)	NPHS1 (K582fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56447	NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)	NPHS1 (S572N)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550087	NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)	NPHS1 (S572G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 56445	NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	NPHS1 (C567*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 555947	NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1])	NPHS1	Microsatellite (inframe_deletion)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1 (R460Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370986	NM_004646.4(NPHS1):c.1369del (p.Ala457fs)	NPHS1 (A457fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 180461	NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	NPHS1 (E447K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 56437	NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)	NPHS1 (I446N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370800	NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)	NPHS1 (W445*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557792	NM_004646.4(NPHS1):c.1316-2A>G	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56436	NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)	NPHS1 (V437fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56434	NM_004646.4(NPHS1):c.1275del (p.Lys426fs)	NPHS1 (K426fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56432	NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)	NPHS1 (G412C)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
Select item 56430	NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	NPHS1 (R407W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551740	NM_004646.4(NPHS1):c.1170+7C>T	NPHS1	Single nucleotide variant (intron variant)	Finnish congenital nephrotic syndrome	GConflicting classifications of pathogenicity
Select item 552201	NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del)	NPHS1 (W378del)	Deletion (inframe_deletion)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 550375	NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)	NPHS1 (S350F)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
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 554538	NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg)	NPHS1 (G347R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 556023	NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del)	NPHS1 (S341del)	Deletion (inframe_deletion)	Finnish congenital nephrotic syndrome	GUncertain significance
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 371617	NM_004646.4(NPHS1):c.1013-1G>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 556151	NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	NPHS1 (D310N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554511	NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys)	NPHS1 (E309K)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 551874	NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro)	NPHS1 (R299P)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 370925	NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)	NPHS1 (W289*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 549972	NM_004646.4(NPHS1):c.851del (p.Pro284fs)	NPHS1 (P284fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 556186	NM_004646.4(NPHS1):c.822_840+6dup	NPHS1	Duplication (splice donor variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 550289	NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)	NPHS1	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 56521	NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)	NPHS1 (E246*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 552585	NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg)	NPHS1 (L215R)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 370188	NM_004646.4(NPHS1):c.619del (p.Arg207fs)	NPHS1 (R207fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 56517	NM_004646.4(NPHS1):c.609-2A>C	NPHS1	Single nucleotide variant (splice acceptor variant)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 371443	NM_004646.4(NPHS1):c.595del (p.Glu199fs)	NPHS1 (E199fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 188816	NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)	NPHS1 (E189*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
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 56514	NM_004646.4(NPHS1):c.534del (p.Thr179fs)	NPHS1 (T179fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56513	NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)	NPHS1 (Q178*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 56509	NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	NPHS1 (T172del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic

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